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 GPR157 80045 broad.mit.edu 37 1 9171478 9171478 + Missense_Mutation SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr1:9171478C>T uc001apq.1 - 2 597 c.454G>A c.(454-456)GTG>ATG p.V152M GPR157_uc010oad.1_Missense_Mutation_p.V152M|GPR157_uc001apr.2_Missense_Mutation_p.V152M NM_024980 NP_079256 Q5UAW9 GP157_HUMAN G protein-coupled receptor 157 152 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_lung(157;0.185) all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642) CCCACAGACACGTCCGAGGCG 0.607 OREG0013073 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) DEPDC1 55635 broad.mit.edu 37 1 68949689 68949689 + Missense_Mutation SNP T T A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr1:68949689T>A uc001dem.3 - 7 971 c.854A>T c.(853-855)GAT>GTT p.D285V DEPDC1_uc001dej.3_5'Flank|DEPDC1_uc001dek.3_RNA|DEPDC1_uc001del.3_Missense_Mutation_p.D285V NM_001114120 NP_001107592 Q5TB30 DEP1A_HUMAN DEP domain containing 1 isoform a 285 Rho-GAP. intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex GTPase activator activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(397;7.21e-36) TTCAGGGAGATCTAGAAAATA 0.308 LPHN2 23266 broad.mit.edu 37 1 82416098 82416098 + Missense_Mutation SNP A A T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr1:82416098A>T uc001dit.3 + 7 1605 c.1424A>T c.(1423-1425)AAG>ATG p.K475M LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.K475M|LPHN2_uc001div.2_Missense_Mutation_p.K475M|LPHN2_uc009wcd.2_Missense_Mutation_p.K475M|LPHN2_uc001diw.2_Missense_Mutation_p.K46M NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 475 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) TTAGACTCCAAGGGGATAAAG 0.418 ASH1L 55870 broad.mit.edu 37 1 155449512 155449512 + Missense_Mutation SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr1:155449512C>T uc009wqq.2 - 3 3629 c.3149G>A c.(3148-3150)AGA>AAA p.R1050K ASH1L_uc001fkt.2_Missense_Mutation_p.R1050K|ASH1L_uc009wqr.1_Missense_Mutation_p.R1050K NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 1050 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) GCGACCTCTTCTCTTTCCTAT 0.418 HMCN1 83872 broad.mit.edu 37 1 186083167 186083167 + Missense_Mutation SNP A A C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr1:186083167A>C uc001grq.1 + 73 11417 c.11188A>C c.(11188-11190)ACT>CCT p.T3730P NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 3730 Ig-like C2-type 36. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 AAATAAGTCAACTGTATTGGA 0.418 CRB1 23418 broad.mit.edu 37 1 197391073 197391073 + Silent SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr1:197391073C>T uc001gtz.2 + 6 2250 c.2115C>T c.(2113-2115)CCC>CCT p.P705P CRB1_uc010poz.1_Silent_p.P636P|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Silent_p.P593P|CRB1_uc010ppb.1_Silent_p.P705P|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Silent_p.P186P|CRB1_uc001gub.1_Silent_p.P354P NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 705 Extracellular (Potential).|EGF-like 12. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 ATGAAGGCCCCAACTGTCTGA 0.527 C1orf115 79762 broad.mit.edu 37 1 220870050 220870050 + Missense_Mutation SNP A A T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr1:220870050A>T uc001hmp.1 + 2 523 c.406A>T c.(406-408)AGC>TGC p.S136C NM_024709 NP_078985 Q9H7X2 CA115_HUMAN hypothetical protein LOC79762 136 Helical; (Potential). integral to membrane 0 GBM - Glioblastoma multiforme(131;0.0273) GGTAGCCACCAGCGTGGTATC 0.597 LYST 1130 broad.mit.edu 37 1 235993555 235993555 + Missense_Mutation SNP G G C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr1:235993555G>C uc001hxj.2 - 3 338 c.163C>G c.(163-165)CTT>GTT p.L55V LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.L55V|LYST_uc001hxm.2_RNA|LYST_uc001hxn.1_Missense_Mutation_p.L55V NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 55 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) AGCTTGGTAAGTAATAGAAAT 0.408 Chediak-Higashi_syndrome BMI1 648 broad.mit.edu 37 10 22616977 22616977 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr10:22616977G>A uc001irh.2 + 6 1054 c.415G>A c.(415-417)GAC>AAC p.D139N BMI1_uc009xkg.2_Missense_Mutation_p.D282N NM_005180 NP_005171 P35226 BMI1_HUMAN BMI1 polycomb ring finger oncogene 139 hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent cytoplasm|nucleolus|PcG protein complex|ubiquitin ligase complex RING-like zinc finger domain binding|zinc ion binding ovary(1)|skin(1) 2 TGAATTCTTTGACCAGAACAG 0.308 ABCC2 1244 broad.mit.edu 37 10 101577118 101577118 + Missense_Mutation SNP G G T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr10:101577118G>T uc001kqf.2 + 17 2287 c.2148G>T c.(2146-2148)AAG>AAT p.K716N NM_000392 NP_000383 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), 716 Cytoplasmic (By similarity).|ABC transporter 1. apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(1) 1 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GCACCATAAAGGACAACATCC 0.488 SORCS3 22986 broad.mit.edu 37 10 106899211 106899211 + Silent SNP T T C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr10:106899211T>C uc001kyi.1 + 8 1496 c.1269T>C c.(1267-1269)GCT>GCC p.A423A NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 423 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) AGGCCTTTGCTCAGATAAAGC 0.512 HMX2 3167 broad.mit.edu 37 10 124909459 124909459 + Silent SNP G G T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr10:124909459G>T uc001lhc.1 + 2 899 c.642G>T c.(640-642)GCG>GCT p.A214A NM_005519 NP_005510 A2RU54 HMX2_HUMAN H6 family homeobox 2 214 cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222) Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141) AGCTGGAGGCGGCCAACATGG 0.677 AP2A2 161 broad.mit.edu 37 11 992584 992584 + Missense_Mutation SNP A A G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr11:992584A>G uc001lss.2 + 11 1532 c.1351A>G c.(1351-1353)ATT>GTT p.I451V AP2A2_uc001lst.1_Missense_Mutation_p.I452V|AP2A2_uc009yco.1_RNA|AP2A2_uc009ycq.1_Missense_Mutation_p.I42V NM_012305 NP_036437 O94973 AP2A2_HUMAN adaptor-related protein complex 2, alpha 2 451 axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|cytosol lipid binding|protein transporter activity 0 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082) CTTGATCCGAATTGCTGGTGA 0.552 RBMXL2 27288 broad.mit.edu 37 11 7111074 7111074 + Silent SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr11:7111074C>T uc001mfc.2 + 1 910 c.723C>T c.(721-723)CGC>CGT p.R241R NM_014469 NP_055284 O75526 HNRGT_HUMAN testes-specific heterogenous nuclear 241 Arg/Gly/Pro-rich. nucleus|ribonucleoprotein complex nucleotide binding|RNA binding 0 Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) ACACCCACCGCGATTACGGCC 0.657 MS4A14 84689 broad.mit.edu 37 11 60183029 60183029 + Silent SNP T T C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr11:60183029T>C uc001npj.2 + 5 1153 c.588T>C c.(586-588)AAT>AAC p.N196N MS4A14_uc001npi.2_Silent_p.N84N|MS4A14_uc001npn.2_5'UTR|MS4A14_uc001npk.2_Silent_p.N179N|MS4A14_uc001npl.2_5'UTR|MS4A14_uc001npm.2_5'UTR NM_032597 NP_115986 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 196 integral to membrane receptor activity breast(1) 1 CAACAACAAATGCACAATCTG 0.383 SF1 7536 broad.mit.edu 37 11 64536711 64536711 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr11:64536711G>A uc001obb.1 - 7 1140 c.763C>T c.(763-765)CGG>TGG p.R255W SF1_uc010rnm.1_5'Flank|SF1_uc010rnn.1_Missense_Mutation_p.R229W|SF1_uc001oaz.1_Missense_Mutation_p.R380W|SF1_uc001oba.1_Missense_Mutation_p.R255W|SF1_uc001obc.1_Missense_Mutation_p.R255W|SF1_uc001obd.1_Missense_Mutation_p.R255W|SF1_uc001obe.1_Missense_Mutation_p.R140W|SF1_uc010rno.1_Missense_Mutation_p.R140W NM_004630 NP_004621 Q15637 SF01_HUMAN splicing factor 1 isoform 1 255 R->A: Slightly decreases RNA-binding. nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent ribosome|spliceosomal complex protein binding|RNA binding|transcription corepressor activity|zinc ion binding ovary(1)|breast(1)|skin(1) 3 TCGTCTTCCCGAAGGGTCCCA 0.463 PELI3 246330 broad.mit.edu 37 11 66240870 66240870 + Silent SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr11:66240870C>T uc001oic.3 + 6 779 c.615C>T c.(613-615)GCC>GCT p.A205A PELI3_uc001oib.2_Silent_p.A205A|PELI3_uc001oid.3_Silent_p.A181A|PELI3_uc001oie.3_Silent_p.A56A|PELI3_uc010rpd.1_Silent_p.A46A NM_145065 NP_659502 Q8N2H9 PELI3_HUMAN pellino 3 alpha isoform 1 205 cytosol protein binding ovary(1) 1 GCATCTATGCCGCTGGCTTCG 0.622 ODZ4 26011 broad.mit.edu 37 11 78467865 78467865 + Missense_Mutation SNP T T G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr11:78467865T>G uc001ozl.3 - 19 3204 c.2741A>C c.(2740-2742)AAC>ACC p.N914T NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 914 Extracellular (Potential). signal transduction integral to membrane ovary(2)|pancreas(2) 4 ATCAAAGGGGTTCTCCCCGGG 0.577 ATM 472 broad.mit.edu 37 11 108214049 108214049 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr11:108214049G>A uc001pkb.1 + 57 8754 c.8369G>A c.(8368-8370)AGA>AAA p.R2790K ATM_uc009yxr.1_Missense_Mutation_p.R2790K|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.R1442K NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 2790 PI3K/PI4K. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GCTCATAAAAGATACAGGCCA 0.398 D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) TECTA 7007 broad.mit.edu 37 11 121038845 121038845 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr11:121038845G>A uc010rzo.1 + 18 5669 c.5669G>A c.(5668-5670)CGC>CAC p.R1890H NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 1890 ZP. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) ACCAGGGACCGCACGATCAAT 0.468 OR8D1 283159 broad.mit.edu 37 11 124180557 124180557 + Missense_Mutation SNP C C A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr11:124180557C>A uc010sag.1 - 1 106 c.106G>T c.(106-108)GTG>TTG p.V36L NM_001002917 NP_001002917 Q8WZ84 OR8D1_HUMAN olfactory receptor, family 8, subfamily D, 36 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) ACTGTGACCACATAGATTCCC 0.493 CDON 50937 broad.mit.edu 37 11 125889542 125889542 + Silent SNP G G T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr11:125889542G>T uc009zbw.2 - 4 596 c.468C>A c.(466-468)ATC>ATA p.I156I CDON_uc001qdc.3_Silent_p.I156I|CDON_uc001qdd.3_RNA|CDON_uc009zbx.2_Silent_p.I156I NM_016952 NP_058648 Q4KMG0 CDON_HUMAN surface glycoprotein, Ig superfamily member 156 Extracellular (Potential).|Ig-like C2-type 2. cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane protein binding ovary(3)|skin(2)|breast(1) 6 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) ATTTTCCCCGGATTTTATAGC 0.453 NTM 50863 broad.mit.edu 37 11 132184473 132184473 + Silent SNP A A G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr11:132184473A>G uc001qgp.2 + 6 1474 c.810A>G c.(808-810)AAA>AAG p.K270K NTM_uc001qgm.2_Silent_p.K270K|NTM_uc010sch.1_Silent_p.K261K|NTM_uc010sci.1_Silent_p.K270K|NTM_uc010scj.1_Silent_p.K229K|NTM_uc001qgo.2_Silent_p.K270K|NTM_uc001qgq.2_Silent_p.K270K|NTM_uc001qgr.2_Silent_p.K52K NM_016522 NP_057606 Q9P121 NTRI_HUMAN neurotrimin isoform 1 270 Ig-like C2-type 3. cell adhesion|neuron recognition anchored to membrane|plasma membrane ovary(4)|central_nervous_system(1)|skin(1) 6 AAGGGGTGAAAGTGGAAAACA 0.428 RASSF8 11228 broad.mit.edu 37 12 26217559 26217559 + Nonsense_Mutation SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr12:26217559C>T uc001rgx.2 + 3 453 c.232C>T c.(232-234)CGA>TGA p.R78* RASSF8_uc001rgy.2_Nonsense_Mutation_p.R78*|RASSF8_uc001rgz.2_Nonsense_Mutation_p.R78*|RASSF8_uc009zjd.1_Nonsense_Mutation_p.R78*|RASSF8_uc009zje.1_Nonsense_Mutation_p.R78* NM_007211 NP_009142 Q8NHQ8 RASF8_HUMAN Ras association (RalGDS/AF-6) domain family 78 Ras-associating. signal transduction 0 Colorectal(261;0.0847) GCTCATTCTACGACGAACTGG 0.468 ADAMTS20 80070 broad.mit.edu 37 12 43925975 43925975 + Silent SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr12:43925975G>A uc010skx.1 - 3 477 c.477C>T c.(475-477)AAC>AAT p.N159N NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 159 proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) AATATTCACCGTTCTGTCCTT 0.338 KRT73 319101 broad.mit.edu 37 12 53005086 53005086 + Missense_Mutation SNP G G A rs150273425 TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr12:53005086G>A uc001sas.2 - 6 1047 c.1012C>T c.(1012-1014)CGG>TGG p.R338W NM_175068 NP_778238 Q86Y46 K2C73_HUMAN keratin 73 338 Rod.|Coil 2. keratin filament structural molecule activity large_intestine(2)|ovary(2)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(357;0.189) TCCCCATGCCGGCCGGCTGCT 0.537 PPFIA2 8499 broad.mit.edu 37 12 81660768 81660768 + Missense_Mutation SNP T T G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr12:81660768T>G uc001szo.1 - 30 3679 c.3518A>C c.(3517-3519)AAC>ACC p.N1173T PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 1072 ovary(3)|lung(2)|pancreas(1) 6 GGCCAAGAGGTTATTGTATTC 0.358 UBE3B 89910 broad.mit.edu 37 12 109936111 109936111 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr12:109936111G>A uc001top.2 + 11 1496 c.893G>A c.(892-894)CGT>CAT p.R298H UBE3B_uc001toq.2_Missense_Mutation_p.R298H|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.R298H NM_130466 NP_569733 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 298 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity ovary(2)|lung(2) 4 GATCGATGCCGTGATGTATGT 0.438 MAB21L1 4081 broad.mit.edu 37 13 36049983 36049983 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr13:36049983G>A uc001uvc.2 - 1 850 c.293C>T c.(292-294)GCG>GTG p.A98V NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank NM_005584 NP_005575 Q13394 MB211_HUMAN mab-21-like protein 1 98 anatomical structure morphogenesis nucleus ovary(2) 2 Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202) all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115) CTTCAGCACCGCGCAGCCGGG 0.597 CCNA1 8900 broad.mit.edu 37 13 37014131 37014131 + Missense_Mutation SNP A A G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr13:37014131A>G uc001uvr.3 + 6 1259 c.909A>G c.(907-909)ATA>ATG p.I303M CCNA1_uc010teo.1_Missense_Mutation_p.I259M|CCNA1_uc010abq.2_Missense_Mutation_p.I259M|CCNA1_uc010abp.2_Missense_Mutation_p.I259M|CCNA1_uc001uvs.3_Missense_Mutation_p.I302M|CCNA1_uc010abr.2_Intron NM_003914 NP_003905 P78396 CCNA1_HUMAN cyclin A1 isoform a 303 cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding lung(2)|skin(2)|ovary(1) 5 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) ATGAAGAGATATATCCTCCTG 0.408 STOML3 161003 broad.mit.edu 37 13 39542650 39542650 + Missense_Mutation SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr13:39542650C>T uc001uwx.2 - 6 676 c.538G>A c.(538-540)GAA>AAA p.E180K STOML3_uc010tez.1_Missense_Mutation_p.E171K NM_145286 NP_660329 Q8TAV4 STML3_HUMAN stomatin-like 3 isoform 1 180 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(1) 1 Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743) all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137) CCCCACAGTTCGGTGGCATCA 0.468 MYCBP2 23077 broad.mit.edu 37 13 77642839 77642839 + Missense_Mutation SNP G G C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr13:77642839G>C uc001vkf.2 - 71 12009 c.11918C>G c.(11917-11919)GCC>GGC p.A3973G MYCBP2_uc010aev.2_Missense_Mutation_p.A3377G|MYCBP2_uc001vke.2_Missense_Mutation_p.A590G NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 3973 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) AAAGCAGTAGGCATCAGAGGA 0.478 SLITRK5 26050 broad.mit.edu 37 13 88329875 88329875 + Silent SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr13:88329875C>T uc001vln.2 + 2 2451 c.2232C>T c.(2230-2232)CCC>CCT p.P744P SLITRK5_uc010tic.1_Silent_p.P503P NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 744 Cytoplasmic (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) TGAAGACGCCCGCGGGCCACG 0.657 FAM155A 728215 broad.mit.edu 37 13 108518852 108518852 + Missense_Mutation SNP A A T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr13:108518852A>T uc001vql.2 - 1 609 c.93T>A c.(91-93)GAT>GAA p.D31E NM_001080396 NP_001073865 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 31 integral to membrane binding skin(1) 1 CCCTCTCGGAATCGATGAACG 0.527 POTEG 404785 broad.mit.edu 37 14 19553567 19553567 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr14:19553567G>A uc001vuz.1 + 1 203 c.151G>A c.(151-153)GAT>AAT p.D51N POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 51 ovary(1) 1 AGACCACGACGATTCTGCTAT 0.602 MYH6 4624 broad.mit.edu 37 14 23856775 23856775 + Missense_Mutation SNP T T C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr14:23856775T>C uc001wjv.2 - 32 4680 c.4613A>G c.(4612-4614)GAG>GGG p.E1538G NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 1538 Potential. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CTCCAGCTTCTCCACCTCCAG 0.592 FOXG1 2290 broad.mit.edu 37 14 29237173 29237173 + Missense_Mutation SNP C C G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr14:29237173C>G uc001wqe.2 + 1 887 c.688C>G c.(688-690)CGC>GGC p.R230G NM_005249 NP_005240 P55316 FOXG1_HUMAN forkhead box G1 230 Fork-head. axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(2)|lung(2) 4 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) GAACTCCATCCGCCACAATCT 0.592 EIF2B2 8892 broad.mit.edu 37 14 75473366 75473366 + Missense_Mutation SNP C C G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr14:75473366C>G uc001xrc.1 + 6 862 c.780C>G c.(778-780)CAC>CAG p.H260Q NM_014239 NP_055054 P49770 EI2BB_HUMAN eukaryotic translation initiation factor 2B, 260 cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex ATP binding|GTP binding|protein binding|translation initiation factor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00661) CAGCAAAACACCATTCCACCC 0.517 MARK3 4140 broad.mit.edu 37 14 103928798 103928798 + Silent SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr14:103928798G>A uc001ymz.3 + 7 1206 c.540G>A c.(538-540)AAG>AAA p.K180K MARK3_uc001ymx.3_Silent_p.K180K|MARK3_uc001ymw.3_Silent_p.K180K|MARK3_uc001yna.3_Silent_p.K180K|MARK3_uc001ymy.3_Silent_p.K180K|MARK3_uc010awp.2_Silent_p.K203K NM_001128918 NP_001122390 P27448 MARK3_HUMAN MAP/microtubule affinity-regulating kinase 3 180 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(2)|ovary(1)|stomach(1) 4 Melanoma(154;0.155) Epithelial(46;0.241) GAGACCTCAAGGTGAGTAGAA 0.448 AHNAK2 113146 broad.mit.edu 37 14 105413100 105413100 + Silent SNP C C G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr14:105413100C>G uc010axc.1 - 7 8808 c.8688G>C c.(8686-8688)CTG>CTC p.L2896L AHNAK2_uc001ypx.2_Silent_p.L2796L NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2896 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GCACCTTGGGCAGGTGCCCTT 0.637 MKRN3 7681 broad.mit.edu 37 15 23811829 23811829 + Silent SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr15:23811829G>A uc001ywh.3 + 1 1376 c.900G>A c.(898-900)TCG>TCA p.S300S MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Silent_p.S300S NM_005664 NP_005655 Q13064 MKRN3_HUMAN makorin ring finger protein 3 300 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding lung(6)|large_intestine(2)|ovary(2) 10 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) TGGAACTCTCGTTTGCTGTGC 0.532 FMN1 342184 broad.mit.edu 37 15 33261313 33261313 + Missense_Mutation SNP A A C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr15:33261313A>C uc001zhf.3 - 4 1920 c.1920T>G c.(1918-1920)AAT>AAG p.N640K NM_001103184 NP_001096654 Q68DA7 FMN1_HUMAN formin 1 863 actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding ovary(1) 1 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) CCTTCTGCTGATTTGATGCCA 0.567 TGM5 9333 broad.mit.edu 37 15 43552469 43552469 + Missense_Mutation SNP T T A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr15:43552469T>A uc001zrd.1 - 3 225 c.217A>T c.(217-219)ACT>TCT p.T73S TGM5_uc001zre.1_Intron NM_201631 NP_963925 O43548 TGM5_HUMAN transglutaminase 5 isoform 1 73 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1) 1 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) ACAGCCCGAGTCCCCAAGGCC 0.642 DUOX1 53905 broad.mit.edu 37 15 45428734 45428735 + Missense_Mutation DNP GC GC TT rs147597074 TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr15:45428734_45428735GC>TT uc001zus.1 + 10 1279_1280 c.933_934GC>TT c.(931-936)CGGCCA>CGTTCA p.P312S DUOX1_uc001zut.1_Missense_Mutation_p.P312S|DUOX1_uc010bee.1_5'UTR NM_017434 NP_059130 Q9NRD9 DUOX1_HUMAN dual oxidase 1 precursor 312 Peroxidase-like; mediates peroxidase activity.|Extracellular (Potential). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity ovary(5)|skin(2)|breast(1) 8 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) CAGGATACCGGCCATTTCTGGA 0.589 KIAA1024 23251 broad.mit.edu 37 15 79748518 79748518 + Missense_Mutation SNP T T A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr15:79748518T>A uc002bew.1 + 2 104 c.29T>A c.(28-30)TTC>TAC p.F10Y KIAA1024_uc010unk.1_Missense_Mutation_p.F10Y NM_015206 NP_056021 Q9UPX6 K1024_HUMAN hypothetical protein LOC23251 10 integral to membrane pancreas(2)|ovary(1)|central_nervous_system(1) 4 ACTTCCCTCTTCTTGGTGAAG 0.458 AKAP13 11214 broad.mit.edu 37 15 86225415 86225415 + Missense_Mutation SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr15:86225415C>T uc002blv.1 + 15 5298 c.5128C>T c.(5128-5130)CAC>TAC p.H1710Y AKAP13_uc002blt.1_Missense_Mutation_p.H1692Y|AKAP13_uc002blu.1_Missense_Mutation_p.H1714Y|AKAP13_uc010bnf.1_Missense_Mutation_p.H332Y|AKAP13_uc002blw.1_Missense_Mutation_p.H177Y|AKAP13_uc002blx.1_5'UTR|AKAP13_uc010bne.1_Missense_Mutation_p.H363Y NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 1710 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1) 9 CAGTACCTTCCACAATACCAG 0.328 WDR93 56964 broad.mit.edu 37 15 90281389 90281389 + Missense_Mutation SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr15:90281389C>T uc002boj.2 + 16 1984 c.1883C>T c.(1882-1884)CCT>CTT p.P628L WDR93_uc010bnr.2_Missense_Mutation_p.P600L|WDR93_uc010upz.1_Missense_Mutation_p.P345L NM_020212 NP_064597 Q6P2C0 WDR93_HUMAN WD repeat domain 93 628 electron transport chain mitochondrial inner membrane oxidoreductase activity, acting on NADH or NADPH ovary(2) 2 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) TGTACCATTCCTCAAAGGGAC 0.458 OR2C1 4993 broad.mit.edu 37 16 3406257 3406257 + Missense_Mutation SNP G G C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr16:3406257G>C uc002cuw.1 + 1 369 c.317G>C c.(316-318)TGG>TCG p.W106S NM_012368 NP_036500 O95371 OR2C1_HUMAN olfactory receptor, family 2, subfamily C, 106 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GTCTTCCTTTGGCTGGGGGCC 0.572 TRAP1 10131 broad.mit.edu 37 16 3714317 3714317 + Silent SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr16:3714317C>T uc002cvt.3 - 13 1616 c.1527G>A c.(1525-1527)GAG>GAA p.E509E TRAP1_uc002cvs.2_Silent_p.E300E|TRAP1_uc010uxf.1_Silent_p.E456E|uc002cvu.2_RNA NM_016292 NP_057376 Q12931 TRAP1_HUMAN TNF receptor-associated protein 1 precursor 509 cellular response to oxidative stress|protein folding mitochondrion ATP binding|tumor necrosis factor receptor binding|unfolded protein binding central_nervous_system(1) 1 Ovarian(90;0.0261) AGGGTGAGTGCTCTGCCAGGT 0.647 PRM1 5619 broad.mit.edu 37 16 11375074 11375074 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr16:11375074G>A uc002dav.2 - 1 119 c.22C>T c.(22-24)CGC>TGC p.R8C C16orf75_uc002daq.1_Intron NM_002761 NP_002752 P04553 HSP1_HUMAN protamine 1 8 chromosome condensation|multicellular organismal development nucleoplasm|nucleosome DNA binding 0 CTCTGGCTGCGACAGCATCTG 0.602 TMCO7 79613 broad.mit.edu 37 16 68893968 68893968 + Missense_Mutation SNP G G T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr16:68893968G>T uc002ewi.3 + 2 288 c.276G>T c.(274-276)TGG>TGT p.W92C TMCO7_uc002ewh.2_Missense_Mutation_p.W92C NM_024562 NP_078838 Q9C0B7 TMCO7_HUMAN transmembrane and coiled-coil domains 7 92 integral to membrane binding 0 Ovarian(137;0.0568) OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198) ATGTCACTTGGAGTTTTACCT 0.433 DDX19B 11269 broad.mit.edu 37 16 70351425 70351425 + Missense_Mutation SNP A A G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr16:70351425A>G uc002eyo.2 + 5 452 c.323A>G c.(322-324)TAT>TGT p.Y108C DDX19B_uc010vly.1_Missense_Mutation_p.Y108C|DDX19A_uc002eys.2_Intron|DDX19B_uc010vlv.1_Intron|DDX19B_uc010vlw.1_5'UTR|DDX19B_uc002eyp.2_Intron|DDX19B_uc002eyq.2_5'UTR|DDX19B_uc002eyr.2_Intron|DDX19B_uc010vlx.1_Intron|uc002eyt.2_Intron NM_007242 NP_009173 Q9UMR2 DD19B_HUMAN DEAD (Asp-Glu-Ala-As) box polypeptide 19 isoform 108 Q motif. mRNA export from nucleus|protein transport|transmembrane transport cytoplasm|nuclear membrane|nuclear pore ATP binding|ATP-dependent helicase activity|protein binding|RNA binding kidney(1) 1 Ovarian(137;0.0694) CAAGGAGTCTATGCCATGGGT 0.413 CNTNAP4 85445 broad.mit.edu 37 16 76555129 76555129 + Missense_Mutation SNP T T C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr16:76555129T>C uc002feu.1 + 18 2843 c.2458T>C c.(2458-2460)TTT>CTT p.F820L CNTNAP4_uc002fev.1_Missense_Mutation_p.F684L|CNTNAP4_uc010chb.1_Missense_Mutation_p.F747L|CNTNAP4_uc002fex.1_Missense_Mutation_p.F823L NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 820 Extracellular (Potential).|Laminin G-like 3. cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 TGTATCTTTCTTTTTTAAGAC 0.403 ADAMTS18 170692 broad.mit.edu 37 16 77327122 77327122 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr16:77327122G>A uc002ffc.3 - 20 3459 c.3040C>T c.(3040-3042)CGT>TGT p.R1014C ADAMTS18_uc010chc.1_Missense_Mutation_p.R602C NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 1014 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 AGGAGTTCACGCTTCCTCACC 0.512 CCDC42 146849 broad.mit.edu 37 17 8647423 8647423 + Missense_Mutation SNP G G T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr17:8647423G>T uc002gln.2 - 2 390 c.163C>A c.(163-165)CAT>AAT p.H55N CCDC42_uc002glo.2_Missense_Mutation_p.H55N NM_144681 NP_653282 Q96M95 CCD42_HUMAN coiled-coil domain containing 42 isoform 1 55 Potential. ovary(1) 1 ATAGTTTGATGCATGATTTCT 0.562 MYH13 8735 broad.mit.edu 37 17 10233733 10233733 + Silent SNP C C G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr17:10233733C>G uc002gmk.1 - 21 2496 c.2406G>C c.(2404-2406)CGG>CGC p.R802R NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 802 IQ. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 TGAACTCCACCCGCATCAGGT 0.547 MYH13 8735 broad.mit.edu 37 17 10258081 10258081 + Silent SNP G G C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr17:10258081G>C uc002gmk.1 - 11 1011 c.921C>G c.(919-921)ACC>ACG p.T307T NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 307 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 CGAAGGGGTTGGTGGAGATCA 0.468 MYH1 4619 broad.mit.edu 37 17 10404711 10404711 + Missense_Mutation SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr17:10404711C>T uc002gmo.2 - 27 3548 c.3454G>A c.(3454-3456)GAG>AAG p.E1152K uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1152 Potential. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 TCCAGCCTCTCGCTGATCTCC 0.617 MAP2K3 5606 broad.mit.edu 37 17 21202209 21202209 + Missense_Mutation SNP T T C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr17:21202209T>C uc002gys.2 + 3 401 c.136T>C c.(136-138)TCC>CCC p.S46P MAP2K3_uc002gyt.2_Missense_Mutation_p.S17P|MAP2K3_uc002gyu.2_Missense_Mutation_p.S17P NM_145109 NP_659731 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 46 activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) GAACCTGGACTCCCGGACCTT 0.617 EFTUD2 9343 broad.mit.edu 37 17 42929086 42929086 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr17:42929086G>A uc002ihn.2 - 27 3076 c.2815C>T c.(2815-2817)CGT>TGT p.R939C EFTUD2_uc010wje.1_Missense_Mutation_p.R904C|EFTUD2_uc010wjf.1_Missense_Mutation_p.R929C NM_004247 NP_004238 Q15029 U5S1_HUMAN elongation factor Tu GTP binding domain 939 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding ovary(1) 1 Prostate(33;0.109) ACCTTCCTACGGCGGGTTTTG 0.562 TBKBP1 9755 broad.mit.edu 37 17 45773677 45773677 + Missense_Mutation SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr17:45773677C>T uc002ilu.2 + 1 1048 c.199C>T c.(199-201)CGC>TGC p.R67C NM_014726 NP_055541 A7MCY6 TBKB1_HUMAN TBK1 binding protein 1 67 Potential. innate immune response 0 CACCCTCCGACGCCGCCTCAA 0.602 TEX14 56155 broad.mit.edu 37 17 56651574 56651574 + Silent SNP T T C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr17:56651574T>C uc010dcz.1 - 23 3613 c.3495A>G c.(3493-3495)TCA>TCG p.S1165S TEX14_uc002iwr.1_Silent_p.S1159S|TEX14_uc002iws.1_Silent_p.S1119S|TEX14_uc010dda.1_Silent_p.S899S NM_198393 NP_938207 Q8IWB6 TEX14_HUMAN testis expressed sequence 14 isoform a 1165 cytoplasm ATP binding|protein kinase activity stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1) 17 Medulloblastoma(34;0.127)|all_neural(34;0.237) GTTCCTTTGGTGACTCCTTTG 0.358 ENGASE 64772 broad.mit.edu 37 17 77082221 77082221 + Silent SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr17:77082221G>A uc002jwv.2 + 14 2030 c.2022G>A c.(2020-2022)CCG>CCA p.P674P ENGASE_uc002jww.2_Silent_p.P379P NM_001042573 NP_001036038 Q8NFI3 ENASE_HUMAN endo-beta-N-acetylglucosaminidase 674 cytosol mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity skin(1) 1 ATGACTCTCCGGGCAGGGAGC 0.632 DSG3 1830 broad.mit.edu 37 18 29038467 29038467 + Silent SNP C C A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr18:29038467C>A uc002kws.2 + 4 385 c.276C>A c.(274-276)ATC>ATA p.I92I NM_001944 NP_001935 P32926 DSG3_HUMAN desmoglein 3 preproprotein 92 Extracellular (Potential).|Cadherin 1. cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding skin(4)|ovary(3)|lung(1)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GAGTGGGAATCGATCAGCCGC 0.438 CNDP2 55748 broad.mit.edu 37 18 72168606 72168606 + Missense_Mutation SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr18:72168606C>T uc002llm.1 + 3 265 c.103C>T c.(103-105)CCG>TCG p.P35S CNDP2_uc002lln.1_Missense_Mutation_p.P35S|CNDP2_uc002llo.2_Missense_Mutation_p.P35S NM_018235 NP_060705 Q96KP4 CNDP2_HUMAN CNDP dipeptidase 2 35 cytoplasm carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity ovary(2)|skin(1) 3 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.22) GTCTGCGTGGCCGGAGAAGAG 0.502 MUC16 94025 broad.mit.edu 37 19 9058529 9058529 + Silent SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr19:9058529G>A uc002mkp.2 - 3 29121 c.28917C>T c.(28915-28917)GAC>GAT p.D9639D NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 9641 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 CATCGGAGATGTCTAGTGACA 0.502 NWD1 284434 broad.mit.edu 37 19 16872810 16872810 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr19:16872810G>A uc002neu.3 + 8 2416 c.1994G>A c.(1993-1995)CGT>CAT p.R665H NWD1_uc002net.3_Missense_Mutation_p.R530H|NWD1_uc002nev.3_Missense_Mutation_p.R459H Q149M9 NWD1_HUMAN RecName: Full=NACHT and WD repeat domain-containing protein 1; 665 ATP binding skin(3)|ovary(2)|pancreas(2) 7 GAGGTGGTCCGTGAGCGCTAC 0.572 CPAMD8 27151 broad.mit.edu 37 19 17088219 17088219 + Missense_Mutation SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr19:17088219C>T uc002nfb.2 - 15 1890 c.1858G>A c.(1858-1860)GAC>AAC p.D620N NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain 573 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1) 13 TGAAGGCTGTCGGCGACCCCT 0.597 FCGBP 8857 broad.mit.edu 37 19 40419757 40419757 + Missense_Mutation SNP A A C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr19:40419757A>C uc002omp.3 - 6 3245 c.3237T>G c.(3235-3237)CAT>CAG p.H1079Q NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 1079 VWFD 2. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CCAGCTTGCTATGGCACTCCC 0.642 PRX 57716 broad.mit.edu 37 19 40900837 40900837 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr19:40900837G>A uc002onr.2 - 7 3691 c.3422C>T c.(3421-3423)GCG>GTG p.A1141V PRX_uc002onq.2_Missense_Mutation_p.A1002V|PRX_uc002ons.2_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN periaxin isoform 2 1141 Glu-rich (acidic). axon ensheathment cytoplasm|nucleus|plasma membrane protein binding ovary(2) 2 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) CCTCAGCCCCGCGTCATGGCC 0.667 ZNF114 163071 broad.mit.edu 37 19 48789445 48789445 + Silent SNP G G A rs151202823 byFrequency TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr19:48789445G>A uc002pil.1 + 6 1061 c.564G>A c.(562-564)CCG>CCA p.P188P ZNF114_uc010elv.1_Silent_p.P188P|ZNF114_uc002pim.1_Silent_p.P188P|ZNF114_uc002pin.2_Silent_p.P154P NM_153608 NP_705836 Q8NC26 ZN114_HUMAN zinc finger protein 114 188 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153) AGTGGGTTCCGTGTGGGAGAA 0.438 PEG3 5178 broad.mit.edu 37 19 57328018 57328018 + Missense_Mutation SNP G G A rs138383423 TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr19:57328018G>A uc002qnu.2 - 7 2143 c.1792C>T c.(1792-1794)CGT>TGT p.R598C ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.R569C|PEG3_uc002qnv.2_Missense_Mutation_p.R598C|PEG3_uc002qnw.2_Missense_Mutation_p.R474C|PEG3_uc002qnx.2_Missense_Mutation_p.R472C|PEG3_uc010etr.2_Missense_Mutation_p.R598C NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 598 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) tcacgttcacgttcatgttca 0.378 TPO 7173 broad.mit.edu 37 2 1426885 1426885 + Missense_Mutation SNP T T C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr2:1426885T>C uc002qww.2 + 3 254 c.163T>C c.(163-165)TAC>CAC p.Y55H TPO_uc010ewj.2_Intron|TPO_uc010yin.1_Missense_Mutation_p.Y55H|TPO_uc002qwu.2_Missense_Mutation_p.Y55H|TPO_uc002qwr.2_Missense_Mutation_p.Y55H|TPO_uc002qwx.2_Missense_Mutation_p.Y55H|TPO_uc010yio.1_Missense_Mutation_p.Y55H|TPO_uc010yip.1_Missense_Mutation_p.Y55H NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 55 Extracellular (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CACCGCCATGTACGCCACGAT 0.597 OTOF 9381 broad.mit.edu 37 2 26697430 26697430 + Missense_Mutation SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr2:26697430C>T uc002rhk.2 - 26 3366 c.3239G>A c.(3238-3240)CGT>CAT p.R1080H OTOF_uc010yla.1_5'Flank|OTOF_uc002rhh.2_Missense_Mutation_p.R333H|OTOF_uc002rhi.2_Missense_Mutation_p.R390H|OTOF_uc002rhj.2_Missense_Mutation_p.R333H NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 1080 Cytoplasmic (Potential). cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGCGTTGCCACGGTAGATCTG 0.527 NRXN1 9378 broad.mit.edu 37 2 50573836 50573836 + Silent SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr2:50573836G>A uc010fbp.2 - 1 1059 c.252C>T c.(250-252)GGC>GGT p.G84G NRXN1_uc002rxb.3_Intron|NRXN1_uc010fbq.2_Intron|NRXN1_uc002rxe.3_Intron|NRXN1_uc002rxc.1_Intron NM_138735 NP_620072 P58400 NRX1B_HUMAN neurexin 1 isoform beta precursor 84 Extracellular (Potential). angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CACCGTGTCCGCCTCGCAAGG 0.572 VPS54 51542 broad.mit.edu 37 2 64211037 64211037 + Missense_Mutation SNP C C G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr2:64211037C>G uc002scq.2 - 2 260 c.97G>C c.(97-99)GTG>CTG p.V33L VPS54_uc002scp.2_Missense_Mutation_p.V33L NM_016516 NP_057600 Q9P1Q0 VPS54_HUMAN vacuolar protein sorting 54 isoform 1 33 protein transport|retrograde transport, endosome to Golgi 0 AGTGATGGCACAGGTCGAATG 0.403 SPRED2 200734 broad.mit.edu 37 2 65571938 65571938 + Missense_Mutation SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr2:65571938C>T uc002sdr.3 - 2 654 c.119G>A c.(118-120)CGC>CAC p.R40H SPRED2_uc010fcw.2_Missense_Mutation_p.R37H|SPRED2_uc010fcx.1_RNA NM_181784 NP_861449 Q7Z698 SPRE2_HUMAN sprouty-related protein with EVH-1 domain 2 40 WH1. inactivation of MAPK activity|multicellular organismal development transport vesicle membrane stem cell factor receptor binding ovary(1)|lung(1)|central_nervous_system(1) 3 GACCCCGACGCGACTGATCCC 0.532 DYSF 8291 broad.mit.edu 37 2 71795434 71795434 + Missense_Mutation SNP T T C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr2:71795434T>C uc002sie.2 + 26 3152 c.2776T>C c.(2776-2778)TGG>CGG p.W926R DYSF_uc010feg.2_Missense_Mutation_p.W957R|DYSF_uc010feh.2_Missense_Mutation_p.W912R|DYSF_uc002sig.3_Missense_Mutation_p.W912R|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.W926R|DYSF_uc010fef.2_Missense_Mutation_p.W943R|DYSF_uc010fei.2_Missense_Mutation_p.W943R|DYSF_uc010fek.2_Missense_Mutation_p.W944R|DYSF_uc010fej.2_Missense_Mutation_p.W913R|DYSF_uc010fel.2_Missense_Mutation_p.W913R|DYSF_uc010feo.2_Missense_Mutation_p.W958R|DYSF_uc010fem.2_Missense_Mutation_p.W927R|DYSF_uc010fen.2_Missense_Mutation_p.W944R|DYSF_uc002sif.2_Missense_Mutation_p.W927R NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 926 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 CGGCTGGACCTGGGCTGGAGA 0.647 INPP4A 3631 broad.mit.edu 37 2 99204053 99204053 + Silent SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr2:99204053C>T uc002syy.2 + 26 3309 c.2916C>T c.(2914-2916)TAC>TAT p.Y972Y INPP4A_uc010yvk.1_Silent_p.Y933Y|INPP4A_uc002syx.2_Silent_p.Y967Y|INPP4A_uc010fik.2_Silent_p.Y301Y NM_001134224 NP_001127696 Q96PE3 INP4A_HUMAN inositol polyphosphate-4-phosphatase, type 1 972 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity kidney(1) 1 AAGGGACTTACGGAAAAGTTG 0.408 TANC1 85461 broad.mit.edu 37 2 160020039 160020039 + Missense_Mutation SNP C C G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr2:160020039C>G uc002uag.2 + 8 1202 c.928C>G c.(928-930)CGG>GGG p.R310G TANC1_uc010fol.1_Missense_Mutation_p.R204G|TANC1_uc010zcm.1_Missense_Mutation_p.R309G|TANC1_uc010fom.1_Intron NM_033394 NP_203752 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and 310 cell junction|postsynaptic density|postsynaptic membrane binding ovary(2)|central_nervous_system(1) 3 AATAATGCCACGGCCCAACTC 0.547 TTN 7273 broad.mit.edu 37 2 179398445 179398445 + Silent SNP T T C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr2:179398445T>C uc010zfg.1 - 307 95417 c.95193A>G c.(95191-95193)AAA>AAG p.K31731K uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.K25426K|TTN_uc010zfi.1_Silent_p.K25359K|TTN_uc010zfj.1_Silent_p.K25234K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 32658 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) TGTCACCTGGTTTGATTTTCT 0.393 TTN 7273 broad.mit.edu 37 2 179600768 179600768 + Missense_Mutation SNP T T G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr2:179600768T>G uc010zfg.1 - 47 10897 c.10673A>C c.(10672-10674)AAG>ACG p.K3558T TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K219T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 4485 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) TGTAAGGGACTTAGGTCTGGA 0.438 TTN 7273 broad.mit.edu 37 2 179658255 179658255 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr2:179658255G>A uc010zfg.1 - 9 1636 c.1412C>T c.(1411-1413)GCG>GTG p.A471V TTN_uc010zfh.1_Missense_Mutation_p.A471V|TTN_uc010zfi.1_Missense_Mutation_p.A471V|TTN_uc010zfj.1_Missense_Mutation_p.A471V|TTN_uc002unb.2_Missense_Mutation_p.A471V|TTN_uc010frg.1_Missense_Mutation_p.A145V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 471 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) AGTCTTCTCCGCTTCCTTTCT 0.313 SESTD1 91404 broad.mit.edu 37 2 180047841 180047841 + Missense_Mutation SNP T T G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr2:180047841T>G uc002uni.3 - 3 280 c.130A>C c.(130-132)AGT>CGT p.S44R NM_178123 NP_835224 Q86VW0 SESD1_HUMAN SEC14 and spectrin domains 1 44 CRAL-TRIO. regulation of calcium ion transport via voltage-gated calcium channel activity phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147) AAGGTGACACTCAGCTCATCC 0.358 MAP2 4133 broad.mit.edu 37 2 210559425 210559425 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr2:210559425G>A uc002vde.1 + 7 2779 c.2531G>A c.(2530-2532)CGT>CAT p.R844H MAP2_uc002vdc.1_Missense_Mutation_p.R844H|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.R840H NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 844 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) GAGGATAGTCGTACTGGCTTG 0.498 MAP2 4133 broad.mit.edu 37 2 210560109 210560109 + Missense_Mutation SNP T T G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr2:210560109T>G uc002vde.1 + 7 3463 c.3215T>G c.(3214-3216)CTT>CGT p.L1072R MAP2_uc002vdc.1_Missense_Mutation_p.L1072R|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.L1068R NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 1072 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) GAGCTAAAACTTGAGGCTACA 0.458 ABCA12 26154 broad.mit.edu 37 2 215802240 215802240 + Silent SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr2:215802240G>A uc002vew.2 - 51 7756 c.7536C>T c.(7534-7536)TAC>TAT p.Y2512Y ABCA12_uc002vev.2_Silent_p.Y2194Y|ABCA12_uc010zjn.1_Silent_p.Y1439Y NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 2512 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 11 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TTACTTTTAAGTATGTTTTTG 0.229 KIF1A 547 broad.mit.edu 37 2 241683440 241683440 + Missense_Mutation SNP A A T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr2:241683440A>T uc002vzy.2 - 31 3346 c.3200T>A c.(3199-3201)ATC>AAC p.I1067N KIF1A_uc010fzk.2_Missense_Mutation_p.I1168N|KIF1A_uc002vzz.1_Missense_Mutation_p.I1168N NM_004321 NP_004312 Q12756 KIF1A_HUMAN axonal transport of synaptic vesicles 1067 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity lung(1) 1 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) CTGGCTCTTGATGTACTCAAT 0.612 SLC4A11 83959 broad.mit.edu 37 20 3210393 3210393 + Missense_Mutation SNP A A C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr20:3210393A>C uc002wig.2 - 13 1615 c.1567T>G c.(1567-1569)TTG>GTG p.L523V SLC4A11_uc010zqe.1_Missense_Mutation_p.L550V|SLC4A11_uc002wih.2_Intron|SLC4A11_uc010zqf.1_Missense_Mutation_p.L507V NM_032034 NP_114423 Q8NBS3 S4A11_HUMAN solute carrier family 4 member 11 523 Extracellular (Potential).|Membrane (bicarbonate transporter). cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity ovary(1) 1 TAGTCGTCCAAGTAATGCCCA 0.597 SEL1L2 80343 broad.mit.edu 37 20 13850192 13850192 + Silent SNP T T C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr20:13850192T>C uc010gcf.2 - 14 1294 c.1212A>G c.(1210-1212)AAA>AAG p.K404K SEL1L2_uc002woq.3_Silent_p.K265K|SEL1L2_uc010zrl.1_Silent_p.K404K|SEL1L2_uc002wor.2_RNA NM_025229 NP_079505 Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 precursor 404 Extracellular (Potential).|Sel1-like 7. integral to membrane binding ovary(2) 2 CGGGCCACCCTTTTTCCGCAG 0.393 RRBP1 6238 broad.mit.edu 37 20 17601012 17601012 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr20:17601012G>A uc002wpv.1 - 19 2566 c.2212C>T c.(2212-2214)CGG>TGG p.R738W RRBP1_uc010zrp.1_5'Flank|RRBP1_uc002wpt.1_Missense_Mutation_p.R108W|RRBP1_uc002wpu.2_Missense_Mutation_p.R512W|RRBP1_uc002wpw.1_Missense_Mutation_p.R738W|RRBP1_uc010gcl.1_Missense_Mutation_p.R512W|RRBP1_uc010gcm.1_3'UTR NM_001042576 NP_001036041 Q9P2E9 RRBP1_HUMAN ribosome binding protein 1 1171 Cytoplasmic (Potential). protein transport|translation|transmembrane transport integral to endoplasmic reticulum membrane|ribosome receptor activity ovary(1) 1 ACTGTGACCCGGGACTACAAA 0.537 DNMT3B 1789 broad.mit.edu 37 20 31385049 31385049 + Nonsense_Mutation SNP C C A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr20:31385049C>A uc002wyc.2 + 14 1755 c.1434C>A c.(1432-1434)TGC>TGA p.C478* DNMT3B_uc010ztx.1_RNA|DNMT3B_uc010zty.1_RNA|DNMT3B_uc002wyd.2_Nonsense_Mutation_p.C458*|DNMT3B_uc002wye.2_Nonsense_Mutation_p.C458*|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Nonsense_Mutation_p.C416*|DNMT3B_uc010zua.1_Nonsense_Mutation_p.C382*|DNMT3B_uc002wyf.2_Nonsense_Mutation_p.C470*|DNMT3B_uc002wyg.2_Nonsense_Mutation_p.C177* NM_006892 NP_008823 Q9UBC3 DNM3B_HUMAN DNA cytosine-5 methyltransferase 3 beta isoform 478 PHD-type; atypical.|Interaction with the PRC2/EED-EZH2 complex (By similarity).|ADD. negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity lung(3)|ovary(2) 5 AGTCTTACTGCACTGTGTGCT 0.572 EIF2S2 8894 broad.mit.edu 37 20 32677677 32677677 + Silent SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr20:32677677C>T uc002xaf.2 - 9 1030 c.861G>A c.(859-861)CCG>CCA p.P287P EIF2S2_uc002xag.2_Silent_p.P284P|EIF2S2_uc010ges.2_Silent_p.P227P NM_003908 NP_003899 P20042 IF2B_HUMAN eukaryotic translation initiation factor 2 beta 287 C4-type (Potential). cytosol|eukaryotic translation initiation factor 2 complex metal ion binding|protein binding|translation initiation factor activity large_intestine(1) 1 GGATTGTGTCCGGTGATCGGC 0.468 ITCH 83737 broad.mit.edu 37 20 33068998 33068998 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr20:33068998G>A uc010geu.1 + 21 2395 c.2203G>A c.(2203-2205)GAG>AAG p.E735K ITCH_uc002xak.2_Missense_Mutation_p.E694K|ITCH_uc010zuj.1_Missense_Mutation_p.E584K NM_031483 NP_113671 Q96J02 ITCH_HUMAN itchy homolog E3 ubiquitin protein ligase 735 HECT. apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus cytosol|nucleus|plasma membrane CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity breast(4)|lung(1)|central_nervous_system(1) 6 AGAAAATAAAGAGGAATACAT 0.348 DDX27 55661 broad.mit.edu 37 20 47838054 47838054 + Silent SNP T T C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr20:47838054T>C uc002xuh.2 + 2 313 c.252T>C c.(250-252)CCT>CCC p.P84P NM_017895 NP_060365 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 84 Asp/Glu/Lys-rich. nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding kidney(2) 2 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) ATTTCAACCCTGATTTCGTTT 0.532 MC3R 4159 broad.mit.edu 37 20 54823941 54823941 + Silent SNP G G T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr20:54823941G>T uc002xxb.2 + 1 154 c.42G>T c.(40-42)CTG>CTT p.L14L NM_019888 NP_063941 P41968 MC3R_HUMAN melanocortin 3 receptor 51 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding ovary(2)|breast(2) 4 Colorectal(105;0.202) AGCCAACACTGCCTAATGGCT 0.587 C20orf43 51507 broad.mit.edu 37 20 55059238 55059238 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr20:55059238G>A uc002xxt.2 + 5 577 c.470G>A c.(469-471)TGC>TAC p.C157Y C20orf43_uc010zzf.1_Missense_Mutation_p.C187Y|C20orf43_uc002xxu.2_Missense_Mutation_p.C157Y|C20orf43_uc002xxv.2_Missense_Mutation_p.C157Y NM_016407 NP_057491 Q9BY42 CT043_HUMAN hypothetical protein LOC51507 157 ovary(1) 1 Colorectal(105;0.202) GCGGAAGTTTGCCACACGGTG 0.478 BMP7 655 broad.mit.edu 37 20 55746147 55746147 + Silent SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr20:55746147C>T uc010gip.1 - 7 1693 c.1164G>A c.(1162-1164)CCG>CCA p.P388P BMP7_uc010giq.1_Silent_p.P322P NM_001719 NP_001710 P18075 BMP7_HUMAN bone morphogenetic protein 7 precursor 388 BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development extracellular space cytokine activity|growth factor activity skin(1) 1 all_lung(29;0.0133)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07) GCACCGTTTCCGGGTTGATGA 0.517 TPTE 7179 broad.mit.edu 37 21 10971337 10971337 + Missense_Mutation SNP G G A rs149877959 byFrequency TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr21:10971337G>A uc002yip.1 - 5 388 c.20C>T c.(19-21)CCG>CTG p.P7L TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.P7L|TPTE_uc002yir.1_Missense_Mutation_p.P7L|TPTE_uc010gkv.1_Intron NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 7 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CAGGTCAGTCGGATCAGGACT 0.373 PDE9A 5152 broad.mit.edu 37 21 44179168 44179168 + Missense_Mutation SNP C C G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr21:44179168C>G uc002zbm.2 + 11 933 c.870C>G c.(868-870)ATC>ATG p.I290M PDE9A_uc002zbn.2_Missense_Mutation_p.I163M|PDE9A_uc002zbo.2_Missense_Mutation_p.I237M|PDE9A_uc002zbp.2_Missense_Mutation_p.I83M|PDE9A_uc002zbq.2_Missense_Mutation_p.I188M|PDE9A_uc002zbs.2_Missense_Mutation_p.I83M|PDE9A_uc002zbr.2_Missense_Mutation_p.I83M|PDE9A_uc002zbt.2_Missense_Mutation_p.I162M|PDE9A_uc002zbu.2_Missense_Mutation_p.I156M|PDE9A_uc002zbv.2_Missense_Mutation_p.I130M|PDE9A_uc002zbw.2_Missense_Mutation_p.I73M|PDE9A_uc002zbx.2_Missense_Mutation_p.I230M|PDE9A_uc002zby.2_Missense_Mutation_p.I73M|PDE9A_uc002zbz.2_Missense_Mutation_p.I182M|PDE9A_uc002zca.2_Missense_Mutation_p.I249M|PDE9A_uc002zcb.2_Missense_Mutation_p.I264M|PDE9A_uc002zcc.2_Missense_Mutation_p.I189M|PDE9A_uc002zcd.2_Missense_Mutation_p.I204M|PDE9A_uc002zce.2_Missense_Mutation_p.I223M|PDE9A_uc002zcf.2_Missense_Mutation_p.I83M|PDE9A_uc002zcg.2_Missense_Mutation_p.I83M|PDE9A_uc002zch.2_Missense_Mutation_p.I73M|PDE9A_uc010gpf.1_Missense_Mutation_p.I83M NM_002606 NP_002597 O76083 PDE9A_HUMAN phosphodiesterase 9A isoform a 290 Catalytic (By similarity). platelet activation|signal transduction cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding ovary(1)|skin(1) 2 ACTTCAGCATCAACCCTGTCA 0.587 BCR 613 broad.mit.edu 37 22 23632583 23632583 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr22:23632583G>A uc002zww.2 + 14 3361 c.2765G>A c.(2764-2766)GGA>GAA p.G922E BCR_uc002zwx.2_Missense_Mutation_p.G922E|BCR_uc011aiy.1_Missense_Mutation_p.G511E|BCR_uc002zwy.1_3'UTR NM_004327 NP_004318 P11274 BCR_HUMAN breakpoint cluster region isoform 1 922 C2. regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity BCR/JAK2(6) haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)|lung(1)|skin(1) 12 TCAGCCACTGGATTTAAGCAG 0.562 T ABL1| FGFR1|JAK2 CML|ALL|AML OREG0026390 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ISX 91464 broad.mit.edu 37 22 35481614 35481614 + Silent SNP T T G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr22:35481614T>G uc003anj.2 + 4 1617 c.666T>G c.(664-666)ACT>ACG p.T222T ISX_uc011amg.1_Silent_p.T210T NM_001008494 NP_001008494 Q2M1V0 ISX_HUMAN intestine-specific homeobox 222 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2) 5 TCCATCAAACTTGCATCCCTG 0.557 SEPT3 55964 broad.mit.edu 37 22 42383244 42383244 + Silent SNP C C T rs77263193 byFrequency TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr22:42383244C>T uc003bbr.3 + 4 504 c.366C>T c.(364-366)ACC>ACT p.T122T WBP2NL_uc011ape.1_Intron|SEPT3_uc003bbs.3_Silent_p.T122T|SEPT3_uc010gyr.2_Silent_p.T58T|SEPT3_uc011apj.1_Silent_p.T58T|SEPT3_uc010gys.2_Intron NM_145733 NP_663786 Q9UH03 SEPT3_HUMAN septin 3 isoform A 122 cell cycle|cytokinesis cell junction|septin complex GTP binding 0 TGAAGCTGACCGTCATCGACA 0.502 SCUBE1 80274 broad.mit.edu 37 22 43610151 43610151 + Silent SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr22:43610151G>A uc003bdt.1 - 16 2086 c.1998C>T c.(1996-1998)TGC>TGT p.C666C NM_173050 NP_766638 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 666 adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 5 all_neural(38;0.0414)|Ovarian(80;0.07) CGCTGCTGGGGCACGGTGTGC 0.652 GHRL 51738 broad.mit.edu 37 3 10331490 10331490 + Missense_Mutation SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr3:10331490C>T uc010hdf.2 - 3 316 c.181G>A c.(181-183)GAT>AAT p.D61N GHRLOS_uc011atx.1_Intron|GHRLOS_uc011aty.1_Intron|GHRLOS_uc011atz.1_Intron|GHRLOS_uc011aua.1_Intron|GHRLOS_uc010hdl.2_Intron|GHRLOS_uc011aub.1_Intron|GHRLOS_uc010hdm.2_Intron|GHRLOS_uc011auc.1_Intron|GHRLOS_uc011aud.1_Intron|GHRLOS_uc011aue.1_Intron|GHRLOS_uc011auf.1_Intron|GHRLOS_uc011aug.1_Intron|GHRLOS_uc011auh.1_Intron|GHRLOS_uc011aui.1_Intron|GHRLOS_uc011auj.1_Intron|GHRLOS_uc010hdn.2_Intron|GHRL_uc010hda.1_RNA|GHRL_uc010hdb.1_RNA|GHRL_uc003bvj.1_Missense_Mutation_p.D61N|GHRL_uc003bvk.3_RNA|GHRL_uc010hdk.2_Missense_Mutation_p.D48N|GHRL_uc010hdc.2_Intron|GHRL_uc010hdd.2_Intron|GHRL_uc010hde.2_Missense_Mutation_p.D60N|GHRL_uc010hdi.2_Missense_Mutation_p.D61N|GHRL_uc010hdh.2_Missense_Mutation_p.D61N|GHRL_uc010hdj.2_Missense_Mutation_p.D49N|GHRLOS_uc011auk.1_Intron NM_016362 NP_057446 Q9UBU3 GHRL_HUMAN ghrelin/obestatin isoform 1 preproprotein 61 actin polymerization or depolymerization|activation of MAPK activity|adult feeding behavior|cartilage development|cortisol secretion|decidualization|dendrite development|elevation of cytosolic calcium ion concentration|G-protein coupled receptor protein signaling pathway|glucose metabolic process|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of angiogenesis|negative regulation of circadian sleep/wake cycle, REM sleep|negative regulation of endothelial cell proliferation|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of circadian sleep/wake cycle, non-REM sleep|positive regulation of corticotropin secretion|positive regulation of cortisol secretion|positive regulation of growth hormone secretion|positive regulation of insulin secretion|positive regulation of synaptogenesis|response to estrogen stimulus axon|endoplasmic reticulum lumen|extracellular space|stored secretory granule ghrelin receptor binding|growth hormone-releasing hormone activity|protein tyrosine kinase activator activity ovary(1) 1 TGACCTCCATCTTCCGGGCGG 0.597 ANKRD28 23243 broad.mit.edu 37 3 15736313 15736313 + Missense_Mutation SNP T T A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr3:15736313T>A uc003caj.1 - 17 1747 c.1604A>T c.(1603-1605)GAA>GTA p.E535V ANKRD28_uc003cai.1_Missense_Mutation_p.E381V|ANKRD28_uc011avz.1_Missense_Mutation_p.E381V|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Missense_Mutation_p.E565V|ANKRD28_uc003cam.2_Missense_Mutation_p.E568V NM_015199 NP_056014 O15084 ANR28_HUMAN ankyrin repeat domain 28 535 nucleoplasm protein binding breast(1) 1 TCCTGAGGTTTCCATTAACTG 0.408 ZNF662 389114 broad.mit.edu 37 3 42956441 42956441 + Silent SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr3:42956441G>A uc003cmi.2 + 5 1228 c.876G>A c.(874-876)ACG>ACA p.T292T ZNF662_uc003cmk.2_Silent_p.T318T|ZNF662_uc003cmj.2_Silent_p.T184T NM_207404 NP_997287 Q6ZS27 ZN662_HUMAN zinc finger protein 662 isoform 1 292 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(284;0.217) CAAGCCTTACGCAACATCAAC 0.453 FAM19A4 151647 broad.mit.edu 37 3 68802041 68802041 + Missense_Mutation SNP T T G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr3:68802041T>G uc003dnh.1 - 4 702 c.259A>C c.(259-261)ACT>CCT p.T87P FAM19A4_uc003dni.1_Missense_Mutation_p.T87P NM_182522 NP_872328 Q96LR4 F19A4_HUMAN family with sequence similarity 19 (chemokine 87 extracellular region skin(2) 2 Lung NSC(201;0.0198) BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904) TGAGCCCGAGTTGTGCCCGCC 0.522 ADCY5 111 broad.mit.edu 37 3 123166565 123166565 + Silent SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr3:123166565G>A uc003egh.1 - 1 828 c.828C>T c.(826-828)GCC>GCT p.A276A NM_183357 NP_899200 O95622 ADCY5_HUMAN adenylate cyclase 5 276 Helical; (Potential). activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4) 4 GBM - Glioblastoma multiforme(114;0.0342) CGCCGACGGCGGCCGCCAGCA 0.692 SMC4 10051 broad.mit.edu 37 3 160137276 160137276 + Missense_Mutation SNP A A G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr3:160137276A>G uc003fdh.2 + 12 1915 c.1802A>G c.(1801-1803)GAT>GGT p.D601G IFT80_uc003fda.2_Intron|SMC4_uc010hwc.1_Missense_Mutation_p.D365G|SMC4_uc003fdi.2_Missense_Mutation_p.D576G|SMC4_uc003fdj.2_Missense_Mutation_p.D601G|SMC4_uc010hwd.2_Missense_Mutation_p.D601G|SMC4_uc003fdl.2_Missense_Mutation_p.D304G NM_001002800 NP_001002800 Q9NTJ3 SMC4_HUMAN SMC4 structural maintenance of chromosomes 601 Flexible hinge. cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity ovary(1)|breast(1) 2 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) AAAGTCCTTGATGCAATAATT 0.338 GP5 2814 broad.mit.edu 37 3 194118890 194118890 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr3:194118890G>A uc003ftv.1 - 2 153 c.122C>T c.(121-123)GCG>GTG p.A41V NM_004488 NP_004479 P40197 GPV_HUMAN glycoprotein V (platelet) precursor 41 LRRNT.|Extracellular (Potential). blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane skin(2)|breast(1) 3 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) GGAGATGCGCGCCACGTCGCC 0.701 CRIPAK 285464 broad.mit.edu 37 4 1388597 1388597 + Missense_Mutation SNP G G A rs75969203 TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr4:1388597G>A uc003gdf.2 + 1 3258 c.298G>A c.(298-300)GTG>ATG p.V100M NM_175918 NP_787114 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 100 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding 0 OV - Ovarian serous cystadenocarcinoma(23;0.0106) GCTCACACACGTGCCCATGTG 0.647 D4S234E 27065 broad.mit.edu 37 4 4419002 4419002 + Missense_Mutation SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr4:4419002C>T uc011bvz.1 + 8 1679 c.398C>T c.(397-399)GCG>GTG p.A133V D4S234E_uc011bwa.1_Missense_Mutation_p.A94V|D4S234E_uc003ghz.2_Missense_Mutation_p.A133V|D4S234E_uc003gia.2_Missense_Mutation_p.A133V|D4S234E_uc003gib.2_Missense_Mutation_p.A133V NM_014392 NP_055207 P42857 NSG1_HUMAN brain neuron cytoplasmic protein 1 133 Lumenal (Potential). dopamine receptor signaling pathway Golgi membrane|integral to membrane|nucleus dopamine receptor binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.166) AGCTACTACGCGGAGCAAGAC 0.562 EVC2 132884 broad.mit.edu 37 4 5624326 5624326 + Silent SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr4:5624326G>A uc003gij.2 - 14 2493 c.2439C>T c.(2437-2439)GAC>GAT p.D813D EVC2_uc011bwb.1_Silent_p.D253D|EVC2_uc003gik.2_Silent_p.D733D NM_147127 NP_667338 Q86UK5 LBN_HUMAN limbin 813 integral to membrane large_intestine(3)|ovary(2) 5 CCTCAGGAGCGTCATCCTTCA 0.592 KCTD8 386617 broad.mit.edu 37 4 44449752 44449752 + Missense_Mutation SNP C C G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr4:44449752C>G uc003gwu.2 - 1 1073 c.789G>C c.(787-789)GAG>GAC p.E263D NM_198353 NP_938167 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerisation domain 263 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(2)|ovary(1) 3 ACGTGTACTTCTCCGGCTGCC 0.652 HNSCC(17;0.042) EXOC1 55763 broad.mit.edu 37 4 56765938 56765938 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr4:56765938G>A uc003hbe.1 + 17 2383 c.2225G>A c.(2224-2226)CGA>CAA p.R742Q EXOC1_uc003hbf.1_Missense_Mutation_p.R742Q|EXOC1_uc003hbg.1_Missense_Mutation_p.R727Q NM_018261 NP_060731 Q9NV70 EXOC1_HUMAN exocyst complex component 1 isoform 1 742 exocytosis|protein transport exocyst protein binding ovary(2)|skin(2)|lung(1)|central_nervous_system(1) 6 Glioma(25;0.08)|all_neural(26;0.101) ACTCTTTCTCGATTGAAAATC 0.368 GNRHR 2798 broad.mit.edu 37 4 68619666 68619666 + Missense_Mutation SNP A A G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr4:68619666A>G uc003hdn.2 - 1 2139 c.388T>C c.(388-390)TTC>CTC p.F130L LOC550112_uc003hdl.3_Intron|GNRHR_uc003hdm.2_Missense_Mutation_p.F130L NM_000406 NP_000397 P30968 GNRHR_HUMAN gonadotropin-releasing hormone receptor isoform 130 Helical; Name=3; (Potential). multicellular organismal development integral to plasma membrane gonadotropin-releasing hormone receptor activity ovary(1) 1 Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666) ACCATCATGAAGGCTGGGGCA 0.507 CTSO 1519 broad.mit.edu 37 4 156863522 156863522 + Silent SNP T T G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr4:156863522T>G uc003ipg.2 - 3 380 c.331A>C c.(331-333)AGA>CGA p.R111R NM_001334 NP_001325 P43234 CATO_HUMAN cathepsin O preproprotein 111 proteolysis lysosome cysteine-type endopeptidase activity 0 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148) CAGTCAAATCTTAACGGCAAA 0.413 TLL1 7092 broad.mit.edu 37 4 166929130 166929130 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr4:166929130G>A uc003irh.1 + 7 1494 c.847G>A c.(847-849)GAA>AAA p.E283K TLL1_uc011cjn.1_Missense_Mutation_p.E283K|TLL1_uc011cjo.1_Missense_Mutation_p.E107K NM_012464 NP_036596 O43897 TLL1_HUMAN tolloid-like 1 precursor 283 Metalloprotease (By similarity). cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) GGAGCCTGGAGAAGTAAACTC 0.408 DDX60L 91351 broad.mit.edu 37 4 169362498 169362498 + Silent SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr4:169362498C>T uc003irq.3 - 10 1505 c.1284G>A c.(1282-1284)TCG>TCA p.S428S DDX60L_uc003irr.1_Silent_p.S428S|DDX60L_uc003irs.1_Silent_p.S155S NM_001012967 NP_001012985 Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 428 ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) CTTGAATGACCGATTTCTCTT 0.353 DNAH5 1767 broad.mit.edu 37 5 13771038 13771038 + Missense_Mutation SNP T T G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr5:13771038T>G uc003jfd.2 - 56 9467 c.9425A>C c.(9424-9426)AAG>ACG p.K3142T DNAH5_uc003jfc.2_5'Flank NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3142 AAA 4 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) CACCTCCTTCTTGATTTCCAA 0.453 Kartagener_syndrome PRDM9 56979 broad.mit.edu 37 5 23510114 23510114 + Missense_Mutation SNP A A C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr5:23510114A>C uc003jgo.2 + 4 461 c.279A>C c.(277-279)GAA>GAC p.E93D NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 93 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 ATTCTGATGAAGAATGGACCC 0.363 HNSCC(3;0.000094) RICTOR 253260 broad.mit.edu 37 5 38950621 38950621 + Missense_Mutation SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr5:38950621C>T uc003jlp.2 - 31 3353 c.3329G>A c.(3328-3330)CGT>CAT p.R1110H RICTOR_uc003jlo.2_Missense_Mutation_p.R1110H|RICTOR_uc010ivf.2_Missense_Mutation_p.R825H NM_152756 NP_689969 Q6R327 RICTR_HUMAN rapamycin-insensitive companion of mTOR 1110 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1) 10 all_lung(31;0.000396) ACTGCTACTACGATGTTTTTT 0.368 MAP1B 4131 broad.mit.edu 37 5 71495412 71495412 + Missense_Mutation SNP G G A rs34160030 byFrequency TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr5:71495412G>A uc003kbw.3 + 5 6471 c.6230G>A c.(6229-6231)CGT>CAT p.R2077H MAP1B_uc010iyw.1_Missense_Mutation_p.R2094H|MAP1B_uc010iyx.1_Missense_Mutation_p.R1951H|MAP1B_uc010iyy.1_Missense_Mutation_p.R1951H NM_005909 NP_005900 P46821 MAP1B_HUMAN microtubule-associated protein 1B 2077 microtubule|microtubule associated complex structural molecule activity large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) TCAGAAGCCCGTCAGGATGTC 0.473 SIL1 64374 broad.mit.edu 37 5 138456726 138456726 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr5:138456726G>A uc003ldm.2 - 2 259 c.242C>T c.(241-243)CCA>CTA p.P81L SIL1_uc003ldn.2_Missense_Mutation_p.P80L|SIL1_uc003ldo.2_Missense_Mutation_p.P81L|SIL1_uc003ldp.2_Missense_Mutation_p.P81L NM_022464 NP_071909 Q9H173 SIL1_HUMAN SIL1 protein precursor 81 Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity). intracellular protein transport|protein folding|transmembrane transport endoplasmic reticulum lumen unfolded protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) CCTGATACCTGGCTGAAGGGC 0.542 Marinesco-Sj_gren_syndrome PCDHB13 56123 broad.mit.edu 37 5 140594778 140594778 + Silent SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr5:140594778G>A uc003lja.1 + 1 1270 c.1083G>A c.(1081-1083)GCG>GCA p.A361A NM_018933 NP_061756 Q9Y5F0 PCDBD_HUMAN protocadherin beta 13 precursor 361 Cadherin 4.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTGAGAACGCGCCTGAAACTG 0.448 GABRP 2568 broad.mit.edu 37 5 170239126 170239126 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr5:170239126G>A uc003mau.2 + 10 1385 c.1187G>A c.(1186-1188)CGA>CAA p.R396Q GABRP_uc011dev.1_3'UTR NM_014211 NP_055026 O00591 GBRP_HUMAN gamma-aminobutyric acid (GABA) A receptor, pi 396 Cytoplasmic (Potential). cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(1) 1 Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TTTGTCTTCCGAGAAAAGATG 0.393 GPX6 257202 broad.mit.edu 37 6 28472219 28472219 + Silent SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr6:28472219C>T uc011dlj.1 - 6 566 c.516G>A c.(514-516)GAG>GAA p.E172E GPX6_uc010jrg.1_RNA NM_182701 NP_874360 P59796 GPX6_HUMAN glutathione peroxidase 6 precursor 172 response to oxidative stress extracellular region glutathione peroxidase activity ovary(3)|pancreas(1)|skin(1) 5 Glutathione(DB00143) CCTTCATGGGCTCCCAGAAGA 0.493 SCAND3 114821 broad.mit.edu 37 6 28539970 28539970 + Silent SNP G G C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr6:28539970G>C uc003nlo.2 - 4 4314 c.3696C>G c.(3694-3696)ACC>ACG p.T1232T NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 1232 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity ovary(1) 1 atccttcgtcggtagccagct 0 SCAND3 114821 broad.mit.edu 37 6 28540574 28540574 + Missense_Mutation SNP G G C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr6:28540574G>C uc003nlo.2 - 4 3710 c.3092C>G c.(3091-3093)TCT>TGT p.S1031C NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 1031 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity ovary(1) 1 caatgaattagattttatata 0 OR5V1 81696 broad.mit.edu 37 6 29323795 29323795 + Missense_Mutation SNP A A G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr6:29323795A>G uc011dlo.1 - 1 260 c.178T>C c.(178-180)TAT>CAT p.Y60H NM_030876 NP_110503 Q9UGF6 OR5V1_HUMAN olfactory receptor, family 5, subfamily V, 60 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|kidney(1) 4 AGAAAATAATACATAGGTGTA 0.398 PACSIN1 29993 broad.mit.edu 37 6 34499470 34499470 + Silent SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr6:34499470C>T uc003ojo.2 + 9 1337 c.1131C>T c.(1129-1131)GGC>GGT p.G377G PACSIN1_uc003ojp.2_Silent_p.G377G NM_020804 NP_065855 Q9BY11 PACN1_HUMAN protein kinase C and casein kinase substrate in 377 endocytosis protein kinase activity 0 CCAACGGGGGCGCCAACCCCT 0.627 USP49 25862 broad.mit.edu 37 6 41773985 41773985 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr6:41773985G>A uc003ori.2 - 4 959 c.737C>T c.(736-738)CCG>CTG p.P246L NM_018561 NP_061031 Q70CQ1 UBP49_HUMAN ubiquitin thioesterase 49 246 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Ovarian(28;0.0919)|Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GGCCATGGCCGGCTGGCGACG 0.512 AARS2 57505 broad.mit.edu 37 6 44268376 44268376 + Missense_Mutation SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr6:44268376C>T uc010jza.1 - 22 2869 c.2866G>A c.(2866-2868)GGC>AGC p.G956S SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron|TCTE1_uc003oxi.2_5'Flank NM_020745 NP_065796 Q5JTZ9 SYAM_HUMAN alanyl-tRNA synthetase 2, mitochondrial 956 alanyl-tRNA aminoacylation mitochondrion alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding ovary(1) 1 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) ACTCGTGAGCCCCACGCCTTG 0.617 SYNCRIP 10492 broad.mit.edu 37 6 86346762 86346762 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr6:86346762G>A uc003pla.2 - 6 1130 c.589C>T c.(589-591)CCA>TCA p.P197S SYNCRIP_uc003pku.2_Missense_Mutation_p.P197S|SYNCRIP_uc003pkw.2_Missense_Mutation_p.P197S|SYNCRIP_uc003pky.2_Missense_Mutation_p.P99S|SYNCRIP_uc003pkv.2_Missense_Mutation_p.P197S|SYNCRIP_uc003pkx.2_Missense_Mutation_p.P45S|SYNCRIP_uc003pkz.2_Missense_Mutation_p.P197S NM_006372 NP_006363 O60506 HNRPQ_HUMAN synaptotagmin binding, cytoplasmic RNA 197 RRM 1. CRD-mediated mRNA stabilization|interspecies interaction between organisms catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm nucleotide binding|protein binding ovary(2) 2 all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297) BRCA - Breast invasive adenocarcinoma(108;0.0389) CCAGTGAGTGGATCCATCATT 0.403 POU3F2 5454 broad.mit.edu 37 6 99284012 99284012 + Silent SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr6:99284012C>T uc003ppe.2 + 1 1433 c.1263C>T c.(1261-1263)GGC>GGT p.G421G NM_005604 NP_005595 P20265 PO3F2_HUMAN POU domain, class 3, transcription factor 2 421 positive regulation of cell proliferation identical protein binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197) BRCA - Breast invasive adenocarcinoma(108;0.0355) CTCTGCCGGGCGCCGAGGATG 0.627 LAMA2 3908 broad.mit.edu 37 6 129634198 129634198 + Nonsense_Mutation SNP A A T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr6:129634198A>T uc003qbn.2 + 23 3472 c.3367A>T c.(3367-3369)AAA>TAA p.K1123* LAMA2_uc003qbo.2_Nonsense_Mutation_p.K1123* NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 1123 Laminin EGF-like 13. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TTCAGAGACTAAAAAATGCTC 0.493 IL20RA 53832 broad.mit.edu 37 6 137329826 137329826 + Missense_Mutation SNP T T C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr6:137329826T>C uc003qhj.2 - 5 1067 c.634A>G c.(634-636)ACT>GCT p.T212A IL20RA_uc011edl.1_Missense_Mutation_p.T163A|IL20RA_uc003qhk.2_Missense_Mutation_p.T101A|IL20RA_uc003qhi.2_5'UTR NM_014432 NP_055247 Q9UHF4 I20RA_HUMAN interleukin 20 receptor, alpha precursor 212 Extracellular (Potential).|Fibronectin type-III 2. integral to membrane receptor activity ovary(2)|skin(2) 4 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459) CAGTAAAGAGTGTTCGGCTCC 0.547 RAET1E 135250 broad.mit.edu 37 6 150210686 150210686 + Silent SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr6:150210686G>A uc003qnl.1 - 3 480 c.420C>T c.(418-420)TTC>TTT p.F140F uc003qni.1_Intron|RAET1E_uc003qnj.2_Silent_p.F140F|RAET1E_uc003qnk.1_Silent_p.F104F|RAET1E_uc010kih.1_RNA NM_139165 NP_631904 Q8TD07 N2DL4_HUMAN retinoic acid early transcript 1E precursor 140 Extracellular (Potential).|MHC class I alpha-2 like. antigen processing and presentation|immune response|regulation of immune response integral to membrane|MHC class I protein complex protein binding 0 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.58e-12) CATTGGTGGCGAACTGCCAGG 0.468 SDK1 221935 broad.mit.edu 37 7 4249744 4249744 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr7:4249744G>A uc003smx.2 + 38 5628 c.5489G>A c.(5488-5490)GGC>GAC p.G1830D SDK1_uc010kso.2_Missense_Mutation_p.G1086D|SDK1_uc003smy.2_Missense_Mutation_p.G317D NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 1830 Fibronectin type-III 12. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GCGGCCAACGGCATCCTGCAG 0.652 DGKB 1607 broad.mit.edu 37 7 14378185 14378185 + Missense_Mutation SNP T T C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr7:14378185T>C uc003ssz.2 - 22 2267 c.2080A>G c.(2080-2082)AGG>GGG p.R694G DGKB_uc011jxt.1_Missense_Mutation_p.R675G|DGKB_uc003sta.2_Missense_Mutation_p.R694G|DGKB_uc011jxu.1_Missense_Mutation_p.R693G NM_004080 NP_004071 Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta isoform 1 694 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding lung(5)|ovary(4)|breast(2)|skin(1) 12 Phosphatidylserine(DB00144) ACGGTGGTCCTTTTGTCAGAC 0.393 BBS9 27241 broad.mit.edu 37 7 33397540 33397540 + Missense_Mutation SNP A A T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr7:33397540A>T uc003tdn.1 + 16 2139 c.1626A>T c.(1624-1626)AAA>AAT p.K542N BBS9_uc003tdo.1_Missense_Mutation_p.K507N|BBS9_uc003tdp.1_Missense_Mutation_p.K537N|BBS9_uc003tdq.1_Missense_Mutation_p.K502N|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Missense_Mutation_p.K66N|BBS9_uc003tds.1_5'UTR|BBS9_uc011kao.1_Missense_Mutation_p.K420N NM_198428 NP_940820 Q3SYG4 PTHB1_HUMAN parathyroid hormone-responsive B1 isoform 2 542 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GBM - Glioblastoma multiforme(11;0.0894) AGCCTTCAAAAACTGCAAGCC 0.383 Bardet-Biedl_syndrome ABCA13 154664 broad.mit.edu 37 7 48314870 48314870 + Silent SNP A A G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr7:48314870A>G uc003toq.2 + 17 5632 c.5607A>G c.(5605-5607)GAA>GAG p.E1869E ABCA13_uc010kyr.2_Silent_p.E1372E NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 1869 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 CCCAAGGTGAAGATTCACCAT 0.428 MAGI2 9863 broad.mit.edu 37 7 77973216 77973216 + Silent SNP T T A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr7:77973216T>A uc003ugx.2 - 9 1541 c.1287A>T c.(1285-1287)CTA>CTT p.L429L MAGI2_uc003ugy.2_Silent_p.L429L|MAGI2_uc010ldx.1_Silent_p.L38L|MAGI2_uc010ldy.1_Silent_p.L38L|MAGI2_uc011kgr.1_Silent_p.L261L|MAGI2_uc011kgs.1_Silent_p.L266L NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 429 PDZ 2. cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TGCTCTTTTTTAGGGTGGTGC 0.463 DOCK4 9732 broad.mit.edu 37 7 111509683 111509683 + Missense_Mutation SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr7:111509683C>T uc003vfx.2 - 21 2325 c.2056G>A c.(2056-2058)GTG>ATG p.V686M DOCK4_uc003vfw.2_Missense_Mutation_p.V127M|DOCK4_uc003vfy.2_Missense_Mutation_p.V686M|DOCK4_uc003vga.1_Missense_Mutation_p.V291M NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 686 cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(1;0.0441) ATCCGGTCCACGTACCATTTG 0.418 SGCZ 137868 broad.mit.edu 37 8 13959935 13959935 + Missense_Mutation SNP A A C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr8:13959935A>C uc003wwq.2 - 7 1354 c.694T>G c.(694-696)TTC>GTC p.F232V SGCZ_uc010lss.2_Missense_Mutation_p.F185V NM_139167 NP_631906 Q96LD1 SGCZ_HUMAN sarcoglycan zeta 219 Extracellular (Potential). cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma ovary(2)|central_nervous_system(1) 3 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) GTGGCCTTGAAGTCTCCTGCA 0.512 SGCZ 137868 broad.mit.edu 37 8 13965704 13965704 + Silent SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr8:13965704C>T uc003wwq.2 - 6 1248 c.588G>A c.(586-588)CCG>CCA p.P196P SGCZ_uc010lss.2_Silent_p.P149P NM_139167 NP_631906 Q96LD1 SGCZ_HUMAN sarcoglycan zeta 183 Extracellular (Potential). cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma ovary(2)|central_nervous_system(1) 3 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) CTCTGATGTGCGGCGTCTCCA 0.463 EIF4EBP1 1978 broad.mit.edu 37 8 37914619 37914619 + Missense_Mutation SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr8:37914619C>T uc003xks.2 + 2 238 c.166C>T c.(166-168)CGG>TGG p.R56W NM_004095 NP_004086 Q13541 4EBP1_HUMAN eukaryotic translation initiation factor 4E 56 G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|positive regulation of mitotic cell cycle|TOR signaling cascade|translation cytosol 0 Colorectal(12;0.00627) Lung NSC(58;0.118)|all_lung(54;0.195) CATCTATGACCGGAAATTCCT 0.552 AP3M2 10947 broad.mit.edu 37 8 42019858 42019858 + Missense_Mutation SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr8:42019858C>T uc003xop.2 + 5 796 c.505C>T c.(505-507)CGG>TGG p.R169W AP3M2_uc003xoo.2_Missense_Mutation_p.R169W|AP3M2_uc010lxe.2_RNA|AP3M2_uc003xoq.1_Missense_Mutation_p.R54W|AP3M2_uc003xor.1_Missense_Mutation_p.R169W NM_001134296 NP_001127768 P53677 AP3M2_HUMAN adaptor-related protein complex 3, mu 2 subunit 169 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|Golgi apparatus 0 all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) GCCTTGGCGACGGACTGGGGT 0.418 PXDNL 137902 broad.mit.edu 37 8 52321502 52321502 + Silent SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr8:52321502G>A uc003xqu.3 - 17 2783 c.2682C>T c.(2680-2682)ATC>ATT p.I894I PXDNL_uc003xqt.3_RNA NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 894 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TGGAGCCATCGATGTAGGCTG 0.622 ASAP1 50807 broad.mit.edu 37 8 131073067 131073067 + Missense_Mutation SNP G G C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr8:131073067G>C uc003yta.1 - 27 2978 c.2950C>G c.(2950-2952)CCA>GCA p.P984A ASAP1_uc003ysz.1_Missense_Mutation_p.P795A|ASAP1_uc011liw.1_Missense_Mutation_p.P977A NM_018482 NP_060952 Q9ULH1 ASAP1_HUMAN development and differentiation enhancing factor 984 Pro-rich. cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding ovary(4) 4 TTCATCTGTGGTTTGGGAGGT 0.572 RPL8 6132 broad.mit.edu 37 8 146015800 146015800 + Silent SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr8:146015800C>T uc003zeb.2 - 5 666 c.555G>A c.(553-555)GCG>GCA p.A185A RPL8_uc003zdz.2_RNA|RPL8_uc003zea.2_Silent_p.A149A|RPL8_uc003zec.2_Silent_p.A185A NM_033301 NP_150644 P62917 RL8_HUMAN ribosomal protein L8 185 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit rRNA binding|structural constituent of ribosome 0 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.191) ATTTGTGGTACGCCCGGCCAG 0.542 GLDC 2731 broad.mit.edu 37 9 6610288 6610288 + Missense_Mutation SNP T T C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr9:6610288T>C uc003zkc.2 - 4 732 c.539A>G c.(538-540)CAG>CGG p.Q180R NM_000170 NP_000161 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 180 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding ovary(2) 2 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) CACCATGGTCTGGTAGTTGAG 0.547 GRIN3A 116443 broad.mit.edu 37 9 104449347 104449347 + Missense_Mutation SNP A A C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr9:104449347A>C uc004bbp.1 - 2 1436 c.835T>G c.(835-837)TTC>GTC p.F279V GRIN3A_uc004bbq.1_Missense_Mutation_p.F279V NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, 279 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) AGGAGGAGGAAGTCGGTGATG 0.468 FKBP15 23307 broad.mit.edu 37 9 115955819 115955819 + Missense_Mutation SNP G G C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr9:115955819G>C uc004bgs.2 - 11 1136 c.1018C>G c.(1018-1020)CTT>GTT p.L340V FKBP15_uc010muu.1_Missense_Mutation_p.L404V|FKBP15_uc011lxd.1_Missense_Mutation_p.L272V|FKBP15_uc010mut.1_Missense_Mutation_p.L208V|FKBP15_uc004bgt.2_Missense_Mutation_p.L340V NM_015258 NP_056073 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 340 endocytosis|protein folding axon|early endosome actin binding ovary(3) 3 TTGGTACGAAGAGCTGGCTCC 0.274 NUP188 23511 broad.mit.edu 37 9 131749930 131749930 + Missense_Mutation SNP C C G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr9:131749930C>G uc004bws.1 + 23 2349 c.2327C>G c.(2326-2328)ACA>AGA p.T776R NUP188_uc004bwu.2_Missense_Mutation_p.T119R NM_015354 NP_056169 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 776 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1) 7 GCAGGACAGACAGTTATCAAT 0.527 MSL3 10943 broad.mit.edu 37 X 11786716 11786716 + Missense_Mutation SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chrX:11786716C>T uc004cuw.2 + 10 1301 c.1196C>T c.(1195-1197)TCT>TTT p.S399F MSL3_uc004cux.2_Missense_Mutation_p.S340F|MSL3_uc011mig.1_Missense_Mutation_p.S250F|MSL3_uc011mih.1_Missense_Mutation_p.S387F|MSL3_uc004cuy.2_Missense_Mutation_p.S233F NM_078629 NP_523353 Q8N5Y2 MS3L1_HUMAN male-specific lethal 3-like 1 isoform a 399 histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter MSL complex DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 AGCAGATCATCTTCACCTATT 0.398 KDM6A 7403 broad.mit.edu 37 X 44922785 44922785 + Missense_Mutation SNP G G C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chrX:44922785G>C uc004dge.3 + 16 2021 c.1646G>C c.(1645-1647)AGA>ACA p.R549T KDM6A_uc010nhk.2_Missense_Mutation_p.R515T|KDM6A_uc011mkz.1_Missense_Mutation_p.R601T|KDM6A_uc011mla.1_Missense_Mutation_p.R504T|KDM6A_uc011mlb.1_Missense_Mutation_p.R556T|KDM6A_uc011mlc.1_Missense_Mutation_p.R253T|KDM6A_uc011mld.1_Missense_Mutation_p.R188T NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide 549 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 GCTCTGACCAGAGTGCCTAGC 0.567 D|N|F|S renal|oesophageal SCC|MM STARD8 9754 broad.mit.edu 37 X 67941951 67941951 + Missense_Mutation SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chrX:67941951C>T uc004dxa.2 + 10 2654 c.2282C>T c.(2281-2283)GCA>GTA p.A761V STARD8_uc004dxb.2_Missense_Mutation_p.A841V|STARD8_uc004dxc.3_Missense_Mutation_p.A761V NM_014725 NP_055540 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain 761 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity breast(3)|ovary(2)|pancreas(1) 6 GACAACATGGCAGCCACCCAG 0.572 PJA1 64219 broad.mit.edu 37 X 68382337 68382338 + Nonsense_Mutation DNP TT TT AA TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chrX:68382337_68382338TT>AA uc004dxh.2 - 2 1030_1031 c.744_745AA>TT c.(742-747)TCAAAG>TCTTAG p.K249* PJA1_uc011mpi.1_5'UTR|PJA1_uc004dxg.2_Intron|PJA1_uc004dxi.2_Nonsense_Mutation_p.K194* NM_145119 NP_660095 Q8NG27 PJA1_HUMAN praja 1 isoform a 249 zinc ion binding 0 TCTGCACTCTTTGAGGTGTTTT 0.48 CPXCR1 53336 broad.mit.edu 37 X 88009038 88009038 + Missense_Mutation SNP T T A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chrX:88009038T>A uc004efd.3 + 3 882 c.623T>A c.(622-624)CTC>CAC p.L208H CPXCR1_uc004efc.3_Missense_Mutation_p.L208H NM_033048 NP_149037 Q8N123 CPXCR_HUMAN CPX chromosome region, candidate 1 208 intracellular zinc ion binding ovary(3) 3 TACCGTCCCCTCACTGAGAGA 0.428 AMOT 154796 broad.mit.edu 37 X 112022884 112022884 + Missense_Mutation SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chrX:112022884C>T uc004epr.2 - 10 2498 c.2498G>A c.(2497-2499)CGT>CAT p.R833H AMOT_uc004eps.2_Missense_Mutation_p.R424H|AMOT_uc011mtc.1_Missense_Mutation_p.R73H NM_001113490 NP_001106962 Q4VCS5 AMOT_HUMAN angiomotin isoform 1 833 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction angiostatin binding|protein binding|receptor activity ovary(1) 1 ATATTCAGCACGGTAGTCTCC 0.507 GPR101 83550 broad.mit.edu 37 X 136113611 136113611 + Missense_Mutation SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chrX:136113611C>T uc011mwh.1 - 1 223 c.223G>A c.(223-225)GTC>ATC p.V75I NM_054021 NP_473362 Q96P66 GP101_HUMAN G protein-coupled receptor 101 75 Helical; Name=2; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 Acute lymphoblastic leukemia(192;0.000127) AGGTCGGTGACGAGGAGGTTA 0.617 BGN 633 broad.mit.edu 37 X 152773819 152773819 + Silent SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chrX:152773819C>T uc004fhr.1 + 8 1195 c.1023C>T c.(1021-1023)CCC>CCT p.P341P BGN_uc004fhq.1_RNA NM_001711 NP_001702 P21810 PGS1_HUMAN biglycan preproprotein 341 LRR 11. proteinaceous extracellular matrix|transport vesicle extracellular matrix structural constituent breast(2) 2 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCAACAACCCCGTGCCCTACT 0.582 CCDC27 148870 broad.mit.edu 37 1 3680286 3680288 + In_Frame_Del DEL ACA ACA - TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr1:3680286_3680288delACA uc001akv.2 + 8 1419_1421 c.1338_1340delACA c.(1336-1341)TTACAA>TTA p.Q449del NM_152492 NP_689705 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 449 skin(1) 1 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) TTGCGTCTTTACAACAACAAGTG 0.581 LAMC2 3918 broad.mit.edu 37 1 183206593 183206595 + In_Frame_Del DEL AAG AAG - TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr1:183206592_183206594AAAG>A uc001gqa.2 + 17 3021_3023 c.2707_2709AAAG>A c.(2707-2709)aaa>A p.K903del LAMC2_uc001gpz.4_In_Frame_Del_p.K903del|LAMC2_uc010poa.2_In_Frame_Del_p.K603del NM_005562 NP_005553 Q13753 LAMC2_HUMAN Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA. 903 Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly heparin binding breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 GGGAAACTGGAAAGAAGAAGCAC 0.404 CTCF 10664 broad.mit.edu 37 16 67645936 67645936 + Frame_Shift_Del DEL C C - TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d g.chr16:67645935_67645935AC>A uc002etl.3 + 3 1307 c.863_863AC>A c.(862-864)cacfs p.H288fs CTCF_uc010cek.3_Intron NM_006565 NP_001177951 P49711 CTCF_HUMAN Homo sapiens CCCTC-binding factor (zinc finger protein) (CTCF), transcript variant 1, mRNA. 288 chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 79 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) ATGAAAAGCCACACTGATGAG 0.463