Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut MASP2 10747 broad.mit.edu 37 1 11087433 11087433 + Missense_Mutation SNP T T C TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr1:11087433T>C uc001aru.2 - 11 1591 c.1570A>G c.(1570-1572)ACT>GCT p.T524A NM_006610 NP_006601 O00187 MASP2_HUMAN mannan-binding lectin serine protease 2 isoform 524 Peptidase S1. complement activation, classical pathway|complement activation, lectin pathway|proteolysis extracellular region calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity ovary(2)|pancreas(1)|skin(1) 4 Ovarian(185;0.249) Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.071) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192) GCATCATGAGTATAACCTTCA 0.398 NA 15 154 0 0 0 0 PTCHD2 57540 broad.mit.edu 37 1 11580836 11580836 + Missense_Mutation SNP A A G TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr1:11580836A>G uc001ash.3 + 10 2431 c.2293A>G c.(2293-2295)AAC>GAC p.N765D PTCHD2_uc001asi.1_Missense_Mutation_p.N765D NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN patched domain containing 2 765 Extracellular (Potential). cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity skin(3)|ovary(2)|pancreas(1)|breast(1) 7 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) GCCTGATACCAACATCCAGGT 0.642 NA 3 20 0 0 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12885059 12885059 + Missense_Mutation SNP C C G rs143004725 by1000genomes TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr1:12885059C>G uc001auk.2 - 4 1248 c.1052G>C c.(1051-1053)TGC>TCC p.C351S NM_001146344 NP_001139816 O60813 PRA11_HUMAN PRAME family member 11 351 LRR 6. 0 GGTGGCCATGCAGATGGGATT 0.532 NA 5 213 0 0 0 0 ARID1A 8289 broad.mit.edu 37 1 27100152 27100152 + Silent SNP G G A TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr1:27100152G>A uc001bmv.1 + 16 4321 c.3948G>A c.(3946-3948)TCG>TCA p.S1316S ARID1A_uc001bmt.1_Silent_p.S1315S|ARID1A_uc001bmu.1_Silent_p.S1316S|ARID1A_uc001bmw.1_Silent_p.S933S|ARID1A_uc001bmx.1_Silent_p.S162S|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 1316 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.M1318fs*163(1) ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) ACCCAGACTCGGGGATGTATT 0.507 NA Mis|N|F|S|D clear cell ovarian carcinoma|RCC 11 52 0 0 0 0 CSF3R 1441 broad.mit.edu 37 1 36937036 36937036 + Missense_Mutation SNP C C T TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr1:36937036C>T uc001caw.1 - 10 1461 c.1283G>A c.(1282-1284)AGA>AAA p.R428K CSF3R_uc001cat.1_5'Flank|CSF3R_uc009vvc.1_5'UTR|CSF3R_uc001cau.1_5'UTR|CSF3R_uc001cav.1_Missense_Mutation_p.R428K|CSF3R_uc001cax.1_Missense_Mutation_p.R428K|CSF3R_uc001cay.1_Missense_Mutation_p.R428K NM_000760 NP_000751 Q99062 CSF3R_HUMAN colony stimulating factor 3 receptor isoform a 428 Extracellular (Potential). cell adhesion|defense response extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|ovary(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) Filgrastim(DB00099)|Pegfilgrastim(DB00019) CCCTTTACCTCTGCTTTCTGA 0.368 NA 15 146 0 0 0 0 ZNHIT6 54680 broad.mit.edu 37 1 86173364 86173364 + Missense_Mutation SNP C C T TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr1:86173364C>T uc001dlh.2 - 1 738 c.604G>A c.(604-606)GAG>AAG p.E202K ZNHIT6_uc010osc.1_Missense_Mutation_p.E163K NM_017953 NP_060423 Q9NWK9 BCD1_HUMAN zinc finger, HIT type 6 202 Glu-rich. box C/D snoRNP assembly|ribosome biogenesis pre-snoRNP complex identical protein binding|metal ion binding large_intestine(1) 1 ATCGGAGGCTCTTCTTTCACC 0.463 NA 8 153 0 0 0 0 RPRD2 23248 broad.mit.edu 37 1 150416840 150416840 + Silent SNP C C G TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr1:150416840C>G uc009wlr.2 + 6 882 c.681C>G c.(679-681)CTC>CTG p.L227L RPRD2_uc010pcc.1_Silent_p.L201L|RPRD2_uc001eup.3_Silent_p.L201L NM_015203 NP_056018 Q5VT52 RPRD2_HUMAN Regulation of nuclear pre-mRNA domain containing 227 protein binding ovary(1) 1 CAGAAACTCTCAAATGCTTAA 0.383 NA 3 60 0 0 0 0 IDI1 3422 broad.mit.edu 37 10 1087328 1087328 + Missense_Mutation SNP C C G TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr10:1087328C>G uc001iga.2 - 5 772 c.654G>C c.(652-654)TTG>TTC p.L218F C10orf110_uc010qaf.1_Intron|C10orf110_uc001ifx.3_Intron|C10orf110_uc001ifw.3_Intron|C10orf110_uc001ify.3_Intron|IDI1_uc001ifz.2_Missense_Mutation_p.L162F|IDI1_uc001igb.2_RNA|IDI1_uc001igc.2_Missense_Mutation_p.L162F NM_004508 NP_004499 Q13907 IDI1_HUMAN isopentenyl-diphosphate delta isomerase 161 Nudix hydrolase. carotenoid biosynthetic process|cholesterol biosynthetic process cytosol|peroxisome hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding 0 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.221) Epithelial(11;0.0972) GATCTGGATTCAAAGTTACAT 0.343 NA 20 50 0 0 0 0 C10orf71 118461 broad.mit.edu 37 10 50531131 50531131 + Missense_Mutation SNP G G C TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr10:50531131G>C uc010qgp.1 + 3 880 c.541G>C c.(541-543)GAA>CAA p.E181Q NM_199459 NP_955629 Q711Q0 CJ071_HUMAN hypothetical protein LOC118461 isoform 2 181 0 TCCTCTTCCAGAAAACAGTGT 0.532 NA 11 28 0 0 0 0 PTEN 5728 broad.mit.edu 37 10 89692805 89692805 + Nonsense_Mutation SNP C C T TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr10:89692805C>T uc001kfb.2 + 6 1320 c.289C>T c.(289-291)CAG>TAG p.Q97* NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 97 Phosphatase 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.R55fs*1(4)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.H93fs*5(1)|p.F56fs*2(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) TAACCCACCACAGCTAGAACT 0.363 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) 28 64 0 0 0 0 APOA5 116519 broad.mit.edu 37 11 116661095 116661095 + Nonsense_Mutation SNP G G A TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr11:116661095G>A uc001ppr.2 - 3 858 c.850C>T c.(850-852)CGA>TGA p.R284* ZNF259_uc001ppp.2_5'Flank|ZNF259_uc009yzd.2_5'Flank|ZNF259_uc001ppq.2_5'Flank|APOA5_uc009yze.2_Nonsense_Mutation_p.R284*|APOA5_uc009yzf.2_Nonsense_Mutation_p.R284*|APOA5_uc009yzg.2_Nonsense_Mutation_p.R310* NM_052968 NP_443200 Q6Q788 APOA5_HUMAN apolipoprotein AV precursor 284 acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding 0 all_hematologic(175;0.0487) all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149) GCCTGAAGTCGCTGGCGCACC 0.662 NA 8 61 0 0 0 0 MLL 4297 broad.mit.edu 37 11 118375875 118375875 + Missense_Mutation SNP C C T TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr11:118375875C>T uc001pta.2 + 27 9282 c.9259C>T c.(9259-9261)CCA>TCA p.P3087S MLL_uc001ptb.2_Missense_Mutation_p.P3090S NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3087 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) GAACATGCAGCCACTTTATGT 0.468 NA T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 17 137 0 0 0 0 NCAPD3 23310 broad.mit.edu 37 11 134038398 134038398 + Silent SNP G G A TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr11:134038398G>A uc001qhd.1 - 26 3945 c.3339C>T c.(3337-3339)TTC>TTT p.F1113F NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA|NCAPD3_uc001qhc.1_Silent_p.F63F NM_015261 NP_056076 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 1113 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 5 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) AAGTGATGTTGAATCGCTGTT 0.403 NA 5 59 0 0 0 0 AVPR1A 552 broad.mit.edu 37 12 63541189 63541189 + Missense_Mutation SNP C C T TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr12:63541189C>T uc001sro.1 - 2 3181 c.1207G>A c.(1207-1209)GAC>AAC p.D403N NM_000706 NP_000697 P37288 V1AR_HUMAN arginine vasopressin receptor 1A 403 Cytoplasmic (Potential). activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity 0 BRCA - Breast invasive adenocarcinoma(9;0.193) GBM - Glioblastoma multiforme(28;0.0569) Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067) TTAGGCGAGTCCTTCCACATA 0.383 NA 7 104 0 0 0 0 SETD8 387893 broad.mit.edu 37 12 123875278 123875278 + Missense_Mutation SNP T T G TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr12:123875278T>G uc001uew.2 + 3 276 c.234T>G c.(232-234)CAT>CAG p.H78Q SETD8_uc001uex.2_Missense_Mutation_p.H13Q NM_020382 NP_065115 Q9NQR1 SETD8_HUMAN SET domain-containing 8 119 cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent chromosome|nucleus histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425) CAGTTACACATCACGAAGTCA 0.478 NA 4 48 0 0 0 0 ATP11A 23250 broad.mit.edu 37 13 113479843 113479843 + Silent SNP G G A TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr13:113479843G>A uc001vsi.3 + 11 1060 c.972G>A c.(970-972)CGG>CGA p.R324R ATP11A_uc001vsj.3_Silent_p.R324R|ATP11A_uc001vsm.1_Silent_p.R200R NM_015205 NP_056020 P98196 AT11A_HUMAN ATPase, class VI, type 11A isoform a 324 Extracellular (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity large_intestine(2)|ovary(2) 4 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) AGCCCTTTCGGGATGAGCCGT 0.488 NA 11 43 0 0 0 0 FOXG1 2290 broad.mit.edu 37 14 29237514 29237514 + Silent SNP C C T TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr14:29237514C>T uc001wqe.2 + 1 1228 c.1029C>T c.(1027-1029)TCC>TCT p.S343S NM_005249 NP_005240 P55316 FOXG1_HUMAN forkhead box G1 343 axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(2)|lung(2) 4 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) CCTACAGCTCCGTGTTGACTC 0.652 NA 18 125 0 0 0 0 FAM71D 161142 broad.mit.edu 37 14 67671543 67671543 + Missense_Mutation SNP C C T TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr14:67671543C>T uc001xja.1 + 5 903 c.649C>T c.(649-651)CCG>TCG p.P217S FAM71D_uc010aqn.1_RNA NM_173526 NP_775797 Q8N9W8 FA71D_HUMAN hypothetical protein LOC161142 217 ovary(1) 1 all_hematologic(31;0.0116) all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012) CATCCTGACCCCGTACATGTA 0.498 NA 5 113 0 0 0 0 AP4E1 23431 broad.mit.edu 37 15 51223158 51223158 + Missense_Mutation SNP G G C TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr15:51223158G>C uc001zyx.1 + 7 889 c.859G>C c.(859-861)GAT>CAT p.D287H AP4E1_uc010ufi.1_Missense_Mutation_p.D287H|AP4E1_uc010ufj.1_RNA|AP4E1_uc010ufk.1_RNA NM_007347 NP_031373 Q9UPM8 AP4E1_HUMAN adaptor-related protein complex 4, epsilon 1 287 intracellular protein transport|vesicle-mediated transport COPI vesicle coat binding|structural molecule activity 0 all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364) TCTAGGAAAAGATGATCAAAG 0.388 NA 3 104 0 0 0 0 HERC1 8925 broad.mit.edu 37 15 63978682 63978682 + Missense_Mutation SNP G G A TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr15:63978682G>A uc002amp.2 - 34 6249 c.6101C>T c.(6100-6102)TCC>TTC p.S2034F NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 2034 B30.2/SPRY. protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 CGGGTCAAAGGATACTTCTTG 0.453 NA 23 173 0 0 0 0 C15orf27 123591 broad.mit.edu 37 15 76449066 76449066 + Missense_Mutation SNP C C G TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr15:76449066C>G uc002bbq.2 + 4 504 c.349C>G c.(349-351)CTG>GTG p.L117V C15orf27_uc010bkp.2_Intron|C15orf27_uc002bbr.2_Intron NM_152335 NP_689548 Q2M3C6 CO027_HUMAN hypothetical protein LOC123591 117 Helical; (Potential). integral to membrane 0 TCTCCTGACTCTGGAACTTCT 0.423 NA 4 43 0 0 0 0 VWA3A 146177 broad.mit.edu 37 16 22161162 22161162 + Silent SNP G G A TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr16:22161162G>A uc010vbq.1 + 29 3135 c.3039G>A c.(3037-3039)GTG>GTA p.V1013V VWA3A_uc010bxd.2_RNA|VWA3A_uc002dkg.3_Silent_p.V91V|VWA3A_uc010bxe.1_Silent_p.V115V NM_173615 NP_775886 A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 1013 VWFA 2. extracellular region skin(1) 1 GBM - Glioblastoma multiforme(48;0.0439) ACACGCTGGTGGAGACCACAG 0.557 NA 5 14 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578263 7578263 + Nonsense_Mutation SNP G G A TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr17:7578263G>A uc002gim.2 - 6 780 c.586C>T c.(586-588)CGA>TGA p.R196* TP53_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.2_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.1_Nonsense_Mutation_p.R157* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 196 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R196*(125)|p.R196P(12)|p.0?(7)|p.R196R(5)|p.R196fs*51(4)|p.A189_V197delAPPQHLIRV(4)|p.R196Q(3)|p.K164_P219del(1)|p.R196L(1)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.R64*(1)|p.I195fs*12(1)|p.R103*(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCTTCCACTCGGATAAGATGC 0.552 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 4 34 0 0 0 0 DNAH9 1770 broad.mit.edu 37 17 11757554 11757554 + Missense_Mutation SNP C C T TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr17:11757554C>T uc002gne.2 + 50 9810 c.9742C>T c.(9742-9744)CCC>TCC p.P3248S DNAH9_uc010coo.2_Missense_Mutation_p.P2542S NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 3248 Stalk (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TCTGCAAGACCCCGAGTTCAA 0.488 NA 13 157 0 0 0 0 SSH2 85464 broad.mit.edu 37 17 27958010 27958010 + Missense_Mutation SNP A A T TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr17:27958010A>T uc002heo.1 - 15 4121 c.4121T>A c.(4120-4122)GTG>GAG p.V1374E SSH2_uc010wbh.1_Missense_Mutation_p.V1401E NM_033389 NP_203747 Q76I76 SSH2_HUMAN slingshot 2 1374 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity skin(2) 2 GGTCTGTAGCACGGGAAGGCC 0.567 NA 10 70 0 0 0 0 BECN1 8678 broad.mit.edu 37 17 40968043 40968043 + Missense_Mutation SNP C C T TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr17:40968043C>T uc002ibo.3 - 8 848 c.713G>A c.(712-714)CGA>CAA p.R238Q BECN1_uc010whb.1_Missense_Mutation_p.R151Q|BECN1_uc010whc.1_Missense_Mutation_p.R162Q|BECN1_uc002ibn.2_Missense_Mutation_p.R238Q NM_003766 NP_003757 Q14457 BECN1_HUMAN beclin 1 238 Potential. anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus membrane protein binding ovary(1) 1 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0745) CAGCTGCTGTCGTTTAAATTC 0.473 NA 7 90 0 0 0 0 MAP3K14 9020 broad.mit.edu 37 17 43351864 43351864 + Missense_Mutation SNP G G A TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr17:43351864G>A uc002iiw.1 - 8 1496 c.1387C>T c.(1387-1389)CCT>TCT p.P463S MAP3K14_uc002iiu.1_5'Flank|MAP3K14_uc010daj.1_RNA|MAP3K14_uc002iiv.1_Missense_Mutation_p.P47S NM_003954 NP_003945 Q99558 M3K14_HUMAN mitogen-activated protein kinase kinase kinase 463 Interaction with ZFP91.|Protein kinase. cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation cytosol ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding central_nervous_system(3)|breast(2)|lung(1)|ovary(1)|stomach(1) 8 TTGACCCAAGGCCCTTCTCTC 0.547 NA 5 29 0 0 0 0 SPATA20 64847 broad.mit.edu 37 17 48631733 48631733 + Silent SNP C C T rs147637130 byFrequency TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr17:48631733C>T uc002irf.2 + 14 2172 c.2031C>T c.(2029-2031)TCC>TCT p.S677S SPATA20_uc002irc.2_Silent_p.S344S|SPATA20_uc002ire.2_Silent_p.S633S|SPATA20_uc002ird.2_Silent_p.S693S|SPATA20_uc002irg.2_RNA NM_022827 NP_073738 Q8TB22 SPT20_HUMAN spermatogenesis associated 20 677 cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis extracellular region mannose-6-phosphate isomerase activity|protein binding 0 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;9.38e-09) CCGCCTTTTCCGAGCGCATGC 0.647 NA 11 99 0 0 0 0 MFSD11 79157 broad.mit.edu 37 17 74740437 74740437 + Missense_Mutation SNP C C T TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr17:74740437C>T uc002jta.2 + 8 1503 c.530C>T c.(529-531)ACG>ATG p.T177M MFSD11_uc002jtb.2_Missense_Mutation_p.T177M|MFSD11_uc010dha.2_Missense_Mutation_p.T125M|MFSD11_uc002jtc.2_Missense_Mutation_p.T177M|MFSD11_uc002jtd.3_Missense_Mutation_p.T177M|MFSD11_uc010dhb.2_Missense_Mutation_p.T125M|MFSD11_uc002jte.2_Missense_Mutation_p.T177M NM_024311 NP_077287 O43934 MFS11_HUMAN major facilitator superfamily domain containing 177 Helical; (Potential). integral to membrane ovary(1) 1 ATTGCCCTAACGGTGATTAGC 0.413 NA 10 80 0 0 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14799113 14799113 + Missense_Mutation SNP T T A TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr18:14799113T>A uc010dlo.2 + 21 2223 c.2043T>A c.(2041-2043)AAT>AAA p.N681K ANKRD30B_uc010xak.1_RNA NM_001145029 NP_001138501 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ovary(1)|skin(1) 2 CTCCTGATAATGATGGTCTTC 0.284 NA 4 35 0 0 0 0 KEAP1 9817 broad.mit.edu 37 19 10610205 10610205 + Missense_Mutation SNP G G A TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr19:10610205G>A uc002moq.1 - 2 661 c.505C>T c.(505-507)CGT>TGT p.R169C KEAP1_uc002mor.1_Missense_Mutation_p.R169C NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 169 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) CTGCAGGCACGGACAACGCTG 0.582 NA 6 64 0 0 0 0 ZNF208 7757 broad.mit.edu 37 19 22155346 22155346 + Silent SNP T T C TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr19:22155346T>C uc002nqp.2 - 5 2339 c.2190A>G c.(2188-2190)GAA>GAG p.E730E ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) TGTAGGGCTTTTCTCCAGCAT 0.373 NA 3 115 0 0 0 0 FXYD5 53827 broad.mit.edu 37 19 35660502 35660502 + Missense_Mutation SNP G G T TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr19:35660502G>T uc002nyg.1 + 9 607 c.521G>T c.(520-522)CGG>CTG p.R174L FXYD5_uc002nyh.1_Missense_Mutation_p.R174L|FXYD5_uc002nyi.1_Missense_Mutation_p.R111L|FXYD5_uc002nyj.1_RNA NM_014164 NP_054883 Q96DB9 FXYD5_HUMAN FXYD domain-containing ion transport regulator 5 174 Cytoplasmic (Potential). microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion integral to membrane actin binding|cadherin binding|ion channel activity 0 all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221) CGGTTATGCCGGAATCGTTGC 0.562 NA 6 33 1.07e-07 1.2e-06 1 0 ZNF845 91664 broad.mit.edu 37 19 53855452 53855452 + Silent SNP A A G TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr19:53855452A>G uc010ydv.1 + 4 1641 c.1524A>G c.(1522-1524)TCA>TCG p.S508S ZNF845_uc010ydw.1_Silent_p.S508S NM_138374 NP_612383 Q96IR2 ZN845_HUMAN zinc finger protein 845 508 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GTTTCAAATCAAACCTTGAAA 0.388 NA 4 65 0 0 0 0 LILRB2 10288 broad.mit.edu 37 19 54783667 54783667 + Missense_Mutation SNP G G A TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr19:54783667G>A uc002qfb.2 - 4 600 c.334C>T c.(334-336)CCC>TCC p.P112S LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.P112S|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.P112S|LILRB2_uc010yet.1_5'UTR|LILRB2_uc010yeu.1_RNA NM_005874 NP_005865 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, 112 Extracellular (Potential).|Ig-like C2-type 2. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity skin(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) AGCACCAGGGGGTCACTGAGC 0.607 NA 5 76 0 0 0 0 C2orf16 84226 broad.mit.edu 37 2 27801709 27801709 + Missense_Mutation SNP G G A TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr2:27801709G>A uc002rkz.3 + 1 2321 c.2270G>A c.(2269-2271)GGG>GAG p.G757E NM_032266 NP_115642 Q68DN1 CB016_HUMAN hypothetical protein LOC84226 757 large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) TGGGATTCTGGGATACAGGAA 0.418 NA 11 144 0 0 0 0 NMS 129521 broad.mit.edu 37 2 101097598 101097598 + Missense_Mutation SNP C C T TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr2:101097598C>T uc002tan.1 + 8 390 c.383C>T c.(382-384)GCG>GTG p.A128V NM_001011717 NP_001011717 Q5H8A3 NMS_HUMAN neuromedin S precursor 128 neuropeptide signaling pathway|regulation of smooth muscle contraction extracellular region ovary(1) 1 GATCACACTGCGACCTGGGGA 0.393 NA 9 142 0 0 0 0 SCN9A 6335 broad.mit.edu 37 2 167142859 167142859 + Missense_Mutation SNP G G A TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr2:167142859G>A uc010fpl.2 - 11 1930 c.1589C>T c.(1588-1590)TCT>TTT p.S530F uc002udp.2_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.S401F|SCN9A_uc002uds.1_Missense_Mutation_p.S401F|SCN9A_uc002udt.1_Missense_Mutation_p.S401F NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 530 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) ATTGGGGGTAGACAACCTCTT 0.448 NA 23 277 0 0 0 0 CASP10 843 broad.mit.edu 37 2 202093772 202093772 + Missense_Mutation SNP G G A rs151011448 TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr2:202093772G>A uc002uxl.1 + 10 1950 c.1532G>A c.(1531-1533)CGA>CAA p.R511Q CASP10_uc002uxm.1_Missense_Mutation_p.R468Q NM_032974 NP_116756 Q92851 CASPA_HUMAN caspase 10 isoform b preproprotein 511 apoptosis|induction of apoptosis by extracellular signals|proteolysis cytosol|plasma membrane cysteine-type endopeptidase activity|identical protein binding|protein binding skin(3)|ovary(1)|pancreas(1)|breast(1) 6 CAGACACCTCGACCCCCCATG 0.567 NA 11 147 0 0 0 0 SULF2 55959 broad.mit.edu 37 20 46291926 46291926 + Missense_Mutation SNP T T C TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr20:46291926T>C uc002xto.2 - 17 2588 c.2258A>G c.(2257-2259)AAC>AGC p.N753S SULF2_uc002xtr.2_Missense_Mutation_p.N753S|SULF2_uc002xtq.2_Missense_Mutation_p.N753S|SULF2_uc010zyd.1_Missense_Mutation_p.N32S NM_018837 NP_061325 Q8IWU5 SULF2_HUMAN sulfatase 2 isoform a precursor 753 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding ovary(2)|breast(2)|pancreas(1)|skin(1) 6 CGTGTTATTGTTGGCGCTGGT 0.517 NA OREG0026005 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 53 0 0 0 0 MRPL39 54148 broad.mit.edu 37 21 26961175 26961175 + Missense_Mutation SNP T T C TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr21:26961175T>C uc002ylo.2 - 9 955 c.941A>G c.(940-942)GAT>GGT p.D314G MRPL39_uc002yln.2_Missense_Mutation_p.D314G NM_017446 NP_059142 Q9NYK5 RM39_HUMAN mitochondrial ribosomal protein L39 isoform a 314 mitochondrial ribosome nucleotide binding 0 CAATAGCTTATCCCATATTGT 0.303 NA 14 226 0 0 0 0 C21orf29 54084 broad.mit.edu 37 21 45948404 45948404 + Missense_Mutation SNP A A G TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr21:45948404A>G uc002zfe.1 - 6 919 c.853T>C c.(853-855)TTC>CTC p.F285L C21orf29_uc010gpv.1_Missense_Mutation_p.F217L NM_144991 NP_659428 Q8WU66 TSEAR_HUMAN chromosome 21 open reading frame 29 precursor 285 cell adhesion extracellular region structural molecule activity 0 TCAAACCAGAACTGGGCGTCT 0.602 NA 13 66 0 0 0 0 CADPS 8618 broad.mit.edu 37 3 62578331 62578331 + Missense_Mutation SNP T T C TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr3:62578331T>C uc003dll.2 - 7 1778 c.1418A>G c.(1417-1419)GAG>GGG p.E473G CADPS_uc003dlm.2_Missense_Mutation_p.E473G|CADPS_uc003dln.2_Missense_Mutation_p.E473G NM_003716 NP_003707 Q9ULU8 CAPS1_HUMAN Ca2+-dependent secretion activator isoform 1 473 C2. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding central_nervous_system(2)|ovary(1) 3 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) CTCCTTGTCCTCCAACGCCAG 0.562 NA 3 86 0 0 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64582598 64582598 + Missense_Mutation SNP C C T TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr3:64582598C>T uc003dmg.2 - 27 4119 c.4087G>A c.(4087-4089)GCA>ACA p.A1363T ADAMTS9_uc011bfo.1_Missense_Mutation_p.A1335T|ADAMTS9_uc003dmh.1_Missense_Mutation_p.A1192T|ADAMTS9_uc011bfp.1_Missense_Mutation_p.A274T NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 1363 TSP type-1 9. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|urinary_tract(1)|skin(1) 4 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) CAGTCGTTTGCGGTGTATCCA 0.507 NA 12 69 0 0 0 0 CNTN3 5067 broad.mit.edu 37 3 74350658 74350658 + Silent SNP T T A TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr3:74350658T>A uc003dpm.1 - 15 2066 c.1986A>T c.(1984-1986)GTA>GTT p.V662V NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 662 Fibronectin type-III 1. cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) TTAACTCAACTACAGTGGCTG 0.433 NA 8 76 0 0 0 0 TRH 7200 broad.mit.edu 37 3 129695951 129695951 + Silent SNP C C T TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr3:129695951C>T uc003enc.2 + 3 1182 c.621C>T c.(619-621)GGC>GGT p.G207G NM_007117 NP_009048 P20396 TRH_HUMAN thyrotropin-releasing hormone 207 cell-cell signaling|hormone-mediated signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|thyrotropin-releasing hormone activity ovary(1) 1 GTCAAGCGGGCCTTCTGCTGG 0.622 NA 6 37 0 0 0 0 COL6A6 131873 broad.mit.edu 37 3 130281957 130281957 + Missense_Mutation SNP G G A TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr3:130281957G>A uc010htl.2 + 2 141 c.110G>A c.(109-111)CGC>CAC p.R37H NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 37 Nonhelical region.|VWFA 1. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 AGCTCTGATCGCCTGGGATCC 0.458 NA 14 180 0 0 0 0 COPB2 9276 broad.mit.edu 37 3 139078167 139078167 + Missense_Mutation SNP G G A TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr3:139078167G>A uc003etf.3 - 18 2378 c.2248C>T c.(2248-2250)CGG>TGG p.R750W COPB2_uc011bmv.1_Missense_Mutation_p.R721W|COPB2_uc010hui.2_Missense_Mutation_p.R721W NM_004766 NP_004757 P35606 COPB2_HUMAN coatomer protein complex, subunit beta 2 (beta 750 WD 9. COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity ovary(2) 2 TCTGGCAGCCGTCCAGTTCTA 0.393 NA 15 113 0 0 0 0 GFM1 85476 broad.mit.edu 37 3 158402350 158402350 + Missense_Mutation SNP G G C TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr3:158402350G>C uc003fce.2 + 15 1909 c.1802G>C c.(1801-1803)GGT>GCT p.G601A GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_Missense_Mutation_p.G532A NM_024996 NP_079272 Q96RP9 EFGM_HUMAN G elongation factor, mitochondrial 1 precursor 601 mitochondrial translational elongation mitochondrion GTP binding|GTPase activity|translation elongation factor activity ovary(3)|central_nervous_system(1) 4 Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043) CCTCTTTCTGGTCACAAGCTC 0.458 NA 11 80 0 0 0 0 KIAA0226 9711 broad.mit.edu 37 3 197402348 197402348 + Silent SNP C C T TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr3:197402348C>T uc003fyc.2 - 19 2868 c.2685G>A c.(2683-2685)CAG>CAA p.Q895Q KIAA0226_uc003fyd.3_Silent_p.Q850Q|MIR922_hsa-mir-922|MI0005714_5'Flank NM_014687 NP_055502 Q92622 RUBIC_HUMAN hypothetical protein LOC9711 isoform 2. 895 Cys-rich. autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding 0 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) CATCCTCATTCTGACAGAACT 0.547 NA 21 188 0 0 0 0 SORBS2 8470 broad.mit.edu 37 4 186545502 186545502 + Missense_Mutation SNP C C T TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr4:186545502C>T uc003iyl.2 - 13 1927 c.1069G>A c.(1069-1071)GGC>AGC p.G357S SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Missense_Mutation_p.G457S|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Missense_Mutation_p.G261S|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Missense_Mutation_p.G471S|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron NM_021069 NP_066547 O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 isoform 2 357 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(1) 1 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) ATTTGCCAGCCGTTCTTGAAA 0.517 NA 5 71 0 0 0 0 FYB 2533 broad.mit.edu 37 5 39134377 39134377 + Missense_Mutation SNP G G T TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr5:39134377G>T uc003jls.2 - 8 1817 c.1750C>A c.(1750-1752)CCT>ACT p.P584T FYB_uc003jlt.2_Missense_Mutation_p.P584T|FYB_uc003jlu.2_Missense_Mutation_p.P584T|FYB_uc011cpl.1_Missense_Mutation_p.P594T NM_199335 NP_955367 O15117 FYB_HUMAN FYN binding protein (FYB-120/130) isoform 2 584 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding p.P584L(1) ovary(2) 2 all_lung(31;0.000343) Epithelial(62;0.235) GGTCTTGAAGGGGCACCAAGA 0.358 NA 20 142 2.28e-05 0.000251211 1 0 SPATA9 83890 broad.mit.edu 37 5 95018550 95018550 + Missense_Mutation SNP G G C TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr5:95018550G>C uc003klj.1 - 1 165 c.9C>G c.(7-9)ATC>ATG p.I3M SPATA9_uc010jbh.1_RNA|SPATA9_uc003klh.1_RNA|SPATA9_uc003kli.1_RNA NM_031952 NP_114158 Q9BWV2 SPAT9_HUMAN spermatogenesis associated 9 3 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane 0 all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198) all cancers(79;8.91e-16) CAACAGGTTTGATTGGCATGG 0.463 NA 7 60 0 0 0 0 C5orf30 90355 broad.mit.edu 37 5 102612013 102612013 + Silent SNP A A G TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr5:102612013A>G uc003kog.1 + 3 662 c.393A>G c.(391-393)CCA>CCG p.P131P C5orf30_uc003koh.1_Silent_p.P131P NM_033211 NP_149988 Q96GV9 CE030_HUMAN hypothetical protein LOC90355 131 0 all_cancers(142;2.22e-05)|all_epithelial(76;9.54e-08)|Prostate(80;0.0174)|Colorectal(57;0.0551)|Ovarian(225;0.11)|Lung NSC(167;0.136)|all_lung(232;0.18) Epithelial(69;2.84e-14)|COAD - Colon adenocarcinoma(37;0.00762) GGCGGATGCCAAGCTCAGGAG 0.498 NA 3 46 0 0 0 0 FAT2 2196 broad.mit.edu 37 5 150924339 150924339 + Nonsense_Mutation SNP G G A TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr5:150924339G>A uc003lue.3 - 9 6362 c.6349C>T c.(6349-6351)CGA>TGA p.R2117* GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 2117 Extracellular (Potential).|Cadherin 18. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGGTCAATTCGGAAATATGTG 0.428 NA 10 114 0 0 0 0 STK10 6793 broad.mit.edu 37 5 171520515 171520515 + Silent SNP C C T TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr5:171520515C>T uc003mbo.1 - 9 1755 c.1455G>A c.(1453-1455)TCG>TCA p.S485S NM_005990 NP_005981 O94804 STK10_HUMAN serine/threonine kinase 10 485 ATP binding|protein serine/threonine kinase activity ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1) 8 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TGCTGCAGTCCGAGTCCCTCT 0.607 NA 13 134 0 0 0 0 KIAA0319 9856 broad.mit.edu 37 6 24596202 24596202 + Missense_Mutation SNP C C G TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr6:24596202C>G uc011djo.1 - 3 937 c.700G>C c.(700-702)GTG>CTG p.V234L KIAA0319_uc011djp.1_Missense_Mutation_p.V189L|KIAA0319_uc003neh.1_Missense_Mutation_p.V234L|KIAA0319_uc011djq.1_Missense_Mutation_p.V225L|KIAA0319_uc011djr.1_Missense_Mutation_p.V234L NM_014809 NP_055624 Q5VV43 K0319_HUMAN KIAA0319 precursor 234 Extracellular (Potential). negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding ovary(1)|skin(1) 2 GGAAGCAACACACTTCTCTCA 0.542 NA 3 69 0 0 0 0 TNXB 7148 broad.mit.edu 37 6 32032668 32032668 + Silent SNP C C T TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr6:32032668C>T uc003nzl.2 - 19 6973 c.6771G>A c.(6769-6771)AAG>AAA p.K2257K NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 2329 Fibronectin type-III 15. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 TCATCTTGTACTTGTGGTCTG 0.627 NA 4 38 0 0 0 0 PKHD1 5314 broad.mit.edu 37 6 51920457 51920457 + Silent SNP G G A TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr6:51920457G>A uc003pah.1 - 19 2040 c.1764C>T c.(1762-1764)CTC>CTT p.L588L PKHD1_uc003pai.2_Silent_p.L588L NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 588 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) GAGGCTGACGGAGGCTGAACC 0.552 NA 4 49 0 0 0 0 C6orf204 387119 broad.mit.edu 37 6 118812962 118812962 + Missense_Mutation SNP C C G TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr6:118812962C>G uc003pxz.1 - 6 1912 c.1324G>C c.(1324-1326)GGG>CGG p.G442R C6orf204_uc003pya.1_Missense_Mutation_p.G445R|C6orf204_uc003pyb.2_Missense_Mutation_p.G442R|C6orf204_uc011ebj.1_Missense_Mutation_p.G340R|C6orf204_uc003pyc.2_Missense_Mutation_p.G445R NM_001042475 NP_001035940 Q5SZL2 CF204_HUMAN chromosome 6 open reading frame 204 isoform a 442 Potential. centrosome breast(1) 1 all_cancers(87;0.0814)|all_epithelial(87;0.115) GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618) TCAAATTCCCCTTGTTGGGAA 0.373 NA 4 47 0 0 0 0 LAMA2 3908 broad.mit.edu 37 6 129641784 129641784 + Missense_Mutation SNP C C T TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr6:129641784C>T uc003qbn.2 + 28 4265 c.4160C>T c.(4159-4161)TCT>TTT p.S1387F LAMA2_uc003qbo.2_Missense_Mutation_p.S1387F NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 1387 Laminin EGF-like 14; second part. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CTGGGCTATTCTGGCCTGTCC 0.443 NA 4 31 0 0 0 0 BBS9 27241 broad.mit.edu 37 7 33185888 33185888 + Silent SNP T T C TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr7:33185888T>C uc003tdn.1 + 2 537 c.24T>C c.(22-24)GAT>GAC p.D8D BBS9_uc003tdo.1_Silent_p.D8D|BBS9_uc003tdp.1_Silent_p.D8D|BBS9_uc003tdq.1_Silent_p.D8D|BBS9_uc010kwn.1_RNA|BBS9_uc011kan.1_Silent_p.D8D NM_198428 NP_940820 Q3SYG4 PTHB1_HUMAN parathyroid hormone-responsive B1 isoform 2 8 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GBM - Glioblastoma multiforme(11;0.0894) AAGCCCGTGATTGGTGGTCTA 0.323 NA Bardet-Biedl_syndrome 7 56 0 0 0 0 ADCY1 107 broad.mit.edu 37 7 45717468 45717468 + Missense_Mutation SNP C C T rs143601874 TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr7:45717468C>T uc003tne.3 + 9 1624 c.1606C>T c.(1606-1608)CGG>TGG p.R536W NM_021116 NP_066939 Q08828 ADCY1_HUMAN adenylate cyclase 1 536 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) ATGGCTCCAGCGGAGGGCATT 0.502 NA 11 82 0 0 0 0 PION 54103 broad.mit.edu 37 7 76940734 76940734 + Missense_Mutation SNP C C T TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr7:76940734C>T uc003ugf.2 - 31 2585 c.2506G>A c.(2506-2508)GAT>AAT p.D836N PION_uc011kgo.1_Missense_Mutation_p.D157N|PION_uc003ugd.2_Missense_Mutation_p.D230N NM_017439 NP_059135 A4D1B5 GSAP_HUMAN pigeon homolog 836 beta-amyloid formation|regulation of proteolysis trans-Golgi network beta-amyloid binding central_nervous_system(1) 1 AATTCTGCATCCACATTGTCA 0.428 NA 5 53 0 0 0 0 C7orf63 79846 broad.mit.edu 37 7 89915641 89915641 + Silent SNP C C G TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr7:89915641C>G uc010lep.2 + 14 1835 c.1584C>G c.(1582-1584)GCC>GCG p.A528A C7orf63_uc003ukf.2_RNA|C7orf63_uc003ukg.2_Silent_p.A203A|C7orf63_uc011khj.1_Silent_p.A510A|C7orf63_uc011khk.1_Silent_p.A90A NM_001039706 NP_001034795 A5D8W1 CG063_HUMAN hypothetical protein LOC79846 isoform 1 528 binding ovary(1) 1 AGGAAGAAGCCATTGTTTTGG 0.318 NA 5 52 0 0 0 0 SAMD9 54809 broad.mit.edu 37 7 92731813 92731813 + Missense_Mutation SNP C C T TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr7:92731813C>T uc003umf.2 - 3 3854 c.3598G>A c.(3598-3600)GAG>AAG p.E1200K SAMD9_uc003umg.2_Missense_Mutation_p.E1200K NM_017654 NP_060124 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1200 cytoplasm ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) ACTTCTATCTCTCCTTGATAA 0.338 NA 17 125 0 0 0 0 TAS2R40 259286 broad.mit.edu 37 7 142919246 142919246 + Silent SNP C C T TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr7:142919246C>T uc011ksx.1 + 1 75 c.75C>T c.(73-75)TCC>TCT p.S25S NM_176882 NP_795363 P59535 T2R40_HUMAN taste receptor, type 2, member 40 25 Helical; Name=1; (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity ovary(1) 1 Melanoma(164;0.059) TGGTGGTCTCCGGAATAGAGT 0.517 NA 11 80 0 0 0 0 CSPP1 79848 broad.mit.edu 37 8 68007559 68007559 + Missense_Mutation SNP G G A TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr8:68007559G>A uc003xxi.2 + 8 678 c.647G>A c.(646-648)GGT>GAT p.G216D CSPP1_uc003xxg.1_Missense_Mutation_p.G208D|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.G181D|CSPP1_uc003xxk.2_5'UTR NM_001077204 NP_001070672 Q1MSJ5 CSPP1_HUMAN centrosome spindle pole associated protein 1 216 centrosome|microtubule|spindle ovary(3)|breast(2) 5 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) AAACCTATTGGTCAAGTTAAG 0.328 NA 14 71 0 0 0 0 TMEM70 54968 broad.mit.edu 37 8 74893475 74893475 + Missense_Mutation SNP A A C TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr8:74893475A>C uc003yab.2 + 3 489 c.402A>C c.(400-402)GAA>GAC p.E134D TMEM70_uc003yac.2_3'UTR NM_017866 NP_060336 Q9BUB7 TMM70_HUMAN transmembrane protein 70 isoform a 134 mitochondrial proton-transporting ATP synthase complex assembly integral to mitochondrial membrane|mitochondrial inner membrane ovary(1) 1 Breast(64;0.0311) Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564) CTATTTCTGAAAGTGTGCCTC 0.373 NA 26 83 0 0 0 0 KCNQ3 3786 broad.mit.edu 37 8 133152401 133152401 + Missense_Mutation SNP G G A TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr8:133152401G>A uc003ytj.2 - 11 1715 c.1490C>T c.(1489-1491)GCG>GTG p.A497V KCNQ3_uc010mdt.2_Missense_Mutation_p.A497V NM_004519 NP_004510 O43525 KCNQ3_HUMAN potassium voltage-gated channel KQT-like protein 497 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) CCTGTCTTCCGCCATGGGGTC 0.612 NA 13 31 0 0 0 0 DBC1 1620 broad.mit.edu 37 9 121929389 121929389 + Silent SNP C C T TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr9:121929389C>T uc004bkc.2 - 8 2715 c.2259G>A c.(2257-2259)TCG>TCA p.S753S NM_014618 NP_055433 O60477 DBC1_HUMAN deleted in bladder cancer 1 precursor 753 cell cycle arrest|cell death cytoplasm protein binding skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1) 8 TCATCTGGTCCGACTGTTTGA 0.438 NA 27 155 0 0 0 0 NOTCH1 4851 broad.mit.edu 37 9 139407533 139407533 + Nonsense_Mutation SNP G G A TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr9:139407533G>A uc004chz.2 - 15 2407 c.2407C>T c.(2407-2409)CAG>TAG p.Q803* NOTCH1_uc004cia.1_Nonsense_Mutation_p.Q33* NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 803 Extracellular (Potential).|EGF-like 21; calcium-binding (Potential). Q -> K (in Ref. 1; AAG33848 and 3; AAA60614). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CACGTGCCCTGGTTCAGACAT 0.637 NA T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 11 36 0 0 0 0 EHMT1 79813 broad.mit.edu 37 9 140611325 140611325 + Silent SNP C C T TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr9:140611325C>T uc011mfc.1 + 3 370 c.333C>T c.(331-333)GCC>GCT p.A111A EHMT1_uc004coa.2_Silent_p.A111A|EHMT1_uc004cob.1_Silent_p.A80A NM_024757 NP_079033 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 111 DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|pancreas(1) 3 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) ACGTCACTGCCGACGACTTTG 0.542 NA 7 99 0 0 0 0 DMD 1756 broad.mit.edu 37 X 32380923 32380923 + Missense_Mutation SNP G G T TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chrX:32380923G>T uc004dda.1 - 37 5551 c.5307C>A c.(5305-5307)CAC>CAA p.H1769Q DMD_uc004dcw.2_Missense_Mutation_p.H425Q|DMD_uc004dcx.2_Missense_Mutation_p.H428Q|DMD_uc004dcz.2_Missense_Mutation_p.H1646Q|DMD_uc004dcy.1_Missense_Mutation_p.H1765Q|DMD_uc004ddb.1_Missense_Mutation_p.H1761Q|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 1769 Spectrin 12.|Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TCTTAATTCTGTGTGAAATGG 0.473 NA 14 140 3.33e-07 3.72e-06 1 0 FAM123B 139285 broad.mit.edu 37 X 63410343 63410343 + Nonsense_Mutation SNP G G A TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chrX:63410343G>A uc004dvo.2 - 2 3097 c.2824C>T c.(2824-2826)CGA>TGA p.R942* NM_152424 NP_689637 Q5JTC6 F123B_HUMAN family with sequence similarity 123B 942 Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane p.0?(40) kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1) 112 GGACTGTCTCGGCTCCATTCT 0.587 NA 7 49 0 0 0 0 KIF4A 24137 broad.mit.edu 37 X 69510347 69510347 + Silent SNP G G A TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chrX:69510347G>A uc004dyg.2 + 2 166 c.39G>A c.(37-39)GCG>GCA p.A13A KIF4A_uc010nkw.2_Silent_p.A13A|PDZD11_uc004dyd.1_5'Flank|PDZD11_uc004dye.1_5'Flank|KIF4A_uc004dyf.1_Silent_p.A13A NM_012310 NP_036442 O95239 KIF4A_HUMAN kinesin family member 4 13 Kinesin-motor. anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization chromosome|cytosol|midbody|nuclear matrix|spindle microtubule ATP binding|DNA binding|microtubule motor activity|protein binding ovary(4) 4 TAAGAGTGGCGCTGCGTTGTC 0.557 NA 9 50 0 0 0 0 RLIM 51132 broad.mit.edu 37 X 73812879 73812879 + Missense_Mutation SNP C C T TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chrX:73812879C>T uc004ebu.2 - 5 561 c.271G>A c.(271-273)GAT>AAT p.D91N RLIM_uc004ebw.2_Missense_Mutation_p.D91N NM_183353 NP_899196 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 91 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 TTAGACACATCATCTGAAGAG 0.418 NA 7 70 0 0 0 0 SRPX2 27286 broad.mit.edu 37 X 99925827 99925827 + Missense_Mutation SNP C C G TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chrX:99925827C>G uc004egb.2 + 11 1721 c.1241C>G c.(1240-1242)TCC>TGC p.S414C NM_014467 NP_055282 O60687 SRPX2_HUMAN sushi-repeat-containing protein, X-linked 2 414 angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation cytoplasm|extracellular region receptor binding ovary(2) 2 CTCACTCGCTCCTACTTCAAC 0.517 NA OREG0019890 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 101 0 0 0 0 ARHGEF6 9459 broad.mit.edu 37 X 135754234 135754234 + Nonsense_Mutation SNP C C A TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chrX:135754234C>A uc004fab.2 - 20 2542 c.2080G>T c.(2080-2082)GAG>TAG p.E694* ARHGEF6_uc011mwd.1_Nonsense_Mutation_p.E567*|ARHGEF6_uc011mwe.1_Nonsense_Mutation_p.E540* NM_004840 NP_004831 Q15052 ARHG6_HUMAN Rac/Cdc42 guanine nucleotide exchange factor 6 694 apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity 0 Acute lymphoblastic leukemia(192;0.000127) ATGAGTTTCTCTTCCTCAGGG 0.473 NA 13 159 0.000219431 0.00237628 1 0 ATP2C2 9914 broad.mit.edu 37 16 84492766 84492766 + Frame_Shift_Del DEL A A - TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr16:84492766delA uc002fhx.2 + 22 2277 c.2188delA c.(2188-2190)AAAfs p.K730fs ATP2C2_uc010chj.2_Frame_Shift_Del_p.K730fs|ATP2C2_uc002fhy.2_Frame_Shift_Del_p.K747fs|ATP2C2_uc002fhz.2_Frame_Shift_Del_p.K579fs|ATP2C2_uc002fia.2_5'Flank NM_014861 NP_055676 O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 730 Extracellular (Potential). ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1) 2 TTACAACATCAAAAACTTTGT 0.557 NA 7 92 --- --- --- --- NA NA NA NA NEK1 4750 broad.mit.edu 37 4 170523716 170523716 + Frame_Shift_Del DEL T T - TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e9619e49-7185-4158-9e8b-45d446960b60 89cd05d8-c8df-41e1-8df6-5d108fabd7f6 g.chr4:170523716delT uc003isb.1 - 2 558 c.66delA c.(64-66)AAAfs p.K22fs NEK1_uc003isc.1_Frame_Shift_Del_p.K22fs|NEK1_uc003isd.1_Frame_Shift_Del_p.K22fs|NEK1_uc003ise.1_Frame_Shift_Del_p.K22fs|NEK1_uc003isf.1_Frame_Shift_Del_p.K22fs NM_012224 NP_036356 Q96PY6 NEK1_HUMAN NIMA-related kinase 1 22 Protein kinase. cell division|cilium assembly|mitosis nucleus|pericentriolar material ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(3)|ovary(2)|large_intestine(1) 6 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14) CTTCTGTAGATTTAACAAGAA 0.318 NA 22 165 --- --- --- --- NA NA NA NA