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 PRAMEF1 65121 broad.mit.edu 37 1 12854440 12854440 + Silent SNP A A C TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr1:12854440A>C uc001auj.1 + 3 767 c.664A>C c.(664-666)AGA>CGA p.R222R NM_023013 NP_075389 O95521 PRAM1_HUMAN PRAME family member 1 222 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ACGTCTGATAAGAAAGCTTCG 0.403 GRHL3 57822 broad.mit.edu 37 1 24669504 24669504 + Missense_Mutation SNP C C T TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr1:24669504C>T uc001biy.2 + 11 1469 c.1423C>T c.(1423-1425)CGC>TGC p.R475C GRHL3_uc001bix.2_Missense_Mutation_p.R470C|GRHL3_uc001biz.2_Missense_Mutation_p.R377C NM_021180 NP_067003 Q8TE85 GRHL3_HUMAN sister-of-mammalian grainyhead protein isoform 470 regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143) CAGCCTGCAGCGCTCTGGAGG 0.652 CSMD2 114784 broad.mit.edu 37 1 34042979 34042979 + Missense_Mutation SNP C C T TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr1:34042979C>T uc001bxn.1 - 50 7528 c.7499G>A c.(7498-7500)CGC>CAC p.R2500H CSMD2_uc001bxm.1_Missense_Mutation_p.R2498H NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2500 Sushi 14.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TCCCACCAGGCGGTAGCCGGC 0.642 LRRC8B 23507 broad.mit.edu 37 1 90058454 90058454 + Missense_Mutation SNP T T C TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr1:90058454T>C uc001dni.2 + 8 2771 c.2264T>C c.(2263-2265)CTC>CCC p.L755P LRRC8B_uc001dnh.2_Missense_Mutation_p.L755P|LRRC8B_uc001dnj.2_Missense_Mutation_p.L755P NM_001134476 NP_001127948 Q6P9F7 LRC8B_HUMAN leucine rich repeat containing 8 family, member 755 LRR 13. integral to membrane ovary(2) 2 all_lung(203;0.17) all cancers(265;0.00515)|Epithelial(280;0.0241) CATCTGGAGCTCATTGGTAAT 0.423 LRRC8C 84230 broad.mit.edu 37 1 90180288 90180288 + Missense_Mutation SNP G G A TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr1:90180288G>A uc001dnl.3 + 3 2401 c.2159G>A c.(2158-2160)AGC>AAC p.S720N NM_032270 NP_115646 Q8TDW0 LRC8C_HUMAN leucine rich repeat containing 8 family, member 720 LRR 14. endoplasmic reticulum membrane|integral to membrane ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1) 8 all_lung(203;0.126) all cancers(265;0.00756)|Epithelial(280;0.0313) AAAGTGGAAAGCCTTCCAGAT 0.353 FLG 2312 broad.mit.edu 37 1 152284143 152284143 + Silent SNP A A G TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr1:152284143A>G uc001ezu.1 - 3 3255 c.3219T>C c.(3217-3219)GAT>GAC p.D1073D uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1073 Filaggrin 6.|Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTCCCTCACTATCACTGGCCT 0.577 Ichthyosis FLG2 388698 broad.mit.edu 37 1 152324606 152324606 + Missense_Mutation SNP T T G TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr1:152324606T>G uc001ezw.3 - 3 5729 c.5656A>C c.(5656-5658)AGT>CGT p.S1886R uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 1886 calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGCACTTCACTGTCACTGGAC 0.502 CD1C 911 broad.mit.edu 37 1 158262412 158262412 + Missense_Mutation SNP C C A TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr1:158262412C>A uc001fru.2 + 4 929 c.637C>A c.(637-639)CGC>AGC p.R213S CD1C_uc001frv.2_Missense_Mutation_p.R16S NM_001765 NP_001756 P29017 CD1C_HUMAN CD1C antigen precursor 213 Extracellular (Potential).|Ig-like. antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding ovary(2)|skin(1)|pancreas(1) 4 all_hematologic(112;0.0378) GCTGTCCAGTCGCCCCAGCCT 0.522 ZNF281 23528 broad.mit.edu 37 1 200378016 200378016 + Missense_Mutation SNP G G A TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr1:200378016G>A uc001gve.2 - 2 925 c.818C>T c.(817-819)TCC>TTC p.S273F uc010ppi.1_5'Flank|ZNF281_uc001gvf.1_Missense_Mutation_p.S273F|ZNF281_uc001gvg.1_Missense_Mutation_p.S237F NM_012482 NP_036614 Q9Y2X9 ZN281_HUMAN zinc finger protein 281 273 C2H2-type 1. negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|breast(1) 2 CAGGTGATAGGAGCTTCGGAA 0.468 SYT14 255928 broad.mit.edu 37 1 210334256 210334256 + Missense_Mutation SNP A A G TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr1:210334256A>G uc009xcv.2 + 8 1609 c.1537A>G c.(1537-1539)AGA>GGA p.R513G SYT14_uc001hhs.3_Missense_Mutation_p.R577G|SYT14_uc001hht.3_Missense_Mutation_p.R532G|SYT14_uc001hhu.3_RNA|SYT14_uc010psn.1_Missense_Mutation_p.R558G|SYT14_uc010pso.1_Missense_Mutation_p.R475G|SYT14_uc010psp.1_Missense_Mutation_p.R51G NM_153262 NP_694994 Q8NB59 SYT14_HUMAN synaptotagmin XIV isoform 4 513 Cytoplasmic (Potential).|C2 2. integral to membrane ovary(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.085) CAGCATGAAAAGAAAAGAGAT 0.388 ESRRG 2104 broad.mit.edu 37 1 216850654 216850654 + Missense_Mutation SNP A A C TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr1:216850654A>C uc001hkw.1 - 2 402 c.236T>G c.(235-237)CTT>CGT p.L79R ESRRG_uc001hky.1_Missense_Mutation_p.L56R|ESRRG_uc009xdp.1_Missense_Mutation_p.L56R|ESRRG_uc001hkz.1_Missense_Mutation_p.L56R|ESRRG_uc010puc.1_Missense_Mutation_p.L56R|ESRRG_uc001hla.1_Missense_Mutation_p.L56R|ESRRG_uc001hlb.1_Missense_Mutation_p.L56R|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Missense_Mutation_p.L56R|ESRRG_uc001hld.1_Missense_Mutation_p.L56R|ESRRG_uc001hkx.1_Missense_Mutation_p.L84R|ESRRG_uc009xdo.1_Missense_Mutation_p.L56R|ESRRG_uc001hle.1_Missense_Mutation_p.L56R NM_001438 NP_001429 P62508 ERR3_HUMAN estrogen-related receptor gamma isoform 1 79 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|kidney(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) TGGCGAGTCAAGTCCGTTCTG 0.567 WNT3A 89780 broad.mit.edu 37 1 228246882 228246882 + Missense_Mutation SNP C C T TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr1:228246882C>T uc001hrq.1 + 4 853 c.775C>T c.(775-777)CGC>TGC p.R259C WNT3A_uc001hrp.1_Missense_Mutation_p.R259C NM_033131 NP_149122 P56704 WNT3A_HUMAN wingless-type MMTV integration site family, 259 axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity ovary(1) 1 Prostate(94;0.0405) CCTGCGGCCGCGCTACACCTA 0.657 HEATR1 55127 broad.mit.edu 37 1 236723047 236723047 + Silent SNP C C T TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr1:236723047C>T uc001hyd.1 - 34 4862 c.4737G>A c.(4735-4737)GCG>GCA p.A1579A HEATR1_uc009xgh.1_Silent_p.A741A NM_018072 NP_060542 Q9H583 HEAT1_HUMAN protein BAP28 1579 rRNA processing nucleolus|ribonucleoprotein complex protein binding ovary(2)|skin(1) 3 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) TACTAAGGAGCGCGCGCCAGA 0.433 OR2G2 81470 broad.mit.edu 37 1 247752194 247752194 + Missense_Mutation SNP A A G TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr1:247752194A>G uc010pyy.1 + 1 533 c.533A>G c.(532-534)GAT>GGT p.D178G NM_001001915 NP_001001915 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, 178 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) CGCCAAGTGGATCATTTCATC 0.537 MCM10 55388 broad.mit.edu 37 10 13234491 13234491 + Silent SNP G G A TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr10:13234491G>A uc001ima.2 + 13 1772 c.1671G>A c.(1669-1671)TCG>TCA p.S557S MCM10_uc001imb.2_Silent_p.S556S|MCM10_uc001imc.2_Silent_p.S556S NM_182751 NP_877428 Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 557 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 AGTCCATCTCGGCCTCAGCAC 0.512 VIM 7431 broad.mit.edu 37 10 17276765 17276765 + Missense_Mutation SNP A A G TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr10:17276765A>G uc001iou.2 + 6 1369 c.956A>G c.(955-957)TAC>TGC p.Y319C VIM_uc001iov.1_Missense_Mutation_p.Y319C|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Missense_Mutation_p.Y319C|VIM_uc001ioy.1_Missense_Mutation_p.Y319C|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Intron|VIM_uc001ipc.1_Missense_Mutation_p.Y319C NM_003380 NP_003371 P08670 VIME_HUMAN vimentin 319 Rod.|Coil 2. cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding cytosol|intermediate filament protein C-terminus binding|structural constituent of cytoskeleton large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 TCCACTGAGTACCGGAGACAG 0.517 CACNB2 783 broad.mit.edu 37 10 18789768 18789768 + Nonsense_Mutation SNP C C T TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr10:18789768C>T uc001ipr.2 + 5 544 c.484C>T c.(484-486)CGA>TGA p.R162* CACNB2_uc009xjz.1_Intron|CACNB2_uc001ips.2_Nonsense_Mutation_p.R162*|CACNB2_uc001ipt.2_Nonsense_Mutation_p.R162*|CACNB2_uc010qcl.1_RNA|CACNB2_uc001ipu.2_Nonsense_Mutation_p.R134*|CACNB2_uc001ipv.2_Nonsense_Mutation_p.R134*|CACNB2_uc009xka.1_Nonsense_Mutation_p.R134*|CACNB2_uc001ipw.2_Nonsense_Mutation_p.R107*|CACNB2_uc001ipx.2_Nonsense_Mutation_p.R107*|CACNB2_uc009xkb.1_Nonsense_Mutation_p.R108*|CACNB2_uc010qcm.1_Nonsense_Mutation_p.R108*|CACNB2_uc001ipz.2_Nonsense_Mutation_p.R108*|CACNB2_uc001ipy.2_Nonsense_Mutation_p.R108*|CACNB2_uc010qcn.1_Nonsense_Mutation_p.R114*|CACNB2_uc010qco.1_Nonsense_Mutation_p.R114*|CACNB2_uc001iqa.2_Nonsense_Mutation_p.R114* NM_201596 NP_963890 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 162 SH3. axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity large_intestine(1)|central_nervous_system(1)|skin(1) 3 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GTGGATAGGGCGATTGGTAAA 0.393 MYST4 23522 broad.mit.edu 37 10 76789439 76789439 + Silent SNP C C T TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr10:76789439C>T uc001jwn.1 + 18 5350 c.4857C>T c.(4855-4857)GTC>GTT p.V1619V MYST4_uc001jwo.1_Silent_p.V1327V|MYST4_uc001jwp.1_Silent_p.V1436V NM_012330 NP_036462 Q8WYB5 MYST4_HUMAN MYST histone acetyltransferase (monocytic 1619 Ser-rich.|Interaction with RUNX1 and RUNX2. histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1) 16 all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964) GCCCAAGTGTCCCTGCTCTGG 0.552 T CREBBP AML ZMIZ1 57178 broad.mit.edu 37 10 81052021 81052021 + Missense_Mutation SNP G G A TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr10:81052021G>A uc001kaf.2 + 11 1437 c.865G>A c.(865-867)GCA>ACA p.A289T ZMIZ1_uc001kag.2_Missense_Mutation_p.A165T|ZMIZ1_uc001kah.1_Missense_Mutation_p.A165T NM_020338 NP_065071 Q9ULJ6 ZMIZ1_HUMAN retinoic acid induced 17 289 Ala-rich. transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding ovary(2)|breast(1)|skin(1) 4 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) agcggcagtggcagcagcagc 0.498 RRP12 23223 broad.mit.edu 37 10 99126349 99126349 + Missense_Mutation SNP T T C TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr10:99126349T>C uc001knf.2 - 28 3384 c.3245A>G c.(3244-3246)GAC>GGC p.D1082G RRP12_uc001kne.2_Missense_Mutation_p.D97G|RRP12_uc009xvl.2_Missense_Mutation_p.D199G|RRP12_uc009xvm.2_Missense_Mutation_p.D800G|RRP12_uc010qou.1_Missense_Mutation_p.D1021G|RRP12_uc009xvn.2_Missense_Mutation_p.D982G NM_015179 NP_055994 Q5JTH9 RRP12_HUMAN ribosomal RNA processing 12 homolog isoform 1 1082 Glu-rich. integral to membrane|nuclear membrane|nucleolus protein binding ovary(2)|central_nervous_system(1) 3 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) GTCCTCCTCGTCCTCTGAGTC 0.607 SEC23IP 11196 broad.mit.edu 37 10 121658153 121658153 + Silent SNP C C T TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr10:121658153C>T uc001leu.1 + 2 450 c.378C>T c.(376-378)TCC>TCT p.S126S SEC23IP_uc010qtc.1_Intron NM_007190 NP_009121 Q9Y6Y8 S23IP_HUMAN Sec23-interacting protein p125 126 Interaction with SEC23A. Golgi organization|intracellular protein transport endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment metal ion binding ovary(3) 3 Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234) all cancers(201;0.00515) CAACTGGATCCCAAGATGTCT 0.473 MUC5B 727897 broad.mit.edu 37 11 1263878 1263878 + Missense_Mutation SNP C C T rs142667139 by1000genomes TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr11:1263878C>T uc009ycr.1 + 47 7973 c.7847C>T c.(7846-7848)ACG>ATG p.T2616M MUC5B_uc001ltb.2_Missense_Mutation_p.T1926M NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 1923 7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ACTGGATCCACGGCCACCCCG 0.652 MRGPRE 116534 broad.mit.edu 37 11 3249928 3249928 + Silent SNP G G A TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr11:3249928G>A uc001lxq.3 - 2 409 c.99C>T c.(97-99)CTC>CTT p.L33L NM_001039165 NP_001034254 Q86SM8 MRGRE_HUMAN MAS-related GPR, member E 33 Helical; Name=1; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity large_intestine(1)|ovary(1) 2 Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19) CACCGAGGCCGAGCCCCTCGG 0.647 UBQLN3 50613 broad.mit.edu 37 11 5528945 5528945 + Missense_Mutation SNP T T G TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr11:5528945T>G uc001may.1 - 2 1930 c.1844A>C c.(1843-1845)CAC>CCC p.H615P HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank NM_017481 NP_059509 Q9H347 UBQL3_HUMAN ubiquilin 3 615 UBA. ovary(3) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CACCTGAAAGTGAGCCTCAGG 0.557 KCNA4 3739 broad.mit.edu 37 11 30032974 30032974 + Missense_Mutation SNP T T C TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr11:30032974T>C uc001msk.2 - 2 2404 c.1252A>G c.(1252-1254)ACA>GCA p.T418A NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 418 Helical; Name=Segment S3; (Potential). voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 GTGCCCAGTGTGATGAAGTAA 0.507 ACCSL 390110 broad.mit.edu 37 11 44069816 44069816 + Missense_Mutation SNP G G A TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr11:44069816G>A uc001mxw.1 + 1 286 c.230G>A c.(229-231)CGG>CAG p.R77Q ACCSL_uc009ykr.2_5'UTR NM_001031854 NP_001027025 Q4AC99 1A1L2_HUMAN 1-aminocyclopropane-1-carboxylate synthase 77 1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups ovary(5) 5 TTAATATGCCGGATGATCAAC 0.577 OR4A47 403253 broad.mit.edu 37 11 48510618 48510618 + Missense_Mutation SNP T T G TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr11:48510618T>G uc010rhx.1 + 1 274 c.274T>G c.(274-276)TTC>GTC p.F92V NM_001005512 NP_001005512 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, 92 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TTCCATATCCTTCCAATCTTG 0.428 VSIG2 23584 broad.mit.edu 37 11 124620670 124620670 + Missense_Mutation SNP C C T TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr11:124620670C>T uc001qas.2 - 3 443 c.367G>A c.(367-369)GTC>ATC p.V123I VSIG2_uc001qat.2_Missense_Mutation_p.V123I NM_014312 NP_055127 Q96IQ7 VSIG2_HUMAN V-set and immunoglobulin domain containing 2 123 Extracellular (Potential).|Ig-like V-type. integral to plasma membrane|membrane fraction ovary(3)|central_nervous_system(1) 4 all_hematologic(175;0.215) Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215) GGGTTGTTGACTTGGCAGAGG 0.547 CLEC2D 29121 broad.mit.edu 37 12 9840550 9840550 + Silent SNP C C T TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr12:9840550C>T uc001qwg.1 + 3 247 c.225C>T c.(223-225)TGC>TGT p.C75C CLEC2D_uc001qwf.1_Silent_p.C75C|CLEC2D_uc009zgs.1_RNA|CLEC2D_uc001qwh.1_RNA|CLEC2D_uc009zgt.1_RNA|CLEC2D_uc009zgu.1_Silent_p.C33C NM_013269 NP_037401 Q9UHP7 CLC2D_HUMAN osteoclast inhibitory lectin isoform 1 75 Extracellular (Potential). cell surface receptor linked signaling pathway cell surface|endoplasmic reticulum|integral to plasma membrane|membrane fraction sugar binding|transmembrane receptor activity 0 AAGCTGCATGCCCAGAAAGCT 0.328 C12orf72 254013 broad.mit.edu 37 12 31820774 31820774 + Silent SNP A A T TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr12:31820774A>T uc009zjr.2 + 4 848 c.639A>T c.(637-639)CGA>CGT p.R213R C12orf72_uc001rkl.2_Silent_p.R213R|C12orf72_uc001rkm.2_Silent_p.R213R NM_001135864 NP_001129336 Q8IXQ9 MET20_HUMAN hypothetical protein LOC254013 213 cytoplasm protein methyltransferase activity 0 ATAGAACTCGAGTACTGATTG 0.473 COL2A1 1280 broad.mit.edu 37 12 48371127 48371127 + Silent SNP G G T TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr12:48371127G>T uc001rqu.2 - 46 3430 c.3249C>A c.(3247-3249)GGC>GGA p.G1083G COL2A1_uc001rqt.2_5'Flank|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Silent_p.G1014G NM_001844 NP_001835 P02458 CO2A1_HUMAN collagen, type II, alpha 1 isoform 1 precursor 1083 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) CTCCTTGCTTGCCAGTTGGAC 0.632 NCKAP5L 57701 broad.mit.edu 37 12 50185782 50185782 + Missense_Mutation SNP G G A TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr12:50185782G>A uc009zlk.2 - 13 4047 c.3845C>T c.(3844-3846)ACG>ATG p.T1282M NCKAP5L_uc001rvc.3_Missense_Mutation_p.T486M|NCKAP5L_uc001rvb.2_3'UTR NM_001037806 NP_001032895 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 1278 Pro-rich. central_nervous_system(1) 1 GCCCTGGGGCGTAGGGGACGG 0.721 ERBB3 2065 broad.mit.edu 37 12 56482341 56482341 + Missense_Mutation SNP G G T TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr12:56482341G>T uc001sjh.2 + 8 1082 c.889G>T c.(889-891)GAT>TAT p.D297Y ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.D238Y|ERBB3_uc001sji.2_5'UTR NM_001982 NP_001973 P21860 ERBB3_HUMAN erbB-3 isoform 1 precursor 297 Extracellular (Potential). cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) CTTTGTGGTGGATCAAACATC 0.512 C12orf12 196477 broad.mit.edu 37 12 91348279 91348279 + Missense_Mutation SNP C C T TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr12:91348279C>T uc001tbj.2 - 1 675 c.241G>A c.(241-243)GTG>ATG p.V81M NM_152638 NP_689851 Q8TC90 CL012_HUMAN hypothetical protein LOC196477 81 central_nervous_system(1)|pancreas(1) 2 TTAGAGCACACGGGTGGTTGG 0.622 BTBD11 121551 broad.mit.edu 37 12 107712922 107712922 + Missense_Mutation SNP G G A TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr12:107712922G>A uc001tmk.1 + 1 726 c.205G>A c.(205-207)GTC>ATC p.V69I BTBD11_uc009zut.1_Missense_Mutation_p.V69I|BTBD11_uc001tmj.2_Missense_Mutation_p.V69I NM_001018072 NP_001018082 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 isoform a 69 integral to membrane DNA binding skin(2)|ovary(1) 3 CTTTGACACTGTCAACACTGC 0.657 WSCD2 9671 broad.mit.edu 37 12 108589694 108589694 + Missense_Mutation SNP G G A TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr12:108589694G>A uc001tms.2 + 2 829 c.85G>A c.(85-87)GCT>ACT p.A29T WSCD2_uc001tmt.2_Missense_Mutation_p.A29T NM_014653 NP_055468 Q2TBF2 WSCD2_HUMAN WSC domain containing 2 29 Helical; (Potential). integral to membrane ovary(1)|large_intestine(1)|breast(1) 3 CTACCTGACTGCTGGGAGCCT 0.607 FICD 11153 broad.mit.edu 37 12 108912824 108912824 + Missense_Mutation SNP G G A TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr12:108912824G>A uc001tmx.1 + 3 1095 c.949G>A c.(949-951)GGA>AGA p.G317R NM_007076 NP_009007 Q9BVA6 FICD_HUMAN Huntingtin interacting protein E 317 Fido. negative regulation of Rho GTPase activity integral to membrane binding|protein adenylyltransferase activity 0 GGTCCTGGTCGGACACCACAT 0.607 WSB2 55884 broad.mit.edu 37 12 118490136 118490136 + Missense_Mutation SNP G G T TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr12:118490136G>T uc001twr.2 - 2 259 c.161C>A c.(160-162)CCC>CAC p.P54H WSB2_uc010sza.1_5'UTR|WSB2_uc010szb.1_5'UTR|WSB2_uc009zws.1_Missense_Mutation_p.P54H NM_018639 NP_061109 Q9NYS7 WSB2_HUMAN WD SOCS-box protein 2 54 intracellular signal transduction ovary(1) 1 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CAACGGCCAGGGGATCAGTTT 0.532 LPAR6 10161 broad.mit.edu 37 13 48986434 48986434 + Missense_Mutation SNP G G C TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr13:48986434G>C uc010acu.2 - 1 1220 c.126C>G c.(124-126)TTC>TTG p.F42L RB1_uc001vcb.2_Intron|LPAR6_uc001vcc.1_Intron|LPAR6_uc001vce.2_Missense_Mutation_p.F42L|LPAR6_uc001vcf.2_Missense_Mutation_p.F42L NM_001162498 NP_001155970 P43657 LPAR6_HUMAN G-protein coupled purinergic receptor P2Y5 42 Helical; Name=1; (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.?(4) ovary(4) 4 GGACGCAGATGAAAATGTATA 0.363 GPC5 2262 broad.mit.edu 37 13 92345752 92345752 + Missense_Mutation SNP G G A TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr13:92345752G>A uc010tif.1 + 3 1003 c.637G>A c.(637-639)GGA>AGA p.G213R NM_004466 NP_004457 P78333 GPC5_HUMAN glypican 5 precursor 213 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding ovary(2)|skin(2)|upper_aerodigestive_tract(1) 5 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) AAGAGTAATGGGACAGATGGG 0.517 PRKD1 5587 broad.mit.edu 37 14 30135292 30135292 + Missense_Mutation SNP T T G TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr14:30135292T>G uc001wqh.2 - 3 707 c.526A>C c.(526-528)AAA>CAA p.K176Q NM_002742 NP_002733 Q15139 KPCD1_HUMAN protein kinase D1 176 Phorbol-ester/DAG-type 1. cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity lung(3)|large_intestine(2)|ovary(2)|skin(1) 8 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) CCTTCACATTTAAGACCTTGA 0.323 UNC13C 440279 broad.mit.edu 37 15 54586259 54586259 + Silent SNP T T C TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr15:54586259T>C uc002ack.2 + 9 3985 c.3985T>C c.(3985-3987)TTA>CTA p.L1329L UNC13C_uc002acl.2_Silent_p.L159L NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 1329 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) CTGGTACAACTTAGGTGATTT 0.348 HAPLN3 145864 broad.mit.edu 37 15 89424847 89424847 + Silent SNP C C A TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr15:89424847C>A uc002bnc.2 - 3 362 c.234G>T c.(232-234)CTG>CTT p.L78L HAPLN3_uc002bne.2_RNA|HAPLN3_uc002bnd.2_Silent_p.L140L NM_178232 NP_839946 Q96S86 HPLN3_HUMAN hyaluronan and proteoglycan link protein 3 78 Ig-like V-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding 0 Lung NSC(78;0.0392)|all_lung(78;0.077) GCGGGGAGACCAGGGCCGGCT 0.657 MAPK8IP3 23162 broad.mit.edu 37 16 1817631 1817631 + Missense_Mutation SNP G G A TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr16:1817631G>A uc002cmk.2 + 27 3421 c.3301G>A c.(3301-3303)GTA>ATA p.V1101I MAPK8IP3_uc002cml.2_Missense_Mutation_p.V1095I|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.V1102I NM_015133 NP_055948 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting 1101 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding breast(2)|central_nervous_system(1) 3 CGGCGATGGCGTATGGGTGTC 0.622 ZNF423 23090 broad.mit.edu 37 16 49671764 49671764 + Silent SNP G G A TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr16:49671764G>A uc002efs.2 - 5 1597 c.1299C>T c.(1297-1299)CAC>CAT p.H433H ZNF423_uc010vgn.1_Silent_p.H316H NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 433 C2H2-type 9; degenerate. cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) GCTTGTCCGCGTGGATGGTCT 0.587 CDH1 999 broad.mit.edu 37 16 68849586 68849586 + Missense_Mutation SNP G G A TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr16:68849586G>A uc002ewg.1 + 10 1613 c.1489G>A c.(1489-1491)GAG>AAG p.E497K CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.E436K NM_004360 NP_004351 P12830 CADH1_HUMAN cadherin 1, type 1 preproprotein 497 Extracellular (Potential).|Cadherin 4. adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1) 243 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) GGAAGTGTCCGAGGACTTTGG 0.512 Mis|N|F|S lobular breast|gastric gastric Hereditary_Diffuse_Gastric_Cancer HYDIN 54768 broad.mit.edu 37 16 70989374 70989374 + Missense_Mutation SNP C C G TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr16:70989374C>G uc002ezr.2 - 40 6345 c.6217G>C c.(6217-6219)GCT>CCT p.A2073P NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 2074 ovary(1)|skin(1) 2 Ovarian(137;0.0654) TTGGCCACAGCTTCCAGCACA 0.562 DNAH9 1770 broad.mit.edu 37 17 11666890 11666890 + Missense_Mutation SNP G G T TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr17:11666890G>T uc002gne.2 + 36 7197 c.7129G>T c.(7129-7131)GCT>TCT p.A2377S DNAH9_uc010coo.2_Missense_Mutation_p.A1671S NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 2377 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TTTTGTGTTTGCTGCCATCTG 0.478 CCT6B 10693 broad.mit.edu 37 17 33267619 33267619 + Missense_Mutation SNP C C T TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr17:33267619C>T uc002hig.2 - 8 1001 c.907G>A c.(907-909)GAT>AAT p.D303N CCT6B_uc010ctg.2_Missense_Mutation_p.D266N|CCT6B_uc010wcc.1_Missense_Mutation_p.D258N NM_006584 NP_006575 Q92526 TCPW_HUMAN chaperonin containing TCP1, subunit 6B 303 chaperone-mediated protein complex assembly|protein folding|spermatogenesis cytoplasm ATP binding|protein transporter activity|unfolded protein binding pancreas(1) 1 Ovarian(249;0.17) GCAAGAGAATCTAAGGAAAAT 0.229 RNF43 54894 broad.mit.edu 37 17 56448391 56448391 + Missense_Mutation SNP G G A TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr17:56448391G>A uc002iwf.2 - 2 2212 c.256C>T c.(256-258)CAC>TAC p.H86Y RNF43_uc010wnv.1_Intron|RNF43_uc002iwh.3_Missense_Mutation_p.H86Y|RNF43_uc002iwg.3_Missense_Mutation_p.H86Y|RNF43_uc010dcw.2_5'UTR NM_017763 NP_060233 Q68DV7 RNF43_HUMAN ring finger protein 43 precursor 86 Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding ovary(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) TACAGCGGGTGGGACTGCAGA 0.572 SLC39A11 201266 broad.mit.edu 37 17 70732808 70732808 + Missense_Mutation SNP C C A TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr17:70732808C>A uc002jjb.2 - 7 788 c.673G>T c.(673-675)GCT>TCT p.A225S SLC39A11_uc002jja.2_Missense_Mutation_p.A218S NM_001159770 NP_001153242 Q8N1S5 S39AB_HUMAN solute carrier family 39, member 11 isoform 1 225 zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1) 1 TCAAAGGTAGCAGATGCCGTC 0.522 LAMA1 284217 broad.mit.edu 37 18 7117677 7117677 + Missense_Mutation SNP C C T TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr18:7117677C>T uc002knm.2 - 1 137 c.43G>A c.(43-45)GCG>ACG p.A15T LAMA1_uc010wzj.1_5'UTR NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 15 axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CGGCACTGCGCGGCGACACAC 0.602 MIB1 57534 broad.mit.edu 37 18 19427012 19427012 + Silent SNP T T A TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr18:19427012T>A uc002ktq.2 + 16 2319 c.2319T>A c.(2317-2319)GGT>GGA p.G773G MIB1_uc002ktp.2_Silent_p.G412G NM_020774 NP_065825 Q86YT6 MIB1_HUMAN mindbomb homolog 1 773 Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding ovary(4) 4 STAD - Stomach adenocarcinoma(5;0.212) ATAAGAAGGGTCAATCGCCAC 0.448 DCC 1630 broad.mit.edu 37 18 50912418 50912418 + Missense_Mutation SNP A A C TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr18:50912418A>C uc002lfe.1 + 16 2952 c.2365A>C c.(2365-2367)AGT>CGT p.S789R DCC_uc010xdr.1_Missense_Mutation_p.S637R|DCC_uc010dpf.1_Missense_Mutation_p.S444R NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 789 Extracellular (Potential).|Fibronectin type-III 4. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TCCAGAGTCAAGTTCCCATTA 0.343 THEG 51298 broad.mit.edu 37 19 375955 375955 + Nonsense_Mutation SNP G G A TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr19:375955G>A uc002lol.2 - 1 55 c.16C>T c.(16-18)CGA>TGA p.R6* THEG_uc002lom.2_Nonsense_Mutation_p.R6* NM_016585 NP_057669 Q9P2T0 THEG_HUMAN Theg homolog isoform 1 6 cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis nucleus protein binding ovary(1) 1 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGTGACCTTCGCCTGCTGTCC 0.682 MUC16 94025 broad.mit.edu 37 19 9070919 9070919 + Silent SNP A A G TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr19:9070919A>G uc002mkp.2 - 3 16731 c.16527T>C c.(16525-16527)TCT>TCC p.S5509S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 5511 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 TGGGCACATAAGAAAAGGCAG 0.498 NFIX 4784 broad.mit.edu 37 19 13192536 13192536 + Missense_Mutation SNP C C T TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr19:13192536C>T uc010xmx.1 + 8 1198 c.1145C>T c.(1144-1146)ACG>ATG p.T382M NFIX_uc002mwd.2_Missense_Mutation_p.T374M|NFIX_uc002mwe.2_Missense_Mutation_p.T366M|NFIX_uc002mwf.2_Missense_Mutation_p.T336M|NFIX_uc002mwg.1_Missense_Mutation_p.T373M Q14938 NFIX_HUMAN RecName: Full=Nuclear factor 1; 374 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity breast(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(19;8.2e-22) TTCCCCTCCACGTCCATCATC 0.627 ATP13A1 57130 broad.mit.edu 37 19 19756753 19756753 + Missense_Mutation SNP C C T TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr19:19756753C>T uc002nnh.3 - 24 3318 c.3290G>A c.(3289-3291)AGC>AAC p.S1097N GMIP_uc002nnd.2_5'Flank|GMIP_uc010xrb.1_5'Flank|GMIP_uc010xrc.1_5'Flank|ATP13A1_uc002nne.2_Missense_Mutation_p.S237N|ATP13A1_uc002nnf.3_Missense_Mutation_p.S465N|ATP13A1_uc002nng.2_Missense_Mutation_p.S979N NM_020410 NP_065143 Q9HD20 AT131_HUMAN ATPase type 13A1 1097 Helical; (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(3)|large_intestine(2)|central_nervous_system(1) 6 GTTGACCAGGCTTGGCTCAAA 0.567 ZNF676 163223 broad.mit.edu 37 19 22364350 22364350 + Nonsense_Mutation SNP G G A TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr19:22364350G>A uc002nqs.1 - 3 487 c.169C>T c.(169-171)CAA>TAA p.Q57* NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 57 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TCTATGCCTTGCTCTGGCCAA 0.299 ZNF568 374900 broad.mit.edu 37 19 37441098 37441098 + Missense_Mutation SNP A A C TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr19:37441098A>C uc002ofc.2 + 7 1558 c.1043A>C c.(1042-1044)AAT>ACT p.N348T ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Missense_Mutation_p.N272T|ZNF568_uc010efe.2_Missense_Mutation_p.N272T|ZNF568_uc010eff.1_Intron NM_198539 NP_940941 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 348 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CAGAAGCAAAATCTTATTGAG 0.388 ATP1A3 478 broad.mit.edu 37 19 42489213 42489213 + Missense_Mutation SNP G G T TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr19:42489213G>T uc002osg.2 - 8 1004 c.850C>A c.(850-852)CTC>ATC p.L284I ATP1A3_uc010xwf.1_Missense_Mutation_p.L295I|ATP1A3_uc010xwg.1_Missense_Mutation_p.L254I|ATP1A3_uc010xwh.1_Missense_Mutation_p.L297I|ATP1A3_uc002osh.2_Missense_Mutation_p.L284I NM_152296 NP_689509 P13637 AT1A3_HUMAN Na+/K+ -ATPase alpha 3 subunit 284 Helical; (Potential). ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(1)|pancreas(1) 2 CCGGTGATGAGCTGGATGAAG 0.597 RSPH6A 81492 broad.mit.edu 37 19 46307639 46307639 + Silent SNP G G A TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr19:46307639G>A uc002pdm.2 - 3 1667 c.1524C>T c.(1522-1524)GAC>GAT p.D508D RSPH6A_uc002pdl.2_Silent_p.D244D NM_030785 NP_110412 Q9H0K4 RSH6A_HUMAN radial spokehead-like 1 508 Glu-rich. intracellular ovary(1)|central_nervous_system(1) 2 CCTCCTCCTCGTCGCCCTCCT 0.662 CNOT3 4849 broad.mit.edu 37 19 54656241 54656241 + Silent SNP G G A TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr19:54656241G>A uc002qdj.1 + 15 2093 c.1782G>A c.(1780-1782)CCG>CCA p.P594P CNOT3_uc010yel.1_Silent_p.P594P|CNOT3_uc002qdi.2_Silent_p.P507P|CNOT3_uc002qdk.1_Silent_p.P594P|CNOT3_uc010ere.1_RNA|CNOT3_uc002qdl.2_Silent_p.P49P NM_014516 NP_055331 O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 594 Pro-rich. nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) TGAACATACCGCTGTCGCTGG 0.652 FNDC4 64838 broad.mit.edu 37 2 27717235 27717235 + Missense_Mutation SNP A A C TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr2:27717235A>C uc002rkx.2 - 3 638 c.232T>G c.(232-234)TAC>GAC p.Y78D GCKR_uc002rky.2_5'Flank|GCKR_uc010ezd.2_5'Flank|GCKR_uc010ylu.1_5'Flank NM_022823 NP_073734 Q9H6D8 FNDC4_HUMAN fibronectin type III domain containing 4 78 Extracellular (Potential).|Fibronectin type-III. integral to membrane 0 Acute lymphoblastic leukemia(172;0.155) GAAATGGAGTAGCCAATGACG 0.552 KCMF1 56888 broad.mit.edu 37 2 85276556 85276556 + Silent SNP C C T TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr2:85276556C>T uc002sox.3 + 6 1013 c.669C>T c.(667-669)TCC>TCT p.S223S NM_020122 NP_064507 Q9P0J7 KCMF1_HUMAN potassium channel modulatory factor 1 223 intracellular ligase activity|zinc ion binding ovary(2) 2 CTGGCCCTTCCGCTTCTCAGT 0.527 TTN 7273 broad.mit.edu 37 2 179605766 179605766 + Missense_Mutation SNP A A T TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr2:179605766A>T uc010zfh.1 - 46 11905 c.11681T>A c.(11680-11682)CTT>CAT p.L3894H TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.L3827H|TTN_uc010zfj.1_Missense_Mutation_p.L3702H|TTN_uc002umz.1_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 3835 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) CTCTGAGTCAAGTGCTTCAAC 0.443 SLC11A1 6556 broad.mit.edu 37 2 219251895 219251895 + Missense_Mutation SNP G G T TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr2:219251895G>T uc002vhv.2 + 6 853 c.513G>T c.(511-513)TGG>TGT p.W171C SLC11A1_uc010zkb.1_3'UTR|SLC11A1_uc010fvp.1_Missense_Mutation_p.W171C|SLC11A1_uc010fvq.1_Missense_Mutation_p.W104C|SLC11A1_uc010zkc.1_Missense_Mutation_p.W104C|SLC11A1_uc002vhu.1_5'UTR|SLC11A1_uc002vhw.2_Missense_Mutation_p.W53C|SLC11A1_uc010fvr.2_5'UTR NM_000578 NP_000569 P49279 NRAM1_HUMAN natural resistance-associated macrophage protein 171 Helical; (Potential). activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity ovary(3)|central_nervous_system(1) 4 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCCCACTCTGGGGTGGCGTCC 0.602 SYCP2 10388 broad.mit.edu 37 20 58440688 58440688 + Silent SNP A A C TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr20:58440688A>C uc002yaz.2 - 42 4537 c.4398T>G c.(4396-4398)ACT>ACG p.T1466T NM_014258 NP_055073 Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 1466 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding ovary(3)|lung(2) 5 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) TAGCCAATGAAGTTTTCAAAA 0.254 BAGE2 85319 broad.mit.edu 37 21 11098713 11098713 + Missense_Mutation SNP G G A TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr21:11098713G>A uc002yit.1 - 1 213 c.5C>T c.(4-6)GCG>GTG p.A2V BAGE_uc002yix.2_RNA NM_182482 NP_872288 B melanoma antigen family, member 2 precursor 0 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) cactccagccgccatcttact 0 SAMSN1 64092 broad.mit.edu 37 21 15872912 15872912 + Nonsense_Mutation SNP G G A TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr21:15872912G>A uc002yju.1 - 6 788 c.706C>T c.(706-708)CGA>TGA p.R236* SAMSN1_uc010gky.1_Nonsense_Mutation_p.R68*|SAMSN1_uc002yjv.1_Nonsense_Mutation_p.R304* NM_022136 NP_071419 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization 236 negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding ovary(3)|pancreas(1) 4 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) TTACTCCTTCGGTTTGCCTTT 0.423 KRTAP10-10 353333 broad.mit.edu 37 21 46058077 46058077 + Missense_Mutation SNP A A T TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr21:46058077A>T uc002zfq.2 + 1 805 c.743A>T c.(742-744)AAG>ATG p.K248M C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_181688 NP_859016 P60014 KR10A_HUMAN keratin associated protein 10-10 248 keratin filament 0 TCTGGCCAGAAGTCCAGCTGC 0.667 COL6A2 1292 broad.mit.edu 37 21 47539015 47539015 + Silent SNP C C T rs61735827 byFrequency TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr21:47539015C>T uc002zia.1 + 14 1333 c.1251C>T c.(1249-1251)CGC>CGT p.R417R COL6A2_uc002zhy.1_Silent_p.R417R|COL6A2_uc002zhz.1_Silent_p.R417R|COL6A2_uc002zib.1_Intron NM_001849 NP_001840 P12110 CO6A2_HUMAN alpha 2 type VI collagen isoform 2C2 precursor 417 Triple-helical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging p.R417R(1) central_nervous_system(7)|ovary(1) 8 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) CTGGGCCCCGCGGACCCAAAG 0.662 ITGA9 3680 broad.mit.edu 37 3 37555268 37555268 + Silent SNP C C T TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr3:37555268C>T uc003chd.2 + 9 965 c.912C>T c.(910-912)TTC>TTT p.F304F ITGA9_uc003chc.2_Silent_p.F304F NM_002207 NP_002198 Q13797 ITA9_HUMAN integrin, alpha 9 precursor 304 Extracellular (Potential).|FG-GAP 5. axon guidance|cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity breast(3)|pancreas(1)|lung(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) GCTCTTACTTCGGCTCCTCCT 0.552 SCN5A 6331 broad.mit.edu 37 3 38640419 38640419 + Silent SNP G G A TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr3:38640419G>A uc003cio.2 - 13 2207 c.2013C>T c.(2011-2013)AGC>AGT p.S671S SCN5A_uc003cin.2_Silent_p.S671S|SCN5A_uc003cil.3_Silent_p.S671S|SCN5A_uc010hhi.2_Silent_p.S671S|SCN5A_uc010hhk.2_Silent_p.S671S|SCN5A_uc011ayr.1_Silent_p.S671S|SCN5A_uc010hhj.1_Silent_p.S282S NM_198056 NP_932173 Q14524 SCN5A_HUMAN voltage-gated sodium channel type V alpha 671 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1) 9 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CTTCCAGTGCGCTGGTGAGGA 0.637 RHOA 387 broad.mit.edu 37 3 49412905 49412905 + Missense_Mutation SNP C C T TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr3:49412905C>T uc003cwu.2 - 2 394 c.118G>A c.(118-120)GAG>AAG p.E40K RHOA_uc010hku.2_5'UTR NM_001664 NP_001655 P61586 RHOA_HUMAN ras homolog gene family, member A precursor 40 Effector region (Potential). axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis cytoskeleton|cytosol|plasma membrane GTP binding|GTPase activity|myosin binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) Atorvastatin(DB01076)|Simvastatin(DB00641) ACATAGTTCTCAAACACTGTG 0.438 CACNA2D3 55799 broad.mit.edu 37 3 54604065 54604065 + Silent SNP C C T TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr3:54604065C>T uc003dhf.2 + 8 870 c.822C>T c.(820-822)ATC>ATT p.I274I CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Silent_p.I180I|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_Silent_p.I8I NM_018398 NP_060868 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 274 Extracellular (Potential).|VWFA. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) GTCTGACTATCGCGAAGCAAA 0.463 ROBO1 6091 broad.mit.edu 37 3 78684982 78684982 + Missense_Mutation SNP T T C TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr3:78684982T>C uc003dqe.2 - 23 3522 c.3314A>G c.(3313-3315)CAG>CGG p.Q1105R ROBO1_uc003dqb.2_Missense_Mutation_p.Q1066R|ROBO1_uc003dqc.2_Missense_Mutation_p.Q1005R|ROBO1_uc003dqd.2_Missense_Mutation_p.Q1060R|ROBO1_uc010hoh.2_Missense_Mutation_p.Q297R|ROBO1_uc011bgl.1_Missense_Mutation_p.Q677R NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN roundabout 1 isoform a 1105 Cytoplasmic (Potential). activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding large_intestine(2) 2 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) TTCTTGTTTCTGCTGTCCCAG 0.493 GRAMD1C 54762 broad.mit.edu 37 3 113652378 113652378 + Silent SNP G G A TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr3:113652378G>A uc003eaq.3 + 12 1306 c.1230G>A c.(1228-1230)CGG>CGA p.R410R GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc011bim.1_RNA|GRAMD1C_uc003ear.2_Silent_p.R243R|GRAMD1C_uc003eas.2_Silent_p.R205R|GRAMD1C_uc003eat.2_Silent_p.R69R NM_017577 NP_060047 Q8IYS0 GRM1C_HUMAN GRAM domain containing 1C 410 integral to membrane ovary(2)|skin(1) 3 AAGAAAGTCGGGAAGCACGAT 0.333 ZNF80 7634 broad.mit.edu 37 3 113955522 113955522 + Missense_Mutation SNP C C T TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr3:113955522C>T uc010hqo.2 - 1 904 c.400G>A c.(400-402)GAG>AAG p.E134K ZNF80_uc003ebf.2_RNA NM_007136 NP_009067 P51504 ZNF80_HUMAN zinc finger protein 80 134 C2H2-type 4. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Lung NSC(201;0.0233)|all_neural(597;0.0837) TCGCTGCACTCATAGGGCTTC 0.542 MYLK 4638 broad.mit.edu 37 3 123376108 123376108 + Missense_Mutation SNP G G A TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr3:123376108G>A uc003ego.2 - 24 4435 c.4153C>T c.(4153-4155)CGC>TGC p.R1385C MYLK_uc010hrr.2_5'UTR|MYLK_uc011bjv.1_Missense_Mutation_p.R185C|MYLK_uc011bjw.1_Missense_Mutation_p.R1385C|MYLK_uc003egp.2_Missense_Mutation_p.R1316C|MYLK_uc003egq.2_Missense_Mutation_p.R1385C|MYLK_uc003egr.2_Missense_Mutation_p.R1316C|MYLK_uc003egs.2_Missense_Mutation_p.R1209C NM_053025 NP_444253 Q15746 MYLK_HUMAN myosin light chain kinase isoform 1 1385 Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Fibronectin type-III. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity ovary(6)|skin(2)|stomach(1) 9 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) GAGGTGCTGCGGCATGTGGCT 0.537 CHST2 9435 broad.mit.edu 37 3 142840282 142840282 + Silent SNP C C T TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr3:142840282C>T uc003evm.2 + 2 1513 c.624C>T c.(622-624)GAC>GAT p.D208D NM_004267 NP_004258 Q9Y4C5 CHST2_HUMAN carbohydrate (N-acetylglucosamine-6-O) 208 Lumenal (Potential). inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity ovary(3) 3 ATCCGGGGGACGCCGTTTCCC 0.607 DHX15 1665 broad.mit.edu 37 4 24558017 24558017 + Missense_Mutation SNP T T C TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr4:24558017T>C uc003gqx.2 - 4 886 c.718A>G c.(718-720)ATG>GTG p.M240V NM_001358 NP_001349 O43143 DHX15_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 15 240 Helicase ATP-binding. mRNA processing U12-type spliceosomal complex ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity ovary(1) 1 Breast(46;0.0503) CGAAGTAACATCCCATCAGTC 0.383 TLR10 81793 broad.mit.edu 37 4 38777160 38777160 + Missense_Mutation SNP C C T TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr4:38777160C>T uc003gti.2 - 2 431 c.52G>A c.(52-54)GAG>AAG p.E18K TLR10_uc003gtj.2_Missense_Mutation_p.E18K|TLR10_uc003gtk.2_Missense_Mutation_p.E18K NM_030956 NP_112218 Q9BXR5 TLR10_HUMAN toll-like receptor 10 precursor 18 inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity lung(1)|breast(1) 2 GCATCACCCTCTGCTGTCATA 0.418 ADAMTS3 9508 broad.mit.edu 37 4 73156747 73156747 + Missense_Mutation SNP T T C TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr4:73156747T>C uc003hgk.1 - 20 2793 c.2756A>G c.(2755-2757)AAA>AGA p.K919R NM_014243 NP_055058 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 919 TSP type-1 3. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TCCACAGGTTTTGGTGCAGTG 0.488 ANXA3 306 broad.mit.edu 37 4 79500235 79500235 + Missense_Mutation SNP G G A rs146728751 byFrequency TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr4:79500235G>A uc003hld.2 + 4 468 c.158G>A c.(157-159)CGG>CAG p.R53Q ANXA3_uc003hle.2_Missense_Mutation_p.R14Q|ANXA3_uc010ijk.2_Missense_Mutation_p.R14Q NM_005139 NP_005130 P12429 ANXA3_HUMAN annexin A3 53 Annexin 1. defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity phagocytic vesicle membrane|plasma membrane|specific granule calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity 0 AATGCACAGCGGCAGCTGATT 0.383 WDFY3 23001 broad.mit.edu 37 4 85661555 85661555 + Silent SNP T T A TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr4:85661555T>A uc003hpd.2 - 39 6657 c.6249A>T c.(6247-6249)TCA>TCT p.S2083S NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 2083 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) ACAATCCCTGTGATCTTCTCT 0.348 PTPN13 5783 broad.mit.edu 37 4 87643423 87643423 + Missense_Mutation SNP C C T TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr4:87643423C>T uc003hpz.2 + 10 1924 c.1444C>T c.(1444-1446)CGG>TGG p.R482W PTPN13_uc003hpy.2_Missense_Mutation_p.R482W|PTPN13_uc003hqa.2_Missense_Mutation_p.R482W|PTPN13_uc003hqb.2_Missense_Mutation_p.R482W NM_080683 NP_542414 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 482 Potential. cytoplasm|cytoskeleton|plasma membrane protein binding|protein binding|protein tyrosine phosphatase activity ovary(4)|breast(1)|kidney(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) CATGCTAAAACGGCAAGAGGA 0.433 ADAD1 132612 broad.mit.edu 37 4 123336638 123336638 + Missense_Mutation SNP C C A TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr4:123336638C>A uc003ieo.2 + 11 1586 c.1354C>A c.(1354-1356)CCT>ACT p.P452T ADAD1_uc003iep.2_Missense_Mutation_p.P441T|ADAD1_uc003ieq.2_Missense_Mutation_p.P434T NM_139243 NP_640336 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 452 A to I editase. multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding 0 AGTCAACAGACCTCATATTAG 0.383 FAT4 79633 broad.mit.edu 37 4 126238415 126238415 + Silent SNP G G A TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr4:126238415G>A uc003ifj.3 + 1 849 c.849G>A c.(847-849)GCG>GCA p.A283A NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 283 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GCACCAACGCGGACATCCGCT 0.672 OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) FAT4 79633 broad.mit.edu 37 4 126370752 126370752 + Missense_Mutation SNP T T G TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr4:126370752T>G uc003ifj.3 + 9 8581 c.8581T>G c.(8581-8583)TTT>GTT p.F2861V FAT4_uc011cgp.1_Missense_Mutation_p.F1159V|FAT4_uc003ifi.1_Missense_Mutation_p.F339V NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 2861 Cadherin 27.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TGTCACAATATTTGTGACAGA 0.398 DCHS2 54798 broad.mit.edu 37 4 155157788 155157788 + Silent SNP G G T TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr4:155157788G>T uc003inw.2 - 25 6651 c.6651C>A c.(6649-6651)ACC>ACA p.T2217T NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 2217 Cadherin 20. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CCTTGACATGGGTGTGATAGC 0.478 FAM105B 90268 broad.mit.edu 37 5 14681649 14681649 + Missense_Mutation SNP C C T TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr5:14681649C>T uc003jfk.2 + 4 553 c.401C>T c.(400-402)ACG>ATG p.T134M NM_138348 NP_612357 Q96BN8 F105B_HUMAN hypothetical protein LOC90268 134 ovary(2) 2 Lung NSC(4;0.00696) CTGAGGGCCACGCTGTTCCAG 0.562 MEF2C 4208 broad.mit.edu 37 5 88018596 88018596 + Missense_Mutation SNP G G A TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr5:88018596G>A uc003kjj.2 - 11 1920 c.1247C>T c.(1246-1248)GCG>GTG p.A416V MEF2C_uc003kji.2_Missense_Mutation_p.A408V|MEF2C_uc003kjk.2_Missense_Mutation_p.A416V|MEF2C_uc003kjm.2_Missense_Mutation_p.A406V|MEF2C_uc003kjl.2_Missense_Mutation_p.A426V NM_002397 NP_002388 Q06413 MEF2C_HUMAN myocyte enhancer factor 2C isoform 1 416 apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nuclear speck activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding lung(3)|breast(2)|ovary(1)|large_intestine(1) 7 all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25) AGATCTCCCCGCCTCGTGGCG 0.562 HNSCC(66;0.2) AQPEP 206338 broad.mit.edu 37 5 115298413 115298413 + Silent SNP C C T TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr5:115298413C>T uc003kro.2 + 1 263 c.99C>T c.(97-99)CTC>CTT p.L33L AQPEP_uc003krp.2_RNA|uc003krn.1_5'UTR NM_173800 NP_776161 Q6Q4G3 AMPQ_HUMAN laeverin 33 Helical; Signal-anchor for type II membrane protein; (Potential). proteolysis integral to membrane metallopeptidase activity|zinc ion binding 0 TGGCCGTACTCGCCGCCTTGT 0.692 PCDHA5 56143 broad.mit.edu 37 5 140203412 140203412 + Silent SNP C C T TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr5:140203412C>T uc003lhl.2 + 1 2052 c.2052C>T c.(2050-2052)GGC>GGT p.G684G PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Silent_p.G684G|PCDHA5_uc003lhj.1_Silent_p.G684G NM_018908 NP_061731 Q9Y5H7 PCDA5_HUMAN protocadherin alpha 5 isoform 1 precursor 684 Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(1)|breast(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTCGGCGGGCGCTGTGGGTC 0.662 PCDHA12 56137 broad.mit.edu 37 5 140256720 140256720 + Missense_Mutation SNP G G A TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr5:140256720G>A uc003lic.2 + 1 1790 c.1663G>A c.(1663-1665)GTG>ATG p.V555M PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.V555M NM_018903 NP_061726 Q9UN75 PCDAC_HUMAN protocadherin alpha 12 isoform 1 precursor 555 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAGGTGTTCGTGCTGGACGA 0.701 PCDHB8 56128 broad.mit.edu 37 5 140558894 140558894 + Silent SNP T T C TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr5:140558894T>C uc011dai.1 + 1 1465 c.1279T>C c.(1279-1281)TTA>CTA p.L427L PCDHB16_uc003liv.2_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN protocadherin beta 8 precursor 427 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGTCACTGACTTAGGGACACC 0.517 RNF145 153830 broad.mit.edu 37 5 158630531 158630531 + Missense_Mutation SNP C C G TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr5:158630531C>G uc003lxp.2 - 2 408 c.95G>C c.(94-96)AGC>ACC p.S32T RNF145_uc011ddy.1_Missense_Mutation_p.S46T|RNF145_uc003lxo.1_Missense_Mutation_p.S60T|RNF145_uc011ddz.1_Missense_Mutation_p.S49T|RNF145_uc010jiq.1_Missense_Mutation_p.S62T|RNF145_uc011dea.1_Missense_Mutation_p.S48T NM_144726 NP_653327 Q96MT1 RN145_HUMAN ring finger protein 145 32 integral to membrane zinc ion binding ovary(3)|lung(1)|skin(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0523) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GAAAAAGGAGCTGACATCCCA 0.438 RGS14 10636 broad.mit.edu 37 5 176797932 176797932 + Missense_Mutation SNP T T A TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr5:176797932T>A uc003mgf.2 + 11 1336 c.1154T>A c.(1153-1155)GTG>GAG p.V385E RGS14_uc003mgh.2_Missense_Mutation_p.V233E|RGS14_uc003mgi.2_Missense_Mutation_p.V156E|RGS14_uc003mgj.2_5'Flank NM_006480 NP_006471 O43566 RGS14_HUMAN regulator of G-protein signalling 14 385 RBD 2.|Necessary for interaction with RABGEF1 (By similarity). chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity lung(1) 1 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTGGAGCGCGTGGTACGAATC 0.692 OR2Y1 134083 broad.mit.edu 37 5 180166621 180166621 + Silent SNP G G A TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr5:180166621G>A uc003mmf.1 - 1 438 c.438C>T c.(436-438)ATC>ATT p.I146I NM_001001657 NP_001001657 Q8NGV0 OR2Y1_HUMAN olfactory receptor, family 2, subfamily Y, 146 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114) all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCCAGGAGGCGATAGCCAGGG 0.572 UBR2 23304 broad.mit.edu 37 6 42625808 42625808 + Silent SNP G G A TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr6:42625808G>A uc011dur.1 + 27 2919 c.2919G>A c.(2917-2919)CTG>CTA p.L973L UBR2_uc011dus.1_Silent_p.L618L|UBR2_uc003osh.2_RNA NM_015255 NP_056070 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 973 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding ovary(3)|pancreas(1) 4 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) TAGCTATGCTGGAAACACTAC 0.378 UBE2CBP 90025 broad.mit.edu 37 6 83767606 83767606 + Silent SNP T T C TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr6:83767606T>C uc003pjp.2 - 2 321 c.213A>G c.(211-213)CTA>CTG p.L71L UBE2CBP_uc011dyx.1_RNA|UBE2CBP_uc003pjr.2_Silent_p.L39L NM_198920 NP_944602 Q7Z6J8 UB2CB_HUMAN ubiquitin-conjugating enzyme E2C binding 71 cytoplasm ligase activity ovary(1) 1 all_cancers(76;0.000374)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0548) BRCA - Breast invasive adenocarcinoma(397;0.0944) CAACAAACTGTAGCCCACGGC 0.483 OREG0017549 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) GRIK2 2898 broad.mit.edu 37 6 102074313 102074313 + Silent SNP A A G TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr6:102074313A>G uc003pqp.3 + 3 591 c.342A>G c.(340-342)TCA>TCG p.S114S GRIK2_uc003pqn.2_Silent_p.S114S|GRIK2_uc003pqo.3_Silent_p.S114S|GRIK2_uc010kcw.2_Silent_p.S114S NM_021956 NP_068775 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 114 Extracellular (Potential). glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|pancreas(1)|breast(1)|skin(1) 5 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) ACAGCTCATCAGCAAACGCAG 0.517 DGKI 9162 broad.mit.edu 37 7 137237196 137237196 + Missense_Mutation SNP G G T TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr7:137237196G>T uc003vtt.2 - 20 2067 c.2066C>A c.(2065-2067)GCT>GAT p.A689D DGKI_uc003vtu.2_Missense_Mutation_p.A389D NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota 689 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1)|skin(1) 3 CCGAATCATAGCTGGGGCCAA 0.517 CNBD1 168975 broad.mit.edu 37 8 88365898 88365898 + Missense_Mutation SNP T T A TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr8:88365898T>A uc003ydy.2 + 10 1235 c.1187T>A c.(1186-1188)CTT>CAT p.L396H NM_173538 NP_775809 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 396 cNMP. ovary(3) 3 ATGGGGAAACTTAAGGAGAAG 0.323 DCAF4L2 138009 broad.mit.edu 37 8 88885868 88885868 + Missense_Mutation SNP T T C TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr8:88885868T>C uc003ydz.2 - 1 429 c.332A>G c.(331-333)GAG>GGG p.E111G NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 111 ovary(1) 1 TACCCGGAGCTCAGGGGTCGT 0.547 RIMS2 9699 broad.mit.edu 37 8 104898169 104898169 + Silent SNP T T C TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr8:104898169T>C uc003yls.2 + 2 917 c.676T>C c.(676-678)TTG>CTG p.L226L RIMS2_uc003ylp.2_Silent_p.L448L|RIMS2_uc003ylw.2_Silent_p.L256L|RIMS2_uc003ylq.2_Silent_p.L256L|RIMS2_uc003ylr.2_Silent_p.L256L NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 479 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TAGACCAGACTTGAGGCGTAC 0.463 HNSCC(12;0.0054) C9orf150 286343 broad.mit.edu 37 9 12821406 12821406 + Missense_Mutation SNP G G A rs143572342 byFrequency TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr9:12821406G>A uc003zkw.2 + 2 1037 c.334G>A c.(334-336)GTC>ATC p.V112I NM_203403 NP_981948 Q8IV03 CI150_HUMAN hypothetical protein LOC286343 115 0 GBM - Glioblastoma multiforme(1;1.64e-13) AGCCACAGACGTCAGGCTCAT 0.478 WDR13 64743 broad.mit.edu 37 X 48457987 48457987 + Silent SNP C C T TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chrX:48457987C>T uc004dkh.1 + 5 552 c.405C>T c.(403-405)AGC>AGT p.S135S WDR13_uc010nif.1_Silent_p.S13S|WDR13_uc004dki.1_Silent_p.S43S|WDR13_uc004dkj.1_Silent_p.S135S|WDR13_uc004dkk.1_Silent_p.S43S|WDR13_uc004dkl.3_Silent_p.S43S|WDR13_uc011mme.1_Silent_p.S13S NM_017883 NP_060353 Q9H1Z4 WDR13_HUMAN WD repeat domain 13 protein 135 cytoplasm|nucleus ovary(2) 2 CCCCTGGCAGCGTGGTGCCCA 0.622 PLXNB3 5365 broad.mit.edu 37 X 153037379 153037379 + Silent SNP C C T TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chrX:153037379C>T uc004fii.2 + 15 2752 c.2578C>T c.(2578-2580)CTG>TTG p.L860L PLXNB3_uc011mzb.1_3'UTR|PLXNB3_uc011mzc.1_Silent_p.L542L|PLXNB3_uc010nuk.2_Silent_p.L883L|PLXNB3_uc011mzd.1_Silent_p.L499L|PLXNB3_uc004fij.1_5'Flank NM_005393 NP_005384 Q9ULL4 PLXB3_HUMAN plexin B3 isoform 1 860 IPT/TIG 1.|Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity lung(1) 1 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) GGGCTCCAACCTGGGCCGGGC 0.701 PLCB2 5330 broad.mit.edu 37 15 40583514 40583514 + Frame_Shift_Del DEL C C - TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr15:40583514delC uc001zld.2 - 26 3123 c.2822delG c.(2821-2823)GGCfs p.G941fs PLCB2_uc001zlc.2_5'UTR|PLCB2_uc010bbo.2_Frame_Shift_Del_p.G937fs|PLCB2_uc010ucm.1_Frame_Shift_Del_p.G926fs NM_004573 NP_004564 Q00722 PLCB2_HUMAN phospholipase C, beta 2 941 activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(3)|breast(3)|kidney(1)|pancreas(1) 8 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) GGCCCCGACGCCCCCCACGCC 0.428 RNF43 54894 broad.mit.edu 37 17 56492797 56492798 + Frame_Shift_Ins INS - - A TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr17:56492797_56492798insA uc002iwf.2 - 1 2097_2098 c.141_142insT c.(139-144)ATTATCfs p.I47fs RNF43_uc010wnv.1_Frame_Shift_Ins_p.I47fs|RNF43_uc002iwh.3_Frame_Shift_Ins_p.I47fs|RNF43_uc002iwg.3_Frame_Shift_Ins_p.I47fs|RNF43_uc010dcw.2_Intron NM_017763 NP_060233 Q68DV7 RNF43_HUMAN ring finger protein 43 precursor 47_48 Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding ovary(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) ATCACTCTGATAATAGCTTTCT 0.505 AP1S1 1174 broad.mit.edu 37 7 100799921 100799921 + Frame_Shift_Del DEL A A - TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr7:100799921delA uc003uxv.3 + 2 160 c.50delA c.(49-51)CAAfs p.Q17fs NM_001283 NP_001274 P61966 AP1S1_HUMAN adaptor-related protein complex 1, sigma 1 17 intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane protein binding|protein transporter activity 0 Lung NSC(181;0.168)|all_lung(186;0.215) CTGCGGCTGCAAAAATGGTAC 0.547 NIPA2 81614 broad.mit.edu 37 15 23006451 23006454 + Frame_Shift_Del DEL CACT CACT - TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr15:23006450_23006453CCACT>C uc001yvb.3 - 9 1708_1711 c.851_854AGTGG>G c.(850-855)agtggcfs p.S284fs NIPA2_uc001yux.3_Frame_Shift_Del_p.S284fs|NIPA2_uc001yuy.3_Frame_Shift_Del_p.S284fs|NIPA2_uc001yuz.3_Frame_Shift_Del_p.S284fs|NIPA2_uc010ayb.3_Frame_Shift_Del_p.S265fs|NIPA2_uc001yva.3_Frame_Shift_Del_p.S265fs NM_001184889 NP_112184 Q8N8Q9 NIPA2_HUMAN Homo sapiens non imprinted in Prader-Willi/Angelman syndrome 2 (NIPA2), transcript variant 5, mRNA. 284 early endosome|integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1) 15 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353) TGTAAAGAAGCCACTCAAAGTACC 0.368 GLYR1 84656 broad.mit.edu 37 16 4882797 4882812 + Frame_Shift_Del DEL CTGAGGAACTCTTCGA CTGAGGAACTCTTCGA - TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr16:4882796_4882811CCTGAGGAACTCTTCGA>C uc002cxx.4 - 3 295_310 c.258_273TCGAAGAGTTCCTCAGG>G c.(256-273)gtcgaagagttcctcaggfs p.V86fs GLYR1_uc002cxy.3_Non-coding_Transcript|GLYR1_uc002cxz.1_Frame_Shift_Del_p.V17fs|GLYR1_uc002cya.2_Frame_Shift_Del_p.V86fs|GLYR1_uc010uxv.1_Frame_Shift_Del_p.V86fs NM_032569 NP_115958 Q49A26 GLYR1_HUMAN Homo sapiens glyoxylate reductase 1 homolog (Arabidopsis) (GLYR1), mRNA. 86 pentose-phosphate shunt nucleus DNA binding|coenzyme binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 19 CTTTGGCTCTCCTGAGGAACTCTTCGACAGCATCTA 0.431 RNF43 54894 broad.mit.edu 37 17 56492798 56492799 + Frame_Shift_Ins INS - - A TCGA-BR-A4QM-01A-12D-A25D-08 TCGA-BR-A4QM-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2efeb73-85c8-4dce-bdd0-9d7010bf0a38 331ffab8-27ab-470a-886f-91f7264b8454 g.chr17:56492797_56492798T>TA uc002iwf.3 - 0 2097_2098 c.141_142A>TA c.(139-144)attatcfs p.I47fs RNF43_uc010wnv.2_Frame_Shift_Ins_p.I47fs|RNF43_uc002iwh.4_Frame_Shift_Ins_p.I47fs|RNF43_uc002iwg.4_Frame_Shift_Ins_p.I47fs|RNF43_uc010dcw.3_Intron NM_017763 NP_060233 Q68DV7 RNF43_HUMAN Homo sapiens ring finger protein 43 (RNF43), mRNA. 47 I -> V (in dbSNP:rs3744093). endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding p.I48T(1) NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) ATCACTCTGATAATAGCTTTCT 0.505