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 t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut KLHDC7A 127707 broad.mit.edu 37 1 18809462 18809462 + Missense_Mutation SNP G G A TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr1:18809462G>A uc001bax.2 + 1 2039 c.1987G>A c.(1987-1989)GGG>AGG p.G663R KLHDC7A_uc009vpg.2_Missense_Mutation_p.G445R NM_152375 NP_689588 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 663 Kelch 5. integral to membrane ovary(2)|upper_aerodigestive_tract(1) 3 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CGGCCCCACCGGGGGCAGCAA 0.677 NA 11 27 0 0 0 0 MAP3K6 9064 broad.mit.edu 37 1 27690468 27690468 + Silent SNP G G A TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr1:27690468G>A uc001bny.1 - 5 1053 c.804C>T c.(802-804)AGC>AGT p.S268S MAP3K6_uc009vsw.1_Silent_p.S260S|MAP3K6_uc001bnz.1_5'Flank NM_004672 NP_004663 O95382 M3K6_HUMAN mitogen-activated protein kinase kinase kinase 268 activation of JUN kinase activity ATP binding|magnesium ion binding|MAP kinase kinase kinase activity breast(4)|lung(3)|ovary(1)|central_nervous_system(1) 9 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) GCAGCTCCACGCTGTCCAGTC 0.537 NA 7 17 0 0 0 0 C1orf175 374977 broad.mit.edu 37 1 55148401 55148401 + Silent SNP G G T TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr1:55148401G>T uc010ooe.1 + 14 2778 c.2454G>T c.(2452-2454)CTG>CTT p.L818L C1orf175_uc001cxq.2_RNA|C1orf175_uc010ooc.1_Silent_p.L386L|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Silent_p.L336L|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Silent_p.L818L|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_Intron|C1orf175_uc001cxt.1_RNA|C1orf175_uc009vzr.1_Silent_p.L20L NM_001039464 NP_001034553 Q68CQ1 HEAT8_HUMAN hypothetical protein LOC374977 818 integral to membrane binding 0 TCCTGGATCTGCTCCTGGGCA 0.612 NA 19 39 2.35e-11 3.91e-11 1 0 LRRC7 57554 broad.mit.edu 37 1 70502126 70502126 + Splice_Site SNP G G T TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr1:70502126G>T uc001dep.2 + 18 2024 c.1994_splice c.e18-1 p.E665_splice LRRC7_uc009wbg.2_Intron|LRRC7_uc001deq.2_5'Flank NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 TTAAATTTCAGAATCAACTGA 0.393 NA 13 30 0.000151284 0.000232788 1 0 NEXN 91624 broad.mit.edu 37 1 78392542 78392542 + Missense_Mutation SNP G G C TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr1:78392542G>C uc001dic.3 + 8 1126 c.829G>C c.(829-831)GAG>CAG p.E277Q NEXN_uc001dia.3_Missense_Mutation_p.E263Q|NEXN_uc009wcb.1_Missense_Mutation_p.E199Q|NEXN_uc001dib.3_Missense_Mutation_p.E213Q|NEXN_uc001did.1_Missense_Mutation_p.E187Q|NEXN_uc001dif.1_Missense_Mutation_p.E169Q NM_144573 NP_653174 Q0ZGT2 NEXN_HUMAN nexilin (F actin binding protein) 277 Glu-rich. regulation of cell migration|regulation of cytoskeleton organization cytoskeleton|Z disc actin filament binding|structural constituent of muscle ovary(2) 2 Colorectal(170;0.114) TTTAGAAGAAGAGAAGCGTGC 0.363 NA 13 67 0 0 0 0 DPYD 1806 broad.mit.edu 37 1 98039345 98039345 + Missense_Mutation SNP G G A TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr1:98039345G>A uc001drv.2 - 11 1447 c.1310C>T c.(1309-1311)GCC>GTC p.A437V NM_000110 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase isoform 1 437 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity ovary(3)|skin(3)|breast(2) 8 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) TGAACCAAAGGCACTGATGAC 0.418 NA 18 109 0 0 0 0 LIX1L 128077 broad.mit.edu 37 1 145498680 145498680 + Nonsense_Mutation SNP C C T TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr1:145498680C>T uc001enr.2 + 6 990 c.916C>T c.(916-918)CGA>TGA p.R306* NBPF10_uc001emp.3_Intron|LIX1L_uc009wiu.1_5'Flank NM_153713 NP_714924 Q8IVB5 LIX1L_HUMAN Lix1 homolog (mouse) like 306 ovary(1) 1 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GGATGAAGCCCGACTGGCAGG 0.587 NA 10 57 0 0 0 0 FLG 2312 broad.mit.edu 37 1 152282437 152282437 + Missense_Mutation SNP C C G TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr1:152282437C>G uc001ezu.1 - 3 4961 c.4925G>C c.(4924-4926)AGT>ACT p.S1642T NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1642 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) GTGCCCATGACTGGCTCTATC 0.557 NA Ichthyosis 47 323 0 0 0 0 CREB3L4 148327 broad.mit.edu 37 1 153945906 153945906 + Missense_Mutation SNP C C T rs146463170 TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr1:153945906C>T uc001fdn.3 + 8 1129 c.863C>T c.(862-864)TCC>TTC p.S288F CREB3L4_uc010pef.1_Missense_Mutation_p.S141F|CREB3L4_uc001fdo.3_Missense_Mutation_p.S268F|CREB3L4_uc001fdm.1_Missense_Mutation_p.S288F|CREB3L4_uc001fdp.1_Missense_Mutation_p.S268F|CREB3L4_uc001fdr.2_Missense_Mutation_p.S288F|CREB3L4_uc001fdq.2_Missense_Mutation_p.S268F NM_130898 NP_570968 Q8TEY5 CR3L4_HUMAN cAMP responsive element binding protein 3-like 288 Cytoplasmic (Potential). response to unfolded protein endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GCTCAAACTTCCAACAAAGCT 0.522 NA 16 78 0 0 0 0 FCRL2 79368 broad.mit.edu 37 1 157737023 157737023 + Nonsense_Mutation SNP G G C TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr1:157737023G>C uc001fre.2 - 6 1219 c.1160C>G c.(1159-1161)TCA>TGA p.S387* FCRL2_uc001frd.2_Nonsense_Mutation_p.S134*|FCRL2_uc010phz.1_Nonsense_Mutation_p.S387*|FCRL2_uc009wsp.2_Intron NM_030764 NP_110391 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 precursor 387 Ig-like C2-type 4.|Extracellular (Potential). cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity ovary(1)|pancreas(1) 2 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CCACCCACCTGAGATGGAGAC 0.542 NA 13 71 0 0 0 0 MAEL 84944 broad.mit.edu 37 1 166991064 166991064 + Missense_Mutation SNP G G C TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr1:166991064G>C uc001gdy.1 + 12 1348 c.1277G>C c.(1276-1278)GGA>GCA p.G426A MAEL_uc001gdz.1_Missense_Mutation_p.G395A|MAEL_uc009wvf.1_RNA NM_032858 NP_116247 Q96JY0 MAEL_HUMAN maelstrom homolog 426 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding skin(1) 1 CAAAAAGATGGATACAAATCT 0.368 NA 5 47 0 0 0 0 PARP1 142 broad.mit.edu 37 1 226564992 226564992 + Missense_Mutation SNP G G C TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr1:226564992G>C uc001hqd.3 - 13 1929 c.1758C>G c.(1756-1758)TTC>TTG p.F586L NM_001618 NP_001609 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase family, member 1 586 cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1) 10 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) CCCAGGACCTGAATATCCAAT 0.507 NA Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA 3 199 0 0 0 0 ACTA1 58 broad.mit.edu 37 1 229568585 229568585 + Missense_Mutation SNP C C T TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr1:229568585C>T uc001htm.2 - 3 277 c.172G>A c.(172-174)GAC>AAC p.D58N NM_001100 NP_001091 P68133 ACTS_HUMAN actin, alpha 1, skeletal muscle 58 muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly actin filament|cytosol|stress fiber|striated muscle thin filament ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton 0 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.167) Dornase Alfa(DB00003) TGAGCCTCGTCGCCCACGTAG 0.597 NA 18 78 0 0 0 0 OR2T6 254879 broad.mit.edu 37 1 248551301 248551301 + Missense_Mutation SNP G G A TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr1:248551301G>A uc001iei.1 + 1 392 c.392G>A c.(391-393)CGC>CAC p.R131H NM_001005471 NP_001005471 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, 131 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AACCCACTGCGCTATCCTGTC 0.567 NA 34 51 0 0 0 0 OR2T34 127068 broad.mit.edu 37 1 248738034 248738034 + Missense_Mutation SNP G G C TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr1:248738034G>C uc001iep.1 - 1 25 c.25C>G c.(25-27)CAG>GAG p.Q9E NM_001001821 NP_001001821 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, 9 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GTTTGATTCTGAGAAGTCTGA 0.443 NA 3 60 0 0 0 0 BMS1 9790 broad.mit.edu 37 10 43318597 43318597 + Missense_Mutation SNP A A G TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr10:43318597A>G uc001jaj.2 + 20 3522 c.3164A>G c.(3163-3165)AAA>AGA p.K1055R NM_014753 NP_055568 Q14692 BMS1_HUMAN BMS1-like, ribosome assembly protein 1055 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity ovary(2)|upper_aerodigestive_tract(1) 3 GAAGTGGCCAAATTTGAAGGT 0.428 NA 4 91 0 0 0 0 GBF1 8729 broad.mit.edu 37 10 104128578 104128578 + Missense_Mutation SNP C C G TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr10:104128578C>G uc001kux.1 + 23 3199 c.2959C>G c.(2959-2961)CTC>GTC p.L987V GBF1_uc001kuy.1_Missense_Mutation_p.L987V|GBF1_uc001kuz.1_Missense_Mutation_p.L988V NM_004193 NP_004184 Q92538 GBF1_HUMAN golgi-specific brefeldin A resistant guanine 987 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) ATTCACAGCTCTCAGCAGTGA 0.502 NA 14 83 0 0 0 0 TDRD1 56165 broad.mit.edu 37 10 115987042 115987042 + Missense_Mutation SNP G G C TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr10:115987042G>C uc001lbg.1 + 23 3540 c.3387G>C c.(3385-3387)CAG>CAC p.Q1129H TDRD1_uc001lbf.2_Missense_Mutation_p.Q1006H|TDRD1_uc001lbh.1_Missense_Mutation_p.Q1116H|TDRD1_uc001lbi.1_Missense_Mutation_p.Q1120H|TDRD1_uc010qsc.1_Intron|TDRD1_uc001lbj.2_Missense_Mutation_p.Q838H NM_198795 NP_942090 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 1129 DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding 0 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) CTCAAAGGCAGAGTGCTTTAA 0.358 NA 10 42 0 0 0 0 MUC2 4583 broad.mit.edu 37 11 1078277 1078277 + Missense_Mutation SNP C C G TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr11:1078277C>G uc001lsx.1 + 5 591 c.564C>G c.(562-564)TTC>TTG p.F188L NM_002457 NP_002448 Q02817 MUC2_HUMAN mucin 2 precursor 188 VWFD 1. inner mucus layer|outer mucus layer protein binding lung(1)|breast(1) 2 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) GCGTGCTCTTCAGTCCCCTGG 0.662 NA 10 53 0 0 0 0 HBB 3043 broad.mit.edu 37 11 5248168 5248168 + Silent SNP G G A TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr11:5248168G>A uc001mae.1 - 1 134 c.84C>T c.(82-84)GCC>GCT p.A28A NM_000518 NP_000509 P68871 HBB_HUMAN beta globin 28 A -> S (in Knossos).|A -> D (in Volga/Drenthe; unstable).|A -> V (in Grange-blanche; O(2) affinity up). blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size haptoglobin-hemoglobin complex|hemoglobin complex heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity central_nervous_system(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) Iron Dextran(DB00893) ACCTGCCCAGGGCCTCACCAC 0.512 NA Sickle_Cell_Trait 11 36 0 0 0 0 SPRYD5 84767 broad.mit.edu 37 11 55653267 55653267 + Missense_Mutation SNP C C G TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr11:55653267C>G uc010rip.1 + 2 455 c.363C>G c.(361-363)CAC>CAG p.H121Q SPRYD5_uc010riq.1_5'Flank NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN SPRY domain containing 5 121 B box-type. intracellular zinc ion binding 0 all_epithelial(135;0.226) CTCAGGAGCACCGGAATCACA 0.488 NA 5 28 0 0 0 0 OR1S2 219958 broad.mit.edu 37 11 57971290 57971290 + Missense_Mutation SNP C C T rs138124206 TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr11:57971290C>T uc010rkb.1 - 1 364 c.364G>A c.(364-366)GTC>ATC p.V122I NM_001004459 NP_001004459 Q8NGQ3 OR1S2_HUMAN olfactory receptor, family 1, subfamily S, 122 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(21;0.0589) TTGTCAGTGACGACAAACACA 0.473 NA 34 84 0 0 0 0 MS4A7 58475 broad.mit.edu 37 11 60161321 60161321 + Missense_Mutation SNP G G A TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr11:60161321G>A uc001npe.2 + 7 855 c.710G>A c.(709-711)CGG>CAG p.R237Q MS4A7_uc001npf.2_Missense_Mutation_p.R237Q|MS4A7_uc001npg.2_Missense_Mutation_p.R192Q|MS4A7_uc001nph.2_Missense_Mutation_p.R192Q|MS4A14_uc001npi.2_Intron NM_206939 NP_996822 Q9GZW8 MS4A7_HUMAN membrane-spanning 4-domains, subfamily A, member 237 Cytoplasmic (Potential). integral to membrane receptor activity ovary(1)|central_nervous_system(1) 2 AGTTCTTCACGGTCTTGGATA 0.373 NA 15 81 0 0 0 0 TM7SF2 7108 broad.mit.edu 37 11 64883409 64883409 + Missense_Mutation SNP G G A TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr11:64883409G>A uc001oct.2 + 10 1288 c.1141G>A c.(1141-1143)GCG>ACG p.A381T TM7SF2_uc010rny.1_Missense_Mutation_p.A265T|TM7SF2_uc001ocu.2_Missense_Mutation_p.A354T|TM7SF2_uc001ocv.2_Missense_Mutation_p.A402T|uc009yqb.1_5'Flank NM_003273 NP_003264 O76062 ERG24_HUMAN transmembrane 7 superfamily member 2 381 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane delta14-sterol reductase activity ovary(1) 1 CTACTTCACCGCGCTGCTGGT 0.647 NA 13 43 0 0 0 0 KAT5 10524 broad.mit.edu 37 11 65481258 65481258 + Missense_Mutation SNP G G A TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr11:65481258G>A uc001ofi.2 + 7 780 c.530G>A c.(529-531)CGT>CAT p.R177H KAT5_uc001ofj.2_Missense_Mutation_p.R125H|KAT5_uc001ofk.2_Missense_Mutation_p.R210H|KAT5_uc010roo.1_Missense_Mutation_p.R158H|KAT5_uc001ofl.2_5'UTR NM_006388 NP_006379 Q92993 KAT5_HUMAN K(lysine) acetyltransferase 5 isoform 2 177 androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity 0 GGAGCCGCCCGTAGGGCAGTG 0.532 NA 4 16 0 0 0 0 PITPNM1 9600 broad.mit.edu 37 11 67262422 67262422 + Silent SNP G G A TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr11:67262422G>A uc001olx.2 - 17 2826 c.2637C>T c.(2635-2637)ATC>ATT p.I879I PITPNM1_uc001olw.2_Silent_p.I161I|PITPNM1_uc001oly.2_Silent_p.I879I|PITPNM1_uc001olz.2_Silent_p.I878I NM_004910 NP_004901 O00562 PITM1_HUMAN phosphatidylinositol transfer protein, 879 DDHD. brain development|lipid metabolic process|phototransduction|protein transport cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity lung(2)|central_nervous_system(1) 3 GCTCCTTCTCGATCACCTGCA 0.662 NA 11 82 0 0 0 0 DYRK4 8798 broad.mit.edu 37 12 4702231 4702231 + Missense_Mutation SNP C C T TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr12:4702231C>T uc001qmx.2 + 4 342 c.182C>T c.(181-183)GCG>GTG p.A61V DYRK4_uc009zeh.1_Missense_Mutation_p.A176V|DYRK4_uc001qmy.1_Missense_Mutation_p.A61V NM_003845 NP_003836 Q9NR20 DYRK4_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 61 Golgi apparatus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(2)|skin(1) 3 Colorectal(7;0.103) CTGGGCTACGCGGAGCTGTGG 0.458 NA 15 59 0 0 0 0 PTGES3 10728 broad.mit.edu 37 12 57058264 57058264 + Nonstop_Mutation SNP T T G TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr12:57058264T>G uc001slu.3 - 8 777 c.482A>C c.(481-483)TAA>TCA p.*161S PTGES3_uc001slw.3_RNA|PTGES3_uc010sqs.1_Nonstop_Mutation_p.*128S|PTGES3_uc001slv.3_Nonstop_Mutation_p.*131S|PTGES3_uc010sqt.1_Nonstop_Mutation_p.*140S|PTGES3_uc009zox.2_RNA NM_006601 NP_006592 Q15185 TEBP_HUMAN prostaglandin-E synthase 3 161 chaperone cofactor-dependent protein refolding|hormone biosynthetic process|prostaglandin biosynthetic process|signal transduction|telomere maintenance cytosol|telomerase holoenzyme complex prostaglandin-E synthase activity|telomerase activity|unfolded protein binding 0 CAATATTCCTTACTCCAGATC 0.308 NA 15 57 0 0 0 0 TMTC2 160335 broad.mit.edu 37 12 83289957 83289957 + Missense_Mutation SNP G G C TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr12:83289957G>C uc001szt.2 + 3 1447 c.1015G>C c.(1015-1017)GGG>CGG p.G339R TMTC2_uc001szr.1_Missense_Mutation_p.G339R|TMTC2_uc001szs.1_Missense_Mutation_p.G339R|TMTC2_uc010suk.1_Missense_Mutation_p.G94R NM_152588 NP_689801 Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat 339 endoplasmic reticulum|integral to membrane binding ovary(2) 2 AGAATGCAATGGGAAAACTGT 0.463 NA 10 73 0 0 0 0 TRPV4 59341 broad.mit.edu 37 12 110238456 110238456 + Nonsense_Mutation SNP G G A TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr12:110238456G>A uc001tpj.1 - 4 915 c.820C>T c.(820-822)CAG>TAG p.Q274* TRPV4_uc001tpg.1_Nonsense_Mutation_p.Q240*|TRPV4_uc001tph.1_Intron|TRPV4_uc001tpi.1_Intron|TRPV4_uc001tpk.1_Nonsense_Mutation_p.Q274*|TRPV4_uc001tpl.1_Nonsense_Mutation_p.Q274* NM_021625 NP_067638 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, 274 Cytoplasmic (Potential). actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 TCCTTGGGCTGGAAGAAGCGC 0.607 NA 6 45 0 0 0 0 ATP2A2 488 broad.mit.edu 37 12 110780124 110780124 + Missense_Mutation SNP C C G TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr12:110780124C>G uc001tqk.3 + 15 2752 c.2189C>G c.(2188-2190)TCT>TGT p.S730C ATP2A2_uc001tql.3_Missense_Mutation_p.S730C|ATP2A2_uc010sxy.1_Missense_Mutation_p.S703C NM_170665 NP_733765 P16615 AT2A2_HUMAN ATPase, Ca++ transporting, slow twitch 2 isoform 730 Cytoplasmic (By similarity). ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding ovary(3)|skin(1) 4 AAAACCGCCTCTGAGATGGTC 0.557 NA 15 75 0 0 0 0 RNF6 6049 broad.mit.edu 37 13 26789040 26789040 + Nonsense_Mutation SNP G G A TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr13:26789040G>A uc001uqo.2 - 5 1270 c.979C>T c.(979-981)CAA>TAA p.Q327* RNF6_uc001uqn.1_Intron|RNF6_uc010aak.2_Nonsense_Mutation_p.Q327*|RNF6_uc001uqp.2_Nonsense_Mutation_p.Q327*|RNF6_uc001uqq.2_Nonsense_Mutation_p.Q327*|RNF6_uc010tdk.1_Intron NM_183044 NP_898865 Q9Y252 RNF6_HUMAN ring finger protein 6 327 Arg-rich. negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process axon|cytoplasm|PML body androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|skin(1) 2 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245) CTTTCCCTTTGGGAATTATGA 0.418 NA 19 68 0 0 0 0 FARP1 10160 broad.mit.edu 37 13 99087939 99087939 + Missense_Mutation SNP C C A TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr13:99087939C>A uc001vnj.2 + 19 2589 c.2253C>A c.(2251-2253)GAC>GAA p.D751E FARP1_uc001vnh.2_Missense_Mutation_p.D751E NM_005766 NP_005757 Q9Y4F1 FARP1_HUMAN FERM, RhoGEF, and pleckstrin domain protein 1 751 regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(2) 2 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) TTGGCATTGACAATCTTGTGG 0.507 NA 31 74 1.81e-10 2.99e-10 1 0 STK24 8428 broad.mit.edu 37 13 99171636 99171636 + Missense_Mutation SNP C C T rs147189846 by1000genomes TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr13:99171636C>T uc001vnm.1 - 2 405 c.170G>A c.(169-171)CGG>CAG p.R57Q STK24_uc001vnn.1_Missense_Mutation_p.R45Q|STK24_uc010tim.1_Missense_Mutation_p.R45Q NM_003576 NP_003567 Q9Y6E0 STK24_HUMAN serine/threonine kinase 24 isoform a 57 Protein kinase. cellular component disassembly involved in apoptosis|signal transduction cytosol|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity ovary(1)|lung(1) 2 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) TTTCTGAGTCCGATTGTCAAT 0.428 NA 27 121 0 0 0 0 RASA3 22821 broad.mit.edu 37 13 114817592 114817592 + Missense_Mutation SNP C C T TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr13:114817592C>T uc001vui.2 - 3 343 c.212G>A c.(211-213)CGG>CAG p.R71Q RASA3_uc010tkk.1_Missense_Mutation_p.R39Q|RASA3_uc001vuj.2_5'UTR|RASA3_uc010tkl.1_RNA NM_007368 NP_031394 Q14644 RASA3_HUMAN RAS p21 protein activator 3 71 C2 1. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane calcium-release channel activity|metal ion binding|Ras GTPase activator activity lung(3)|skin(1) 4 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) ACGAAAGCTCCGAGGAATTTC 0.488 NA 7 28 0 0 0 0 ARHGAP5 394 broad.mit.edu 37 14 32563530 32563530 + Missense_Mutation SNP G G A TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr14:32563530G>A uc001wrl.2 + 2 3894 c.3655G>A c.(3655-3657)GAC>AAC p.D1219N ARHGAP5_uc001wrm.2_Missense_Mutation_p.D1219N|ARHGAP5_uc001wrn.2_Missense_Mutation_p.D1219N|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron NM_001173 NP_001025226 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 isoform b 1219 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding ovary(4)|central_nervous_system(1) 5 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) AATCACTTCTGACCAGGAGTT 0.353 NA 16 94 0 0 0 0 GPX2 2877 broad.mit.edu 37 14 65406430 65406430 + Missense_Mutation SNP C C T TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr14:65406430C>T uc010tsn.1 - 3 436 c.349G>A c.(349-351)GCC>ACC p.A117T CHURC1_uc010tsj.1_Intron|CHURC1_uc010tsk.1_Intron|FNTB_uc010tsl.1_Intron|FNTB_uc010tsm.1_Intron|GPX2_uc001xhy.1_RNA NM_002083 NP_002074 P18283 GPX2_HUMAN glutathione peroxidase 2 117 response to oxidative stress cytoplasm electron carrier activity|glutathione peroxidase activity ovary(1) 1 all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971) Glutathione(DB00143) TTCAGGTAGGCGAAGACAGGA 0.537 NA 14 56 0 0 0 0 NDUFB1 4707 broad.mit.edu 37 14 92588014 92588014 + Silent SNP G G T TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr14:92588014G>T uc001yaf.2 - 1 140 c.108C>A c.(106-108)CTC>CTA p.L36L NDUFB1_uc001yag.1_RNA|CPSF2_uc001yah.1_5'Flank NM_004545 NP_004536 O75438 NDUB1_HUMAN NADH dehydrogenase (ubiquinone) 1 beta Error:Variant_position_missing_in_O75438_after_alignment mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity 0 all_cancers(154;0.0766) COAD - Colon adenocarcinoma(157;0.205) NADH(DB00157) CAGCGACCCCGAGACCAAGGG 0.711 NA 9 63 3.07e-06 4.87e-06 1 0 RIN3 79890 broad.mit.edu 37 14 93118383 93118383 + Missense_Mutation SNP C C T TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr14:93118383C>T uc001yap.2 + 6 1141 c.989C>T c.(988-990)CCA>CTA p.P330L RIN3_uc010auk.2_5'UTR|RIN3_uc001yaq.2_Missense_Mutation_p.P255L|RIN3_uc001yar.1_5'UTR|RIN3_uc001yas.1_5'UTR NM_024832 NP_079108 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 330 Pro-rich. endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding lung(2)|ovary(1) 3 all_cancers(154;0.0701) CCAGGTCCCCCAGACCATCCG 0.433 NA 16 23 0 0 0 0 PPP1R14D 54866 broad.mit.edu 37 15 41120651 41120651 + Silent SNP C C G TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr15:41120651C>G uc001zmy.2 - 1 257 c.189G>C c.(187-189)CGG>CGC p.R63R PPP1R14D_uc001zmz.2_Silent_p.R63R NM_017726 NP_060196 Q9NXH3 PP14D_HUMAN protein phosphatase 1, regulatory subunit 14D 63 regulation of phosphorylation cytoplasm protein phosphatase inhibitor activity 0 all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) GGAGCTGGCCCCGGTCATACT 0.597 NA 8 68 0 0 0 0 SPTBN5 51332 broad.mit.edu 37 15 42173394 42173394 + Silent SNP C C T TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr15:42173394C>T uc001zos.2 - 13 2724 c.2391G>A c.(2389-2391)AGG>AGA p.R797R NM_016642 NP_057726 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 832 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin ovary(1)|central_nervous_system(1) 2 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) GCCCTGGGTTCCTCAGGCTTT 0.632 NA 6 33 0 0 0 0 ZSCAN29 146050 broad.mit.edu 37 15 43658483 43658483 + Missense_Mutation SNP G G T TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr15:43658483G>T uc001zrk.1 - 3 1194 c.1047C>A c.(1045-1047)CAC>CAA p.H349Q ZSCAN29_uc001zrj.1_Missense_Mutation_p.H229Q|ZSCAN29_uc010bdf.1_Missense_Mutation_p.H348Q|ZSCAN29_uc001zrl.1_RNA|ZSCAN29_uc010bdg.1_Intron|ZSCAN29_uc001zrm.2_Missense_Mutation_p.H348Q NM_152455 NP_689668 Q8IWY8 ZSC29_HUMAN zinc finger protein 690 349 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.97e-07) CCAGGCCAGAGTGAGAGGCTG 0.597 NA 14 39 3.27e-08 5.29e-08 1 0 IFT140 9742 broad.mit.edu 37 16 1642226 1642226 + Silent SNP C C T TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr16:1642226C>T uc002cmb.2 - 6 947 c.585G>A c.(583-585)CTG>CTA p.L195L NM_014714 NP_055529 Q96RY7 IF140_HUMAN intraflagellar transport 140 195 ovary(3)|pancreas(1)|skin(1) 5 Hepatocellular(780;0.219) ACCCCATCTTCAGCAAACTTC 0.507 NA 11 74 0 0 0 0 E4F1 1877 broad.mit.edu 37 16 2282237 2282237 + Missense_Mutation SNP G G A TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr16:2282237G>A uc002cpm.2 + 4 529 c.481G>A c.(481-483)GAG>AAG p.E161K E4F1_uc010bsi.2_Missense_Mutation_p.E161K|E4F1_uc010bsj.2_Missense_Mutation_p.E161K NM_004424 NP_004415 Q66K89 E4F1_HUMAN p120E4F 161 cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth cytoplasm|nucleoplasm DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1) 1 TGAGATGGCCGAGGCCCCGGG 0.662 NA 11 75 0 0 0 0 DNASE1L2 1775 broad.mit.edu 37 16 2287938 2287938 + Silent SNP C C T TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr16:2287938C>T uc002cpo.2 + 5 1156 c.762C>T c.(760-762)GGC>GGT p.G254G DNASE1L2_uc002cpn.2_Silent_p.G233G|DNASE1L2_uc002cpp.2_Silent_p.G254G|DNASE1L2_uc002cpq.2_Silent_p.G254G NM_001374 NP_001365 Q92874 DNSL2_HUMAN deoxyribonuclease I-like 2 precursor 254 DNA catabolic process extracellular region calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters|protein binding 0 TGGCCTGTGGCGCCCGCCTGC 0.672 NA 4 13 0 0 0 0 C16orf59 80178 broad.mit.edu 37 16 2514586 2514586 + Missense_Mutation SNP G G C TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr16:2514586G>C uc002cqh.2 + 10 1250 c.1219G>C c.(1219-1221)GCC>CCC p.A407P C16orf59_uc002cqf.1_3'UTR|C16orf59_uc002cqg.1_3'UTR|C16orf59_uc002cqi.2_Missense_Mutation_p.A240P|C16orf59_uc010uwb.1_3'UTR NM_025108 NP_079384 Q7L2K0 CP059_HUMAN hypothetical protein LOC80178 407 0 Ovarian(90;0.17) GCCCTGGCTGGCCCTGTGCCG 0.682 NA 5 24 0 0 0 0 CACNG3 10368 broad.mit.edu 37 16 24372924 24372924 + Silent SNP C C A TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr16:24372924C>A uc002dmf.2 + 4 1888 c.688C>A c.(688-690)CGA>AGA p.R230R NM_006539 NP_006530 O60359 CCG3_HUMAN voltage-dependent calcium channel gamma-3 230 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity 0 GBM - Glioblastoma multiforme(48;0.0809) CTACAGGTATCGATTCCGGAG 0.537 NA 17 63 9.17e-09 1.49e-08 1 0 GPR114 221188 broad.mit.edu 37 16 57608852 57608852 + Missense_Mutation SNP C C T rs149449822 TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr16:57608852C>T uc002elx.3 + 11 1419 c.1334C>T c.(1333-1335)GCG>GTG p.A445V GPR114_uc010vhr.1_Missense_Mutation_p.R406W|GPR114_uc002ely.2_Missense_Mutation_p.A445V NM_153837 NP_722579 Q8IZF4 GP114_HUMAN G protein-coupled receptor 114 precursor 445 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1) 1 CGGGAGCGGGCGGATGCACCA 0.652 NA 9 33 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578412 7578412 + Missense_Mutation SNP A A C TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr17:7578412A>C uc002gim.2 - 5 712 c.518T>G c.(517-519)GTG>GGG p.V173G TP53_uc002gig.1_Missense_Mutation_p.V173G|TP53_uc002gih.2_Missense_Mutation_p.V173G|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V41G|TP53_uc010cng.1_Missense_Mutation_p.V41G|TP53_uc002gii.1_Missense_Mutation_p.V41G|TP53_uc010cnh.1_Missense_Mutation_p.V173G|TP53_uc010cni.1_Missense_Mutation_p.V173G|TP53_uc002gij.2_Missense_Mutation_p.V173G|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.V80G|TP53_uc002gio.2_Missense_Mutation_p.V41G|TP53_uc010vug.1_Missense_Mutation_p.V134G NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 173 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> A (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.V173L(50)|p.V173M(39)|p.V173A(8)|p.V173V(8)|p.0?(7)|p.V173G(6)|p.V173fs*1(4)|p.V173fs*59(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.V173E(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCAGCGCCTCACAACCTCCGT 0.662 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 32 35 0 0 0 0 DNAH2 146754 broad.mit.edu 37 17 7699949 7699949 + Missense_Mutation SNP C C G TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr17:7699949C>G uc002giu.1 + 49 7856 c.7842C>G c.(7840-7842)TTC>TTG p.F2614L NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 2614 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) ATTACCTCTTCAACCTTCGAG 0.572 NA 14 42 0 0 0 0 ALOX12B 242 broad.mit.edu 37 17 7983127 7983127 + Missense_Mutation SNP G G A TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr17:7983127G>A uc002gjy.1 - 7 1148 c.887C>T c.(886-888)CCG>CTG p.P296L uc010cnq.1_RNA NM_001139 NP_001130 O75342 LX12B_HUMAN arachidonate 12-lipoxygenase, 12R type 296 Lipoxygenase. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity 0 GCCCAGGAACGGAGCCACCAT 0.527 NA Multiple Myeloma(8;0.094) 4 17 0 0 0 0 CCDC144A 9720 broad.mit.edu 37 17 16612763 16612763 + Missense_Mutation SNP C C A TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr17:16612763C>A uc002gqk.1 + 5 1468 c.1392C>A c.(1390-1392)AAC>AAA p.N464K CCDC144A_uc002gql.1_Intron|LOC162632_uc010cpj.1_5'Flank NM_014695 NP_055510 A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 464 0 GCAGTACAAACAACTATAAAA 0.348 NA 5 70 0.000157383 0.000241282 1 0 ABCA10 10349 broad.mit.edu 37 17 67178387 67178387 + Silent SNP A A G TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr17:67178387A>G uc010dfa.1 - 23 3555 c.2676T>C c.(2674-2676)TGT>TGC p.C892C ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Silent_p.C493C NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A, member 10 892 Helical; (Potential). transport integral to membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;6.95e-12) GAACAGGAAAACAATTCAATT 0.294 NA 4 21 0 0 0 0 DSEL 92126 broad.mit.edu 37 18 65180897 65180897 + Missense_Mutation SNP C C A TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr18:65180897C>A uc002lke.1 - 2 2203 c.979G>T c.(979-981)GCC>TCC p.A327S NM_032160 NP_115536 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 317 integral to membrane isomerase activity|sulfotransferase activity ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(42;0.129) AAAAGGGTGGCATAATAGAAC 0.383 NA 15 73 0.000219431 0.000335175 1 0 OCEL1 79629 broad.mit.edu 37 19 17337542 17337542 + Missense_Mutation SNP C C T TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr19:17337542C>T uc002nfp.2 + 2 112 c.110C>T c.(109-111)GCC>GTC p.A37V NM_024578 NP_078854 Q9H607 OCEL1_HUMAN occludin/ELL domain containing 1 37 Pro-rich. central_nervous_system(1) 1 GGACACGACGCCCCCCGCAGG 0.756 NA 13 6 0 0 0 0 SERTAD1 29950 broad.mit.edu 37 19 40929409 40929409 + Silent SNP C C T TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr19:40929409C>T uc002ont.3 - 2 204 c.45G>A c.(43-45)GAG>GAA p.E15E NM_013376 NP_037508 Q9UHV2 SRTD1_HUMAN SERTA domain containing 1 15 positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent 0 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GAGGTTCCTTCTCCTCCTCCT 0.458 NA 9 41 0 0 0 0 ZNF404 342908 broad.mit.edu 37 19 44376738 44376738 + Missense_Mutation SNP C C G TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr19:44376738C>G uc002oxs.3 - 2 1628 c.1619G>C c.(1618-1620)AGA>ACA p.R540T NM_001033719 NP_001028891 Q494X3 ZN404_HUMAN zinc finger protein 404 543 C2H2-type 15. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352) ATGGTGAAATCTTTGATGTTG 0.343 NA 5 16 0 0 0 0 SNRPD2 6633 broad.mit.edu 37 19 46190835 46190835 + Silent SNP C C G TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr19:46190835C>G uc002pcw.2 - 3 630 c.333G>C c.(331-333)CGG>CGC p.R111R SNRPD2_uc002pcv.2_Silent_p.R101R NM_004597 NP_004588 P62316 SMD2_HUMAN small nuclear ribonucleoprotein D2 isoform 1 111 ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex protein binding 0 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194) TGAGCGGGTTCCGCAGGACCA 0.547 NA 9 43 0 0 0 0 ANTXR1 84168 broad.mit.edu 37 2 69302734 69302734 + Nonsense_Mutation SNP C C T TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr2:69302734C>T uc002sfg.2 + 7 861 c.505C>T c.(505-507)CGA>TGA p.R169* ANTXR1_uc002sfe.2_Nonsense_Mutation_p.R169*|ANTXR1_uc002sff.2_Nonsense_Mutation_p.R169*|ANTXR1_uc002sfd.2_Nonsense_Mutation_p.R169* NM_032208 NP_115584 Q9H6X2 ANTR1_HUMAN anthrax toxin receptor 1 isoform 1 precursor 169 Extracellular (Potential).|VWFA. actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading filopodium membrane|integral to membrane|lamellipodium membrane actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity ovary(2)|skin(2) 4 TAATAGGTCTCGAGATCTTGG 0.418 NA Familial_Infantile_Hemangioma 20 151 0 0 0 0 LRP2 4036 broad.mit.edu 37 2 170058335 170058335 + Missense_Mutation SNP C C T TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr2:170058335C>T uc002ues.2 - 44 8468 c.8255G>A c.(8254-8256)CGA>CAA p.R2752Q NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 2752 Extracellular (Potential).|LDL-receptor class A 17. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TTGGACACATCGCCCATTGGC 0.483 NA 9 33 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179542570 179542570 + Missense_Mutation SNP T T C TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr2:179542570T>C uc010zfg.1 - 143 30561 c.30337A>G c.(30337-30339)ATT>GTT p.I10113V TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.I6774V|TTN_uc010fre.1_Intron|TTN_uc002una.1_RNA|TTN_uc010frf.1_RNA NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 11040 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) TCAGGAACAATTTCTTCTTCA 0.418 NA 16 93 0 0 0 0 ZDBF2 57683 broad.mit.edu 37 2 207171531 207171531 + Missense_Mutation SNP C C T TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr2:207171531C>T uc002vbp.2 + 5 2529 c.2279C>T c.(2278-2280)TCA>TTA p.S760L NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 760 nucleic acid binding|zinc ion binding ovary(3) 3 CCTCTTCTGTCAGTTACTGAG 0.408 NA 43 158 0 0 0 0 ABCA12 26154 broad.mit.edu 37 2 215914369 215914369 + Missense_Mutation SNP A A G TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr2:215914369A>G uc002vew.2 - 6 894 c.674T>C c.(673-675)CTA>CCA p.L225P ABCA12_uc010zjn.1_5'UTR NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 225 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 11 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CTGTTTGTTTAGTTCTTGGAG 0.388 NA 7 36 0 0 0 0 C20orf46 55321 broad.mit.edu 37 20 1161695 1161695 + Missense_Mutation SNP G G A TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr20:1161695G>A uc010gaa.1 - 3 787 c.568C>T c.(568-570)CTC>TTC p.L190F C20orf46_uc002weq.1_Missense_Mutation_p.L190F NM_018354 NP_060824 Q9NUR3 CT046_HUMAN hypothetical protein LOC55321 190 Helical; (Potential). integral to membrane protein binding ovary(1) 1 ACCGACAAGAGCATGCCGCCC 0.652 NA 4 42 0 0 0 0 BHLHE23 128408 broad.mit.edu 37 20 61637638 61637638 + Silent SNP G G A TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr20:61637638G>A uc002yeb.2 - 1 750 c.441C>T c.(439-441)GCC>GCT p.A147A NM_080606 NP_542173 Q8NDY6 BHE23_HUMAN basic helix-loop-helix domain containing, class 147 Helix-loop-helix motif. transcription, DNA-dependent nucleus DNA binding 0 TATAGTTCTTGGCGAGCAGCA 0.677 NA 6 28 0 0 0 0 TOP3B 8940 broad.mit.edu 37 22 22314743 22314743 + Missense_Mutation SNP A A C TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr22:22314743A>C uc002zvs.2 - 14 2039 c.1604T>G c.(1603-1605)CTC>CGC p.L535R TOP3B_uc010gtm.1_Missense_Mutation_p.L80R|TOP3B_uc002zvr.2_Missense_Mutation_p.L260R|TOP3B_uc010gtl.2_Missense_Mutation_p.L535R|TOP3B_uc002zvt.3_Missense_Mutation_p.L535R NM_003935 NP_003926 O95985 TOP3B_HUMAN topoisomerase (DNA) III beta 535 DNA topological change nucleus ATP binding|DNA topoisomerase type I activity|protein binding kidney(1) 1 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.145) GGTGGGCTTGAGCCGGCGCCC 0.612 NA 6 55 0 0 0 0 ZNF280A 129025 broad.mit.edu 37 22 22869426 22869426 + Missense_Mutation SNP C C G TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr22:22869426C>G uc002zwe.2 - 2 782 c.529G>C c.(529-531)GAT>CAT p.D177H LOC96610_uc011aim.1_Intron NM_080740 NP_542778 P59817 Z280A_HUMAN zinc finger protein 280A 177 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) CTTTTGGAATCTCTGCTGTTT 0.453 NA 14 88 0 0 0 0 GAS2L1 10634 broad.mit.edu 37 22 29708004 29708004 + Missense_Mutation SNP G G A TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr22:29708004G>A uc003afa.1 + 7 1763 c.1564G>A c.(1564-1566)GAA>AAA p.E522K GAS2L1_uc010gvm.1_Intron|GAS2L1_uc003afb.1_3'UTR|GAS2L1_uc003afc.1_Missense_Mutation_p.E522K|GAS2L1_uc003afd.1_Nonsense_Mutation_p.W521*|GAS2L1_uc003afe.1_Nonsense_Mutation_p.W521* NM_152236 NP_689422 Q99501 GA2L1_HUMAN growth arrest-specific 2 like 1 isoform a 522 cell cycle arrest cytoplasm|cytoskeleton 0 CCGGCGCCTGGAAGAGGAGTT 0.692 NA 30 132 0 0 0 0 DUSP18 150290 broad.mit.edu 37 22 31059928 31059928 + Silent SNP C C T TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr22:31059928C>T uc003aiu.2 - 2 564 c.63G>A c.(61-63)TCG>TCA p.S21S SLC35E4_uc003ait.2_Intron|DUSP18_uc010gwa.1_RNA|DUSP18_uc003aiw.1_Silent_p.S21S NM_152511 NP_689724 Q8NEJ0 DUS18_HUMAN dual specificity phosphatase 18 21 cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity 0 TGGTTATCTGCGAGAGGCCGC 0.557 NA 5 63 0 0 0 0 MON1A 84315 broad.mit.edu 37 3 49947692 49947692 + Silent SNP G G A TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr3:49947692G>A uc003cxz.2 - 4 1656 c.1530C>T c.(1528-1530)TTC>TTT p.F510F MON1A_uc003cya.2_Silent_p.F348F|MON1A_uc003cyb.2_Silent_p.F348F NM_032355 NP_115731 Q86VX9 MON1A_HUMAN MON1 homolog A isoform a 413 protein binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) GGCGCTCCTGGAAGCGGCGGC 0.627 NA 13 39 0 0 0 0 KIAA1524 57650 broad.mit.edu 37 3 108271206 108271206 + Missense_Mutation SNP T T A TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr3:108271206T>A uc003dxb.3 - 20 2691 c.2422A>T c.(2422-2424)ACA>TCA p.T808S NM_020890 NP_065941 Q8TCG1 CIP2A_HUMAN p90 autoantigen 808 Potential. cytoplasm|integral to membrane protein binding ovary(2)|central_nervous_system(1) 3 TGTACTTTTGTTTTTTGATGC 0.313 NA 4 13 0 0 0 0 ABCC5 10057 broad.mit.edu 37 3 183695333 183695333 + Missense_Mutation SNP T T C TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr3:183695333T>C uc003fmg.2 - 10 1541 c.1376A>G c.(1375-1377)GAA>GGA p.E459G ABCC5_uc011bqt.1_5'UTR|ABCC5_uc010hxl.2_Missense_Mutation_p.E459G NM_005688 NP_005679 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C, member 5 459 ABC transmembrane type-1 1. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CACTGAGGCTTCTGAGAGGGA 0.488 NA 13 27 0 0 0 0 GP5 2814 broad.mit.edu 37 3 194118222 194118222 + Missense_Mutation SNP G G A TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr3:194118222G>A uc003ftv.1 - 2 821 c.790C>T c.(790-792)CAT>TAT p.H264Y NM_004488 NP_004479 P40197 GPV_HUMAN glycoprotein V (platelet) precursor 264 Extracellular (Potential).|LRR 8. blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane skin(2)|breast(1) 3 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) TTGTGCGAATGAAGAAAGAGC 0.602 NA 13 70 0 0 0 0 UGT2B10 7365 broad.mit.edu 37 4 69870669 69870669 + Missense_Mutation SNP C C A TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr4:69870669C>A uc011cao.1 - 9 1517 c.1381G>T c.(1381-1383)GCT>TCT p.A461S UGT2B10_uc011can.1_Missense_Mutation_p.A377S P36537 UDB10_HUMAN RecName: Full=UDP-glucuronosyltransferase 2B28; Short=UDPGT 2B28; EC=2.4.1.17; Flags: Precursor; 498 Helical; (Potential). lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(3)|ovary(2) 5 GCCACACAGGCCAGCAGGAAC 0.448 NA 10 141 2.18e-05 3.4e-05 1 0 SLC4A4 8671 broad.mit.edu 37 4 72121007 72121007 + Missense_Mutation SNP G G T TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr4:72121007G>T uc003hfy.2 + 3 261 c.144G>T c.(142-144)AAG>AAT p.K48N SLC4A4_uc010iic.2_Missense_Mutation_p.K48N|SLC4A4_uc010iib.2_Missense_Mutation_p.K48N|SLC4A4_uc003hfz.2_Missense_Mutation_p.K48N|SLC4A4_uc003hga.2_5'UTR NM_001098484 NP_001091954 Q9Y6R1 S4A4_HUMAN solute carrier family 4, sodium bicarbonate 48 Cytoplasmic (Potential). basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|kidney(1)|skin(1) 5 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) ACAAGAGAAAGACAGGGCACA 0.438 NA 38 119 1.31e-17 2.19e-17 1 0 ART3 419 broad.mit.edu 37 4 77003501 77003501 + Silent SNP C C T TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr4:77003501C>T uc003hjo.2 + 3 713 c.594C>T c.(592-594)CTC>CTT p.L198L ART3_uc003hji.2_Silent_p.L198L|ART3_uc003hjj.2_Silent_p.L198L|ART3_uc003hjk.2_Silent_p.L198L|ART3_uc010ija.1_Silent_p.L198L|ART3_uc003hjn.2_Silent_p.L198L|ART3_uc003hjp.2_Intron|ART3_uc010ijb.2_Intron|ART3_uc003hjq.2_Intron|ART3_uc003hjr.2_Silent_p.L168L|ART3_uc010ijc.2_Silent_p.L168L|ART3_uc010ijd.2_Silent_p.L168L NM_001130016 NP_001123488 Q13508 NAR3_HUMAN ADP-ribosyltransferase 3 isoform a 198 protein ADP-ribosylation anchored to membrane|integral to plasma membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity ovary(2) 2 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) ATGACCAGCTCACTGTGTTAT 0.408 NA 13 38 0 0 0 0 UNC5C 8633 broad.mit.edu 37 4 96222864 96222864 + Missense_Mutation SNP C C T TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr4:96222864C>T uc003htp.1 - 3 537 c.383G>A c.(382-384)CGC>CAC p.R128H UNC5C_uc010ilc.1_Missense_Mutation_p.R128H|UNC5C_uc003htq.2_Missense_Mutation_p.R128H NM_003728 NP_003719 O95185 UNC5C_HUMAN unc5C precursor 128 Extracellular (Potential).|Ig-like. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity ovary(3)|pancreas(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) CACTTGCTGGCGCGAAATCTC 0.473 NA 13 28 0 0 0 0 ALPK1 80216 broad.mit.edu 37 4 113352354 113352354 + Nonsense_Mutation SNP C C T TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr4:113352354C>T uc003iap.3 + 11 1930 c.1651C>T c.(1651-1653)CAA>TAA p.Q551* ALPK1_uc003ian.3_Nonsense_Mutation_p.Q551*|ALPK1_uc011cfx.1_Nonsense_Mutation_p.Q473*|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Nonsense_Mutation_p.Q379* NM_025144 NP_079420 Q96QP1 ALPK1_HUMAN alpha-kinase 1 551 ATP binding|protein serine/threonine kinase activity ovary(5) 5 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) CTCCTTGGATCAAGATGTGGA 0.493 NA 9 69 0 0 0 0 ZNF827 152485 broad.mit.edu 37 4 146807275 146807275 + Missense_Mutation SNP C C A TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr4:146807275C>A uc003ikn.2 - 4 1350 c.1302G>T c.(1300-1302)CAG>CAT p.Q434H ZNF827_uc003ikm.2_Missense_Mutation_p.Q434H|ZNF827_uc010iox.2_Missense_Mutation_p.Q84H NM_178835 NP_849157 Q17R98 ZN827_HUMAN zinc finger protein 827 434 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_hematologic(180;0.151) ACAGCTGGCACTGAAAGGTCT 0.522 NA 7 16 8.13e-05 0.000125535 1 0 DCHS2 54798 broad.mit.edu 37 4 155157872 155157872 + Silent SNP T T A TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr4:155157872T>A uc003inw.2 - 25 6567 c.6567A>T c.(6565-6567)CCA>CCT p.P2189P NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 2189 Cadherin 19. 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) TGGAACTCAATGGAGGGCAGC 0.468 NA 12 31 0 0 0 0 DCHS2 54798 broad.mit.edu 37 4 155157874 155157874 + Missense_Mutation SNP G G A TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr4:155157874G>A uc003inw.2 - 25 6565 c.6565C>T c.(6565-6567)CCA>TCA p.P2189S NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 2189 Cadherin 19. 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) GAACTCAATGGAGGGCAGCCA 0.463 NA 13 29 0 0 0 0 FSTL5 56884 broad.mit.edu 37 4 162307346 162307346 + Silent SNP G G A TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr4:162307346G>A uc003iqh.2 - 16 2533 c.2097C>T c.(2095-2097)GTC>GTT p.V699V FSTL5_uc003iqi.2_Silent_p.V698V|FSTL5_uc010iqv.2_Silent_p.V689V|uc010iqu.1_RNA NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 699 extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) CATCTGGAGAGACATATGGAG 0.473 NA 13 66 0 0 0 0 ANP32C 23520 broad.mit.edu 37 4 165118599 165118599 + Missense_Mutation SNP G G C TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr4:165118599G>C uc011cjk.1 - 1 265 c.265C>G c.(265-267)CTA>GTA p.L89V MARCH1_uc003iqs.1_Intron NM_012403 NP_036535 O43423 AN32C_HUMAN acidic nuclear phosphoprotein 32C 89 LRR 3. 0 all_hematologic(180;0.203) Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223) KIRC - Kidney renal clear cell carcinoma(143;0.242) CTTAAATATAGATGCGTGAGG 0.408 NA 27 133 0 0 0 0 DDX60 55601 broad.mit.edu 37 4 169215016 169215016 + Silent SNP G G A TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr4:169215016G>A uc003irp.2 - 7 1096 c.804C>T c.(802-804)TGC>TGT p.C268C NM_017631 NP_060101 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 268 ATP binding|ATP-dependent helicase activity|RNA binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) AAGATAATGAGCATGAAGTAA 0.413 NA 14 78 0 0 0 0 TRIP13 9319 broad.mit.edu 37 5 908529 908529 + Silent SNP C C T TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr5:908529C>T uc003jbr.2 + 9 929 c.819C>T c.(817-819)GCC>GCT p.A273A TRIP13_uc010ite.1_Silent_p.A273A NM_004237 NP_004228 Q15645 PCH2_HUMAN thyroid hormone receptor interactor 13 273 double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity 0 Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165) CATCAGATGCCATCCGCGTGG 0.542 NA 13 73 0 0 0 0 PRKAA1 5562 broad.mit.edu 37 5 40798208 40798208 + Silent SNP A A G TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr5:40798208A>G uc003jmc.2 - 1 90 c.84T>C c.(82-84)ATT>ATC p.I28I PRKAA1_uc003jmb.2_Silent_p.I28I NM_006251 NP_006242 Q13131 AAPK1_HUMAN protein kinase, AMP-activated, alpha 1 catalytic 28 Protein kinase. activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia cytosol ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding breast(1) 1 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914) TGTCACCCAGAATGTAGTGGC 0.602 NA 8 32 0 0 0 0 BHMT2 23743 broad.mit.edu 37 5 78379594 78379594 + Missense_Mutation SNP A A G TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr5:78379594A>G uc003kft.2 + 7 948 c.925A>G c.(925-927)AGG>GGG p.R309G BHMT2_uc011cth.1_Missense_Mutation_p.R245G NM_017614 NP_060084 Q9H2M3 BHMT2_HUMAN betaine-homocysteine methyltransferase 2 309 methionine biosynthetic process cytoplasm betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding ovary(1) 1 all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36) L-Methionine(DB00134) GGCCCCAGAAAGGGGCTTTTT 0.537 NA 6 32 0 0 0 0 CMYA5 202333 broad.mit.edu 37 5 79028659 79028659 + Silent SNP T T C TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr5:79028659T>C uc003kgc.2 + 2 4143 c.4071T>C c.(4069-4071)TCT>TCC p.S1357S NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 1357 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) CTACAGCATCTGTAACTAAGC 0.373 NA 9 33 0 0 0 0 PAM 5066 broad.mit.edu 37 5 102342680 102342680 + Missense_Mutation SNP C C T TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr5:102342680C>T uc003knw.2 + 18 2352 c.1979C>T c.(1978-1980)TCA>TTA p.S660L PAM_uc003kns.2_Missense_Mutation_p.S553L|PAM_uc003knt.2_Missense_Mutation_p.S660L|PAM_uc003knu.2_Missense_Mutation_p.S660L|PAM_uc003knv.2_Missense_Mutation_p.S660L|PAM_uc011cuz.1_Missense_Mutation_p.S563L|PAM_uc003knz.2_5'Flank NM_000919 NP_000910 P19021 AMD_HUMAN peptidylglycine alpha-amidating monooxygenase 660 Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity).|NHL 3.|Intragranular (Potential). peptide metabolic process|protein modification process extracellular region|integral to membrane|stored secretory granule L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding 0 all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284) Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127) Vitamin C(DB00126) GTGCAGTTTTCACCAAGTGGA 0.438 NA 13 66 0 0 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140871168 140871168 + Missense_Mutation SNP C C A TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr5:140871168C>A uc003lla.1 + 1 2361 c.2361C>A c.(2359-2361)TTC>TTA p.F787L PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc003lky.1_Intron|PCDHGC5_uc011dbc.1_Missense_Mutation_p.F787L NM_018929 NP_061752 Q9Y5F6 PCDGM_HUMAN protocadherin gamma subfamily C, 5 isoform 1 787 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAGTGACTTCACTTTTCTAA 0.632 NA 9 45 3.07e-06 4.87e-06 1 0 HAND1 9421 broad.mit.edu 37 5 153855399 153855399 + Silent SNP C C T TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr5:153855399C>T uc003lvn.2 - 2 871 c.615G>A c.(613-615)CCG>CCA p.P205P NM_004821 NP_004812 O96004 HAND1_HUMAN basic helix-loop-helix transcription factor 205 angiogenesis|cardiac left ventricle formation|cardiac right ventricle formation|cardiac septum morphogenesis|heart looping|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|trophectodermal cell differentiation|ventricular cardiac muscle tissue morphogenesis cytoplasm|nucleolus|nucleoplasm bHLH transcription factor binding|DNA binding|protein homodimerization activity|transcription coactivator activity 0 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) AGACTTGCTGCGGCCAGCCGG 0.632 NA 8 31 0 0 0 0 BTN1A1 696 broad.mit.edu 37 6 26509261 26509261 + Missense_Mutation SNP G G C TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr6:26509261G>C uc003nif.3 + 7 1460 c.1440G>C c.(1438-1440)GAG>GAC p.E480D NM_001732 NP_001723 Q13410 BT1A1_HUMAN butyrophilin, subfamily 1, member A1 precursor 480 Cytoplasmic (Potential). extracellular region|integral to plasma membrane receptor activity ovary(1)|skin(1) 2 ATGGGCCTGAGAGGGTCACAG 0.552 NA 14 54 0 0 0 0 DDR1 780 broad.mit.edu 37 6 30866738 30866738 + Missense_Mutation SNP C C T TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr6:30866738C>T uc003nrr.2 + 18 2784 c.2525C>T c.(2524-2526)GCC>GTC p.A842V DDR1_uc010jse.2_Missense_Mutation_p.A805V|DDR1_uc003nrq.2_Missense_Mutation_p.A805V|DDR1_uc003nrs.2_Missense_Mutation_p.A842V|DDR1_uc003nrt.2_Missense_Mutation_p.A805V|DDR1_uc011dms.1_Missense_Mutation_p.A823V|DDR1_uc003nru.2_Missense_Mutation_p.A805V|DDR1_uc003nrv.2_Missense_Mutation_p.A848V|DDR1_uc003nrz.1_Missense_Mutation_p.A167V NM_013993 NP_054699 Q08345 DDR1_HUMAN discoidin domain receptor family, member 1 842 Cytoplasmic (Potential).|Protein kinase. cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1) 9 Imatinib(DB00619) CTCTGTAGGGCCCAGCCCTTT 0.617 NA 19 69 0 0 0 0 CRISP3 10321 broad.mit.edu 37 6 49703279 49703279 + Missense_Mutation SNP T T C TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr6:49703279T>C uc003ozs.2 - 4 230 c.215A>G c.(214-216)AAT>AGT p.N72S NM_006061 NP_006052 P54108 CRIS3_HUMAN cysteine-rich secretory protein 3 precursor 72 innate immune response proteinaceous extracellular matrix|specific granule skin(2) 2 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) CTTTTGGGCATTTGCTGCAGC 0.368 NA 21 97 0 0 0 0 TBX18 9096 broad.mit.edu 37 6 85472362 85472362 + Missense_Mutation SNP G G C TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr6:85472362G>C uc003pkl.1 - 2 397 c.397C>G c.(397-399)CTG>GTG p.L133V TBX18_uc010kbq.1_5'UTR NM_001080508 NP_001073977 O95935 TBX18_HUMAN T-box 18 133 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|pancreas(2)|lung(1) 5 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) GGCGAGGGCAGAGGGGTCCCG 0.697 NA 10 57 0 0 0 0 RNF216 54476 broad.mit.edu 37 7 5780720 5780720 + Missense_Mutation SNP C C G TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr7:5780720C>G uc003soy.1 - 4 947 c.757G>C c.(757-759)GAG>CAG p.E253Q RNF216_uc010ksz.1_5'UTR|RNF216_uc010kta.1_Intron|RNF216_uc011jwj.1_Intron|RNF216_uc003sox.1_Missense_Mutation_p.E310Q NM_207116 NP_996999 Q9NWF9 RN216_HUMAN ring finger protein 216 isoform b 253 apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus|nucleus ligase activity|protein binding|protein binding|zinc ion binding ovary(3)|breast(2) 5 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) GGACCTGGCTCTTCATCATCA 0.517 NA 10 94 0 0 0 0 THSD7A 221981 broad.mit.edu 37 7 11514030 11514030 + Missense_Mutation SNP C C A TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr7:11514030C>A uc003ssf.3 - 8 2435 c.2183G>T c.(2182-2184)TGC>TTC p.C728F NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 728 TSP type-1 7.|Extracellular (Potential). integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) GCCGACAGAGCAGGAGGCCTC 0.507 NA HNSCC(18;0.044) 16 67 0.000566183 0.00085854 1 0 CPVL 54504 broad.mit.edu 37 7 29035453 29035453 + Missense_Mutation SNP G G C TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr7:29035453G>C uc003szv.2 - 13 1485 c.1366C>G c.(1366-1368)CTG>GTG p.L456V CPVL_uc003szw.2_Missense_Mutation_p.L456V|CPVL_uc003szx.2_Missense_Mutation_p.L456V NM_031311 NP_112601 Q9H3G5 CPVL_HUMAN serine carboxypeptidase vitellogenic-like 456 proteolysis protein binding|serine-type carboxypeptidase activity ovary(2) 2 AAAGCTCTCAGAGGCTGGTCA 0.343 NA 4 35 0 0 0 0 INMT 11185 broad.mit.edu 37 7 30791838 30791838 + Silent SNP C C T TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr7:30791838C>T uc003tbs.1 + 1 88 c.72C>T c.(70-72)TAC>TAT p.Y24Y FAM188B_uc010kwe.2_5'UTR|INMT_uc010kwc.1_Intron|INMT_uc010kwd.1_Silent_p.Y24Y NM_006774 NP_006765 O95050 INMT_HUMAN indolethylamine N-methyltransferase 24 cytoplasm amine N-methyltransferase activity 0 TGGCTACTTACTACAGCTTCG 0.577 NA 52 101 0 0 0 0 FKBP9 11328 broad.mit.edu 37 7 33028259 33028259 + Missense_Mutation SNP G G T TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr7:33028259G>T uc003tdh.2 + 6 1215 c.1034G>T c.(1033-1035)GGA>GTA p.G345V AVL9_uc011kai.1_Intron|FKBP9_uc011kak.1_RNA|FKBP9_uc011kal.1_Missense_Mutation_p.G398V|FKBP9_uc011kam.1_Missense_Mutation_p.G113V|FKBP9_uc003tdg.2_Missense_Mutation_p.G345V NM_007270 NP_009201 O95302 FKBP9_HUMAN FK506 binding protein 9 precursor 345 PPIase FKBP-type 3. protein folding endoplasmic reticulum|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity central_nervous_system(13)|ovary(1) 14 GBM - Glioblastoma multiforme(11;0.0156) GGAGAGGAAGGAAGAGGTGAG 0.463 NA 10 54 1.77e-08 2.87e-08 1 0 ZP3 7784 broad.mit.edu 37 7 76062842 76062842 + Missense_Mutation SNP C C G TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr7:76062842C>G uc003ufd.3 + 4 601 c.591C>G c.(589-591)CAC>CAG p.H197Q ZP3_uc003ufc.3_Missense_Mutation_p.H146Q|ZP3_uc003ufe.2_Missense_Mutation_p.H105Q NM_001110354 NP_001103824 P21754 ZP3_HUMAN zona pellucida glycoprotein 3 isoform 1 197 Extracellular (Potential).|ZP. binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding 0 ATGCAGCCCACCTCCAGGCAG 0.502 NA 14 109 0 0 0 0 ABCB4 5244 broad.mit.edu 37 7 87035604 87035604 + Silent SNP G G A TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr7:87035604G>A uc003uiv.1 - 26 3583 c.3507C>T c.(3505-3507)CAC>CAT p.H1169H ABCB4_uc003uiw.1_Silent_p.H1162H|ABCB4_uc003uix.1_Silent_p.H1115H NM_018849 NP_061337 P21439 MDR3_HUMAN ATP-binding cassette, subfamily B, member 4 1169 ABC transporter 2.|Cytoplasmic (By similarity). cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity ovary(4)|skin(1)|pancreas(1) 6 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) TTTAACTTACGTGGGGTAACG 0.393 NA 19 175 0 0 0 0 SSPO 23145 broad.mit.edu 37 7 149489170 149489170 + Silent SNP C C T TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr7:149489170C>T uc010lpk.2 + 37 5415 c.5415C>T c.(5413-5415)GAC>GAT p.D1805D NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 1805 TSP type-1 2. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GCCCTCAGGACGGCTGCCCCA 0.632 NA 11 56 0 0 0 0 HNF4G 3174 broad.mit.edu 37 8 76476246 76476246 + Missense_Mutation SNP G G T TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr8:76476246G>T uc003yaq.2 + 11 1412 c.1142G>T c.(1141-1143)GGC>GTC p.G381V HNF4G_uc003yar.2_Missense_Mutation_p.G418V NM_004133 NP_004124 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma 381 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding p.G381D(1) ovary(1) 1 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) CCACCACAAGGCTCTGGGCAA 0.448 NA 21 138 1.96e-10 3.22e-10 1 0 PDP1 54704 broad.mit.edu 37 8 94934378 94934378 + Missense_Mutation SNP C C T TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr8:94934378C>T uc003yge.2 + 2 360 c.91C>T c.(91-93)CAT>TAT p.H31Y PDP1_uc003ygf.2_Missense_Mutation_p.H56Y|PDP1_uc010max.2_Missense_Mutation_p.H56Y|PDP1_uc011lgm.1_Missense_Mutation_p.H31Y|PDP1_uc011lgn.1_Missense_Mutation_p.H90Y NM_018444 NP_060914 Q9P0J1 PDP1_HUMAN pyruvate dehyrogenase phosphatase catalytic 31 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|protein serine/threonine phosphatase complex [pyruvate dehydrogenase (lipoamide)] phosphatase activity ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1) 4 CCACCACAAACATCTCTGTTG 0.483 NA 10 100 0 0 0 0 ASAP1 50807 broad.mit.edu 37 8 131127878 131127878 + Missense_Mutation SNP T T A TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr8:131127878T>A uc003yta.1 - 22 2196 c.2168A>T c.(2167-2169)GAC>GTC p.D723V ASAP1_uc003ysz.1_Missense_Mutation_p.D534V|ASAP1_uc011liw.1_Missense_Mutation_p.D716V NM_018482 NP_060952 Q9ULH1 ASAP1_HUMAN development and differentiation enhancing factor 723 cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding ovary(4) 4 ACTCACTTTGTCATCCAGATC 0.413 NA 71 233 0 0 0 0 FAM135B 51059 broad.mit.edu 37 8 139165105 139165105 + Missense_Mutation SNP C C T TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr8:139165105C>T uc003yuy.2 - 13 1784 c.1613G>A c.(1612-1614)AGA>AAA p.R538K FAM135B_uc003yux.2_Missense_Mutation_p.R439K|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.R100K|FAM135B_uc003yvb.2_Missense_Mutation_p.R100K NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 538 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TGGACTCCTTCTAGAAGTATC 0.502 NA HNSCC(54;0.14) 8 91 0 0 0 0 KIAA0368 23392 broad.mit.edu 37 9 114184479 114184479 + Missense_Mutation SNP G G A TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr9:114184479G>A uc004bfe.1 - 15 1801 c.1801C>T c.(1801-1803)CGG>TGG p.R601W KIAA0368_uc010muc.1_Missense_Mutation_p.R423W NM_001080398 NP_001073867 KIAA0368 protein 0 TGTGGCATCCGACTGCAAAAG 0.353 NA 14 56 0 0 0 0 ARSD 414 broad.mit.edu 37 X 2833637 2833637 + Silent SNP G G T TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chrX:2833637G>T uc004cqy.2 - 6 1036 c.960C>A c.(958-960)GGC>GGA p.G320G ARSD_uc004cqz.1_Intron|ARSD_uc004cra.1_Silent_p.G320G NM_001669 NP_001660 P51689 ARSD_HUMAN arylsulfatase D isoform a precursor 320 lysosome arylsulfatase activity|metal ion binding 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CACCATATAAGCCATGCTGAC 0.512 NA 8 72 5.18e-06 8.12e-06 1 0 ZFX 7543 broad.mit.edu 37 X 24228854 24228854 + Silent SNP G G A TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chrX:24228854G>A uc004dbf.2 + 9 2037 c.1779G>A c.(1777-1779)ACG>ACA p.T593T ZFX_uc004dbe.2_3'UTR|ZFX_uc011mjv.1_Silent_p.T632T|ZFX_uc010nfz.2_Silent_p.T249T NM_003410 NP_003401 P17010 ZFX_HUMAN zinc finger protein, X-linked 593 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(2) 2 ACTTGAAAACGCATGTCAAAA 0.438 NA 7 67 0 0 0 0 ZNF630 57232 broad.mit.edu 37 X 47919827 47919827 + Splice_Site SNP A A T TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chrX:47919827A>T uc004div.3 - 4 490 c.238_splice c.e4+1 p.D80_splice ZNF630_uc010nhz.1_Splice_Site|ZNF630_uc004diw.2_Splice_Site NM_001037735 NP_001032824 Q2M218 ZN630_HUMAN zinc finger protein 630 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|lung(1) 2 ATTCTCACTTACCTGGGTAGA 0.428 NA 10 81 0 0 0 0 TMEM35 59353 broad.mit.edu 37 X 100349902 100349902 + Missense_Mutation SNP C C G TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chrX:100349902C>G uc004egw.2 + 2 617 c.461C>G c.(460-462)TCC>TGC p.S154C NM_021637 NP_067650 Q53FP2 TMM35_HUMAN transmembrane protein 35 154 cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane 0 GAGCAACCCTCCTTATATGAG 0.532 NA 11 71 0 0 0 0 FMR1NB 158521 broad.mit.edu 37 X 147106392 147106392 + Missense_Mutation SNP G G A TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chrX:147106392G>A uc004fcm.2 + 5 714 c.640G>A c.(640-642)GCC>ACC p.A214T NM_152578 NP_689791 Q8N0W7 FMR1N_HUMAN fragile X mental retardation 1 neighbor 214 Cytoplasmic (Potential). integral to membrane ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) CAGCGAACCGGCCGATGATTT 0.378 NA 11 76 0 0 0 0 MAGEA11 4110 broad.mit.edu 37 X 148794917 148794917 + Splice_Site SNP T T A TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chrX:148794917T>A uc004fdq.2 + 2 198 c.96_splice c.e2+2 p.Q32_splice HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Intron NM_005366 NP_005357 P43364 MAGAB_HUMAN melanoma antigen family A, 11 isoform a cytoplasm|nucleus protein binding ovary(2) 2 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) GGACTCCAGGTCAGTAGGGAC 0.592 NA 16 37 0 0 0 0 CAPZA1 829 broad.mit.edu 37 1 113209755 113209758 + Frame_Shift_Del DEL ACTA ACTA - TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr1:113209755_113209758delACTA uc001ecj.1 + 8 1037_1040 c.645_648delACTA c.(643-648)TCACTAfs p.S215fs NM_006135 NP_006126 P52907 CAZA1_HUMAN F-actin capping protein alpha-1 subunit 215_216 actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly cytosol|extracellular region|F-actin capping protein complex|WASH complex actin binding 0 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TACAGGATTCACTAACTGTTTCGG 0.368 NA 12 74 --- --- --- --- NA NA NA NA DCHS1 8642 broad.mit.edu 37 11 6662746 6662748 + In_Frame_Del DEL CAG CAG - TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr11:6662746_6662748delCAG uc001mem.1 - 2 507_509 c.97_99delCTG c.(97-99)CTGdel p.L33del NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 33 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCCCAGCCCCcagcagcagcagc 0.527 NA 2 4 --- --- --- --- NA NA NA NA ARID2 196528 broad.mit.edu 37 12 46243822 46243823 + Frame_Shift_Ins INS - - C TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr12:46243822_46243823insC uc001ros.1 + 15 1916_1917 c.1916_1917insC c.(1915-1917)ATCfs p.I639fs ARID2_uc001ror.2_Frame_Shift_Ins_p.I639fs|ARID2_uc009zkg.1_Frame_Shift_Ins_p.I95fs|ARID2_uc009zkh.1_Frame_Shift_Ins_p.I266fs|ARID2_uc001rou.1_5'UTR NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 639 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TTTTCAGGAATCCCTCATGGAT 0.337 NA 24 62 --- --- --- --- NA NA NA NA NARG2 79664 broad.mit.edu 37 15 60745913 60745914 + Frame_Shift_Del DEL TC TC - TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr15:60745913_60745914delTC uc002agp.2 - 9 1248_1249 c.1013_1014delGA c.(1012-1014)AGAfs p.R338fs NARG2_uc002ago.2_Frame_Shift_Del_p.R201fs|NARG2_uc002agq.3_Frame_Shift_Del_p.R6fs|NARG2_uc010bgk.2_Frame_Shift_Del_p.R338fs|NARG2_uc002agr.1_Frame_Shift_Del_p.R338fs NM_024611 NP_078887 Q659A1 NARG2_HUMAN NMDA receptor regulated 2 isoform a 338 nucleus ovary(1)|lung(1) 2 AGATTTGATTTCTCTCTCTCAT 0.317 NA 12 76 --- --- --- --- NA NA NA NA GRIN2A 2903 broad.mit.edu 37 16 10274133 10274135 + In_Frame_Del DEL CGT CGT - TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr16:10274133_10274135delCGT uc002czo.3 - 2 682_684 c.134_136delACG c.(133-138)GACGTG>GTG p.D45del GRIN2A_uc010uym.1_In_Frame_Del_p.D45del|GRIN2A_uc002czr.3_In_Frame_Del_p.D45del|GRIN2A_uc010buk.2_In_Frame_Del_p.D45del NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 45 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CGCTCTGTCACGTCGTGGCTGTG 0.695 NA 37 87 --- --- --- --- NA NA NA NA MCC 4163 broad.mit.edu 37 5 112824048 112824049 + In_Frame_Ins INS - - GCC TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 368030ac-f855-452a-a3d3-3698ab9a00dd fec68b4e-7544-4bf0-8ceb-10e833435522 g.chr5:112824048_112824049insGCC uc003kql.3 - 1 479_480 c.63_64insGGC c.(61-66)insGGC p.21_22insG NM_001085377 NP_001078846 P23508 CRCM_HUMAN mutated in colorectal cancers isoform 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity ovary(1) 1 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) ctgctgccgctgccgccgccgc 0.391 NA 8 11 --- --- --- --- NA NA NA NA