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 isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample MFN2 9927 broad.mit.edu 37 1 12065806 12065806 + Missense_Mutation SNP C C G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr1:12065806C>G uc001atn.3 + 15 1987 c.1534C>G c.(1534-1536)CAG>GAG p.Q512E MFN2_uc009vni.2_Missense_Mutation_p.Q512E NM_014874 NP_055689 O95140 MFN2_HUMAN mitofusin 2 512 Cytoplasmic (Potential). blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion cytosol|integral to membrane|intrinsic to mitochondrial outer membrane GTP binding|GTPase activity|ubiquitin protein ligase binding ovary(1) 1 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) TGTGCGGAGTCAGATAGACAT 0.512 NaN 0 0 0 0.00361 0 78 287 EYA3 2140 broad.mit.edu 37 1 28362171 28362171 + Nonsense_Mutation SNP G G C TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr1:28362171G>C uc001bpi.1 - 6 410 c.245C>G c.(244-246)TCA>TGA p.S82* EYA3_uc010ofs.1_Nonsense_Mutation_p.S29*|EYA3_uc010oft.1_Nonsense_Mutation_p.S82*|EYA3_uc001bpj.2_Nonsense_Mutation_p.S82*|EYA3_uc001bpk.1_RNA|EYA3_uc010ofu.1_RNA NM_001990 NP_001981 Q99504 EYA3_HUMAN eyes absent 3 82 anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception cytoplasm metal ion binding|protein binding|protein tyrosine phosphatase activity ovary(2)|skin(1) 3 Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642) AACAGGAACTGAGAGAATATG 0.398 NaN 0 0 0 0.001984 0 7 134 PHACTR4 65979 broad.mit.edu 37 1 28817515 28817515 + Silent SNP C C G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr1:28817515C>G uc001bpw.2 + 11 2151 c.1869C>G c.(1867-1869)CTC>CTG p.L623L PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Silent_p.L607L|PHACTR4_uc001bpy.2_Silent_p.L633L|PHACTR4_uc001bpz.2_5'Flank NM_001048183 NP_001041648 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 isoform 1 623 RPEL 3. actin binding|protein phosphatase inhibitor activity 0 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) AACGTCGGCTCACTAGAAAGG 0.333 NaN 0 0 0 0.004482 0 9 74 KDM4A 9682 broad.mit.edu 37 1 44156655 44156655 + Missense_Mutation SNP A A T TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr1:44156655A>T uc001cjx.2 + 14 2343 c.2177A>T c.(2176-2178)TAT>TTT p.Y726F KDM4A_uc010oki.1_Intron NM_014663 NP_055478 O75164 KDM4A_HUMAN jumonji domain containing 2A 726 PHD-type 1. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleolus histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding skin(1) 1 TCTACTCCTTATCTTGAGGAG 0.532 NaN 0 0 0 0.00361 0 60 379 DENND2C 163259 broad.mit.edu 37 1 115168392 115168392 + Missense_Mutation SNP C C T TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr1:115168392C>T uc001efd.1 - 4 916 c.214G>A c.(214-216)GAT>AAT p.D72N DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Missense_Mutation_p.D72N NM_198459 NP_940861 Q68D51 DEN2C_HUMAN DENN/MADD domain containing 2C 72 skin(3) 3 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) CTGGTTACATCCAAGTTTTTG 0.363 NaN 0 0 0 0.003954 0 26 171 FLG2 388698 broad.mit.edu 37 1 152323576 152323576 + Missense_Mutation SNP G G A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr1:152323576G>A uc001ezw.3 - 3 6759 c.6686C>T c.(6685-6687)ACC>ATC p.T2229I uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 2229 calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATGTCTAGTGGTATCTCCTGT 0.527 NaN 0 0 0 0.00361 0 203 475 FLG2 388698 broad.mit.edu 37 1 152325626 152325626 + Missense_Mutation SNP G G T TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr1:152325626G>T uc001ezw.3 - 3 4709 c.4636C>A c.(4636-4638)CAG>AAG p.Q1546K uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 1546 calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCTCCTGTCTGTCCATGAGTA 0.483 NaN 1 0 7.82978e-24 0.00361 8.90638e-24 65 434 PBXIP1 57326 broad.mit.edu 37 1 154920741 154920741 + Missense_Mutation SNP G G C TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr1:154920741G>C uc001ffr.2 - 6 570 c.511C>G c.(511-513)CAG>GAG p.Q171E PBXIP1_uc001ffs.2_Missense_Mutation_p.Q142E|PBXIP1_uc010pep.1_Missense_Mutation_p.Q16E NM_020524 NP_065385 Q96AQ6 PBIP1_HUMAN pre-B-cell leukemia homeobox interacting protein 171 cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent cytosol|microtubule|nucleus protein binding|transcription corepressor activity large_intestine(1) 1 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) ACCATGGGCTGAGGTGGGCCG 0.692 NaN 0 0 0 0.001168 0 5 13 ZBTB7B 51043 broad.mit.edu 37 1 154988787 154988787 + Missense_Mutation SNP G G A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr1:154988787G>A uc001fgk.3 + 4 1404 c.1246G>A c.(1246-1248)GAC>AAC p.D416N ZBTB7B_uc009wpa.2_Missense_Mutation_p.D416N|ZBTB7B_uc001fgj.3_Missense_Mutation_p.D450N|ZBTB7B_uc010peq.1_Missense_Mutation_p.D450N|ZBTB7B_uc001fgl.3_Missense_Mutation_p.D416N NM_015872 NP_056956 O15156 ZBT7B_HUMAN zinc finger and BTB domain containing 7B 416 C2H2-type 3. cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding 0 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GCACAGCTACGACCTCAAGAA 0.627 NaN 0 0 0 0.008361 0 32 91 DPM3 54344 broad.mit.edu 37 1 155112686 155112686 + Silent SNP G G A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr1:155112686G>A uc001fhn.2 - 2 66 c.31C>T c.(31-33)CTA>TTA p.L11L RAG1AP1_uc010pey.1_Intron|DPM3_uc001fhm.2_Silent_p.L41L NM_153741 NP_714963 Q9P2X0 DPM3_HUMAN dolichyl-phosphate mannosyltransferase 11 Helical; (Potential). C-terminal protein lipidation|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan|protein N-linked glycosylation via asparagine|protein O-linked mannosylation|regulation of protein stability dolichol-phosphate-mannose synthase complex|integral to endoplasmic reticulum membrane protein binding 0 all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193) AGGATCGCTAGTCCCCAAAGC 0.478 NaN 0 0 0 0.002836 0 32 43 PAPPA2 60676 broad.mit.edu 37 1 176525600 176525600 + Missense_Mutation SNP G G A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr1:176525600G>A uc001gkz.2 + 2 1306 c.142G>A c.(142-144)GAA>AAA p.E48K PAPPA2_uc001gky.1_Missense_Mutation_p.E48K|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 48 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 GTTGGAAGGAGAACGTTGTTG 0.572 NaN 0 0 0 0.00308 0 7 152 FAM5C 339479 broad.mit.edu 37 1 190068168 190068168 + Silent SNP C C T TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr1:190068168C>T uc001gse.1 - 8 1513 c.1281G>A c.(1279-1281)ACG>ACA p.T427T FAM5C_uc010pot.1_Silent_p.T325T NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 427 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) CATTCGGACACGTGCACGAGT 0.587 NaN 0 0 0 0.000602 0 4 58 TTC13 79573 broad.mit.edu 37 1 231060618 231060618 + Missense_Mutation SNP C C G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr1:231060618C>G uc001huf.3 - 14 1721 c.1690G>C c.(1690-1692)GAC>CAC p.D564H TTC13_uc009xfi.2_Missense_Mutation_p.D511H|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.D511H|TTC13_uc009xfk.1_Missense_Mutation_p.D454H NM_024525 NP_078801 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 isoform a 564 binding ovary(1)|skin(1) 2 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) TCAAACATGTCTCTCCACTGC 0.423 NaN 0 0 0 0.007291 0 27 164 SIPA1L2 57568 broad.mit.edu 37 1 232649719 232649719 + Missense_Mutation SNP G G C TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr1:232649719G>C uc001hvg.2 - 1 1525 c.1367C>G c.(1366-1368)TCC>TGC p.S456C NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 456 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) TTCCAAGACGGAGACACCTGC 0.498 NaN 0 0 0 0.005443 0 26 210 FMN2 56776 broad.mit.edu 37 1 240370532 240370532 + Missense_Mutation SNP T T C TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr1:240370532T>C uc010pyd.1 + 5 2645 c.2420T>C c.(2419-2421)ATC>ACC p.I807T FMN2_uc010pye.1_Missense_Mutation_p.I811T NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 807 Pro-rich.|FH1. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) ACACAGAGCATCTCACAGCCT 0.527 NaN 0 0 0 0.000602 0 5 92 ZNF695 57116 broad.mit.edu 37 1 247151507 247151507 + Missense_Mutation SNP C C A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr1:247151507C>A uc009xgu.2 - 4 455 c.310G>T c.(310-312)GTT>TTT p.V104F ZNF695_uc001ica.2_RNA|ZNF695_uc001icb.1_RNA|ZNF695_uc009xgt.1_RNA|ZNF695_uc001ibx.2_Missense_Mutation_p.V104F|ZNF695_uc001iby.2_Intron|ZNF695_uc001icc.2_Missense_Mutation_p.V92F NM_020394 NP_065127 Q8IW36 ZN695_HUMAN zinc finger protein SBZF3 104 regulation of transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) TGGAATGAAACTTGCAGGCCC 0.373 NaN 1 0 6.57855e-14 0.009718 7.33038e-14 45 111 TUBAL3 79861 broad.mit.edu 37 10 5436157 5436157 + Missense_Mutation SNP G G A rs149499697 byFrequency TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr10:5436157G>A uc001ihy.2 - 4 704 c.664C>T c.(664-666)CGT>TGT p.R222C TUBAL3_uc001ihz.2_Missense_Mutation_p.R182C NM_024803 NP_079079 A6NHL2 TBAL3_HUMAN tubulin, alpha-like 3 222 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity skin(1) 1 CCGAGTTTACGATGGCATATA 0.522 NaN 0 0 0 0.001168 0 6 126 STAM 8027 broad.mit.edu 37 10 17750829 17750829 + Missense_Mutation SNP A A T TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr10:17750829A>T uc001ipj.1 + 13 1480 c.1264A>T c.(1264-1266)ATG>TTG p.M422L STAM_uc009xjw.1_Missense_Mutation_p.M80L NM_003473 NP_003464 Q92783 STAM1_HUMAN signal transducing adaptor molecule 1 422 cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway cytosol|early endosome membrane SH3/SH2 adaptor activity large_intestine(1)|ovary(1) 2 GAACGCGCAGATGAGCCACCT 0.527 NaN 0 0 0 0.007835 0 41 103 CUL2 8453 broad.mit.edu 37 10 35351949 35351949 + Missense_Mutation SNP C C G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr10:35351949C>G uc001ixv.2 - 3 371 c.161G>C c.(160-162)GGA>GCA p.G54A CUL2_uc009xma.2_5'UTR|CUL2_uc010qer.1_Missense_Mutation_p.G73A|CUL2_uc001ixw.2_Missense_Mutation_p.G54A|CUL2_uc010qes.1_Missense_Mutation_p.G54A NM_003591 NP_003582 Q13617 CUL2_HUMAN cullin 2 54 cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex ubiquitin protein ligase binding ovary(3) 3 AAGTCTTTCTCCAAGGGGTTC 0.299 NaN 0 0 0 0.003163 0 14 123 BMS1 9790 broad.mit.edu 37 10 43281092 43281092 + Missense_Mutation SNP G G C TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr10:43281092G>C uc001jaj.2 + 3 697 c.339G>C c.(337-339)GAG>GAC p.E113D NM_014753 NP_055568 Q14692 BMS1_HUMAN BMS1-like, ribosome assembly protein 113 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity ovary(2)|upper_aerodigestive_tract(1) 3 AGTTGACTGAGATCAGAGGCC 0.507 NaN 0 0 0 0.00632 0 26 259 PRF1 5551 broad.mit.edu 37 10 72358024 72358024 + Missense_Mutation SNP G G C TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr10:72358024G>C uc009xqg.2 - 3 1614 c.1453C>G c.(1453-1455)CAG>GAG p.Q485E PRF1_uc001jrf.3_Missense_Mutation_p.Q485E NM_001083116 NP_001076585 P14222 PERF_HUMAN perforin 1 precursor 485 C2. apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 CCAGAGTCCTGATCCCAGACC 0.582 NaN M various leukaemia|lymphoma Type 2 familial hemophagocytic lymphohistiocytosis Familial_Hemophagocytic_Lymphohistiocytosis 0 0 0 0.00245 0 15 121 PTEN 5728 broad.mit.edu 37 10 89717615 89717615 + Nonsense_Mutation SNP C C T rs121909227 TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr10:89717615C>T uc001kfb.2 + 8 1671 c.640C>T c.(640-642)CAG>TAG p.Q214* NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 214 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.Q214*(8)|p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.Q214fs*22(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TGCAGATCCTCAGTTTGTGGT 0.388 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 0 0 0 0.00361 0 72 55 ADRA2A 150 broad.mit.edu 37 10 112838906 112838906 + Silent SNP G G A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr10:112838906G>A uc001kzo.2 + 1 2117 c.1152G>A c.(1150-1152)GAG>GAA p.E384E NM_000681 NP_000672 P08913 ADA2A_HUMAN alpha-2A-adrenergic receptor 369 Cytoplasmic (By similarity). actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding 0 Breast(234;0.0735)|Lung NSC(174;0.238) Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118) Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392) AGAACCGCGAGAAGCGCTTCA 0.667 NaN 0 0 0 0.010729 0 11 66 IGSF22 283284 broad.mit.edu 37 11 18737135 18737135 + Missense_Mutation SNP T T A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr11:18737135T>A uc009yht.2 - 11 1565 c.1375A>T c.(1375-1377)ATG>TTG p.M459L IGSF22_uc001mpa.2_RNA NM_173588 NP_775859 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 459 Ig-like 3. ovary(4)|large_intestine(2)|kidney(1) 7 GTGCCATGCATCAGCAGCTGC 0.537 NaN 0 0 0 0.010729 0 12 78 MPPED2 744 broad.mit.edu 37 11 30439147 30439147 + Silent SNP T T C TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr11:30439147T>C uc001msr.2 - 4 690 c.570A>G c.(568-570)CTA>CTG p.L190L MPPED2_uc001msq.3_Silent_p.L190L|MPPED2_uc009yji.2_Silent_p.L64L NM_001584 NP_001575 Q15777 MPPD2_HUMAN metallophosphoesterase domain containing 2 190 nervous system development hydrolase activity|metal ion binding skin(1) 1 GACCTCTGGGTAGGTTAAAGC 0.517 NaN 0 0 0 0.004672 0 3 37 OR5L2 26338 broad.mit.edu 37 11 55595183 55595183 + Silent SNP T T C TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr11:55595183T>C uc001nhy.1 + 1 489 c.489T>C c.(487-489)GCT>GCC p.A163A NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 163 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) CGTCCTTAGCTCTTAGGATCC 0.473 NaN HNSCC(27;0.073) 0 0 0 0.002299 0 23 475 INTS5 80789 broad.mit.edu 37 11 62415419 62415419 + Silent SNP C C T TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr11:62415419C>T uc001nud.2 - 2 2186 c.2133G>A c.(2131-2133)GGG>GGA p.G711G GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank NM_030628 NP_085131 Q6P9B9 INT5_HUMAN integrator complex subunit 5 711 snRNA processing integral to membrane|integrator complex protein binding ovary(2) 2 TCTCATTGTCCCCATCTACTT 0.557 NaN 0 0 0 0.001984 0 7 80 NUDT22 84304 broad.mit.edu 37 11 63996776 63996776 + Missense_Mutation SNP G G A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr11:63996776G>A uc001nyp.3 + 4 817 c.637G>A c.(637-639)GAG>AAG p.E213K NUDT22_uc009ype.2_Missense_Mutation_p.E213K|NUDT22_uc001nyq.3_Missense_Mutation_p.E180K|NUDT22_uc010rng.1_RNA|uc001nyr.1_3'UTR|DNAJC4_uc001nys.2_5'Flank|DNAJC4_uc001nyt.2_5'Flank|DNAJC4_uc001nyu.2_5'Flank NM_032344 NP_115720 Q9BRQ3 NUD22_HUMAN nudix (nucleoside diphosphate linked moiety 213 Nudix hydrolase. hydrolase activity 0 CGCCCGAAATGAGACCAGTGC 0.632 NaN 0 0 0 0.004672 0 3 11 SPDYC 387778 broad.mit.edu 37 11 64939959 64939959 + Silent SNP T T C TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr11:64939959T>C uc010rnz.1 + 5 399 c.399T>C c.(397-399)TTT>TTC p.F133F NM_001008778 NP_001008778 Q5MJ68 SPDYC_HUMAN speedy C 133 Speedy/Ringo box; Required for CDK- binding (By similarity). cell cycle nucleus protein kinase binding 0 GTGAGATTTTTCCATGGGCCC 0.557 NaN 0 0 0 0.00245 0 13 143 LTBP3 4054 broad.mit.edu 37 11 65315511 65315511 + Missense_Mutation SNP C C A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr11:65315511C>A uc001oej.2 - 12 1995 c.1726G>T c.(1726-1728)GAT>TAT p.D576Y LTBP3_uc001oeg.2_5'Flank|LTBP3_uc001oeh.2_Missense_Mutation_p.D6Y|LTBP3_uc010roi.1_Missense_Mutation_p.D459Y|LTBP3_uc001oei.2_Missense_Mutation_p.D576Y|LTBP3_uc010roj.1_Missense_Mutation_p.D277Y|LTBP3_uc010rok.1_Missense_Mutation_p.D487Y NM_001130144 NP_001123616 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding 576 EGF-like 3. extracellular region calcium ion binding|growth factor binding central_nervous_system(2)|lung(1) 3 CGGCACTCATCAGTCTCTGCG 0.637 NaN 1 0 3.59834e-05 0.001168 3.73515e-05 5 80 LTBP3 4054 broad.mit.edu 37 11 65315517 65315517 + Splice_Site SNP C C T TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr11:65315517C>T uc001oej.2 - 12 1990 c.1721_splice c.e12-1 p.E574_splice LTBP3_uc001oeg.2_5'Flank|LTBP3_uc001oeh.2_Missense_Mutation_p.E4K|LTBP3_uc010roi.1_Splice_Site_p.E457_splice|LTBP3_uc001oei.2_Splice_Site_p.E574_splice|LTBP3_uc010roj.1_Splice_Site_p.E275_splice|LTBP3_uc010rok.1_Splice_Site_p.E485_splice NM_001130144 NP_001123616 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding extracellular region calcium ion binding|growth factor binding central_nervous_system(2)|lung(1) 3 TCATCAGTCTCTGCGGGCATG 0.637 NaN 0 0 0 0.001168 0 5 80 SHANK2 22941 broad.mit.edu 37 11 70319061 70319061 + Missense_Mutation SNP C C G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr11:70319061C>G uc001oqc.2 - 22 5541 c.5463G>C c.(5461-5463)CAG>CAC p.Q1821H SHANK2_uc010rqn.1_Missense_Mutation_p.Q1233H|SHANK2_uc001opz.2_Missense_Mutation_p.Q1226H|uc009ysn.1_5'UTR|SHANK2_uc001opy.2_Missense_Mutation_p.Q157H NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 1442 SAM. intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) GGTCCTCCTTCTGCAGGTTTG 0.493 NaN 0 0 0 0.00278 0 21 448 RNF169 254225 broad.mit.edu 37 11 74500681 74500681 + Missense_Mutation SNP C C G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr11:74500681C>G uc001ovl.3 + 2 526 c.513C>G c.(511-513)TTC>TTG p.F171L NM_001098638 NP_001092108 Q8NCN4 RN169_HUMAN ring finger protein 169 171 zinc ion binding ovary(1) 1 ACTTTATATTCAGAGCACCAA 0.343 NaN 0 0 0 0.004007 0 14 228 MTMR2 8898 broad.mit.edu 37 11 95568599 95568599 + Missense_Mutation SNP C C G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr11:95568599C>G uc001pfu.2 - 15 2040 c.1787G>C c.(1786-1788)AGA>ACA p.R596T MTMR2_uc001pfv.2_Missense_Mutation_p.R524T|MTMR2_uc001pfs.2_Missense_Mutation_p.R524T|MTMR2_uc001pft.2_Missense_Mutation_p.R524T NM_016156 NP_057240 Q13614 MTMR2_HUMAN myotubularin-related protein 2 isoform 1 596 nucleus inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity pancreas(1) 1 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TTCTTTGTATCTGTTGTGAAT 0.408 NaN 0 0 0 0.006214 0 9 128 TECTA 7007 broad.mit.edu 37 11 120996394 120996394 + Missense_Mutation SNP G G C TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr11:120996394G>C uc010rzo.1 + 7 1587 c.1587G>C c.(1585-1587)AAG>AAC p.K529N NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 529 VWFD 1. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) TCCTCAACAAGACAGACGGCC 0.597 NaN 0 0 0 0.002836 0 29 189 SNX19 399979 broad.mit.edu 37 11 130785020 130785020 + Missense_Mutation SNP C C G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr11:130785020C>G uc001qgk.3 - 1 1363 c.815G>C c.(814-816)AGA>ACA p.R272T SNX19_uc010sce.1_Intron|SNX19_uc010scf.1_Intron|SNX19_uc010scg.1_Intron|SNX19_uc001qgl.3_Missense_Mutation_p.R272T|SNX19_uc009zcx.1_Intron NM_014758 NP_055573 Q92543 SNX19_HUMAN sorting nexin 19 272 PXA. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding ovary(2)|lung(2) 4 all_hematologic(175;0.0597) Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233) TGCTGGATCTCTGGCCTTGGA 0.547 NaN 0 0 0 0.010504 0 20 118 KCNA5 3741 broad.mit.edu 37 12 5153719 5153719 + Missense_Mutation SNP G G A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr12:5153719G>A uc001qni.2 + 1 635 c.406G>A c.(406-408)GGC>AGC p.G136S NM_002234 NP_002225 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related 136 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(2)|breast(2) 4 GACGCAGCTGGGCACCCTGGC 0.677 NaN 0 0 0 0.001855 0 14 66 VWF 7450 broad.mit.edu 37 12 6078463 6078463 + Missense_Mutation SNP G G C TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr12:6078463G>C uc001qnn.1 - 45 7893 c.7643C>G c.(7642-7644)TCC>TGC p.S2548C VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 2548 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) CTGGGGGCAGGAGACGTTCCT 0.607 NaN 0 0 0 0.001168 0 6 84 CD163 9332 broad.mit.edu 37 12 7635996 7635996 + Missense_Mutation SNP C C T TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr12:7635996C>T uc001qsz.3 - 12 3183 c.3055G>A c.(3055-3057)GGG>AGG p.G1019R CD163_uc001qta.3_Missense_Mutation_p.G1019R|CD163_uc009zfw.2_Missense_Mutation_p.G1052R NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 1019 SRCR 9.|Extracellular (Potential). acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 TCCTTGTGCCCACACTCACTA 0.537 NaN 0 0 0 0.00308 0 7 56 SLCO1A2 6579 broad.mit.edu 37 12 21427510 21427510 + Silent SNP A A C TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr12:21427510A>C uc001rer.2 - 13 1937 c.1686T>G c.(1684-1686)CCT>CCG p.P562P SLCO1A2_uc001res.2_Silent_p.P562P|SLCO1A2_uc010siq.1_Silent_p.P430P|SLCO1A2_uc010sio.1_Silent_p.P430P|SLCO1A2_uc010sip.1_Silent_p.P430P NM_021094 NP_066580 P46721 SO1A2_HUMAN organic anion transporting polypeptide A 562 Helical; Name=11; (Potential). bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(1)|pancreas(1)|ovary(1)|skin(1) 4 ATATAGGTGCAGGAATGCCAG 0.363 NaN 0 0 0 0.006122 0 15 140 SYT10 341359 broad.mit.edu 37 12 33579134 33579134 + Missense_Mutation SNP C C G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr12:33579134C>G uc001rll.1 - 2 745 c.448G>C c.(448-450)GAA>CAA p.E150Q SYT10_uc009zju.1_5'UTR NM_198992 NP_945343 Q6XYQ8 SYT10_HUMAN synaptotagmin X 150 Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(1)|skin(1) 2 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) ATTAAATGTTCTTTTAAAGCA 0.363 NaN 0 0 0 0.003755 0 34 317 AMIGO2 347902 broad.mit.edu 37 12 47471606 47471606 + Missense_Mutation SNP C C G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr12:47471606C>G uc001rpm.2 - 3 1835 c.1180G>C c.(1180-1182)GAG>CAG p.E394Q FAM113B_uc001rpn.2_5'Flank|AMIGO2_uc001rpk.2_Missense_Mutation_p.E394Q|AMIGO2_uc001rpl.2_Missense_Mutation_p.E394Q NM_001143668 NP_001137140 Q86SJ2 AMGO2_HUMAN adhesion molecule with Ig-like domain 2 394 Extracellular (Potential). heterophilic cell-cell adhesion|homophilic cell adhesion integral to membrane|nucleus|plasma membrane ovary(1)|skin(1) 2 Renal(347;0.138)|Lung SC(27;0.192) TTAAATGCCTCATGAGCATGG 0.428 NaN 0 0 0 0.010729 0 12 63 FMNL3 91010 broad.mit.edu 37 12 50044479 50044479 + Silent SNP C C T rs118114169 by1000genomes TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr12:50044479C>T uc001ruv.1 - 17 2214 c.1980G>A c.(1978-1980)GAG>GAA p.E660E FMNL3_uc001ruw.1_Silent_p.E609E|FMNL3_uc001rut.1_Silent_p.E226E|FMNL3_uc001ruu.1_Silent_p.E510E NM_175736 NP_783863 Q8IVF7 FMNL3_HUMAN formin-like 3 isoform 1 660 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding breast(2)|pancreas(2) 4 CCCTGCAGATCTCCTCAGCCG 0.592 NaN 0 0 0 0.000602 0 5 97 SBNO1 55206 broad.mit.edu 37 12 123815804 123815804 + Missense_Mutation SNP C C G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr12:123815804C>G uc010tap.1 - 7 1028 c.1028G>C c.(1027-1029)AGA>ACA p.R343T SBNO1_uc010tao.1_Missense_Mutation_p.R342T|SBNO1_uc010taq.1_Intron|SBNO1_uc001uet.2_Missense_Mutation_p.R343T|SBNO1_uc001ueu.2_Missense_Mutation_p.R342T|SBNO1_uc001uev.2_Missense_Mutation_p.R341T|SBNO1_uc009zxy.1_Missense_Mutation_p.R308T NM_018183 NP_060653 A3KN83 SBNO1_HUMAN sno, strawberry notch homolog 1 343 ATP binding|DNA binding|hydrolase activity breast(5)|skin(2)|ovary(1)|kidney(1) 9 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) TGCTCGTTTTCTACTCAACAA 0.289 NaN 0 0 0 0.00308 0 6 127 SACS 26278 broad.mit.edu 37 13 23913766 23913766 + Missense_Mutation SNP C C T TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr13:23913766C>T uc001uon.2 - 10 4838 c.4249G>A c.(4249-4251)GAA>AAA p.E1417K SACS_uc001uoo.2_Missense_Mutation_p.E1270K|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 1417 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) ATGATTGGTTCCACAGAATCT 0.368 NaN 0 0 0 0.004007 0 16 107 NAA16 79612 broad.mit.edu 37 13 41946363 41946363 + Missense_Mutation SNP G G A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr13:41946363G>A uc001uyf.2 + 16 2296 c.1972G>A c.(1972-1974)GTT>ATT p.V658I NAA16_uc010tfg.1_Intron NM_024561 NP_078837 Q6N069 NAA16_HUMAN NMDA receptor regulated 1-like protein isoform 658 N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent cytoplasm|transcription factor complex binding central_nervous_system(1) 1 AGAGGAAGCCGTTAAGTTCCT 0.279 NaN 0 0 0 0.00361 0 62 34 LRP10 26020 broad.mit.edu 37 14 23344898 23344898 + Silent SNP G G A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr14:23344898G>A uc001whd.2 + 5 1294 c.741G>A c.(739-741)GTG>GTA p.V247V LRP10_uc001whe.2_Silent_p.V123V NM_014045 NP_054764 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 247 CUB 2.|Extracellular (Potential). endocytosis coated pit|integral to membrane central_nervous_system(1) 1 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) GAGATGCAGTGCATGTGTATG 0.627 NaN 0 0 0 0.010729 0 11 80 ACIN1 22985 broad.mit.edu 37 14 23548778 23548778 + Missense_Mutation SNP G G A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr14:23548778G>A uc001wit.3 - 6 2268 c.1940C>T c.(1939-1941)TCA>TTA p.S647L ACIN1_uc001wis.3_Missense_Mutation_p.S329L|ACIN1_uc010akg.2_Missense_Mutation_p.S647L|ACIN1_uc010tnj.1_Missense_Mutation_p.S607L NM_014977 NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 647 Ser-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding ovary(2)|large_intestine(1)|skin(1) 4 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) GCTTGATGCTGAACGAGAACG 0.498 NaN 0 0 0 0.00361 0 54 582 NYNRIN 57523 broad.mit.edu 37 14 24878129 24878129 + Silent SNP C C T TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr14:24878129C>T uc001wpf.3 + 4 1447 c.1129C>T c.(1129-1131)CTA>TTA p.L377L NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN hypothetical protein LOC57523 377 DNA integration integral to membrane DNA binding ovary(2)|central_nervous_system(1) 3 GCTGCATTCTCTACATCTGGC 0.602 NaN 0 0 0 0.008291 0 11 27 FANCM 57697 broad.mit.edu 37 14 45658163 45658163 + Silent SNP A A C TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr14:45658163A>C uc001wwd.3 + 20 5037 c.4938A>C c.(4936-4938)GCA>GCC p.A1646A FANCM_uc010anf.2_Silent_p.A1620A|FANCM_uc001wwe.3_Silent_p.A1182A|FANCM_uc010ang.2_Silent_p.A860A NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 1646 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding ovary(3)|lung(2)|breast(2) 7 CTCGACGTGCAGTAATGCTAA 0.318 NaN Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 0.008871 0 19 82 PSMC6 5706 broad.mit.edu 37 14 53190725 53190725 + Missense_Mutation SNP C C G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr14:53190725C>G uc010tqx.1 + 13 1064 c.1064C>G c.(1063-1065)GCA>GGA p.A355G PSMC6_uc001wzy.2_RNA NM_002806 NP_002797 P62333 PRS10_HUMAN proteasome 26S ATPase subunit 6 341 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|ATPase activity|protein binding, bridging lung(1) 1 Breast(41;0.176) TTTAATGGAGCAGATCTGAGA 0.279 NaN 0 0 0 0.001984 0 7 97 RTN1 6252 broad.mit.edu 37 14 60193839 60193839 + Silent SNP G G T TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr14:60193839G>T uc001xen.1 - 3 1772 c.1563C>A c.(1561-1563)TCC>TCA p.S521S RTN1_uc001xem.1_Silent_p.S101S NM_021136 NP_066959 Q16799 RTN1_HUMAN reticulon 1 isoform A 521 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity ovary(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(108;0.0968) AGTCGAGGAAGGAACCCGGCT 0.721 NaN 1 0 0.004672 0.004672 0.00475916 3 8 COX16 51241 broad.mit.edu 37 14 70793096 70793096 + Missense_Mutation SNP A A C rs139121123 TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr14:70793096A>C uc001xmb.2 - 4 415 c.275T>G c.(274-276)CTC>CGC p.L92R NM_016468 NP_057552 Q9P0S2 COX16_HUMAN COX16 cytochrome c oxidase assembly homolog 92 integral to membrane|mitochondrial membrane 0 TCCTTGGAGGAGGTCAGGATC 0.328 NaN 0 0 0 0.009096 0 4 45 NRXN3 9369 broad.mit.edu 37 14 79432421 79432421 + Missense_Mutation SNP A A G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr14:79432421A>G uc001xun.2 + 9 1821 c.1330A>G c.(1330-1332)ATC>GTC p.I444V NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.I569V NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 817 Laminin G-like 4.|Extracellular (Potential). axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) TGAAACGGGAATCATGACTGA 0.433 NaN 0 0 0 0.00361 0 53 37 FLRT2 23768 broad.mit.edu 37 14 86088385 86088385 + Missense_Mutation SNP T T C TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr14:86088385T>C uc001xvr.2 + 2 1294 c.527T>C c.(526-528)GTT>GCT p.V176A FLRT2_uc010atd.2_Missense_Mutation_p.V176A NM_013231 NP_037363 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 176 Extracellular (Potential).|LRR 5. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity ovary(3)|haematopoietic_and_lymphoid_tissue(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.0319) AGTGTGCCTGTTGGGCTTCCT 0.502 NaN 0 0 0 0.013114 0 48 58 WDR20 91833 broad.mit.edu 37 14 102675837 102675837 + Missense_Mutation SNP G G T rs12888595 byFrequency TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr14:102675837G>T uc001ykz.2 + 3 1379 c.1330G>T c.(1330-1332)GGC>TGC p.G444C WDR20_uc001yky.1_Missense_Mutation_p.G187C|WDR20_uc001yla.2_Missense_Mutation_p.G320C|WDR20_uc001ylb.2_Missense_Mutation_p.G383C|WDR20_uc010txu.1_Missense_Mutation_p.G475C|WDR20_uc001ylc.2_Intron|WDR20_uc001yld.2_Missense_Mutation_p.G444C|WDR20_uc001yle.2_Missense_Mutation_p.G383C|WDR20_uc001ylf.2_Missense_Mutation_p.G456C NM_144574 NP_653175 Q8TBZ3 WDR20_HUMAN WD repeat domain 20 isoform 2 444 0 CTCAAATGCTGGCAGCAAAAG 0.537 NaN OREG0022939 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 3.59834e-05 0.001168 3.73515e-05 6 104 AHNAK2 113146 broad.mit.edu 37 14 105408168 105408168 + Silent SNP G G A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr14:105408168G>A uc010axc.1 - 7 13740 c.13620C>T c.(13618-13620)GCC>GCT p.A4540A AHNAK2_uc001ypx.2_Silent_p.A4440A NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4540 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CTTTGAGGCCGGCTACCTCGG 0.632 NaN 0 0 0 0.00361 0 53 174 APBA2 321 broad.mit.edu 37 15 29346684 29346684 + Silent SNP G G A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr15:29346684G>A uc001zck.2 + 3 804 c.597G>A c.(595-597)GAG>GAA p.E199E APBA2_uc010azj.2_Silent_p.E199E|APBA2_uc010uat.1_Silent_p.E199E|APBA2_uc001zcl.2_Silent_p.E199E|APBA2_uc010uas.1_Silent_p.E199E NM_005503 NP_005494 Q99767 APBA2_HUMAN amyloid beta A4 precursor protein-binding, 199 STXBP1-binding. DEPSVLEAHDQEEDGHYCASKEGYQDYYPEEANGNTGASPY RLRR -> MSPPSLRPMTRKKMVTMCQQRGLPGLLPRGGQR EHRRLPLPPEA (in Ref. 1; AAC39767). nervous system development|protein transport protein binding 0 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) ACTACCCCGAGGAGGCCAACG 0.627 NaN 0 0 0 0.001168 0 6 23 CASC5 57082 broad.mit.edu 37 15 40916744 40916744 + Missense_Mutation SNP G G C TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr15:40916744G>C uc010bbs.1 + 11 4521 c.4360G>C c.(4360-4362)GAT>CAT p.D1454H CASC5_uc010ucq.1_Missense_Mutation_p.D1278H|CASC5_uc001zme.2_Missense_Mutation_p.D1428H|CASC5_uc010bbt.1_Missense_Mutation_p.D1428H NM_170589 NP_733468 Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 isoform 1 1454 acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding breast(3)|central_nervous_system(1)|skin(1) 5 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) GCTTCCAAAGGATCAAATGAA 0.358 NaN 0 0 0 0.004482 0 7 144 RAD51 5888 broad.mit.edu 37 15 41020994 41020994 + Missense_Mutation SNP C C G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr15:41020994C>G uc001zmi.3 + 7 915 c.616C>G c.(616-618)CAA>GAA p.Q206E RAD51_uc010bbw.2_Missense_Mutation_p.Q206E|RAD51_uc010bbx.2_Missense_Mutation_p.Q207E|RAD51_uc001zmk.3_RNA|RAD51_uc001zml.3_Missense_Mutation_p.Q207E NM_002875 NP_002866 Q06609 RAD51_HUMAN RAD51 homolog protein isoform 1 206 Interaction with PALB2. DNA recombinase assembly|DNA unwinding involved in replication|mitotic recombination|positive regulation of DNA ligation|protein homooligomerization|reciprocal meiotic recombination mitochondrial matrix|nucleus|perinuclear region of cytoplasm|PML body ATP binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|protein C-terminus binding|single-stranded DNA binding|single-stranded DNA-dependent ATPase activity 0 all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163) GCTCCTTTATCAAGCATCAGC 0.443 NaN Homologous_recombination 0 0 0 0.004878 0 34 199 MGA 23269 broad.mit.edu 37 15 42054514 42054514 + Silent SNP G G A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr15:42054514G>A uc010ucy.1 + 22 7879 c.7698G>A c.(7696-7698)AGG>AGA p.R2566R MGA_uc010ucz.1_Silent_p.R2357R|MGA_uc010uda.1_Silent_p.R1182R NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 1 2527 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 12 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) TAAATAACAGGAGGGGGAAAC 0.403 NaN 0 0 0 0.00245 0 15 64 AQP9 366 broad.mit.edu 37 15 58465375 58465375 + Missense_Mutation SNP G G A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr15:58465375G>A uc002aez.2 + 3 704 c.347G>A c.(346-348)GGG>GAG p.G116E ALDH1A2_uc010ugw.1_Intron|AQP9_uc010ugx.1_Missense_Mutation_p.G51E NM_020980 NP_066190 O43315 AQP9_HUMAN aquaporin 9 116 Helical; (Potential). cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis integral to plasma membrane|intracellular membrane-bounded organelle amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity ovary(1) 1 GBM - Glioblastoma multiforme(80;0.16) GCCTTTGTGGGGGCTGCAACC 0.453 NaN 0 0 0 0.002836 0 34 158 ZNF609 23060 broad.mit.edu 37 15 64968122 64968122 + Silent SNP G G A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr15:64968122G>A uc002ann.2 + 4 3069 c.3069G>A c.(3067-3069)AAG>AAA p.K1023K NM_015042 NP_055857 O15014 ZN609_HUMAN zinc finger protein 609 1023 nucleus zinc ion binding upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 GAGTGGACAAGAAGGCAGAGA 0.577 NaN 0 0 0 0.002299 0 24 132 SCAPER 49855 broad.mit.edu 37 15 76995194 76995194 + Silent SNP G G A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr15:76995194G>A uc002bby.2 - 18 2456 c.2397C>T c.(2395-2397)GTC>GTT p.V799V SCAPER_uc010bkr.2_Silent_p.V107V|SCAPER_uc002bbx.2_Silent_p.V553V|SCAPER_uc002bbz.1_Silent_p.V670V|SCAPER_uc002bca.1_Silent_p.V664V|SCAPER_uc002bcb.1_Silent_p.V805V NM_020843 NP_065894 Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 798 C2H2-type. endoplasmic reticulum|nucleus zinc ion binding large_intestine(1)|lung(1)|ovary(1) 3 AACCTACCAGGACATTGCAGA 0.368 NaN 0 0 0 0.001168 0 6 131 IREB2 3658 broad.mit.edu 37 15 78790483 78790483 + Nonstop_Mutation SNP T T C TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr15:78790483T>C uc002bdr.2 + 22 3052 c.2890T>C c.(2890-2892)TAG>CAG p.*964Q IREB2_uc010unb.1_Nonstop_Mutation_p.*714Q NM_004136 NP_004127 P48200 IREB2_HUMAN iron-responsive element binding protein 2 964 4 iron, 4 sulfur cluster binding|metal ion binding|protein binding 0 UCEC - Uterine corpus endometrioid carcinoma (272;0.232) AAAATTCTCATAGTATCTACT 0.388 NaN 0 0 0 0.006214 0 10 66 NTRK3 4916 broad.mit.edu 37 15 88670429 88670429 + Silent SNP G G A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr15:88670429G>A uc002bme.1 - 11 1419 c.1257C>T c.(1255-1257)ATC>ATT p.I419I NTRK3_uc002bmh.2_Silent_p.I411I|NTRK3_uc002bmf.1_Silent_p.I419I|NTRK3_uc010upl.1_Silent_p.I321I|NTRK3_uc010bnh.1_Silent_p.I411I|NTRK3_uc002bmg.2_Silent_p.I419I NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 419 Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(234) soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1) 281 BRCA - Breast invasive adenocarcinoma(143;0.211) GGGTCACAGTGATAGGAGGTG 0.498 NaN T ETV6 congenital fibrosarcoma|Secretory breast TSP Lung(13;0.10) 0 0 0 0.001168 0 4 28 TMEM8A 58986 broad.mit.edu 37 16 427570 427570 + Silent SNP G G A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr16:427570G>A uc002cgu.3 - 3 444 c.315C>T c.(313-315)GGC>GGT p.G105G TMEM8A_uc002cgv.3_5'UTR NM_021259 NP_067082 Q9HCN3 TMM8A_HUMAN transmembrane protein 8 (five membrane-spanning 105 Extracellular (Potential). cell adhesion integral to plasma membrane central_nervous_system(2)|pancreas(1) 3 CCGGAGGGGCGCCGGAACGGA 0.711 NaN 0 0 0 0.009096 0 4 5 MMP2 4313 broad.mit.edu 37 16 55539318 55539318 + Missense_Mutation SNP G G T TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr16:55539318G>T uc002ehz.3 + 13 2258 c.1947G>T c.(1945-1947)AAG>AAT p.K649N MMP2_uc010vhd.1_Missense_Mutation_p.K573N|MMP2_uc010ccc.2_Missense_Mutation_p.K599N|MMP2_uc002eia.3_Missense_Mutation_p.K146N NM_004530 NP_004521 P08253 MMP2_HUMAN matrix metalloproteinase 2 isoform a 649 Required for inhibitor TIMP2 binding.|Hemopexin-like 4. angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 11 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) AGAGCGTGAAGTTTGGAAGCA 0.552 NaN 1 0 3.5997e-14 0.002299 4.02753e-14 21 165 ADAMTS18 170692 broad.mit.edu 37 16 77465452 77465452 + Missense_Mutation SNP C C G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr16:77465452C>G uc002ffc.3 - 3 654 c.235G>C c.(235-237)GAC>CAC p.D79H ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_RNA NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 79 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 TGCAAAATGTCGTGTGAAATA 0.488 NaN 0 0 0 0.00361 0 125 303 ATMIN 23300 broad.mit.edu 37 16 81077964 81077964 + Missense_Mutation SNP G G C TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr16:81077964G>C uc002ffz.1 + 4 1879 c.1861G>C c.(1861-1863)GAC>CAC p.D621H ATMIN_uc002fga.2_Missense_Mutation_p.D463H|ATMIN_uc010vnn.1_Missense_Mutation_p.D392H|ATMIN_uc002fgb.1_Missense_Mutation_p.D463H NM_015251 NP_056066 O43313 ATMIN_HUMAN ATM interactor 621 response to DNA damage stimulus nucleus zinc ion binding 0 TCCTGGACCTGACACCCAGCT 0.443 NaN 0 0 0 0.001168 0 4 59 TRPV3 162514 broad.mit.edu 37 17 3438937 3438937 + Silent SNP G G A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr17:3438937G>A uc002fvt.1 - 7 1036 c.714C>T c.(712-714)GGC>GGT p.G238G TRPV3_uc002fvs.1_RNA|TRPV3_uc010vrh.1_Silent_p.G222G|TRPV3_uc010vri.1_Silent_p.G193G|TRPV3_uc010vrj.1_Silent_p.G222G|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_Silent_p.G222G|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_Silent_p.G238G|TRPV3_uc002fvu.2_Silent_p.G238G NM_145068 NP_659505 Q8NET8 TRPV3_HUMAN transient receptor potential cation channel, 238 Cytoplasmic (Potential).|ANK 1. integral to membrane calcium channel activity ovary(4) 4 Menthol(DB00825) TGACGTCGGCGCCGGCGGCGA 0.721 NaN 0 0 0 0.001168 0 5 21 KIAA0100 9703 broad.mit.edu 37 17 26962026 26962026 + Missense_Mutation SNP G G A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr17:26962026G>A uc002hbu.2 - 16 2678 c.2579C>T c.(2578-2580)TCT>TTT p.S860F NM_014680 NP_055495 Q14667 K0100_HUMAN hypothetical protein LOC9703 precursor 860 extracellular region ovary(2)|breast(1)|skin(1) 4 Lung NSC(42;0.00431) AGGGCTTGGAGAGGCCCAAGC 0.468 NaN 0 0 0 0.00361 0 127 289 NF1 4763 broad.mit.edu 37 17 29554622 29554622 + Missense_Mutation SNP C C G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 C G C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr17:29554622C>G uc002hgg.2 + 20 2740 c.2407C>G c.(2407-2409)CAG>GAG p.Q803E NF1_uc002hgh.2_Missense_Mutation_p.Q803E|NF1_uc010csn.1_Missense_Mutation_p.Q663E|NF1_uc002hgi.1_5'UTR NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 803 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.?(2) soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) GGAAGATGGCCAGGTAAGTCT 0.353 NaN D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 0 0 0 0.001168 0 6 107 NF1 4763 broad.mit.edu 37 17 29664524 29664524 + Missense_Mutation SNP C C G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 C G C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr17:29664524C>G uc002hgg.2 + 43 6899 c.6566C>G c.(6565-6567)CCT>CGT p.P2189R NF1_uc002hgh.2_Missense_Mutation_p.P2168R|NF1_uc010cso.2_Missense_Mutation_p.P377R|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 2189 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TCATTCTCTCCTGGCTCCTAT 0.433 NaN D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 0 0 0 0.00499 0 17 197 TAF15 8148 broad.mit.edu 37 17 34149829 34149829 + Missense_Mutation SNP A A G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr17:34149829A>G uc002hkd.2 + 6 562 c.476A>G c.(475-477)CAC>CGC p.H159R TAF15_uc010ctw.1_RNA|TAF15_uc002hkc.2_Missense_Mutation_p.H156R NM_139215 NP_631961 Q92804 RBP56_HUMAN TBP-associated factor 15 isoform 1 159 Gln/Gly/Ser/Tyr-rich. positive regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding TAF15/NR4A3(33) bone(33)|lung(1)|skin(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) TACAGCCACCACACACAAGGT 0.378 NaN T TEC|CHN1|ZNF384 extraskeletal myxoid chondrosarcomas|ALL 0 0 0 0.00245 0 12 160 ACACA 31 broad.mit.edu 37 17 35486362 35486362 + Missense_Mutation SNP C C G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr17:35486362C>G uc002hnm.2 - 47 5953 c.5762G>C c.(5761-5763)AGA>ACA p.R1921T ACACA_uc002hnk.2_Missense_Mutation_p.R1843T|ACACA_uc002hnl.2_Missense_Mutation_p.R1863T|ACACA_uc002hnn.2_Missense_Mutation_p.R1921T|ACACA_uc002hno.2_Missense_Mutation_p.R1958T|ACACA_uc010cuy.2_Missense_Mutation_p.R566T|ACACA_uc010wdc.1_Missense_Mutation_p.R47T NM_198836 NP_942133 Q13085 ACACA_HUMAN acetyl-Coenzyme A carboxylase alpha isoform 2 1921 Carboxyltransferase. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding large_intestine(1)|ovary(1) 2 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) CTCGATGATTCTGTCTATAGG 0.478 NaN 0 0 0 0.001984 0 7 67 MLLT6 4302 broad.mit.edu 37 17 36876912 36876912 + Missense_Mutation SNP C C G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr17:36876912C>G uc002hqi.3 + 16 2367 c.2354C>G c.(2353-2355)GCC>GGC p.A785G MLLT6_uc002hqj.2_Missense_Mutation_p.A220G|MLLT6_uc002hqk.3_Missense_Mutation_p.A116G NM_005937 NP_005928 P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia 785 regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding breast(3)|prostate(1)|lung(1)|skin(1) 6 Breast(7;4.43e-21) CCTCCCACAGCCGGCAGCAGC 0.667 NaN T MLL AL 0 0 0 0.00308 0 7 111 CCR7 1236 broad.mit.edu 37 17 38711197 38711197 + Missense_Mutation SNP A A G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr17:38711197A>G uc002huw.2 - 3 997 c.934T>C c.(934-936)TAC>CAC p.Y312H NM_001838 NP_001829 P32248 CCR7_HUMAN chemokine (C-C motif) receptor 7 precursor 312 Extracellular (Potential). cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation integral to membrane|intracellular C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding breast(1) 1 Breast(137;0.000496) GCCAGGCTGTAGGTGACGTCG 0.567 NaN 0 0 0 0.00245 0 13 122 SMARCE1 6605 broad.mit.edu 37 17 38788611 38788611 + Missense_Mutation SNP C C T TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr17:38788611C>T uc002hux.2 - 8 674 c.550G>A c.(550-552)GAT>AAT p.D184N SMARCE1_uc010wff.1_Missense_Mutation_p.D149N|SMARCE1_uc010wfg.1_Missense_Mutation_p.D114N|SMARCE1_uc002huy.2_Missense_Mutation_p.D149N|SMARCE1_uc010wfh.1_Missense_Mutation_p.D114N|SMARCE1_uc010wfi.1_Missense_Mutation_p.D166N NM_003079 NP_003070 Q969G3 SMCE1_HUMAN SWI/SNF-related matrix-associated 184 chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity 0 Breast(137;0.000812) GAAAAGCCATCATCATAATCT 0.433 NaN 0 0 0 0.004878 0 35 67 TMEM99 147184 broad.mit.edu 37 17 38991162 38991162 + Missense_Mutation SNP C C G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr17:38991162C>G uc002hvj.1 + 3 701 c.394C>G c.(394-396)CAC>GAC p.H132D NM_145274 NP_660317 Q8N816 TMM99_HUMAN transmembrane protein 99 precursor 132 integral to membrane skin(1) 1 Breast(137;0.000301) TCAAGGGTCTCACGTTGCAGC 0.512 NaN 0 0 0 0.003163 0 16 269 KRTAP4-11 653240 broad.mit.edu 37 17 39274518 39274518 + Missense_Mutation SNP C C T rs9897031 by1000genomes TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr17:39274518C>T uc002hvz.2 - 1 89 c.50G>A c.(49-51)CGA>CAA p.R17Q NM_033059 NP_149048 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 17 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. R -> Q (in Ref. 1; CAC27583 and 3; AAI26132/AAI30563). keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCAGAGGTCTCGGCCACAGCC 0.592 NaN 0 0 0 0.001168 0 5 69 CDC27 996 broad.mit.edu 37 17 45214642 45214642 + Missense_Mutation SNP C C G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr17:45214642C>G uc002ild.3 - 14 1916 c.1789G>C c.(1789-1791)GAT>CAT p.D597H CDC27_uc002ile.3_Missense_Mutation_p.D603H|CDC27_uc002ilf.3_Missense_Mutation_p.D596H|CDC27_uc010wkp.1_Missense_Mutation_p.D536H|CDC27_uc010wkq.1_Intron NM_001256 NP_001247 P30260 CDC27_HUMAN cell division cycle protein 27 isoform 2 597 TPR 4. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding lung(2)|breast(2)|ovary(1) 5 TAATTTGGATCAACTTGGATA 0.393 NaN 0 0 0 0.00308 0 7 64 USP32 84669 broad.mit.edu 37 17 58372085 58372085 + Missense_Mutation SNP C C T TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr17:58372085C>T uc002iyo.1 - 4 656 c.370G>A c.(370-372)GAT>AAT p.D124N USP32_uc010wov.1_Missense_Mutation_p.D124N NM_032582 NP_115971 Q8NFA0 UBP32_HUMAN ubiquitin specific protease 32 124 EF-hand 1. protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|breast(2)|large_intestine(1) 5 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) ACTTTACCATCCACCACGTGG 0.338 NaN 0 0 0 0.001368 0 12 100 EFCAB3 146779 broad.mit.edu 37 17 60493466 60493466 + Missense_Mutation SNP G G C TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr17:60493466G>C uc002izu.1 + 10 1171 c.1093G>C c.(1093-1095)GAC>CAC p.D365H EFCAB3_uc010wpc.1_Missense_Mutation_p.D417H NM_173503 NP_775774 Q8N7B9 EFCB3_HUMAN EF-hand calcium binding domain 3 isoform b 365 calcium ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(2;2.27e-11) GATTGGGATGGACTCTAGAAA 0.398 NaN 0 0 0 0.006122 0 17 120 RECQL5 9400 broad.mit.edu 37 17 73625043 73625043 + Missense_Mutation SNP C C A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr17:73625043C>A uc010dgl.2 - 16 2616 c.2460G>T c.(2458-2460)CAG>CAT p.Q820H RECQL5_uc010dgk.2_Missense_Mutation_p.Q793H|RECQL5_uc002jot.3_5'Flank NM_004259 NP_004250 O94762 RECQ5_HUMAN RecQ protein-like 5 isoform 1 820 DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding kidney(3) 3 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) ACTCCTCAGTCTGGGGAGGGG 0.617 NaN Other_identified_genes_with_known_or_suspected_DNA_repair_function 1 0 2.17888e-05 0.006214 2.27906e-05 8 89 PGS1 9489 broad.mit.edu 37 17 76411074 76411074 + Missense_Mutation SNP C C G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr17:76411074C>G uc002jvm.2 + 8 1529 c.1517C>G c.(1516-1518)ACG>AGG p.T506R PGS1_uc010wtt.1_RNA|PGS1_uc010dho.2_RNA|PGS1_uc002jvn.2_Missense_Mutation_p.T219R|PGS1_uc002jvo.2_RNA|PGS1_uc002jvp.1_Missense_Mutation_p.T219R NM_024419 NP_077733 Q32NB8 PGPS1_HUMAN phosphatidylglycerophosphate synthase 1 506 phospholipid biosynthetic process endoplasmic reticulum|mitochondrion ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity 0 BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031) GCGATCGTGACGGAGAACCAG 0.632 NaN 0 0 0 0.006214 0 9 70 ASXL3 80816 broad.mit.edu 37 18 31326430 31326430 + Silent SNP A A T TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr18:31326430A>T uc010dmg.1 + 12 6673 c.6618A>T c.(6616-6618)GCA>GCT p.A2206A ASXL3_uc002kxq.2_Silent_p.A1913A NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 2206 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 GCAGCAATGCAGATGAATTGG 0.517 NaN 0 0 0 0.001168 0 5 77 SYT4 6860 broad.mit.edu 37 18 40851688 40851688 + Missense_Mutation SNP G G C TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr18:40851688G>C uc002law.2 - 3 1328 c.959C>G c.(958-960)TCC>TGC p.S320C SYT4_uc010dng.2_RNA|SYT4_uc010xcm.1_Missense_Mutation_p.S302C|SYT4_uc010dnh.2_Intron NM_020783 NP_065834 Q9H2B2 SYT4_HUMAN synaptotagmin IV 320 C2 2.|Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane transporter activity skin(5) 5 TGAAAGTCCGGACACATCAGA 0.423 NaN 0 0 0 0.003163 0 13 99 HMHA1 23526 broad.mit.edu 37 19 1080305 1080305 + Silent SNP G G A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr19:1080305G>A uc002lqz.1 + 14 1986 c.1755G>A c.(1753-1755)GCG>GCA p.A585A HMHA1_uc010xgd.1_Silent_p.A601A|HMHA1_uc010xge.1_Silent_p.A425A|HMHA1_uc002lra.1_Silent_p.A425A|HMHA1_uc002lrb.1_Silent_p.A468A|HMHA1_uc002lrc.1_Silent_p.A220A|HMHA1_uc002lrd.1_5'Flank|HMHA1_uc010dsd.1_5'Flank NM_012292 NP_036424 Q92619 HMHA1_HUMAN minor histocompatibility antigen HA-1 585 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding lung(1) 1 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTGATGTGGCGCGGCCGGAGG 0.677 NaN 0 0 0 0.007291 0 29 111 REXO1 57455 broad.mit.edu 37 19 1817224 1817224 + Silent SNP G G A rs141798167 TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr19:1817224G>A uc002lua.3 - 12 3290 c.3195C>T c.(3193-3195)TGC>TGT p.C1065C REXO1_uc010dsq.2_Silent_p.C374C|REXO1_uc010xgs.1_Silent_p.C51C|MIR1909_hsa-mir-1909|MI0008330_5'Flank|REXO1_uc010dsp.1_RNA NM_020695 NP_065746 Q8N1G1 REXO1_HUMAN transcription elongation factor B polypeptide 3 1065 Exonuclease. nucleus exonuclease activity|nucleic acid binding 0 Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCACCATCTCGCAGTCCAGGG 0.647 NaN 0 0 0 0.005443 0 21 35 SLC39A3 29985 broad.mit.edu 37 19 2733469 2733469 + Silent SNP C C G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr19:2733469C>G uc002lwg.2 - 3 479 c.225G>C c.(223-225)CTG>CTC p.L75L SLC39A3_uc010xgy.1_Silent_p.L75L NM_144564 NP_653165 Q9BRY0 S39A3_HUMAN solute carrier family 39 (zinc transporter), 75 Extracellular (Potential). integral to membrane|plasma membrane zinc ion transmembrane transporter activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGCCGAGGCTCAGGACCTTCT 0.632 NaN 0 0 0 0.00308 0 7 84 DOCK6 57572 broad.mit.edu 37 19 11313296 11313296 + Silent SNP C C T TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr19:11313296C>T uc002mqs.3 - 42 5366 c.5325G>A c.(5323-5325)TCG>TCA p.S1775S DOCK6_uc002mqr.3_Silent_p.S175S|DOCK6_uc010xlq.1_Silent_p.S1114S NM_020812 NP_065863 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 1775 DHR-2. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(2)|skin(1) 3 GCTTCGTGATCGATGGCTCCT 0.632 NaN 0 0 0 0.00278 0 19 251 RGL3 57139 broad.mit.edu 37 19 11527337 11527337 + Missense_Mutation SNP C C G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr19:11527337C>G uc002mrp.2 - 4 440 c.376G>C c.(376-378)GAG>CAG p.E126Q RGL3_uc002mrn.2_5'UTR|RGL3_uc002mrm.2_Splice_Site|RGL3_uc002mro.2_Missense_Mutation_p.E126Q|RGL3_uc002mrq.2_3'UTR NM_001035223 NP_001030300 Q3MIN7 RGL3_HUMAN ral guanine nucleotide dissociation 126 N-terminal Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular ovary(1) 1 TTCTTGATCTCTACCCTGGGA 0.572 NaN 0 0 0 0.001984 0 6 115 ANKLE1 126549 broad.mit.edu 37 19 17394183 17394183 + Missense_Mutation SNP G G T TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr19:17394183G>T uc002nga.2 + 5 886 c.610G>T c.(610-612)GGG>TGG p.G204W ANKLE1_uc010xpm.1_RNA|ANKLE1_uc010eao.1_Missense_Mutation_p.G226W|ANKLE1_uc010xpn.1_Missense_Mutation_p.G258W|ANKLE1_uc002nfy.2_Missense_Mutation_p.G193W|ANKLE1_uc002nfz.2_5'UTR NM_152363 NP_689576 Q8NAG6 ANKL1_HUMAN ankyrin repeat domain 41 204 nuclear envelope 0 GGACAAACATGGGAGCTCGGC 0.607 NaN 1 0 2.4624e-09 0.008871 2.6676e-09 20 130 ANKLE1 126549 broad.mit.edu 37 19 17394264 17394264 + Missense_Mutation SNP G G C TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr19:17394264G>C uc002nga.2 + 5 967 c.691G>C c.(691-693)GAG>CAG p.E231Q ANKLE1_uc010xpm.1_RNA|ANKLE1_uc010eao.1_Missense_Mutation_p.E253Q|ANKLE1_uc010xpn.1_Missense_Mutation_p.E285Q|ANKLE1_uc002nfy.2_Missense_Mutation_p.E220Q|ANKLE1_uc002nfz.2_5'UTR NM_152363 NP_689576 Q8NAG6 ANKL1_HUMAN ankyrin repeat domain 41 231 nuclear envelope 0 CTCTGGAGCTGAGGACCCAGC 0.607 NaN 0 0 0 0.003163 0 14 98 ZNF43 7594 broad.mit.edu 37 19 21991453 21991453 + Silent SNP G G C TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr19:21991453G>C uc002nqj.2 - 4 1516 c.1386C>G c.(1384-1386)GCC>GCG p.A462A ZNF43_uc010ecv.2_Silent_p.A456A|ZNF43_uc002nql.2_Silent_p.A456A|ZNF43_uc002nqm.2_Silent_p.A456A|ZNF43_uc002nqk.2_Silent_p.A392A NM_003423 NP_003414 P17038 ZNF43_HUMAN zinc finger protein 43 462 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) ACTGGTTAAAGGCTTTGCCAC 0.398 NaN 0 0 0 0.004482 0 9 81 FBXO27 126433 broad.mit.edu 37 19 39516075 39516075 + Silent SNP C C T TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr19:39516075C>T uc002okh.2 - 6 910 c.828G>A c.(826-828)GTG>GTA p.V276V NM_178820 NP_849142 Q8NI29 FBX27_HUMAN F-box protein 27 276 FBA. protein catabolic process SCF ubiquitin ligase complex glycoprotein binding ovary(1) 1 all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) CTCGCACGATCACACTGGAGT 0.587 NaN 0 0 0 0.006214 0 8 143 ITPKC 80271 broad.mit.edu 37 19 41239168 41239168 + Missense_Mutation SNP G G A rs144541337 TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr19:41239168G>A uc002oot.2 + 4 1606 c.1573G>A c.(1573-1575)GAG>AAG p.E525K NM_025194 NP_079470 Q96DU7 IP3KC_HUMAN inositol 1,4,5-trisphosphate 3-kinase C 525 cytoplasm|nucleus ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity 0 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) CCCTACCCCTGAGGAGCATGC 0.612 NaN 0 0 0 0.00308 0 8 71 ZNF227 7770 broad.mit.edu 37 19 44740795 44740795 + Missense_Mutation SNP C C A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr19:44740795C>A uc002oyu.2 + 6 2417 c.2212C>A c.(2212-2214)CAC>AAC p.H738N ZNF227_uc010xwu.1_Missense_Mutation_p.H687N|ZNF227_uc002oyv.2_Missense_Mutation_p.H738N|ZNF227_uc010xwv.1_Missense_Mutation_p.H687N|ZNF227_uc010xww.1_Missense_Mutation_p.H659N|ZNF227_uc002oyw.2_Missense_Mutation_p.H710N|ZNF227_uc010ejh.2_Missense_Mutation_p.H731N|ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_3'UTR NM_182490 NP_872296 Q86WZ6 ZN227_HUMAN zinc finger protein 227 738 C2H2-type 17. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(69;0.0435) CCTGGGTGTTCACACCAGGGA 0.498 NaN 1 0 1.15088e-07 0.004007 1.23697e-07 15 146 DMPK 1760 broad.mit.edu 37 19 46278206 46278206 + Splice_Site SNP C C G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr19:46278206C>G uc002pdd.1 - 8 1806 c.1262_splice c.e8+1 p.R421_splice DMPK_uc010xxs.1_Splice_Site_p.R322_splice|DMPK_uc002pde.1_Splice_Site_p.R416_splice|DMPK_uc002pdf.1_Splice_Site_p.R411_splice|DMPK_uc002pdg.1_Splice_Site_p.R406_splice|DMPK_uc002pdh.1_Splice_Site_p.R406_splice|DMPK_uc002pdi.1_Splice_Site_p.R437_splice|DMPK_uc010xxt.1_Splice_Site_p.R406_splice NM_001081563 NP_001075032 Q09013 DMPK_HUMAN myotonic dystrophy protein kinase isoform 1 regulation of heart contraction ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3) 3 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24) GCAGTGCTTACCTGAGGGCCA 0.612 NaN 0 0 0 0.009096 0 4 56 FOXA3 3171 broad.mit.edu 37 19 46375619 46375619 + Missense_Mutation SNP C C T TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr19:46375619C>T uc002pdr.2 + 2 553 c.356C>T c.(355-357)CCG>CTG p.P119L NM_004497 NP_004488 P55318 FOXA3_HUMAN forkhead box A3 119 Fork-head. brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(1) 1 Ovarian(192;0.0308)|all_neural(266;0.0476) OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236) GCCAAGCCACCGTATTCCTAT 0.627 NaN 0 0 0 0.003163 0 15 127 C19orf48 84798 broad.mit.edu 37 19 51301447 51301447 + Missense_Mutation SNP C C T TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr19:51301447C>T uc002ptf.2 - 5 1181 c.259G>A c.(259-261)GAG>AAG p.E87K C19orf48_uc002pte.2_RNA|C19orf48_uc002ptg.2_Missense_Mutation_p.E87K NM_199249 NP_954857 Q6RUI8 CS048_HUMAN multidrug resistance-related protein 87 ovary(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145) GCCCAGGTCTCACGGTGGCGT 0.642 NaN 0 0 0 0.003163 0 16 115 ZNF841 284371 broad.mit.edu 37 19 52570184 52570184 + Nonsense_Mutation SNP G G C TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr19:52570184G>C uc002pyl.1 - 5 1155 c.603C>G c.(601-603)TAC>TAG p.Y201* ZNF841_uc010ydh.1_Nonsense_Mutation_p.Y317*|ZNF841_uc010epk.1_Nonsense_Mutation_p.Y201* NM_001136499 NP_001129971 Q6ZN19 ZN841_HUMAN zinc finger protein 841 201 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CATCACATTGGTATGGTTTCC 0.418 NaN 0 0 0 0.001168 0 6 44 ZNF845 91664 broad.mit.edu 37 19 53854397 53854397 + Missense_Mutation SNP G G C rs10415799 by1000genomes TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr19:53854397G>C uc010ydv.1 + 4 586 c.469G>C c.(469-471)GAA>CAA p.E157Q ZNF845_uc010ydw.1_Missense_Mutation_p.E157Q NM_138374 NP_612383 Q96IR2 ZN845_HUMAN zinc finger protein 845 157 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GTTTCAGACCGAAGGGAAAAT 0.408 NaN 0 0 0 0.006214 0 9 211 U2AF2 11338 broad.mit.edu 37 19 56171880 56171880 + Splice_Site SNP A A C TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr19:56171880A>C uc002qlu.2 + 4 1286 c.231_splice c.e4-2 p.I77_splice U2AF2_uc002qlt.2_Splice_Site_p.I77_splice NM_007279 NP_009210 P26368 U2AF2_HUMAN U2 (RNU2) small nuclear RNA auxiliary factor 2 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription nucleoplasm|spliceosomal complex enzyme binding|nucleotide binding|RNA binding ovary(1) 1 Colorectal(82;0.00244)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) CACCTCCCCCAGTCGTTCCCC 0.637 NaN 0 0 0 0.001168 0 4 22 NLRP5 126206 broad.mit.edu 37 19 56539147 56539147 + Silent SNP C C T TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr19:56539147C>T uc002qmj.2 + 7 1548 c.1548C>T c.(1546-1548)GTC>GTT p.V516V NLRP5_uc002qmi.2_Silent_p.V497V NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 516 NACHT. mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) GAGGCGTGGTCCGGCGCTGTC 0.592 NaN 0 0 0 0.00308 0 8 29 ZNF132 7691 broad.mit.edu 37 19 58946488 58946488 + Missense_Mutation SNP G G A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr19:58946488G>A uc002qst.3 - 3 724 c.323C>T c.(322-324)CCT>CTT p.P108L NM_003433 NP_003424 P52740 ZN132_HUMAN zinc finger protein 132 108 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182) CTTGGTGGAAGGATCTGCATT 0.498 NaN 0 0 0 0.008361 0 27 210 ASAP2 8853 broad.mit.edu 37 2 9498900 9498900 + Missense_Mutation SNP C C A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr2:9498900C>A uc002qzh.2 + 15 1683 c.1343C>A c.(1342-1344)TCC>TAC p.S448Y ASAP2_uc002qzi.2_Missense_Mutation_p.S448Y NM_003887 NP_003878 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH 448 Arf-GAP. regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding 0 ACATGGCTTTCCACCAACCTG 0.498 NaN 1 0 4.75955e-12 0.00361 5.23934e-12 48 321 ROCK2 9475 broad.mit.edu 37 2 11355053 11355053 + Missense_Mutation SNP C C G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr2:11355053C>G uc002rbd.1 - 16 2298 c.1849G>C c.(1849-1851)GAA>CAA p.E617Q NM_004850 NP_004841 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein 617 Potential.|Interaction with PPP1R12A. axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity stomach(2)|skin(2) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) AATTCCTTTTCAAGTTTTAAC 0.383 NaN 0 0 0 0.001168 0 6 94 NT5C1B 93034 broad.mit.edu 37 2 18757543 18757543 + Silent SNP G G A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr2:18757543G>A uc002rcz.2 - 9 1520 c.1416C>T c.(1414-1416)CTC>CTT p.L472L NT5C1B_uc002rcy.2_Silent_p.L472L|NT5C1B_uc010exr.2_Silent_p.L414L|NT5C1B_uc010yju.1_Silent_p.L412L|NT5C1B_uc002rda.2_Silent_p.L412L|NT5C1B_uc010yjv.1_Silent_p.L489L|NT5C1B_uc010yjw.1_Silent_p.L455L|NT5C1B_uc010exs.2_Silent_p.L474L NM_001002006 NP_001002006 Q96P26 5NT1B_HUMAN 5' nucleotidase, cytosolic IB isoform 1 472 purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding skin(2)|ovary(1) 3 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) CATCAGAGAAGAGGACAGCAT 0.453 NaN 0 0 0 0.001168 0 5 83 SIX2 10736 broad.mit.edu 37 2 45233476 45233476 + Missense_Mutation SNP G G A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr2:45233476G>A uc002ruo.2 - 2 1002 c.709C>T c.(709-711)CCC>TCC p.P237S SIX2_uc002rup.2_Missense_Mutation_p.P239S NM_016932 NP_058628 Q9NPC8 SIX2_HUMAN SIX homeobox 2 237 nucleus sequence-specific DNA binding transcription factor activity pancreas(1) 1 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) AGCCCAGGGGGCGGCGGGCTG 0.701 NaN 0 0 0 0.00499 0 16 140 TSPYL6 388951 broad.mit.edu 37 2 54482756 54482756 + Missense_Mutation SNP C C G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr2:54482756C>G uc002rxr.2 - 1 654 c.533G>C c.(532-534)AGA>ACA p.R178T ACYP2_uc002rxq.3_Intron NM_001003937 NP_001003937 Q8N831 TSYL6_HUMAN TSPY-like 6 178 nucleosome assembly nucleus 0 ATCTATTGCTCTGTTTTCTTC 0.617 NaN 0 0 0 0.004007 0 15 166 MCEE 84693 broad.mit.edu 37 2 71337220 71337220 + Missense_Mutation SNP C C G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr2:71337220C>G uc002shs.2 - 3 456 c.411G>C c.(409-411)TTG>TTC p.L137F NM_032601 NP_115990 Q96PE7 MCEE_HUMAN methylmalonyl CoA epimerase precursor 137 fatty acid beta-oxidation|L-methylmalonyl-CoA metabolic process mitochondrial matrix methylmalonyl-CoA epimerase activity ovary(1) 1 TCTTTTTTTTCAAATCCATCA 0.333 NaN 0 0 0 0.006214 0 8 42 FBXO41 150726 broad.mit.edu 37 2 73493771 73493771 + Silent SNP C C T TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr2:73493771C>T uc002sjb.1 - 3 1128 c.1128G>A c.(1126-1128)GCG>GCA p.A376A NM_001080410 NP_001073879 Q8TF61 FBX41_HUMAN F-box protein 41 315 Potential. intracellular protein binding|zinc ion binding breast(2)|pancreas(1) 3 CCTCCCGCGCCGCCGTCTCCT 0.667 NaN 0 0 0 0.00308 0 7 77 C2orf3 6936 broad.mit.edu 37 2 75917840 75917840 + Missense_Mutation SNP C C T TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr2:75917840C>T uc002sno.2 - 8 1280 c.1150G>A c.(1150-1152)GAT>AAT p.D384N C2orf3_uc010ffs.2_5'UTR|C2orf3_uc002snn.2_Missense_Mutation_p.D215N|C2orf3_uc010fft.2_Missense_Mutation_p.D59N NM_003203 NP_003194 P16383 GCF_HUMAN hypothetical protein LOC6936 384 negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 GATGTCTCATCTTTGCCTGTT 0.289 NaN 0 0 0 0.007413 0 19 163 LRP2 4036 broad.mit.edu 37 2 170063207 170063207 + Silent SNP G G C TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr2:170063207G>C uc002ues.2 - 39 7236 c.7023C>G c.(7021-7023)GTC>GTG p.V2341V NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 2341 Extracellular (Potential). 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) GGTTGTTGTTGACCTCTGCTG 0.507 NaN 0 0 0 0.006214 0 9 59 AGPS 8540 broad.mit.edu 37 2 178346824 178346824 + Missense_Mutation SNP C C G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr2:178346824C>G uc002ull.2 + 11 1190 c.1143C>G c.(1141-1143)ATC>ATG p.I381M AGPS_uc010zfb.1_Missense_Mutation_p.I291M NM_003659 NP_003650 O00116 ADAS_HUMAN alkyldihydroxyacetone phosphate synthase 381 FAD-binding PCMH-type. ether lipid biosynthetic process peroxisomal matrix|peroxisomal membrane|plasma membrane alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358) CAATAAAAATCAGACCAGTCC 0.338 NaN 0 0 0 0.008291 0 10 47 TTN 7273 broad.mit.edu 37 2 179474920 179474920 + Silent SNP G G T TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr2:179474920G>T uc010zfg.1 - 220 43853 c.43629C>A c.(43627-43629)CTC>CTA p.L14543L uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L8238L|TTN_uc010zfi.1_Silent_p.L8171L|TTN_uc010zfj.1_Silent_p.L8046L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 15470 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) CATTTGGTATGAGATCCTTCA 0.418 NaN 1 0 5.61819e-17 0.005443 6.33787e-17 27 220 TTN 7273 broad.mit.edu 37 2 179640747 179640747 + Missense_Mutation SNP C C G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr2:179640747C>G uc010zfg.1 - 28 6068 c.5844G>C c.(5842-5844)GAG>GAC p.E1948D TTN_uc010zfh.1_Missense_Mutation_p.E1902D|TTN_uc010zfi.1_Missense_Mutation_p.E1902D|TTN_uc010zfj.1_Missense_Mutation_p.E1902D|TTN_uc002unb.2_Missense_Mutation_p.E1948D|uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1948 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) GTACGTGAAACTCAGGCCTTG 0.423 NaN 0 0 0 0.008871 0 18 261 NCKAP1 10787 broad.mit.edu 37 2 183817542 183817542 + Missense_Mutation SNP C C T TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr2:183817542C>T uc002upc.2 - 22 2884 c.2482G>A c.(2482-2484)GAG>AAG p.E828K NCKAP1_uc002upb.2_Missense_Mutation_p.E834K NM_013436 NP_038464 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 isoform 1 828 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) GAATATTCCTCTGCATTGAAT 0.338 NaN 0 0 0 0.008291 0 9 44 PMS1 5378 broad.mit.edu 37 2 190728630 190728630 + Missense_Mutation SNP C C G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr2:190728630C>G uc002urh.3 + 10 2547 c.2018C>G c.(2017-2019)TCT>TGT p.S673C PMS1_uc010zga.1_3'UTR|PMS1_uc010zgb.1_Missense_Mutation_p.S612C|PMS1_uc002urk.3_Missense_Mutation_p.S634C|PMS1_uc002uri.3_Intron|PMS1_uc010zgc.1_Missense_Mutation_p.S497C|PMS1_uc010zgd.1_Missense_Mutation_p.S497C|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Missense_Mutation_p.S634C|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Intron|PMS1_uc002urm.2_RNA|PMS1_uc002urn.1_Missense_Mutation_p.S341C NM_000534 NP_000525 P54277 PMS1_HUMAN postmeiotic segregation 1 isoform a 673 mismatch repair|reciprocal meiotic recombination MutLalpha complex ATP binding|ATPase activity|mismatched DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751) ACCTCATTATCTAATCAACCA 0.358 NaN Mis|N colorectal|endometrial|ovarian Direct_reversal_of_damage|MMR 0 0 0 0.001855 0 13 117 CCDC150 284992 broad.mit.edu 37 2 197521488 197521488 + Missense_Mutation SNP G G A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr2:197521488G>A uc002utp.1 + 3 443 c.308G>A c.(307-309)CGA>CAA p.R103Q CCDC150_uc002uto.1_Missense_Mutation_p.R103Q|CCDC150_uc010zgq.1_RNA|CCDC150_uc010zgr.1_Intron|CCDC150_uc010zgs.1_Intron NM_001080539 NP_001074008 Q8NCX0 CC150_HUMAN coiled-coil domain containing 150 103 0 CTGGTAAATCGAATGTGCCGT 0.398 NaN 0 0 0 0.008361 0 29 65 BOLL 66037 broad.mit.edu 37 2 198607796 198607796 + Missense_Mutation SNP C C G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr2:198607796C>G uc002uus.2 - 10 1127 c.817G>C c.(817-819)GAG>CAG p.E273Q uc002uup.2_Intron|BOLL_uc002uur.2_Missense_Mutation_p.E279Q|BOLL_uc002uut.2_Missense_Mutation_p.E285Q|BOLL_uc010zha.1_Missense_Mutation_p.E164Q|BOLL_uc002uuu.1_Missense_Mutation_p.E301Q NM_033030 NP_149019 Q8N9W6 BOLL_HUMAN boule isoform 2 273 cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis cytoplasm nucleotide binding|protein binding|RNA binding|translation activator activity ovary(2) 2 TTAATTGGCTCAGGCTGCATC 0.358 NaN 0 0 0 0.012319 0 21 36 PARD3B 117583 broad.mit.edu 37 2 205969201 205969201 + Missense_Mutation SNP G G C TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr2:205969201G>C uc002var.1 + 5 763 c.556G>C c.(556-558)GAA>CAA p.E186Q PARD3B_uc010fub.1_Missense_Mutation_p.E186Q|PARD3B_uc002vao.1_Missense_Mutation_p.E186Q|PARD3B_uc002vap.1_Missense_Mutation_p.E186Q|PARD3B_uc002vaq.1_Missense_Mutation_p.E186Q NM_152526 NP_689739 Q8TEW8 PAR3L_HUMAN par-3 partitioning defective 3 homolog B isoform 186 cell cycle|cell division endomembrane system|tight junction skin(2)|ovary(1)|breast(1) 4 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) TGTACAGACAGAACTACTAAC 0.338 NaN 0 0 0 0.010818 0 29 128 PROCR 10544 broad.mit.edu 37 20 33762599 33762599 + Silent SNP G G A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr20:33762599G>A uc002xbt.2 + 2 349 c.165G>A c.(163-165)ACG>ACA p.T55T EDEM2_uc010zuv.1_Intron|PROCR_uc010zuw.1_Silent_p.T92T NM_006404 NP_006395 Q9UNN8 EPCR_HUMAN endothelial protein C receptor precursor 55 Extracellular (Potential). antigen processing and presentation|blood coagulation|immune response integral to plasma membrane|MHC class I protein complex receptor activity 0 BRCA - Breast invasive adenocarcinoma(18;0.0152) Drotrecogin alfa(DB00055) GACACCTAACGCACGTGCTGG 0.627 NaN 0 0 0 0.001984 0 7 110 RALGAPB 57148 broad.mit.edu 37 20 37153561 37153561 + Nonsense_Mutation SNP C C A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr20:37153561C>A uc002xiw.2 + 11 2017 c.1760C>A c.(1759-1761)TCA>TAA p.S587* RALGAPB_uc010zvz.1_3'UTR|RALGAPB_uc002xix.2_Nonsense_Mutation_p.S587*|RALGAPB_uc002xiy.1_Nonsense_Mutation_p.S587*|RALGAPB_uc002xiz.2_Nonsense_Mutation_p.S365*|RALGAPB_uc002xja.1_Nonsense_Mutation_p.S314* NM_020336 NP_065069 Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit 587 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity pancreas(1)|skin(1) 2 TACTTTATTTCAGCTCTTGAA 0.433 NaN 1 0 3.8128e-34 0.00361 4.35521e-34 55 275 SLC37A1 54020 broad.mit.edu 37 21 43938572 43938572 + Missense_Mutation SNP G G A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr21:43938572G>A uc002zbi.2 + 3 420 c.8G>A c.(7-9)CGA>CAA p.R3Q SLC37A1_uc002zbh.1_RNA|SLC37A1_uc002zbj.2_Missense_Mutation_p.R3Q NM_018964 NP_061837 P57057 GLPT_HUMAN solute carrier family 37 member 1 3 carbohydrate transport|transmembrane transport integral to membrane 0 TAAATGGCTCGACTCCCCGCT 0.547 NaN 0 0 0 0.002836 0 30 80 PDE9A 5152 broad.mit.edu 37 21 44174150 44174150 + Silent SNP C C T TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr21:44174150C>T uc002zbm.2 + 10 849 c.786C>T c.(784-786)GAC>GAT p.D262D PDE9A_uc002zbn.2_Silent_p.D135D|PDE9A_uc002zbo.2_Silent_p.D209D|PDE9A_uc002zbp.2_Silent_p.D55D|PDE9A_uc002zbq.2_Silent_p.D160D|PDE9A_uc002zbs.2_Silent_p.D55D|PDE9A_uc002zbr.2_Silent_p.D55D|PDE9A_uc002zbt.2_Silent_p.D134D|PDE9A_uc002zbu.2_Silent_p.D128D|PDE9A_uc002zbv.2_Silent_p.D102D|PDE9A_uc002zbw.2_Silent_p.D45D|PDE9A_uc002zbx.2_Silent_p.D202D|PDE9A_uc002zby.2_Silent_p.D45D|PDE9A_uc002zbz.2_Silent_p.D154D|PDE9A_uc002zca.2_Silent_p.D221D|PDE9A_uc002zcb.2_Silent_p.D236D|PDE9A_uc002zcc.2_Silent_p.D161D|PDE9A_uc002zcd.2_Silent_p.D176D|PDE9A_uc002zce.2_Silent_p.D195D|PDE9A_uc002zcf.2_Silent_p.D55D|PDE9A_uc002zcg.2_Silent_p.D55D|PDE9A_uc002zch.2_Silent_p.D45D|PDE9A_uc010gpf.1_Silent_p.D55D NM_002606 NP_002597 O76083 PDE9A_HUMAN phosphodiesterase 9A isoform a 262 platelet activation|signal transduction cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding ovary(1)|skin(1) 2 CGACCTTTGACGTCTGGCTTT 0.627 NaN 0 0 0 0.004482 0 7 56 CLTCL1 8218 broad.mit.edu 37 22 19175135 19175135 + Missense_Mutation SNP G G T TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr22:19175135G>T uc002zpb.2 - 30 4615 c.4540C>A c.(4540-4542)CTG>ATG p.L1514M CLTCL1_uc011agv.1_Intron|CLTCL1_uc011agw.1_Missense_Mutation_p.L1493M|CLTCL1_uc011agt.1_Missense_Mutation_p.L305M|CLTCL1_uc011agu.1_Intron NM_007098 NP_009029 P53675 CLH2_HUMAN clathrin, heavy polypeptide-like 1 isoform 1 1514 Involved in binding clathrin light chain (By similarity).|Proximal segment.|Heavy chain arm. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity ovary(4)|central_nervous_system(1) 5 Colorectal(54;0.0993) CCCTTGTACAGATAGGCCGCA 0.542 NaN T NaN ALCL 1 0 4.14922e-12 0.004007 4.58598e-12 15 115 MCM5 4174 broad.mit.edu 37 22 35808507 35808507 + Silent SNP C C T TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr22:35808507C>T uc003anu.3 + 8 1018 c.924C>T c.(922-924)CGC>CGT p.R308R MCM5_uc010gwr.2_Silent_p.R117R|MCM5_uc003anv.3_Silent_p.R265R|MCM5_uc010gws.1_RNA|MCM5_uc003anw.1_Silent_p.R92R NM_006739 NP_006730 P33992 MCM5_HUMAN minichromosome maintenance complex component 5 308 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding ovary(1) 1 ACCAAGGCCGCAGCTTTGCTG 0.627 NaN 0 0 0 0.007413 0 15 186 SYNGR1 9145 broad.mit.edu 37 22 39770522 39770522 + Missense_Mutation SNP C C G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr22:39770522C>G uc003axq.3 + 2 363 c.301C>G c.(301-303)CGC>GGC p.R101G SYNGR1_uc003axo.3_Missense_Mutation_p.R101G|SYNGR1_uc003axp.3_Silent_p.T31T|TAB1_uc003axr.2_5'UTR|SYNGR1_uc003axs.3_Missense_Mutation_p.R102G NM_004711 NP_004702 O43759 SNG1_HUMAN synaptogyrin 1 isoform 1a 101 MARVEL. regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity cell junction|integral to plasma membrane|melanosome 0 Melanoma(58;0.04) CGTCAAGGACCGCAAGAAAGC 0.622 NaN 0 0 0 0.00245 0 13 174 MKL1 57591 broad.mit.edu 37 22 40814492 40814492 + Silent SNP G G A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr22:40814492G>A uc003ayv.1 - 9 2157 c.1950C>T c.(1948-1950)ATC>ATT p.I650I MKL1_uc003ayw.1_Silent_p.I650I|MKL1_uc010gye.1_Silent_p.I650I|MKL1_uc010gyf.1_Silent_p.I600I NM_020831 NP_065882 Q969V6 MKL1_HUMAN megakaryoblastic leukemia 1 protein 650 Pro-rich. positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 CAACCCCCTTGATGAGGCTGG 0.662 NaN T RBM15 acute megakaryocytic leukemia 0 0 0 0.006214 0 9 142 SCN10A 6336 broad.mit.edu 37 3 38783971 38783971 + Silent SNP A A C TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr3:38783971A>C uc003ciq.2 - 13 1917 c.1917T>G c.(1915-1917)TCT>TCG p.S639S NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 639 sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GATACTTCTGAGACAAGCTGG 0.488 NaN 0 0 0 0.004656 0 23 178 IMPDH2 3615 broad.mit.edu 37 3 49063798 49063798 + Missense_Mutation SNP C C T TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr3:49063798C>T uc003cvt.2 - 9 1057 c.965G>A c.(964-966)CGG>CAG p.R322Q NM_000884 NP_000875 P12268 IMDH2_HUMAN inosine monophosphate dehydrogenase 2 322 IMP. GMP biosynthetic process|purine base metabolic process cytosol|nucleus IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157) CATGCCCACCCGCAGGGCATC 0.527 NaN 0 0 0 0.001168 0 5 47 TLR9 54106 broad.mit.edu 37 3 52256140 52256140 + Missense_Mutation SNP T T G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr3:52256140T>G uc003dda.1 - 2 2826 c.2192A>C c.(2191-2193)AAC>ACC p.N731T TLR9_uc003ddb.2_Missense_Mutation_p.N828T NM_017442 NP_059138 Q9NR96 TLR9_HUMAN toll-like receptor 9 isoform A precursor 731 LRR 25.|Extracellular (Potential). defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity large_intestine(2)|skin(2) 4 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) GGCGCTAAGGTTGAGCTCTCG 0.617 NaN 0 0 0 0.00245 0 14 139 SFMBT1 51460 broad.mit.edu 37 3 52962228 52962228 + Silent SNP G G A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr3:52962228G>A uc003dgf.2 - 10 1596 c.1027C>T c.(1027-1029)CTA>TTA p.L343L SFMBT1_uc010hmr.2_Silent_p.L290L|SFMBT1_uc003dgg.2_Silent_p.L343L|SFMBT1_uc003dgh.2_Silent_p.L343L NM_001005159 NP_001005159 Q9UHJ3 SMBT1_HUMAN Scm-like with four mbt domains 1 343 MBT 3. regulation of transcription, DNA-dependent nucleus ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113) CTGATGTGTAGGCCATTCTTC 0.522 NaN 0 0 0 0.010504 0 18 179 C3orf26 84319 broad.mit.edu 37 3 99881159 99881159 + Missense_Mutation SNP G G A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr3:99881159G>A uc003dtl.2 + 4 381 c.238G>A c.(238-240)GAT>AAT p.D80N NM_032359 NP_115735 Q9BQ75 CC026_HUMAN hypothetical protein LOC84319 80 ATP binding|ATP-dependent helicase activity|nucleic acid binding skin(1) 1 GAAAATTACTGATGTTCTTGC 0.373 NaN 0 0 0 0.010771 0 42 53 RAB6B 51560 broad.mit.edu 37 3 133614283 133614283 + Missense_Mutation SNP G G A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr3:133614283G>A uc003epy.2 - 1 409 c.28C>T c.(28-30)CCA>TCA p.P10S RAB6B_uc011blu.1_5'UTR NM_016577 NP_057661 Q9NRW1 RAB6B_HUMAN RAB6B, member RAS oncogene family 10 protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle|Golgi membrane GTP binding|GTPase activity|protein binding pancreas(1) 1 TTTCTCAGTGGATTCCCAAAA 0.408 NaN 0 0 0 0.004482 0 7 85 LRRC33 375387 broad.mit.edu 37 3 196387064 196387064 + Missense_Mutation SNP C C T TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr3:196387064C>T uc003fwv.2 + 3 654 c.550C>T c.(550-552)CGG>TGG p.R184W NM_198565 NP_940967 Q86YC3 LRC33_HUMAN leucine rich repeat containing 33 precursor 184 Extracellular (Potential).|LRR 6. integral to membrane ovary(2)|central_nervous_system(1) 3 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00326) GGAGCGTCTCCGGGAGCTGGA 0.632 NaN 0 0 0 0.001984 0 6 53 TMEM33 55161 broad.mit.edu 37 4 41941219 41941219 + Silent SNP T T C TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr4:41941219T>C uc003gwi.2 + 3 512 c.147T>C c.(145-147)CAT>CAC p.H49H TMEM33_uc010ifw.2_Intron NM_018126 NP_060596 P57088 TMM33_HUMAN transmembrane protein 33 49 Helical; (Potential). integral to membrane|melanosome protein binding ovary(1) 1 GCAGGTTGCATGAAGCAGCAA 0.438 NaN 0 0 0 0.008291 0 10 101 CEP135 9662 broad.mit.edu 37 4 56818365 56818365 + Missense_Mutation SNP G G C TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr4:56818365G>C uc003hbi.2 + 2 303 c.69G>C c.(67-69)CAG>CAC p.Q23H CEP135_uc003hbh.1_Missense_Mutation_p.Q23H|CEP135_uc010igz.1_5'Flank NM_025009 NP_079285 Q66GS9 CP135_HUMAN centrosome protein 4 23 centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle centriole|cytosol protein C-terminus binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 Glioma(25;0.08)|all_neural(26;0.101) GATACCGCCAGACTCTGACAG 0.373 NaN 0 0 0 0.010729 0 10 107 CSN3 1448 broad.mit.edu 37 4 71114859 71114859 + Missense_Mutation SNP C C T TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr4:71114859C>T uc003hfe.3 + 4 290 c.232C>T c.(232-234)CGC>TGC p.R78C NM_005212 NP_005203 P07498 CASK_HUMAN casein kappa precursor 78 extracellular region protein binding ovary(2)|kidney(1)|central_nervous_system(1) 4 ATATGTGCCTCGCACATATTA 0.448 NaN 0 0 0 0.004482 0 9 91 SPATA5 166378 broad.mit.edu 37 4 123900543 123900543 + Splice_Site SNP T T G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr4:123900543T>G uc003iez.3 + 10 1942 c.1869_splice c.e10+2 p.N623_splice SPATA5_uc003iey.2_Splice_Site_p.N622_splice NM_145207 NP_660208 Q8NB90 SPAT5_HUMAN spermatogenesis associated 5 cell differentiation|multicellular organismal development|spermatogenesis mitochondrion ATP binding|nucleoside-triphosphatase activity 0 GTCCCAAATGTAAGTCATTTA 0.388 NaN 0 0 0 0.001368 0 13 172 PCDH10 57575 broad.mit.edu 37 4 134072052 134072052 + Missense_Mutation SNP C C T TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr4:134072052C>T uc003iha.2 + 1 1583 c.757C>T c.(757-759)CCC>TCC p.P253S uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.P253S NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 253 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) TTTCGACCAACCCGTCTACAC 0.602 NaN 0 0 0 0.001984 0 7 97 DCHS2 54798 broad.mit.edu 37 4 155254442 155254442 + Missense_Mutation SNP T T G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr4:155254442T>G uc003inw.2 - 9 1421 c.1421A>C c.(1420-1422)AAT>ACT p.N474T DCHS2_uc003inx.2_Missense_Mutation_p.N973T NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 474 Cadherin 3. 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) GTGGTTGTCATTGACATCCAT 0.607 NaN 0 0 0 0.007413 0 19 105 SH3RF1 57630 broad.mit.edu 37 4 170017810 170017810 + Nonsense_Mutation SNP G G A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr4:170017810G>A uc003isa.1 - 12 2862 c.2527C>T c.(2527-2529)CAG>TAG p.Q843* NM_020870 NP_065921 Q7Z6J0 SH3R1_HUMAN SH3 domain containing ring finger 1 843 SH3 4. Golgi apparatus|lamellipodium|perinuclear region of cytoplasm ligase activity|zinc ion binding breast(2)|lung(1) 3 Prostate(90;0.00267)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287) GCCTCACTCTGAGGAGGATAG 0.398 NaN 0 0 0 0.001855 0 14 86 MLF1IP 79682 broad.mit.edu 37 4 185622015 185622015 + Missense_Mutation SNP C C G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr4:185622015C>G uc003iwq.2 - 11 1015 c.945G>C c.(943-945)AAG>AAC p.K315N MLF1IP_uc003iwp.2_Intron|MLF1IP_uc003iwr.1_Intron NM_024629 NP_078905 Q71F23 CENPU_HUMAN MLF1 interacting protein 315 Nuclear localization signal (Potential).|Potential. CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm 0 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146) all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419) GCTGCCTTTTCTTTTCGATAT 0.333 NaN 0 0 0 0.00308 0 8 87 F11 2160 broad.mit.edu 37 4 187201424 187201424 + Missense_Mutation SNP G G A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr4:187201424G>A uc003iza.1 + 9 1246 c.913G>A c.(913-915)GAA>AAA p.E305K NM_000128 NP_000119 P03951 FA11_HUMAN coagulation factor XI precursor 305 Apple 4. blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis extracellular space|plasma membrane heparin binding|serine-type endopeptidase activity 0 all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176) Coagulation Factor IX(DB00100) CTTGGGAGAAGAACTGGATAT 0.493 NaN 0 0 0 0.00499 0 16 207 KIAA0947 23379 broad.mit.edu 37 5 5457794 5457794 + Silent SNP G G C TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr5:5457794G>C uc003jdm.3 + 12 1263 c.1041G>C c.(1039-1041)GTG>GTC p.V347V NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 347 Pro-rich. ovary(1)|central_nervous_system(1) 2 TGTCACCAGTGCCCTCGCCCC 0.458 NaN 0 0 0 0.00361 0 62 420 SKP2 6502 broad.mit.edu 37 5 36163852 36163852 + Missense_Mutation SNP G G A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr5:36163852G>A uc003jkc.1 + 3 568 c.386G>A c.(385-387)CGC>CAC p.R129H SKP2_uc011cou.1_Intron|SKP2_uc003jkd.2_Missense_Mutation_p.R129H NM_005983 NP_005974 Q13309 SKP2_HUMAN S-phase kinase-associated protein 2 isoform 1 129 F-box. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle nucleoplasm|SCF ubiquitin ligase complex protein binding central_nervous_system(2)|ovary(1)|breast(1) 4 all_lung(31;5.63e-05) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AGGTGGTATCGCCTAGCGTAA 0.468 NaN 0 0 0 0.008291 0 10 120 C9 735 broad.mit.edu 37 5 39308390 39308390 + Missense_Mutation SNP G G C TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr5:39308390G>C uc003jlv.3 - 8 1271 c.1182C>G c.(1180-1182)ATC>ATG p.I394M NM_001737 NP_001728 P02748 CO9_HUMAN complement component 9 precursor 394 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex 0 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) CTCCAACAGAGATTTCAGAGA 0.368 NaN 0 0 0 0.00308 0 8 166 GPR98 84059 broad.mit.edu 37 5 89985813 89985813 + Missense_Mutation SNP C C A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr5:89985813C>A uc003kju.2 + 30 6722 c.6626C>A c.(6625-6627)ACA>AAA p.T2209K GPR98_uc003kjt.2_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 2209 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) ATGAATGAAACAACAGGAGGA 0.398 NaN 1 0 3.07112e-06 0.010729 3.23712e-06 11 9 CHD1 1105 broad.mit.edu 37 5 98212205 98212205 + Missense_Mutation SNP C C A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr5:98212205C>A uc003knf.2 - 23 3443 c.3295G>T c.(3295-3297)GAT>TAT p.D1099Y CHD1_uc010jbn.2_5'Flank NM_001270 NP_001261 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 1099 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding lung(2)|ovary(1)|breast(1)|pancreas(1) 5 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) GAATCACTATCAGATCCAGAG 0.408 NaN 1 0 3.07112e-06 0.010729 3.23712e-06 9 185 APC 324 broad.mit.edu 37 5 112179759 112179759 + Missense_Mutation SNP C C G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 C G C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr5:112179759C>G uc010jby.2 + 16 8848 c.8468C>G c.(8467-8469)ACA>AGA p.T2823R APC_uc011cvt.1_Missense_Mutation_p.T2805R|APC_uc003kpz.3_Missense_Mutation_p.T2823R|APC_uc003kpy.3_Missense_Mutation_p.T2823R|APC_uc010jbz.2_Missense_Mutation_p.T2540R|APC_uc010jca.2_Missense_Mutation_p.T2123R NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 2823 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) ACTGACAGCACAGAATCCAGT 0.438 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) 0 0 0 0.006999 0 40 42 PCDHA12 56137 broad.mit.edu 37 5 140256667 140256667 + Missense_Mutation SNP C C T TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr5:140256667C>T uc003lic.2 + 1 1737 c.1610C>T c.(1609-1611)GCG>GTG p.A537V PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.A537V NM_018903 NP_061726 Q9UN75 PCDAC_HUMAN protocadherin alpha 12 isoform 1 precursor 537 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGGTGAGCGCGCGCGACGCC 0.687 NaN 0 0 0 0.00361 0 107 89 PCDHB9 56127 broad.mit.edu 37 5 140568500 140568500 + Missense_Mutation SNP G G A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr5:140568500G>A uc003liw.1 + 3 1609 c.1609G>A c.(1609-1611)GGC>AGC p.G537S NM_019119 NP_061992 Q9Y5E1 PCDB9_HUMAN protocadherin beta 9 precursor 537 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTCAGACCGCGGCTCCCCGGC 0.667 NaN 0 0 0 0.00361 0 46 113 PCDHGC5 56097 broad.mit.edu 37 5 140890659 140890659 + Silent SNP C C T rs143362044 byFrequency TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr5:140890659C>T uc003lla.1 + 4 2754 c.2754C>T c.(2752-2754)AAC>AAT p.N918N PCDHGA1_uc003lji.1_Silent_p.N905N|PCDHGA2_uc003ljk.1_Silent_p.N906N|PCDHGA3_uc003ljm.1_Silent_p.N906N|PCDHGA3_uc010jfx.1_Silent_p.N666N|PCDHGB1_uc003ljo.1_Silent_p.N901N|PCDHGA4_uc003ljq.1_Silent_p.N905N|PCDHGB2_uc003ljs.1_Silent_p.N905N|PCDHGA5_uc003lju.1_Silent_p.N905N|PCDHGB3_uc003ljw.1_Silent_p.N903N|PCDHGA6_uc003ljy.1_Silent_p.N906N|PCDHGA7_uc003lka.1_Silent_p.N906N|PCDHGB4_uc003lkc.1_Silent_p.N897N|PCDHGA8_uc003lkd.1_Silent_p.N906N|PCDHGB5_uc003lkf.1_Silent_p.N897N|PCDHGA9_uc003lkh.1_Silent_p.N906N|PCDHGB6_uc003lkj.1_Silent_p.N904N|PCDHGA10_uc003lkl.1_Silent_p.N910N|PCDHGB7_uc003lkn.1_Silent_p.N903N|PCDHGA11_uc003lkp.1_Silent_p.N724N|PCDHGA11_uc003lkq.1_Silent_p.N909N|PCDHGA12_uc003lkt.1_Silent_p.N906N|PCDHGC3_uc003lkv.1_Silent_p.N908N|PCDHGC3_uc003lkw.1_Silent_p.N108N|PCDHGC4_uc003lky.1_Silent_p.N912N NM_018929 NP_061752 Q9Y5F6 PCDGM_HUMAN protocadherin gamma subfamily C, 5 isoform 1 918 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) CACTGACCAACGCAGCTGGCA 0.597 NaN 0 0 0 0.004482 0 8 127 TCERG1 10915 broad.mit.edu 37 5 145890061 145890061 + Silent SNP A A G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr5:145890061A>G uc003lob.2 + 22 3193 c.3153A>G c.(3151-3153)TTA>TTG p.L1051L TCERG1_uc003loc.2_Silent_p.L1030L NM_006706 NP_006697 O14776 TCRG1_HUMAN transcription elongation regulator 1 isoform 1 1051 FF 6. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity ovary(1)|skin(1) 2 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AAAAAATTTTACAGAATGACA 0.383 NaN 0 0 0 0.009535 0 31 46 GRIA1 2890 broad.mit.edu 37 5 153144142 153144142 + Missense_Mutation SNP G G C TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr5:153144142G>C uc003lva.3 + 12 2337 c.1972G>C c.(1972-1974)GAA>CAA p.E658Q GRIA1_uc003luy.3_Missense_Mutation_p.E658Q|GRIA1_uc003luz.3_Missense_Mutation_p.E563Q|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.E578Q|GRIA1_uc011dcx.1_Missense_Mutation_p.E589Q|GRIA1_uc011dcy.1_Missense_Mutation_p.E668Q|GRIA1_uc011dcz.1_Missense_Mutation_p.E668Q NM_001114183 NP_001107655 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 isoform 658 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding ovary(4)|skin(2) 6 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GAAGCAGACAGAAATTGCCTA 0.507 NaN 0 0 0 0.004482 0 8 52 DSP 1832 broad.mit.edu 37 6 7585963 7585963 + Missense_Mutation SNP C C A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr6:7585963C>A uc003mxp.1 + 24 8747 c.8468C>A c.(8467-8469)CCG>CAG p.P2823Q DSP_uc003mxq.1_Missense_Mutation_p.P2224Q NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 2823 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TCTTCGGCTCCGGGGtcccgc 0.428 NaN 1 0 2.44723e-14 0.004656 2.74936e-14 27 137 HIST1H1D 3007 broad.mit.edu 37 6 26234919 26234919 + Missense_Mutation SNP G G C TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr6:26234919G>C uc003nhd.2 - 1 298 c.243C>G c.(241-243)ATC>ATG p.I81M NM_005320 NP_005311 P16402 H13_HUMAN histone cluster 1, H1d 81 H15. nucleosome assembly nucleosome|nucleus DNA binding skin(1) 1 all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167) GGCCAAGCTTGATACGGCTGT 0.542 NaN 0 0 0 0.012319 0 22 160 HLA-A 3105 broad.mit.edu 37 6 29910693 29910693 + Missense_Mutation SNP A A G rs41559716 TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr6:29910693A>G uc003nol.2 + 2 233 c.233A>G c.(232-234)CAG>CGG p.Q78R HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'UTR|HLA-A_uc003nok.2_5'UTR|HLA-A_uc003non.2_Missense_Mutation_p.Q78R|HLA-A_uc003noo.2_Missense_Mutation_p.Q78R|HLA-A_uc010jrr.2_Missense_Mutation_p.Q78R|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_Missense_Mutation_p.Q50R|HLA-A_uc011dmc.1_5'UTR|HLA-A_uc011dmd.1_5'Flank NM_002116 NP_002107 P30443 1A01_HUMAN major histocompatibility complex, class I, A 78 Extracellular (Potential).|Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity upper_aerodigestive_tract(1)|ovary(1) 2 TGGATAGAGCAGGAGGGGCCG 0.657 NaN Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of Multiple Myeloma(9;0.094) 0 0 0 0.001168 0 4 22 CFB 629 broad.mit.edu 37 6 31918657 31918657 + Silent SNP C C G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr6:31918657C>G uc003nyj.3 + 14 2069 c.1791C>G c.(1789-1791)CTC>CTG p.L597L CFB_uc011dor.1_Silent_p.L1099L NM_001710 NP_001701 P00751 CFAB_HUMAN complement factor B preproprotein 597 Peptidase S1. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity skin(1) 1 CCATTTGTCTCCCCTGCACCG 0.532 NaN 0 0 0 0.008871 0 18 130 PHF3 23469 broad.mit.edu 37 6 64422216 64422216 + Missense_Mutation SNP A A G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr6:64422216A>G uc003pep.1 + 15 4758 c.4732A>G c.(4732-4734)ATT>GTT p.I1578V PHF3_uc003pen.2_Missense_Mutation_p.I1490V|PHF3_uc011dxs.1_Missense_Mutation_p.I847V NM_015153 NP_055968 Q92576 PHF3_HUMAN PHD finger protein 3 1578 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding ovary(3)|lung(1)|skin(1) 5 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) AAATTTATCAATTCAGTCAAA 0.378 NaN 0 0 0 0.000602 0 5 95 IRAK1BP1 134728 broad.mit.edu 37 6 79577433 79577433 + Missense_Mutation SNP A A C TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr6:79577433A>C uc003pim.2 + 1 245 c.140A>C c.(139-141)CAA>CCA p.Q47P IRAK1BP1_uc010kbg.1_RNA NM_001010844 NP_001010844 Q5VVH5 IKBP1_HUMAN interleukin-1 receptor-associated kinase 1 47 Intrinsically disordered. I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus 0 all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223) BRCA - Breast invasive adenocarcinoma(397;0.21) ACACAAGCCCAAACTGCTACC 0.652 NaN 0 0 0 0.001368 0 12 45 RPF2 84154 broad.mit.edu 37 6 111346773 111346773 + Silent SNP T T A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr6:111346773T>A uc003pun.2 + 10 928 c.909T>A c.(907-909)ATT>ATA p.I303I RPF2_uc003puo.2_Silent_p.I240I|uc003pup.1_5'Flank NM_032194 NP_115570 Q9H7B2 RPF2_HUMAN brix domain containing 1 303 nucleolus protein binding ovary(2) 2 CAAAAAGAATTAAAAAAAATT 0.368 NaN 0 0 0 0.001855 0 8 28 ECHDC1 55862 broad.mit.edu 37 6 127611373 127611373 + Missense_Mutation SNP T T C TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr6:127611373T>C uc003qax.2 - 6 601 c.565A>G c.(565-567)ATA>GTA p.I189V ECHDC1_uc003qaz.3_Missense_Mutation_p.I183V|ECHDC1_uc010key.2_Missense_Mutation_p.I108V|ECHDC1_uc003qay.3_3'UTR|ECHDC1_uc010kez.2_3'UTR|ECHDC1_uc010kex.2_RNA NM_001139510 NP_001132982 Q9NTX5 ECHD1_HUMAN enoyl Coenzyme A hydratase domain containing 1 189 catalytic activity 0 GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156) CTTGGTATTATGCCCATCTCT 0.413 NaN 0 0 0 0.006214 0 10 84 BCLAF1 9774 broad.mit.edu 37 6 136600967 136600967 + Nonsense_Mutation SNP G G T TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr6:136600967G>T uc003qgx.1 - 3 291 c.38C>A c.(37-39)TCA>TAA p.S13* BCLAF1_uc003qgw.1_Nonsense_Mutation_p.S13*|BCLAF1_uc003qgy.1_Nonsense_Mutation_p.S13*|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Nonsense_Mutation_p.S13* NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 13 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TCTAGACTTTGACCTTGAAGA 0.303 NaN 1 0 1.12685e-05 0.004482 1.18319e-05 9 75 SASH1 23328 broad.mit.edu 37 6 148864865 148864865 + Silent SNP C C G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr6:148864865C>G uc003qme.1 + 18 2734 c.2259C>G c.(2257-2259)CCC>CCG p.P753P SASH1_uc011eeb.1_Silent_p.P514P|SASH1_uc003qmf.1_Silent_p.P163P NM_015278 NP_056093 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 753 protein binding central_nervous_system(1) 1 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) CCACCGAGCCCAGCTTGAAGT 0.463 NaN 0 0 0 0.00278 0 21 93 C6orf72 116254 broad.mit.edu 37 6 149901812 149901812 + Missense_Mutation SNP A A C TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr6:149901812A>C uc003qmq.1 + 6 697 c.670A>C c.(670-672)AAG>CAG p.K224Q C6orf72_uc010kie.1_Missense_Mutation_p.K104Q NM_138785 NP_620140 Q9NU53 CF072_HUMAN hypothetical protein LOC116254 precursor 224 Extracellular (Potential). integral to membrane 0 Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;9.66e-12)|GBM - Glioblastoma multiforme(68;0.171) TTTACCTGGCAAGTTACCTGA 0.398 NaN 0 0 0 0.001168 0 6 107 AKAP12 9590 broad.mit.edu 37 6 151671634 151671634 + Missense_Mutation SNP G G A rs151321698 byFrequency TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr6:151671634G>A uc011eep.1 + 4 2348 c.2108G>A c.(2107-2109)GGA>GAA p.G703E AKAP12_uc003qoe.2_Missense_Mutation_p.G703E|AKAP12_uc003qof.2_Missense_Mutation_p.G605E|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.G598E NM_005100 NP_005091 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 isoform 1 703 G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 8 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) GAGGAAGGGGGACCAAAAGCA 0.502 NaN 0 0 0 0.00499 0 17 150 SYNE1 23345 broad.mit.edu 37 6 152621819 152621819 + Missense_Mutation SNP C C G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr6:152621819C>G uc010kiw.2 - 93 18241 c.17639G>C c.(17638-17640)CGC>CCC p.R5880P SYNE1_uc010kiv.2_Missense_Mutation_p.R404P|SYNE1_uc003qos.3_Missense_Mutation_p.R404P|SYNE1_uc003qot.3_Missense_Mutation_p.R5809P|SYNE1_uc003qou.3_Missense_Mutation_p.R5880P|SYNE1_uc010kiy.1_Intron NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5880 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TGAAGGGGAGCGACAGGCAGG 0.537 NaN HNSCC(10;0.0054) 0 0 0 0.004482 0 6 74 SYNE1 23345 broad.mit.edu 37 6 152665261 152665261 + Missense_Mutation SNP C C A rs4645434 byFrequency TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr6:152665261C>A uc010kiw.2 - 74 12782 c.12180G>T c.(12178-12180)GAG>GAT p.E4060D SYNE1_uc003qot.3_Missense_Mutation_p.E3989D|SYNE1_uc003qou.3_Missense_Mutation_p.E4060D|SYNE1_uc010kja.1_Missense_Mutation_p.E765D NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4060 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding p.E4060D(1) central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GAGGACTTGGCTCTAAATCCG 0.453 NaN HNSCC(10;0.0054) 1 0 0.00116845 0.001168 0.0011947 6 122 CARD11 84433 broad.mit.edu 37 7 2954983 2954983 + Missense_Mutation SNP C C G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr7:2954983C>G uc003smv.2 - 21 3131 c.2727G>C c.(2725-2727)AAG>AAC p.K909N NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 909 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1) 50 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TCCGCTTATACTTGTTCTCGG 0.602 NaN Mis DLBCL 0 0 0 0.008291 0 9 86 CARD11 84433 broad.mit.edu 37 7 2956960 2956960 + Silent SNP G G C TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr7:2956960G>C uc003smv.2 - 20 3071 c.2667C>G c.(2665-2667)CTC>CTG p.L889L NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 889 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1) 50 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TTGCTCGCGAGAGACGGGGGC 0.557 NaN Mis DLBCL 0 0 0 0.009096 0 4 40 AGR3 155465 broad.mit.edu 37 7 16913456 16913456 + Missense_Mutation SNP C C T TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr7:16913456C>T uc003sts.2 - 3 194 c.121G>A c.(121-123)GAC>AAC p.D41N NM_176813 NP_789783 Q8TD06 AGR3_HUMAN breast cancer membrane protein 11 precursor 41 extracellular region 0 Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202) UCEC - Uterine corpus endometrioid carcinoma (126;0.184) CAAGTGATGTCATCTCCCCAT 0.348 NaN 0 0 0 0.004482 0 9 126 OGDH 4967 broad.mit.edu 37 7 44746824 44746824 + Missense_Mutation SNP G G A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr7:44746824G>A uc003tln.2 + 21 2742 c.2633G>A c.(2632-2634)GGA>GAA p.G878E OGDH_uc011kbx.1_Missense_Mutation_p.G874E|OGDH_uc011kby.1_Missense_Mutation_p.G728E|OGDH_uc003tlp.2_Missense_Mutation_p.G889E|OGDH_uc011kbz.1_Missense_Mutation_p.G673E NM_002541 NP_002532 Q02218 ODO1_HUMAN oxoglutarate dehydrogenase isoform 1 precursor 878 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding upper_aerodigestive_tract(1)|ovary(1) 2 NADH(DB00157) TCTCTTGTAGGAACCCACTTC 0.562 NaN 0 0 0 0.001984 0 6 102 TPST1 8460 broad.mit.edu 37 7 65817531 65817531 + Missense_Mutation SNP G G C TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr7:65817531G>C uc003tuw.2 + 4 1436 c.1084G>C c.(1084-1086)GAA>CAA p.E362Q TPST1_uc010kzy.2_RNA|TPST1_uc010kzz.2_Missense_Mutation_p.E362Q|TPST1_uc010laa.2_Intron NM_003596 NP_003587 O60507 TPST1_HUMAN tyrosylprotein sulfotransferase 1 362 Lumenal (Potential). inflammatory response|peptidyl-tyrosine sulfation Golgi membrane|integral to membrane|membrane fraction protein-tyrosine sulfotransferase activity 0 CTTTCTTAAAGAAAAACCACA 0.383 NaN 0 0 0 0.003954 0 22 187 PCLO 27445 broad.mit.edu 37 7 82585934 82585934 + Silent SNP C C T TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr7:82585934C>T uc003uhx.2 - 5 4624 c.4335G>A c.(4333-4335)CAG>CAA p.Q1445Q PCLO_uc003uhv.2_Silent_p.Q1445Q NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 1376 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GGTCTTTAGGCTGTTCAGGAG 0.373 NaN 0 0 0 0.010818 0 33 57 FBXL13 222235 broad.mit.edu 37 7 102669092 102669092 + Missense_Mutation SNP G G A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr7:102669092G>A uc003vaq.2 - 4 599 c.172C>T c.(172-174)CAT>TAT p.H58Y FBXL13_uc010lir.1_Missense_Mutation_p.H58Y|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.H58Y|FBXL13_uc003vav.2_Intron NM_145032 NP_659469 Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 isoform 58 0 TGCCAGTGATGAAATACAGAT 0.318 NaN 0 0 0 0.00308 0 8 101 TAS2R39 259285 broad.mit.edu 37 7 142881419 142881419 + Missense_Mutation SNP A A C TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr7:142881419A>C uc011ksw.1 + 1 908 c.908A>C c.(907-909)TAC>TCC p.Y303S NM_176881 NP_795362 P59534 T2R39_HUMAN taste receptor, type 2, member 39 303 Helical; Name=7; (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity skin(1) 1 Melanoma(164;0.059) ATGGCTGCCTACCCTGCCAGC 0.458 NaN 0 0 0 0.004656 0 11 51 OR6B1 135946 broad.mit.edu 37 7 143701410 143701410 + Silent SNP C C G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr7:143701410C>G uc003wdt.1 + 1 321 c.321C>G c.(319-321)CTC>CTG p.L107L NM_001005281 NP_001005281 O95007 OR6B1_HUMAN olfactory receptor, family 6, subfamily B, 107 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Melanoma(164;0.0783) TCATTGCTCTCATGTGCACAG 0.483 NaN 0 0 0 0.004007 0 16 262 GBX1 2636 broad.mit.edu 37 7 150845868 150845868 + Silent SNP G G A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr7:150845868G>A uc011kvg.1 - 2 1132 c.900C>T c.(898-900)CTC>CTT p.L300L NM_001098834 NP_001092304 Q14549 GBX1_HUMAN gastrulation brain homeo box 1 300 Homeobox. nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCACCTCACTGAGCTTGAGGG 0.522 NaN 0 0 0 0.006214 0 9 160 CDCA2 157313 broad.mit.edu 37 8 25365244 25365244 + Missense_Mutation SNP G G C TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr8:25365244G>C uc003xep.1 + 15 3541 c.3062G>C c.(3061-3063)AGA>ACA p.R1021T PPP2R2A_uc003xek.2_Intron|CDCA2_uc011lae.1_3'UTR|CDCA2_uc003xeq.1_Missense_Mutation_p.R1006T|CDCA2_uc003xer.1_Missense_Mutation_p.R684T NM_152562 NP_689775 Q69YH5 CDCA2_HUMAN cell division cycle associated 2 1021 cell division|mitosis cytoplasm|nucleus 0 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) AATGGAGAAAGAAAGCAGTAA 0.453 NaN 0 0 0 0.001168 0 6 82 TSPYL5 85453 broad.mit.edu 37 8 98288924 98288924 + Silent SNP C C T TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr8:98288924C>T uc003yhy.2 - 1 1253 c.1149G>A c.(1147-1149)TTG>TTA p.L383L NM_033512 NP_277047 Q86VY4 TSYL5_HUMAN TSPY-like 5 383 cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth nucleus protein binding large_intestine(1)|ovary(1) 2 Breast(36;2.56e-06) CCCCTTCACTCAAAAGGTAGA 0.483 NaN 0 0 0 0.00361 0 42 321 OXR1 55074 broad.mit.edu 37 8 107719297 107719297 + Missense_Mutation SNP G G C TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr8:107719297G>C uc011lht.1 + 8 1650 c.1551G>C c.(1549-1551)CAG>CAC p.Q517H OXR1_uc003ymf.2_Missense_Mutation_p.Q516H|OXR1_uc011lhu.1_Missense_Mutation_p.Q509H|OXR1_uc010mcg.2_Intron|OXR1_uc010mch.2_Missense_Mutation_p.Q214H|OXR1_uc003ymg.1_Missense_Mutation_p.Q449H|OXR1_uc003ymi.1_Missense_Mutation_p.Q428H NM_018002 NP_060472 Q8N573 OXR1_HUMAN oxidation resistance 1 isoform 1 517 cell wall macromolecule catabolic process|response to oxidative stress mitochondrion 0 OV - Ovarian serous cystadenocarcinoma(57;1.81e-09) AAACTAAACAGCAAAGGGAAA 0.368 NaN 0 0 0 0.010729 0 12 151 ABRA 137735 broad.mit.edu 37 8 107773566 107773566 + Missense_Mutation SNP C C T TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr8:107773566C>T uc003ymm.3 - 2 899 c.845G>A c.(844-846)GGA>GAA p.G282E NM_139166 NP_631905 Q8N0Z2 ABRA_HUMAN actin-binding Rho activating protein 282 Interaction with actin (By similarity). positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport actin cytoskeleton|plasma membrane|sarcomere actin binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(57;3.83e-09) GCCCTCATCTCCTTTGTGTAG 0.517 NaN 0 0 0 0.00361 0 75 100 PHF20L1 51105 broad.mit.edu 37 8 133827086 133827086 + Missense_Mutation SNP G G C TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr8:133827086G>C uc003ytt.2 + 10 1460 c.1135G>C c.(1135-1137)GAT>CAT p.D379H PHF20L1_uc003yts.2_Missense_Mutation_p.D379H|PHF20L1_uc011lja.1_Missense_Mutation_p.D353H|PHF20L1_uc003ytu.1_RNA NM_016018 NP_057102 A8MW92 P20L1_HUMAN PHD finger protein 20-like 1 isoform 1 379 nucleic acid binding|zinc ion binding ovary(2) 2 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) ACAAGTCGAGGATTTGACGCT 0.348 NaN 0 0 0 0.005443 0 21 167 HAUS6 54801 broad.mit.edu 37 9 19093277 19093277 + Missense_Mutation SNP G G C TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr9:19093277G>C uc003znk.2 - 4 581 c.328C>G c.(328-330)CAA>GAA p.Q110E HAUS6_uc003znl.1_5'UTR NM_017645 NP_060115 Q7Z4H7 HAUS6_HUMAN HAUS augmin-like complex, subunit 6 110 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|nucleus|spindle ovary(2) 2 CCAACAACTTGAGGAAAGCTA 0.313 NaN 0 0 0 0.008291 0 11 74 CDKN2A 1029 broad.mit.edu 37 9 21971111 21971111 + Missense_Mutation SNP G G A rs121913385 TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr9:21971111G>A uc003zpk.2 - 2 459 c.247C>T c.(247-249)CAC>TAC p.H83Y MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.A138V NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 83 ANK 3. H -> N (in a lung tumor).|H -> Y (in a pancreas and a head and neck tumor). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.H83Y(28)|p.?(13)|p.H83fs*2(2)|p.H83P(2)|p.H83N(1)|p.V82fs*62(1)|p.V82_E88del(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.A138V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.H83R(1)|p.H83Q(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) GCAGCGTCGTGCACGGGTCGG 0.741 H83Y(CALU3_LUNG)|H83Y(JHH2_LIVER)|H83Y(HS944T_SKIN)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 0 0 0 0.00245 0 11 16 KIAA1045 23349 broad.mit.edu 37 9 34977116 34977116 + Nonsense_Mutation SNP G G T TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr9:34977116G>T uc003zvq.2 + 6 1064 c.886G>T c.(886-888)GAG>TAG p.E296* KIAA1045_uc003zvr.2_Nonsense_Mutation_p.E296* NM_015297 NP_056112 Q9UPV7 K1045_HUMAN hypothetical protein LOC23349 296 calcium ion binding skin(1) 1 LUSC - Lung squamous cell carcinoma(32;0.00575) GAAGGAGCGGGAGCGAGCCCG 0.572 NaN 1 0 1.88708e-17 0.008361 2.13765e-17 27 76 WNK2 65268 broad.mit.edu 37 9 96079823 96079823 + Missense_Mutation SNP G G A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr9:96079823G>A uc004ati.1 + 29 6649 c.6649G>A c.(6649-6651)GTG>ATG p.V2217M WNK2_uc011lud.1_Missense_Mutation_p.V2180M|WNK2_uc004atj.2_Missense_Mutation_p.V2180M|WNK2_uc004atk.2_Missense_Mutation_p.V1705M NM_006648 NP_006639 Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 2217 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1) 12 TCGAGCAGGAGTGGGGATGCC 0.657 NaN 0 0 0 0.00623 0 33 32 MUSK 4593 broad.mit.edu 37 9 113444998 113444998 + Missense_Mutation SNP G G C TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr9:113444998G>C uc004bey.2 + 2 222 c.124G>C c.(124-126)GAA>CAA p.E42Q MUSK_uc004bex.2_Missense_Mutation_p.E42Q NM_005592 NP_005583 O15146 MUSK_HUMAN skeletal muscle receptor tyrosine kinase 42 Ig-like 1.|Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(3)|ovary(2)|central_nervous_system(1) 6 TGCCTTAGTTGAAGAAGTGGC 0.393 NaN 0 0 0 0.006122 0 18 200 LHX2 9355 broad.mit.edu 37 9 126794886 126794886 + Missense_Mutation SNP C C T TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr9:126794886C>T uc004boe.1 + 5 1860 c.1121C>T c.(1120-1122)ACC>ATC p.T374I LHX2_uc010mwi.1_Missense_Mutation_p.T382I NM_004789 NP_004780 P50458 LHX2_HUMAN LIM homeobox protein 2 374 nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding 0 ACTAGCCCCACCCTGCCAACT 0.617 NaN 0 0 0 0.004482 0 8 68 DNM1 1759 broad.mit.edu 37 9 131010868 131010868 + Nonsense_Mutation SNP G G T TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr9:131010868G>T uc011mau.1 + 19 1999 c.1912G>T c.(1912-1914)GAG>TAG p.E638* DNM1_uc011mat.1_Nonsense_Mutation_p.E638*|DNM1_uc004bub.1_Nonsense_Mutation_p.E11*|DNM1_uc004buc.1_Nonsense_Mutation_p.E105*|DNM1_uc004bud.3_RNA NM_004408 NP_004399 Q05193 DYN1_HUMAN dynamin 1 isoform 1 638 receptor-mediated endocytosis microtubule GTP binding|GTPase activity ovary(2) 2 GCAGGCCAGCGAGACCGAGGA 0.597 NaN 1 0 2.61681e-11 0.00245 2.85756e-11 15 109 MAMDC4 158056 broad.mit.edu 37 9 139750491 139750491 + Missense_Mutation SNP G G A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr9:139750491G>A uc004cjs.2 + 14 1660 c.1610G>A c.(1609-1611)CGG>CAG p.R537Q MAMDC4_uc011mej.1_5'UTR NM_206920 NP_996803 Q6UXC1 AEGP_HUMAN apical early endosomal glycoprotein precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment protein transport integral to membrane breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1) 7 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) TCTCTGCAGCGGGCCTGGGGG 0.632 NaN 0 0 0 0.008871 0 18 110 PTCHD1 139411 broad.mit.edu 37 X 23411319 23411319 + Nonsense_Mutation SNP G G T TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chrX:23411319G>T uc004dal.3 + 3 1692 c.1684G>T c.(1684-1686)GAG>TAG p.E562* NM_173495 NP_775766 Q96NR3 PTHD1_HUMAN patched domain containing 1 562 cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity ovary(4)|kidney(1)|skin(1) 6 TTACATATATGAGTCTATAGA 0.403 NaN 1 0 0.000274275 0.004482 0.000282555 9 152 ATRX 546 broad.mit.edu 37 X 76939791 76939791 + Missense_Mutation SNP C C G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chrX:76939791C>G uc004ecp.3 - 9 1189 c.957G>C c.(955-957)AAG>AAC p.K319N ATRX_uc004ecq.3_Missense_Mutation_p.K281N|ATRX_uc004eco.3_Missense_Mutation_p.K104N|ATRX_uc004ecr.2_Missense_Mutation_p.K280N|ATRX_uc010nlx.1_Missense_Mutation_p.K319N|ATRX_uc010nly.1_Missense_Mutation_p.K264N NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 319 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) TTGAACTAGTCTTCTTTGGAG 0.333 NaN Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 0 0 0 0.008291 0 11 80 ZFY 7544 broad.mit.edu 37 Y 2847298 2847298 + Missense_Mutation SNP C C T TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chrY:2847298C>T uc004fqj.2 + 8 1991 c.1670C>T c.(1669-1671)TCG>TTG p.S557L ZFY_uc011nan.1_Missense_Mutation_p.S366L|ZFY_uc010nwe.2_Missense_Mutation_p.S480L NM_003411 NP_003402 P08048 ZFY_HUMAN zinc finger protein, Y-linked isoform 1 557 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CGACACCCGTCGGAACTGAGA 0.473 NaN 0 0 0 0.001984 0 6 26 TRPC6 7225 broad.mit.edu 37 11 101341944 101341944 + Frame_Shift_Del DEL T T - rs144927067 TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr11:101341944delT uc001pgk.3 - 9 2804 c.2379delA c.(2377-2379)AAAfs p.K793fs TRPC6_uc009ywy.2_Frame_Shift_Del_p.K677fs|TRPC6_uc009ywz.1_Frame_Shift_Del_p.K738fs NM_004621 NP_004612 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, 793 Cytoplasmic (Potential). axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) CCTGGAAACCTTTTTTATGGC 0.393 NaN NaN NaN NaN NaN NaN 7 2377 --- --- MMP13 4322 broad.mit.edu 37 11 102825997 102825997 + Frame_Shift_Del DEL T T - TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr11:102825997delT uc001phl.2 - 2 374 c.346delA c.(346-348)ATGfs p.M116fs NM_002427 NP_002418 P45452 MMP13_HUMAN matrix metalloproteinase 13 preproprotein 116 collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) GTTAAATTCATTTTGGACCAT 0.343 NaN NaN NaN NaN NaN NaN 9 901 --- --- ATM 472 broad.mit.edu 37 11 108142128 108142129 + Frame_Shift_Ins INS - - T TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 - T - - Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr11:108142128_108142129insT uc001pkb.1 + 20 3457_3458 c.3072_3073insT c.(3070-3075)GCATTTfs p.A1024fs ATM_uc009yxr.1_Frame_Shift_Ins_p.A1024fs|ATM_uc009yxs.1_RNA NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 1024_1025 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) TAATTGGAGCATTTTGGTAGGT 0.381 NaN D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) NaN NaN NaN NaN NaN 35 250 --- --- MLL2 8085 broad.mit.edu 37 12 49433094 49433094 + Frame_Shift_Del DEL G G - TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 G - G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr12:49433094delG uc001rta.3 - 33 8277 c.8277delC c.(8275-8277)CCCfs p.P2759fs NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 2759 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 GCCCCAGGATGGGGCCACTCA 0.602 NaN N|F|Mis medulloblastoma|renal HNSCC(34;0.089) NaN NaN NaN NaN NaN 39 55 --- --- OR4N2 390429 broad.mit.edu 37 14 20296055 20296056 + Frame_Shift_Ins INS - - T rs149523724 by1000genomes TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr14:20296055_20296056insT uc010tkv.1 + 1 448_449 c.448_449insT c.(448-450)CTTfs p.L150fs NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, 150 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GGCTCTGTGGCTTGGGGGTTTT 0.53 NaN NaN NaN NaN NaN NaN 26 242 --- --- NFAT5 10725 broad.mit.edu 37 16 69681191 69681191 + Frame_Shift_Del DEL A A - TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr16:69681191delA uc002exm.1 + 3 1668 c.460delA c.(460-462)AACfs p.N154fs NFAT5_uc002exh.1_Intron|NFAT5_uc002exi.2_Frame_Shift_Del_p.N78fs|NFAT5_uc002exj.1_Frame_Shift_Del_p.N78fs|NFAT5_uc002exk.1_Frame_Shift_Del_p.N78fs|NFAT5_uc002exl.1_Frame_Shift_Del_p.N172fs|NFAT5_uc002exn.1_Frame_Shift_Del_p.N172fs NM_006599 NP_006590 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5 isoform c 154 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 CTTGCTGGATAACAGTCGGAT 0.502 NaN NaN NaN NaN NaN NaN 14 115 --- --- GAS2L2 246176 broad.mit.edu 37 17 34073205 34073206 + Frame_Shift_Ins INS - - G TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr17:34073205_34073206insG uc002hjv.1 - 6 1338_1339 c.1310_1311insC c.(1309-1311)CCAfs p.P437fs NM_139285 NP_644814 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 437 cell cycle arrest cytoplasm|cytoskeleton ovary(1)|skin(1) 2 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GGAGTCTTTGTGGGGTGGGGTT 0.599 NaN NaN NaN NaN NaN NaN 8 298 --- --- CDC27 996 broad.mit.edu 37 17 45247389 45247389 + Frame_Shift_Del DEL T T - TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr17:45247389delT uc002ild.3 - 4 398 c.271delA c.(271-273)ATCfs p.I91fs CDC27_uc002ile.3_Frame_Shift_Del_p.I91fs|CDC27_uc002ilf.3_Frame_Shift_Del_p.I91fs|CDC27_uc010wkp.1_Frame_Shift_Del_p.I30fs|CDC27_uc010wkq.1_RNA NM_001256 NP_001247 P30260 CDC27_HUMAN cell division cycle protein 27 isoform 2 91 TPR 1. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding lung(2)|breast(2)|ovary(1) 5 CCAGATAAGATTTGTTCCCCT 0.323 NaN NaN NaN NaN NaN NaN 8 232 --- --- ZNF563 147837 broad.mit.edu 37 19 12430217 12430217 + Frame_Shift_Del DEL A A - TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr19:12430217delA uc002mtp.2 - 4 860 c.622delT c.(622-624)TGGfs p.W208fs ZNF563_uc002mtq.2_Intron NM_145276 NP_660319 Q8TA94 ZN563_HUMAN zinc finger protein 563 208 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AAACTGGGCCAAAAAAAAGCT 0.393 NaN NaN NaN NaN NaN NaN 8 221 --- --- GCC2 9648 broad.mit.edu 37 2 109087883 109087884 + Frame_Shift_Ins INS - - A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr2:109087883_109087884insA uc002tec.2 + 6 2252_2253 c.2098_2099insA c.(2098-2100)GAAfs p.E700fs GCC2_uc002ted.2_Frame_Shift_Ins_p.E599fs NM_181453 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain-containing 2 700 Potential. Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding ovary(1) 1 ACTCAGTTCAGAAAAAAAACAG 0.307 NaN NaN NaN NaN NaN NaN 7 545 --- --- CABLES2 81928 broad.mit.edu 37 20 60966489 60966494 + In_Frame_Del DEL CTCCGC CTCCGC - TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr20:60966489_60966494delCTCCGC uc002ycv.2 - 9 1114_1119 c.1107_1112delGCGGAG c.(1105-1113)ATGCGGAGC>ATC p.369_371MRS>I NM_031215 NP_112492 Q9BTV7 CABL2_HUMAN Cdk5 and Abl enzyme substrate 2 369_371 cell cycle|cell division|regulation of cell cycle|regulation of cell division cyclin-dependent protein kinase regulator activity pancreas(1) 1 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) CTCCGACAGGCTCCGCATCTCCCGCT 0.636 NaN NaN NaN NaN NaN NaN 86 231 --- --- CDKN1A 1026 broad.mit.edu 37 6 36651924 36651925 + Frame_Shift_Del DEL AA AA - TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 AA - AA AA Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr6:36651924_36651925delAA uc003omm.3 + 2 168_169 c.46_47delAA c.(46-48)AAGfs p.K16fs CDKN1A_uc011dtq.1_Frame_Shift_Del_p.K50fs|CDKN1A_uc003oml.2_Frame_Shift_Del_p.K16fs|CDKN1A_uc003omn.2_Frame_Shift_Del_p.K16fs NM_000389 NP_000380 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A 16 C4-type (Potential). cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding ovary(1)|breast(1) 2 ATGCGGCAGCAAGGCCTGCCGC 0.649 NaN Multiple_Endocrine_Neoplasia_type_1 NaN NaN NaN NaN NaN 47 24 --- --- BEND6 221336 broad.mit.edu 37 6 56882036 56882037 + Frame_Shift_Ins INS - - T TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr6:56882036_56882037insT uc010kab.2 + 5 1137_1138 c.551_552insT c.(550-552)TGTfs p.C184fs BEND6_uc003pdi.3_Frame_Shift_Ins_p.C86fs NM_152731 NP_689944 Q5SZJ8 BEND6_HUMAN BEN domain containing 6 184 BEN. 0 ATTGCCCGTTGTAACAAGAGCA 0.361 NaN NaN NaN NaN NaN NaN 20 30 --- --- C6orf165 154313 broad.mit.edu 37 6 88144700 88144700 + Frame_Shift_Del DEL A A - TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr6:88144700delA uc003plv.2 + 11 1515 c.1423delA c.(1423-1425)AAAfs p.K475fs SLC35A1_uc003plx.2_5'Flank|C6orf165_uc003plw.2_Frame_Shift_Del_p.K287fs|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Frame_Shift_Del_p.K475fs NM_001031743 NP_001026913 Q8IYR0 CF165_HUMAN hypothetical protein LOC154313 isoform 1 475 central_nervous_system(1) 1 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) AGAAAAGGCCAAAAAAAATAC 0.269 NaN NaN NaN NaN NaN NaN 7 86 --- --- PHACTR2 9749 broad.mit.edu 37 6 144081695 144081696 + Frame_Shift_Ins INS - - A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr6:144081695_144081696insA uc003qjq.3 + 5 709_710 c.579_580insA c.(577-582)ATTAAAfs p.I193fs PHACTR2_uc010khh.2_Intron|PHACTR2_uc010khi.2_Frame_Shift_Ins_p.I204fs|PHACTR2_uc003qjr.3_Intron NM_014721 NP_055536 O75167 PHAR2_HUMAN phosphatase and actin regulator 2 isoform 3 193_194 actin binding|protein phosphatase inhibitor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386) TGCCTCCCATTAAAAAAAATAC 0.569 NaN NaN NaN NaN NaN NaN 8 252 --- --- SMURF1 57154 broad.mit.edu 37 7 98638102 98638103 + Frame_Shift_Ins INS - - C TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chr7:98638102_98638103insC uc003upu.1 - 14 1846_1847 c.1526_1527insG c.(1525-1527)GGCfs p.G509fs SMURF1_uc003upv.1_Frame_Shift_Ins_p.G483fs|SMURF1_uc003upt.2_Frame_Shift_Ins_p.G483fs NM_020429 NP_065162 Q9HCE7 SMUF1_HUMAN Smad ubiquitination regulatory factor 1 isoform 509 HECT. BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|plasma membrane activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity skin(2)|ovary(1)|lung(1) 4 all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224) GCACTGTGAAGCCCCCGTTGAT 0.559 NaN OREG0018189 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NaN NaN NaN NaN NaN 12 177 --- --- RHOXF2B 727940 broad.mit.edu 37 X 119293071 119293071 + Frame_Shift_Del DEL A A - TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41dea334-9fa2-4ba1-8091-a17d80d8e950 90e12daf-9cc0-48ae-a8b6-f59ff2037384 g.chrX:119293071delA uc004esl.3 + 2 420 c.230delA c.(229-231)GAAfs p.E77fs NM_001099685 NP_001093155 P0C7M4 RHF2B_HUMAN Rhox homeobox family, member 2B 77 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GGCGGAGAAGAAAAAGATGGC 0.607 NaN NaN NaN NaN NaN NaN 18 48 --- ---