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 GRIK3 2899 broad.mit.edu 37 1 37337827 37337827 + Missense_Mutation SNP C C T rs143358361 TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr1:37337827C>T uc001caz.2 - 4 829 c.694G>A c.(694-696)GAC>AAC p.D232N GRIK3_uc001cba.1_Missense_Mutation_p.D232N NM_000831 NP_000822 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 232 Extracellular (Potential). negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity p.D232N(1) ovary(3)|skin(2)|large_intestine(1)|breast(1) 7 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) TGGCTGCAGTCGAAGATAATG 0.612 NA 4 22 0 0 0 0 MACF1 23499 broad.mit.edu 37 1 39797559 39797559 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr1:39797559G>A uc010oiu.1 + 1 750 c.619G>A c.(619-621)GAA>AAA p.E207K MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 1772 Plectin 3. cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CCGGTTGCTGGAAGCTCAGCT 0.498 NA 11 35 0 0 0 0 FOXE3 2301 broad.mit.edu 37 1 47882290 47882290 + Silent SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr1:47882290C>T uc001crk.2 + 1 547 c.303C>T c.(301-303)ATC>ATT p.I101I NM_012186 NP_036318 Q13461 FOXE3_HUMAN forkhead box E3 101 Fork-head. cell migration|embryonic organ morphogenesis|enteric nervous system development|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|pattern specification process|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thyroid gland development|thyroid hormone generation 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 0 READ - Rectum adenocarcinoma(2;0.0908) ACCGCTTCATCACCGAACGCT 0.667 NA 9 20 0 0 0 0 WDR47 22911 broad.mit.edu 37 1 109554140 109554140 + Silent SNP G G T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr1:109554140G>T uc001dwj.2 - 5 904 c.528C>A c.(526-528)ATC>ATA p.I176I WDR47_uc001dwl.2_Silent_p.I183I|WDR47_uc001dwi.2_Silent_p.I176I|WDR47_uc001dwk.2_Silent_p.I148I|WDR47_uc010ovf.1_Silent_p.I103I NM_001142551 NP_001136023 O94967 WDR47_HUMAN WD repeat domain 47 isoform 3 176 ovary(1) 1 all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822) Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244) TATCAGCAGGGATGAATTCTG 0.443 NA 42 100 6.46e-13 7.46e-13 1 0 NUP210L 91181 broad.mit.edu 37 1 154067493 154067493 + Missense_Mutation SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr1:154067493C>G uc001fdw.2 - 15 2177 c.2105G>C c.(2104-2106)GGA>GCA p.G702A NUP210L_uc009woq.2_5'UTR|NUP210L_uc010peh.1_Missense_Mutation_p.G702A NM_207308 NP_997191 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like isoform 1 702 integral to membrane skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) TTGTGCTATTCCAATCTTCTC 0.443 NA 10 28 0 0 0 0 C1orf189 388701 broad.mit.edu 37 1 154171936 154171936 + Missense_Mutation SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr1:154171936C>G uc001fee.1 - 4 299 c.273G>C c.(271-273)CAG>CAC p.Q91H NM_001010979 NP_001010979 Q5VU69 CA189_HUMAN hypothetical protein LOC388701 91 0 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) CTTTGCCCATCTGATTTAGTT 0.478 NA 42 221 0 0 0 0 PEAR1 375033 broad.mit.edu 37 1 156884446 156884446 + Silent SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr1:156884446C>T uc001fqj.1 + 23 3086 c.2970C>T c.(2968-2970)GAC>GAT p.D990D PEAR1_uc001fqk.1_Silent_p.D615D NM_001080471 NP_001073940 Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 990 Pro-rich. integral to membrane ovary(2)|central_nervous_system(1) 3 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CAGACCGAGACTCTGTGGGCT 0.607 NA 22 65 0 0 0 0 FCRL3 115352 broad.mit.edu 37 1 157666929 157666929 + Splice_Site SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr1:157666929C>G uc001frb.2 - 6 1136 c.844_splice c.e6+1 p.R282_splice FCRL3_uc001fqx.3_Splice_Site|FCRL3_uc001fqy.3_Splice_Site|FCRL3_uc001fqz.3_Splice_Site_p.R282_splice|FCRL3_uc009wsn.2_Intron|FCRL3_uc009wso.2_Splice_Site|FCRL3_uc001fra.2_5'UTR|FCRL3_uc001frc.1_Splice_Site_p.R282_splice NM_052939 NP_443171 Q96P31 FCRL3_HUMAN Fc receptor-like 3 precursor integral to membrane|plasma membrane receptor activity ovary(3)|breast(1) 4 all_hematologic(112;0.0378) TAGACACTCACTCTGTACACG 0.522 NA 17 24 0 0 0 0 FCGR3A 2214 broad.mit.edu 37 1 161518211 161518211 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr1:161518211C>T uc001gat.3 - 4 456 c.319G>A c.(319-321)GGC>AGC p.G107S FCGR3A_uc001gar.2_Missense_Mutation_p.G143S|FCGR3A_uc001gas.2_Missense_Mutation_p.G142S|FCGR3A_uc009wuh.2_Missense_Mutation_p.G106S|FCGR3A_uc009wui.2_Missense_Mutation_p.G107S NM_001127595 NP_001121067 P08637 FCG3A_HUMAN Fc fragment of IgG, low affinity IIIa, receptor 107 Extracellular (Potential).|Ig-like C2-type 2. immune response|regulation of immune response extracellular region|integral to membrane|plasma membrane IgG binding|receptor activity ovary(1) 1 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) ATCAACTCACCGATATGGACT 0.473 NA 4 59 0 0 0 0 FCGR3B 2215 broad.mit.edu 37 1 161599568 161599568 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr1:161599568C>T uc009wul.2 - 3 593 c.319G>A c.(319-321)GGC>AGC p.G107S NM_000570 NP_000561 O75015 FCG3B_HUMAN low affinity immunoglobulin gamma Fc region 107 immune response anchored to membrane|extracellular region|plasma membrane IgG binding|receptor activity 0 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) ATCAACTCACCGATATGGACT 0.468 NA 6 40 0 0 0 0 MPZL1 9019 broad.mit.edu 37 1 167757121 167757121 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr1:167757121C>T uc001geo.2 + 6 975 c.773C>T c.(772-774)TCA>TTA p.S258L MPZL1_uc001gep.2_3'UTR|MPZL1_uc001geq.2_Missense_Mutation_p.S108L|MPZL1_uc009wvh.2_RNA NM_003953 NP_003944 O95297 MPZL1_HUMAN myelin protein zero-like 1 isoform a 258 Cytoplasmic (Potential). cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane protein binding|structural molecule activity ovary(2) 2 all_hematologic(923;0.215) ATTAACAAGTCAGAGTCTGTG 0.438 NA 24 30 0 0 0 0 BAT2L2 23215 broad.mit.edu 37 1 171509614 171509614 + Silent SNP A A G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr1:171509614A>G uc010pmg.1 + 16 3269 c.3003A>G c.(3001-3003)AGA>AGG p.R1001R BAT2L2_uc010pmh.1_5'UTR NM_015172 NP_055987 Q9Y520 PRC2C_HUMAN HBxAg transactivated protein 2 1001 protein C-terminus binding 0 GCTCTAACAGAAGGGAAGAAG 0.403 NA 6 14 0 0 0 0 CACYBP 27101 broad.mit.edu 37 1 174977767 174977767 + Missense_Mutation SNP T T C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr1:174977767T>C uc001gkj.1 + 5 880 c.455T>C c.(454-456)ATA>ACA p.I152T CACYBP_uc001gki.1_Missense_Mutation_p.I109T NM_014412 NP_055227 Q9HB71 CYBP_HUMAN calcyclin binding protein isoform 1 152 Interaction with SKP1.|CS. beta-catenin destruction complex protein homodimerization activity 0 ACAGTTCTTATATTGTGTAGA 0.333 NA 51 36 0 0 0 0 PAPPA2 60676 broad.mit.edu 37 1 176668354 176668354 + Silent SNP G G T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr1:176668354G>T uc001gkz.2 + 8 4029 c.2865G>T c.(2863-2865)CTG>CTT p.L955L PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 955 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 GCTTGGAGCTGCTCTTCCAAC 0.592 NA 25 126 2.8e-10 3.17e-10 1 0 PAPPA2 60676 broad.mit.edu 37 1 176769219 176769219 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr1:176769219G>A uc001gkz.2 + 21 6317 c.5153G>A c.(5152-5154)CGT>CAT p.R1718H PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1718 Sushi 5. 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 ACTGGCCGGCGTCAATGGCAC 0.493 NA 25 86 0 0 0 0 QSOX1 5768 broad.mit.edu 37 1 180165521 180165521 + Silent SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr1:180165521C>G uc001gnz.2 + 12 1668 c.1593C>G c.(1591-1593)CTC>CTG p.L531L QSOX1_uc001gny.2_Silent_p.L531L|QSOX1_uc001goa.2_Silent_p.L531L|QSOX1_uc001goc.2_Silent_p.L73L|FLJ23867_uc001god.3_5'Flank NM_002826 NP_002817 O00391 QSOX1_HUMAN quiescin Q6 sulfhydryl oxidase 1 isoform a 531 cell redox homeostasis|protein thiol-disulfide exchange extracellular space|integral to Golgi membrane flavin-linked sulfhydryl oxidase activity ovary(1)|central_nervous_system(1) 2 TCAACTTCCTCAAGGCCCACT 0.617 NA 62 140 0 0 0 0 ASPM 259266 broad.mit.edu 37 1 197071233 197071233 + Missense_Mutation SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr1:197071233C>G uc001gtu.2 - 18 7405 c.7148G>C c.(7147-7149)AGA>ACA p.R2383T ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.R231T NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 2383 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 GTGTCTTTGTCTGAGATAATG 0.433 NA 37 151 0 0 0 0 PTPN14 5784 broad.mit.edu 37 1 214542824 214542824 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr1:214542824G>C uc001hkk.1 - 17 3518 c.3247C>G c.(3247-3249)CCA>GCA p.P1083A NM_005401 NP_005392 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 1083 Tyrosine-protein phosphatase. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding breast(2)|ovary(1)|kidney(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) ACATCTTCTGGACAGCCGTGA 0.438 NA 37 74 0 0 0 0 USH2A 7399 broad.mit.edu 37 1 215848775 215848775 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr1:215848775C>T uc001hku.1 - 63 12865 c.12478G>A c.(12478-12480)GCT>ACT p.A4160T NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4160 Extracellular (Potential).|Fibronectin type-III 27. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ACAGTAGGAGCCAGCTGAGAG 0.542 NA HNSCC(13;0.011) 12 46 0 0 0 0 OBSCN 84033 broad.mit.edu 37 1 228509058 228509058 + Missense_Mutation SNP C C A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr1:228509058C>A uc009xez.1 + 55 14560 c.14516C>A c.(14515-14517)GCA>GAA p.A4839E OBSCN_uc001hsn.2_Missense_Mutation_p.A4839E NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 4839 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) GGGGCCCCAGCAGCCCCCTCT 0.622 NA 8 25 3.1e-07 3.43e-07 1 0 NET1 10276 broad.mit.edu 37 10 5498902 5498902 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr10:5498902G>A uc001iia.2 + 12 1874 c.1736G>A c.(1735-1737)CGA>CAA p.R579Q NET1_uc010qar.1_Missense_Mutation_p.R398Q|NET1_uc001iib.2_Missense_Mutation_p.R525Q|NET1_uc010qas.1_Missense_Mutation_p.R398Q NM_001047160 NP_001040625 Q7Z628 ARHG8_HUMAN neuroepithelial cell transforming gene 1 isoform 579 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|nucleus Rho guanyl-nucleotide exchange factor activity breast(1) 1 CCCGGCATCCGAAGAGCGAGG 0.493 NA 9 38 0 0 0 0 CACNB2 783 broad.mit.edu 37 10 18439891 18439891 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr10:18439891G>A uc001ipr.2 + 2 260 c.200G>A c.(199-201)AGT>AAT p.S67N CACNB2_uc009xjz.1_Missense_Mutation_p.S67N|CACNB2_uc001ips.2_Missense_Mutation_p.S67N|CACNB2_uc001ipt.2_Missense_Mutation_p.S67N|CACNB2_uc010qcl.1_RNA|CACNB2_uc001ipu.2_Missense_Mutation_p.S39N|CACNB2_uc001ipv.2_Missense_Mutation_p.S39N|CACNB2_uc009xka.1_Missense_Mutation_p.S39N NM_201596 NP_963890 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 67 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity large_intestine(1)|central_nervous_system(1)|skin(1) 3 Magnesium Sulfate(DB00653)|Verapamil(DB00661) ACCTCAAATAGTTTTGTTCGC 0.313 NA 8 78 0 0 0 0 C10orf71 118461 broad.mit.edu 37 10 50532323 50532323 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr10:50532323C>T uc010qgp.1 + 3 2072 c.1733C>T c.(1732-1734)GCT>GTT p.A578V NM_199459 NP_955629 Q711Q0 CJ071_HUMAN hypothetical protein LOC118461 isoform 2 578 0 GACCCTACAGCTGACCCCAGT 0.547 NA 14 8 0 0 0 0 STAMBPL1 57559 broad.mit.edu 37 10 90682924 90682924 + Splice_Site SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr10:90682924G>C uc001kfk.2 + 11 1678 c.1255_splice c.e11-1 p.I419_splice STAMBPL1_uc010qmx.1_Intron|STAMBPL1_uc009xto.2_Splice_Site|STAMBPL1_uc001kfl.2_Splice_Site_p.I419_splice|STAMBPL1_uc001kfn.2_Splice_Site_p.I253_splice NM_020799 NP_065850 Q96FJ0 STALP_HUMAN STAM binding protein-like 1 metal ion binding|metallopeptidase activity|protein binding ovary(1) 1 Colorectal(252;0.0381) Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05) TTCTTTCCTAGATATGCAAAC 0.313 NA 6 20 0 0 0 0 PNLIP 5406 broad.mit.edu 37 10 118306919 118306919 + Missense_Mutation SNP C C T rs142749694 TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr10:118306919C>T uc001lcm.2 + 3 203 c.160C>T c.(160-162)CGC>TGC p.R54C NM_000936 NP_000927 P16233 LIPP_HUMAN pancreatic lipase precursor 54 lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) TGTCAACACCCGCTTCCTCCT 0.373 NA 35 16 0 0 0 0 HSPA12A 259217 broad.mit.edu 37 10 118434882 118434882 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr10:118434882G>C uc001lct.2 - 12 1543 c.1438C>G c.(1438-1440)CTG>GTG p.L480V HSPA12A_uc001lcu.2_Missense_Mutation_p.L397V NM_025015 NP_079291 O43301 HS12A_HUMAN heat shock 70kDa protein 12A 480 ATP binding ovary(1) 1 all cancers(201;0.0158) CCGCCCACCAGAAAGAGGAAC 0.622 NA 4 12 0 0 0 0 CPXM2 119587 broad.mit.edu 37 10 125526664 125526664 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr10:125526664G>A uc001lhk.1 - 10 1629 c.1304C>T c.(1303-1305)TCG>TTG p.S435L CPXM2_uc001lhj.2_RNA NM_198148 NP_937791 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 435 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) TCCCAGCTCCGAGCCCTGGAG 0.552 NA 21 22 0 0 0 0 C10orf137 26098 broad.mit.edu 37 10 127429569 127429569 + Splice_Site SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr10:127429569G>C uc001liq.1 + 17 2464 c.2171_splice c.e17-1 p.D724_splice C10orf137_uc001lin.2_Splice_Site_p.D690_splice|C10orf137_uc001lio.1_Splice_Site_p.D690_splice|C10orf137_uc001lip.1_Splice_Site_p.D428_splice|C10orf137_uc001lir.2_Splice_Site_p.D218_splice|C10orf137_uc001lis.1_Splice_Site_p.D50_splice NM_015608 NP_056423 Q3B7T1 EDRF1_HUMAN erythroid differentiation-related factor 1 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding ovary(5)|large_intestine(3)|lung(2) 10 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) TTTCTAAACAGATACTTATTG 0.378 NA 29 100 0 0 0 0 SLC17A6 57084 broad.mit.edu 37 11 22363086 22363086 + Silent SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr11:22363086G>A uc001mqk.2 + 2 512 c.99G>A c.(97-99)AAG>AAA p.K33K NM_020346 NP_065079 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (sodium-dependent 33 Cytoplasmic (Potential). sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3)|breast(1) 4 TGCTGGAGAAGAAGCAAGACA 0.642 NA 11 45 0 0 0 0 SLC43A1 8501 broad.mit.edu 37 11 57268800 57268800 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr11:57268800C>T uc001nkk.2 - 3 275 c.157G>A c.(157-159)GAG>AAG p.E53K SLC43A1_uc001nkl.2_Missense_Mutation_p.E53K NM_003627 NP_003618 O75387 LAT3_HUMAN solute carrier family 43, member 1 53 cellular nitrogen compound metabolic process|ion transport integral to plasma membrane neutral amino acid transmembrane transporter activity 0 GTGCTGCTCTCAGCTGAGGAG 0.607 NA 5 34 0 0 0 0 VWA5A 4013 broad.mit.edu 37 11 123989062 123989062 + Missense_Mutation SNP A A G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr11:123989062A>G uc001pzu.2 + 5 622 c.413A>G c.(412-414)GAT>GGT p.D138G VWA5A_uc001pzr.2_Missense_Mutation_p.D138G|VWA5A_uc001pzs.2_Missense_Mutation_p.D138G|VWA5A_uc010sae.1_Missense_Mutation_p.D154G|VWA5A_uc001pzt.2_Missense_Mutation_p.D138G NM_001130142 NP_001123614 O00534 VMA5A_HUMAN BCSC-1 isoform 1 138 upper_aerodigestive_tract(1)|ovary(1) 2 CTGGAAGCAGATGGGGCTCTG 0.537 NA 15 89 0 0 0 0 EFCAB4B 84766 broad.mit.edu 37 12 3765560 3765560 + Missense_Mutation SNP A A C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr12:3765560A>C uc001qmj.2 - 9 1347 c.775T>G c.(775-777)TTT>GTT p.F259V EFCAB4B_uc010sen.1_Missense_Mutation_p.F259V|EFCAB4B_uc010seo.1_Missense_Mutation_p.F259V|EFCAB4B_uc001qmi.1_RNA NM_032680 NP_116069 Q9BSW2 EFC4B_HUMAN EF-hand calcium binding domain 4B isoform c 259 Potential. activation of store-operated calcium channel activity|store-operated calcium entry cytoplasm calcium ion binding|protein binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264) CGGGCTTGAAACCTCTCTGTG 0.498 NA 10 54 0 0 0 0 M6PR 4074 broad.mit.edu 37 12 9095069 9095069 + Silent SNP T T C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr12:9095069T>C uc001qvf.2 - 6 824 c.654A>G c.(652-654)AAA>AAG p.K218K NM_002355 NP_002346 P20645 MPRD_HUMAN cation-dependent mannose-6-phosphate receptor 218 Cytoplasmic (Potential). endosome to lysosome transport|receptor-mediated endocytosis cell surface|endosome|integral to plasma membrane|lysosomal membrane mannose binding|mannose transmembrane transporter activity|transmembrane receptor activity 0 Hepatocellular(102;0.137) BRCA - Breast invasive adenocarcinoma(232;0.0146) GCTCCATTCCTTTGGCTCCCA 0.478 NA 47 269 0 0 0 0 ESPL1 9700 broad.mit.edu 37 12 53663848 53663848 + Silent SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr12:53663848G>A uc001sck.2 + 3 1213 c.1122G>A c.(1120-1122)CTG>CTA p.L374L ESPL1_uc001scj.2_Silent_p.L49L NM_012291 NP_036423 Q14674 ESPL1_HUMAN separase 374 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding lung(1)|kidney(1)|skin(1) 3 GCTCTCTTCTGCAGCAGCTGC 0.537 NA 23 11 0 0 0 0 HOXC4 3221 broad.mit.edu 37 12 54448755 54448755 + Silent SNP C C A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr12:54448755C>A uc001seu.2 + 4 1241 c.561C>A c.(559-561)ATC>ATA p.I187I HOXC4_uc001sex.2_Silent_p.I187I NM_014620 NP_055435 P09017 HXC4_HUMAN homeobox C4 187 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GGAGAAGGATCGAGATCGCCC 0.537 NA 13 8 3.46e-05 3.74e-05 1 0 GDF11 10220 broad.mit.edu 37 12 56143303 56143303 + Silent SNP T T C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr12:56143303T>C uc001shq.2 + 3 898 c.861T>C c.(859-861)CTT>CTC p.L287L GDF11_uc010spv.1_Silent_p.L287L NM_005811 NP_005802 O95390 GDF11_HUMAN growth differentiation factor 11 precursor 287 growth|mesoderm development|skeletal system development extracellular space cytokine activity|growth factor activity kidney(1) 1 TCATGGAGCTTCGAGTCCTAG 0.572 NA 3 64 0 0 0 0 HNF1A 6927 broad.mit.edu 37 12 121426777 121426777 + Silent SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr12:121426777G>A uc001tzg.2 + 2 491 c.468G>A c.(466-468)ACG>ACA p.T156T HNF1A_uc001tze.1_Silent_p.T156T|HNF1A_uc001tzf.2_Silent_p.T156T|HNF1A_uc010szn.1_Silent_p.T156T NM_000545 NP_000536 P20823 HNF1A_HUMAN hepatic nuclear factor-1-alpha 156 Interaction with DNA. glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding liver(92)|large_intestine(15)|endometrium(6)|breast(2)|lung(1) 116 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CCATGAAGACGCAGAAGCGGG 0.622 NA Hepatic_Adenoma_Familial_Clustering_of 10 19 0 0 0 0 BRCA2 675 broad.mit.edu 37 13 32913203 32913203 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr13:32913203G>A uc001uub.1 + 11 4938 c.4711G>A c.(4711-4713)GAG>AAG p.E1571K NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 1571 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) AAAGTACAGAGAGGCCTGTAA 0.383 NA D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) 45 31 0 0 0 0 DNAJC15 29103 broad.mit.edu 37 13 43643083 43643083 + Missense_Mutation SNP A A T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr13:43643083A>T uc001uyy.2 + 3 579 c.178A>T c.(178-180)ATC>TTC p.I60F NM_013238 NP_037370 Q9Y5T4 DJC15_HUMAN DNAJ domain-containing 60 integral to membrane heat shock protein binding 0 Lung NSC(96;4.3e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) GBM - Glioblastoma multiforme(144;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0737) CGCATTTCGGATCTGGAAACC 0.333 NA 7 12 0 0 0 0 LRRC16B 90668 broad.mit.edu 37 14 24532038 24532038 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr14:24532038G>A uc001wlj.2 + 29 2846 c.2689G>A c.(2689-2691)GAA>AAA p.E897K LRRC16B_uc001wlk.2_5'UTR NM_138360 NP_612369 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 897 ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(265;0.019) CACAGATGATGAACTTGGGAC 0.597 NA 8 85 0 0 0 0 ADCY4 196883 broad.mit.edu 37 14 24789048 24789048 + Nonsense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr14:24789048G>C uc001wov.2 - 21 2639 c.2633C>G c.(2632-2634)TCA>TGA p.S878* ADCY4_uc001wow.2_Nonsense_Mutation_p.S878*|ADCY4_uc010toh.1_Nonsense_Mutation_p.S564*|ADCY4_uc001wox.2_Nonsense_Mutation_p.S878*|ADCY4_uc001woy.2_Nonsense_Mutation_p.S878* NM_139247 NP_640340 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 878 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 cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding ovary(1)|lung(1)|pancreas(1) 3 GBM - Glioblastoma multiforme(265;0.0192) GTCTGGGACTGAGGCGAAGAG 0.493 NA 6 76 0 0 0 0 C14orf106 55320 broad.mit.edu 37 14 45679696 45679696 + Missense_Mutation SNP A A T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr14:45679696A>T uc001wwf.2 - 14 3498 c.3039T>A c.(3037-3039)GAT>GAA p.D1013E NM_018353 NP_060823 Q6P0N0 M18BP_HUMAN chromosome 14 open reading frame 106 1013 Poly-Asp. cell division|CenH3-containing nucleosome assembly at centromere|mitosis chromosome, centromeric region|nucleoplasm DNA binding 0 TTGGCAGAATATCATCATCAT 0.373 NA 14 97 0 0 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72169178 72169178 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr14:72169178C>T uc001xms.2 + 12 3950 c.3602C>T c.(3601-3603)ACG>ATG p.T1201M SIPA1L1_uc001xmt.2_Missense_Mutation_p.T1201M|SIPA1L1_uc001xmu.2_Missense_Mutation_p.T1201M|SIPA1L1_uc001xmv.2_Missense_Mutation_p.T1201M|SIPA1L1_uc010ttm.1_Missense_Mutation_p.T676M|SIPA1L1_uc001xmw.2_Translation_Start_Site NM_015556 NP_056371 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1201 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity ovary(3)|breast(1) 4 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) GGAAAATCCACGCCTAGCTGG 0.478 NA 8 27 0 0 0 0 GABRB3 2562 broad.mit.edu 37 15 26806279 26806279 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr15:26806279G>A uc001zaz.2 - 8 1022 c.880C>T c.(880-882)CGG>TGG p.R294W GABRB3_uc010uae.1_Missense_Mutation_p.R209W|GABRB3_uc001zba.2_Missense_Mutation_p.R294W|GABRB3_uc001zbb.2_Missense_Mutation_p.R350W NM_000814 NP_000805 P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 294 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1) 5 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) AAGGTCTCCCGAAGGTGGGTG 0.473 NA 12 47 0 0 0 0 FSIP1 161835 broad.mit.edu 37 15 40057834 40057834 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr15:40057834G>C uc001zki.2 - 4 642 c.424C>G c.(424-426)CAA>GAA p.Q142E NM_152597 NP_689810 Q8NA03 FSIP1_HUMAN fibrous sheath interacting protein 1 142 Potential. ovary(2)|skin(1) 3 all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142) TCTAGACCTTGCTTCTTAATT 0.284 NA 8 25 0 0 0 0 BAHD1 22893 broad.mit.edu 37 15 40750963 40750963 + Silent SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr15:40750963C>G uc001zlu.2 + 2 371 c.300C>G c.(298-300)CCC>CCG p.P100P BAHD1_uc001zlt.2_Silent_p.P100P|BAHD1_uc010bbp.1_Silent_p.P100P|BAHD1_uc001zlv.2_Silent_p.P100P NM_014952 NP_055767 Q8TBE0 BAHD1_HUMAN bromo adjacent homology domain containing 1 100 heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin silencing complex|chromosome chromatin binding|DNA binding|protein binding 0 all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08) CCAAGCCCCCCAGCCCGGCCC 0.657 NA 4 41 0 0 0 0 C16orf11 146325 broad.mit.edu 37 16 615181 615181 + Silent SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr16:615181C>G uc002chk.2 + 3 1869 c.1590C>G c.(1588-1590)CTC>CTG p.L530L NHLRC4_uc002chl.2_5'Flank|PIGQ_uc010bqw.2_5'Flank NM_145270 NP_660313 P0CG20 CP011_HUMAN hypothetical protein LOC146325 530 central_nervous_system(1) 1 CCCCAGGGCTCCCCCTCGCAG 0.692 NA 11 16 0 0 0 0 MSLNL 401827 broad.mit.edu 37 16 825511 825511 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr16:825511G>C uc002cjz.1 - 5 1250 c.1250C>G c.(1249-1251)TCT>TGT p.S417C NM_001025190 NP_001020361 Q96KJ4 MSLNL_HUMAN mesothelin-like Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion integral to membrane breast(3)|ovary(1) 4 GAGCTGGGCAGAACGGCGCTC 0.682 NA 6 14 0 0 0 0 ZNF598 90850 broad.mit.edu 37 16 2053657 2053657 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr16:2053657C>T uc002cof.1 - 4 310 c.295G>A c.(295-297)GAT>AAT p.D99N ZNF598_uc002coe.1_5'Flank NM_178167 NP_835461 Q86UK7 ZN598_HUMAN zinc finger protein 598 99 intracellular zinc ion binding lung(1)|breast(1) 2 AAGTAGATATCATATTTCTTC 0.547 NA OREG0023548 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 42 0 0 0 0 PPL 5493 broad.mit.edu 37 16 4934903 4934903 + Silent SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr16:4934903G>C uc002cyd.1 - 22 3843 c.3753C>G c.(3751-3753)CTC>CTG p.L1251L NM_002705 NP_002696 O60437 PEPL_HUMAN periplakin 1251 Potential. keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton ovary(4)|central_nervous_system(1)|skin(1) 6 TCTCCTCCCTGAGCCGCTGAA 0.522 NA 14 59 0 0 0 0 ACSM3 6296 broad.mit.edu 37 16 20781560 20781560 + Nonsense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr16:20781560G>A uc002dhr.2 + 2 391 c.204G>A c.(202-204)TGG>TGA p.W68* ACSM3_uc002dhq.2_Nonsense_Mutation_p.W68*|ACSM3_uc010vba.1_Nonsense_Mutation_p.W60* NM_005622 NP_005613 Q53FZ2 ACSM3_HUMAN SA hypertension-associated homolog isoform 1 68 regulation of blood pressure mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding ovary(1) 1 TGGACCAATGGACTGATAAGG 0.328 NA 4 30 0 0 0 0 CD2BP2 10421 broad.mit.edu 37 16 30364880 30364880 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr16:30364880G>A uc002dxr.2 - 4 870 c.617C>T c.(616-618)GCC>GTC p.A206V CD2BP2_uc002dxs.2_Missense_Mutation_p.A206V NM_006110 NP_006101 O95400 CD2B2_HUMAN CD2 antigen (cytoplasmic tail) binding protein 206 assembly of spliceosomal tri-snRNP cytoplasm|nucleoplasm|U5 snRNP protein binding|ribonucleoprotein binding ovary(1) 1 CATCTGGTCGGCCAACCCGGA 0.657 NA 3 22 0 0 0 0 ZNF689 115509 broad.mit.edu 37 16 30621254 30621254 + Missense_Mutation SNP A A G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr16:30621254A>G uc002dyx.2 - 1 429 c.109T>C c.(109-111)TAC>CAC p.Y37H ZNF689_uc010bzy.2_Intron NM_138447 NP_612456 Q96CS4 ZN689_HUMAN zinc finger protein HIT-39 37 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(24;0.198) GGGGAGAAGTACACGGCCACG 0.692 NA 2 11 0 0 0 0 KLHDC4 54758 broad.mit.edu 37 16 87744911 87744911 + Missense_Mutation SNP G G A rs113844965 TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr16:87744911G>A uc002fki.2 - 9 1020 c.974C>T c.(973-975)TCG>TTG p.S325L KLHDC4_uc002fkh.1_5'Flank|KLHDC4_uc010cht.1_Missense_Mutation_p.S144L|KLHDC4_uc002fkj.2_Missense_Mutation_p.S294L|KLHDC4_uc002fkk.2_Missense_Mutation_p.S144L|KLHDC4_uc002fkl.2_Missense_Mutation_p.S268L|KLHDC4_uc010chu.1_Missense_Mutation_p.S144L NM_017566 NP_060036 Q8TBB5 KLDC4_HUMAN kelch domain containing 4 325 Kelch 5. pancreas(2) 2 BRCA - Breast invasive adenocarcinoma(80;0.0283) GAACTCGCCCGACAGGCTCTC 0.582 NA 9 33 0 0 0 0 OR1E1 8387 broad.mit.edu 37 17 3301357 3301357 + Silent SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr17:3301357C>T uc002fvj.1 - 1 348 c.348G>A c.(346-348)GTG>GTA p.V116V NM_003553 NP_003544 P30953 OR1E1_HUMAN olfactory receptor, family 1, subfamily E, 116 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AGGCCATGGCCACAAGGAGGA 0.577 NA 13 26 0 0 0 0 GSG2 83903 broad.mit.edu 37 17 3629572 3629572 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr17:3629572G>A uc002fwp.2 + 1 2376 c.2343G>A c.(2341-2343)ATG>ATA p.M781I ITGAE_uc002fwo.3_Intron|ITGAE_uc002fwn.3_5'Flank NM_031965 NP_114171 Q8TF76 HASP_HUMAN haspin 781 Protein kinase. cell cycle|chromatin modification|intracellular protein kinase cascade nucleus ATP binding|protein serine/threonine kinase activity 0 ACAGGACAATGCTGAACTTCA 0.433 NA 11 34 0 0 0 0 ZZEF1 23140 broad.mit.edu 37 17 3961378 3961378 + Missense_Mutation SNP T T C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr17:3961378T>C uc002fxe.2 - 32 5139 c.5075A>G c.(5074-5076)AAT>AGT p.N1692S ZZEF1_uc002fxh.2_Missense_Mutation_p.N6S|ZZEF1_uc002fxi.2_5'UTR|ZZEF1_uc002fxj.1_Missense_Mutation_p.N305S NM_015113 NP_055928 O43149 ZZEF1_HUMAN zinc finger, ZZ type with EF hand domain 1 1692 calcium ion binding|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 GGCGAGATCATTGGGTTCCCA 0.458 NA 10 23 0 0 0 0 NLRP1 22861 broad.mit.edu 37 17 5486123 5486123 + Silent SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr17:5486123C>T uc002gci.2 - 2 870 c.315G>A c.(313-315)CTG>CTA p.L105L NLRP1_uc002gcg.1_Silent_p.L105L|NLRP1_uc002gck.2_Silent_p.L105L|NLRP1_uc002gcj.2_Silent_p.L105L|NLRP1_uc002gcl.2_Silent_p.L105L|NLRP1_uc002gch.3_Silent_p.L105L|NLRP1_uc010clh.2_Silent_p.L105L NM_033004 NP_127497 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 isoform 1 105 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1) 9 Colorectal(1115;3.48e-05) TGGGAGACCCCAGGTGGGGTT 0.602 NA 3 32 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7577094 7577094 + Missense_Mutation SNP G G A rs28934574 TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr17:7577094G>A uc002gim.2 - 8 1038 c.844C>T c.(844-846)CGG>TGG p.R282W TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 282 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; 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.R282W(367)|p.R282G(27)|p.R282Q(20)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(1)|p.D281_R282delDR(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) TCTGTGCGCCGGTCTCTCCCA 0.557 111 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) 16 32 0 0 0 0 DNAH2 146754 broad.mit.edu 37 17 7667311 7667311 + Silent SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr17:7667311C>G uc002giu.1 + 18 3155 c.3141C>G c.(3139-3141)CTC>CTG p.L1047L NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 1047 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) CTGGGCGCCTCCTGGAGCTGC 0.622 NA 7 49 0 0 0 0 MYH3 4621 broad.mit.edu 37 17 10545560 10545560 + Silent SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr17:10545560G>A uc002gmq.1 - 16 2033 c.1956C>T c.(1954-1956)TTC>TTT p.F652F NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 652 Myosin head-like. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|central_nervous_system(2)|pancreas(1) 7 TTCTTACCCTGAAAAGGGCAG 0.388 NA 8 32 0 0 0 0 NBR1 4077 broad.mit.edu 37 17 41347008 41347008 + Missense_Mutation SNP A A G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr17:41347008A>G uc010czd.2 + 14 1842 c.1702A>G c.(1702-1704)ATA>GTA p.I568V NBR1_uc010diz.2_Missense_Mutation_p.I568V|NBR1_uc010whu.1_Missense_Mutation_p.I568V|NBR1_uc010whv.1_Missense_Mutation_p.I568V|NBR1_uc010whw.1_Missense_Mutation_p.I547V|NBR1_uc010whx.1_3'UTR NM_031862 NP_114068 Q14596 NBR1_HUMAN neighbor of BRCA1 gene 1 568 ATG8 family protein-binding. macroautophagy|protein oligomerization autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere ubiquitin binding|zinc ion binding skin(1) 1 Breast(137;0.00086) BRCA - Breast invasive adenocarcinoma(366;0.0934) GCTGTTGGATATAAACATTGT 0.438 NA 8 26 0 0 0 0 MPP3 4356 broad.mit.edu 37 17 41888554 41888554 + Missense_Mutation SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr17:41888554C>G uc002iei.3 - 17 1441 c.1275G>C c.(1273-1275)AAG>AAC p.K425N MPP3_uc002ieh.2_Missense_Mutation_p.K450N|MPP3_uc002iej.2_RNA NM_001932 NP_001923 Q13368 MPP3_HUMAN palmitoylated membrane protein 3 425 Guanylate kinase-like. signal transduction cell surface|integral to plasma membrane guanylate kinase activity large_intestine(1)|skin(1) 2 Breast(137;0.00394) BRCA - Breast invasive adenocarcinoma(366;0.119) TCTCATGGCTCTTTCGGGGCC 0.488 NA 12 47 0 0 0 0 ITGA3 3675 broad.mit.edu 37 17 48145541 48145541 + Missense_Mutation SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr17:48145541C>G uc010dbl.2 + 4 1000 c.536C>G c.(535-537)ACC>AGC p.T179S ITGA3_uc010dbm.2_Missense_Mutation_p.T179S NM_002204 NP_002195 P26006 ITA3_HUMAN integrin alpha 3 isoform a precursor 179 Extracellular (Potential). blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration cell surface|integrin complex protein binding|receptor activity ovary(2)|pancreas(1) 3 GACTGGCAGACCTACCACAAC 0.582 NA 8 85 0 0 0 0 USH1G 124590 broad.mit.edu 37 17 72915717 72915717 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr17:72915717G>A uc002jme.1 - 2 1397 c.1214C>T c.(1213-1215)GCC>GTC p.A405V USH1G_uc010wro.1_Missense_Mutation_p.A302V NM_173477 NP_775748 Q495M9 USH1G_HUMAN Usher syndrome 1G protein 405 SAM. equilibrioception|photoreceptor cell maintenance|sensory perception of sound actin cytoskeleton skin(2) 2 all_lung(278;0.172)|Lung NSC(278;0.207) CAGGAGGGCGGCAAAGTCCTC 0.627 NA 4 60 0 0 0 0 TNRC6C 57690 broad.mit.edu 37 17 76045225 76045225 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr17:76045225G>A uc002jud.2 + 4 682 c.82G>A c.(82-84)GTC>ATC p.V28I TNRC6C_uc002juf.2_Missense_Mutation_p.V28I|TNRC6C_uc002jue.2_Missense_Mutation_p.V28I NM_018996 NP_061869 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C isoform 2 28 Sufficient for interaction with argonaute family proteins. gene silencing by RNA|regulation of translation nucleotide binding|RNA binding ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) TGGCGCACTCGTCCAAAGCCC 0.557 NA 11 59 0 0 0 0 FAM59A 64762 broad.mit.edu 37 18 29847915 29847915 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr18:29847915G>C uc002kxl.2 - 6 2606 c.2550C>G c.(2548-2550)ATC>ATG p.I850M FAM59A_uc002kxk.1_Missense_Mutation_p.I849M NM_022751 NP_073588 Q9H706 FA59A_HUMAN family with sequence similarity 59, member A 850 SAM. ovary(1)|skin(1) 2 CCTCTGAGAGGATTTCTTCCG 0.418 NA 6 34 0 0 0 0 ALPK2 115701 broad.mit.edu 37 18 56184167 56184167 + Silent SNP G G T rs61732436 TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr18:56184167G>T uc002lhj.3 - 9 6127 c.5913C>A c.(5911-5913)ATC>ATA p.I1971I NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 1971 Alpha-type protein kinase. ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 AGTTCCTTTGGATGAGCTCAT 0.502 NA 18 73 2.38e-13 2.76e-13 1 0 MC4R 4160 broad.mit.edu 37 18 58038766 58038766 + Nonsense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr18:58038766G>A uc002lie.1 - 1 1236 c.817C>T c.(817-819)CAG>TAG p.Q273* NM_005912 NP_005903 P32245 MC4R_HUMAN melanocortin 4 receptor 273 Extracellular (Potential). feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process integral to membrane|plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding lung(1) 1 Colorectal(73;0.0946) TATGGATTCTGAGGACAAGAG 0.423 NA 13 51 0 0 0 0 C19orf36 113177 broad.mit.edu 37 19 2096977 2096977 + Silent SNP G G T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr19:2096977G>T uc002luw.1 + 1 110 c.33G>T c.(31-33)ACG>ACT p.T11T C19orf36_uc002lux.1_Silent_p.T11T|C19orf36_uc010xgw.1_Silent_p.T11T|MOBKL2A_uc002luv.2_5'Flank NM_001039846 NP_001034935 Q1ZYL8 IZUM4_HUMAN hypothetical protein LOC113177 isoform 3 11 extracellular region 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) TGTGCCTGACGGCGGCGCTGG 0.672 NA OREG0025135 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 61 0.000978159 0.00102849 1 0 CREB3L3 84699 broad.mit.edu 37 19 4171169 4171169 + Silent SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr19:4171169C>T uc002lzl.2 + 8 1088 c.972C>T c.(970-972)GTC>GTT p.V324V CREB3L3_uc002lzm.2_Silent_p.V314V|CREB3L3_uc010xib.1_Silent_p.V313V|CREB3L3_uc010xic.1_Missense_Mutation_p.R280C NM_032607 NP_115996 Q68CJ9 CR3L3_HUMAN cAMP responsive element binding protein 3-like 324 Helical; Signal-anchor for type II membrane protein; (Potential). response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18) GCACCTGTGTCGCAGTGAGTC 0.602 NA 21 23 0 0 0 0 FDX1L 112812 broad.mit.edu 37 19 10426650 10426650 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr19:10426650C>T uc002mny.1 - 1 42 c.23G>A c.(22-24)GGA>GAA p.G8E FDX1L_uc002mnx.1_RNA NM_001031734 NP_001026904 Q6P4F2 ADXL_HUMAN ferredoxin 1-like precursor 8 electron transport chain|transport mitochondrial matrix 2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06) ACTCACGCCTCCCCGGGCCAT 0.662 NA 3 13 0 0 0 0 LDLR 3949 broad.mit.edu 37 19 11224240 11224240 + Missense_Mutation SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr19:11224240C>G uc002mqk.3 + 10 1556 c.1388C>G c.(1387-1389)TCT>TGT p.S463C LDLR_uc010xlk.1_Missense_Mutation_p.S463C|LDLR_uc010xll.1_Missense_Mutation_p.S422C|LDLR_uc010xlm.1_Missense_Mutation_p.S316C|LDLR_uc010xln.1_Missense_Mutation_p.S336C|LDLR_uc010xlo.1_Missense_Mutation_p.S295C NM_000527 NP_000518 P01130 LDLR_HUMAN low density lipoprotein receptor precursor 463 LDL-receptor class B 2.|Extracellular (Potential). cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity ovary(2)|skin(2) 4 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) CACGGCGTCTCTTCCTATGAC 0.632 NA 10 27 0 0 0 0 ZNF208 7757 broad.mit.edu 37 19 22157311 22157311 + Missense_Mutation SNP A A C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr19:22157311A>C uc002nqp.2 - 4 674 c.525T>G c.(523-525)TGT>TGG p.C175W ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) CGTATTCTTTACATTGCAAAT 0.328 NA 8 41 0 0 0 0 ZNF675 171392 broad.mit.edu 37 19 23836955 23836955 + Silent SNP T T C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr19:23836955T>C uc002nri.2 - 4 962 c.780A>G c.(778-780)GAA>GAG p.E260E NM_138330 NP_612203 Q8TD23 ZN675_HUMAN zinc finger protein 675 260 C2H2-type 5. bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(1)|kidney(1) 2 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) CTTTGCCACATTCTTCACATT 0.353 NA 10 31 0 0 0 0 FCGBP 8857 broad.mit.edu 37 19 40376315 40376315 + Missense_Mutation SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr19:40376315C>G uc002omp.3 - 25 11997 c.11989G>C c.(11989-11991)GAG>CAG p.E3997Q NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 3997 Cys-rich. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GTTCCTACCTCATAGTAGACA 0.532 NA 6 28 0 0 0 0 BCAM 4059 broad.mit.edu 37 19 45316587 45316587 + Silent SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr19:45316587C>G uc002ozu.2 + 5 629 c.585C>G c.(583-585)CCC>CCG p.P195P BCAM_uc002ozt.1_Silent_p.P195P NM_005581 NP_005572 P50895 BCAM_HUMAN basal cell adhesion molecule isoform 1 195 Extracellular (Potential).|Ig-like V-type 2. cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity skin(1) 1 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) TGGAGGTGCCCGTAGAGATGA 0.687 NA 18 41 0 0 0 0 IZUMO1 284359 broad.mit.edu 37 19 49245052 49245052 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr19:49245052C>T uc002pkj.2 - 8 1296 c.748G>A c.(748-750)GTC>ATC p.V250I RASIP1_uc002pki.2_5'Flank|IZUMO1_uc010eme.2_RNA|IZUMO1_uc010emf.2_RNA NM_182575 NP_872381 Q8IYV9 IZUM1_HUMAN izumo sperm-egg fusion 1 precursor 250 Ig-like C2-type.|Extracellular (Potential). fusion of sperm to egg plasma membrane integral to membrane ovary(1) 1 all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022) TGACCTGTGACGTGAAAATTG 0.632 NA 9 27 0 0 0 0 IL4I1 259307 broad.mit.edu 37 19 50399101 50399101 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr19:50399101C>T uc002pqt.1 - 3 301 c.223G>A c.(223-225)GCC>ACC p.A75T IL4I1_uc002pqv.1_Missense_Mutation_p.A84T|IL4I1_uc010eno.1_Missense_Mutation_p.A83T|IL4I1_uc002pqw.1_Missense_Mutation_p.A83T|IL4I1_uc002pqu.1_Missense_Mutation_p.A97T NM_152899 NP_690863 Q96RQ9 OXLA_HUMAN interleukin 4 induced 1 isoform 1 precursor 75 lysosome L-amino-acid oxidase activity lung(1)|ovary(1)|prostate(1) 3 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169) AGCACCTTGGCGGCCACCAGC 0.637 NA 12 116 0 0 0 0 ZNF616 90317 broad.mit.edu 37 19 52619847 52619847 + Silent SNP A A G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr19:52619847A>G uc002pym.2 - 4 853 c.570T>C c.(568-570)TGT>TGC p.C190C ZNF616_uc002pyn.2_RNA NM_178523 NP_848618 Q08AN1 ZN616_HUMAN zinc finger protein 616 190 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) AGGCTTTGCCACATTCATTAC 0.373 NA 41 83 0 0 0 0 ADAM17 6868 broad.mit.edu 37 2 9666273 9666273 + Silent SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr2:9666273G>A uc002qzu.2 - 6 903 c.720C>T c.(718-720)GGC>GGT p.G240G ADAM17_uc010ewy.2_Silent_p.G240G|ADAM17_uc010ewz.2_Intron|ADAM17_uc010exa.2_5'Flank NM_003183 NP_003174 P78536 ADA17_HUMAN a disintegrin and metalloprotease domain 17 240 Peptidase M12B.|Extracellular (Potential). B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding lung(1)|kidney(1) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.225) CTTCCCCTCTGCCCATGTATC 0.383 NA 66 111 0 0 0 0 GTF3C2 2976 broad.mit.edu 37 2 27566417 27566417 + Missense_Mutation SNP T T A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr2:27566417T>A uc002rjv.1 - 3 368 c.5A>T c.(4-6)GAT>GTT p.D2V GTF3C2_uc002rju.1_Missense_Mutation_p.D13V|GTF3C2_uc002rjw.1_Missense_Mutation_p.D2V|GTF3C2_uc010eyz.1_Missense_Mutation_p.D2V NM_001521 NP_001512 Q8WUA4 TF3C2_HUMAN general transcription factor IIIC, polypeptide 2 transcription factor TFIIIC complex ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCCGCAGGTATCCATCAGCAC 0.517 NA 39 70 0 0 0 0 LTBP1 4052 broad.mit.edu 37 2 33588552 33588552 + Missense_Mutation SNP A A C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr2:33588552A>C uc002ros.2 + 29 4369 c.4369A>C c.(4369-4371)ACG>CCG p.T1457P LTBP1_uc002rot.2_Missense_Mutation_p.T1131P|LTBP1_uc002rou.2_Missense_Mutation_p.T1130P|LTBP1_uc002rov.2_Missense_Mutation_p.T1077P|LTBP1_uc010ymz.1_Missense_Mutation_p.T1088P|LTBP1_uc010yna.1_Missense_Mutation_p.T1035P|LTBP1_uc010ynb.1_Missense_Mutation_p.T354P NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 1456 EGF-like 15; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) TAAGCAAGGGACGTACTATGA 0.398 NA 14 92 0 0 0 0 PSME4 23198 broad.mit.edu 37 2 54155437 54155437 + Silent SNP T T C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr2:54155437T>C uc002rxp.2 - 11 1376 c.1320A>G c.(1318-1320)ACA>ACG p.T440T PSME4_uc010yop.1_Silent_p.T326T|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron NM_014614 NP_055429 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator 440 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|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|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding ovary(2)|breast(2)|pancreas(1) 5 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) ATGCAGGATATGTTCTACAGT 0.353 NA 4 24 0 0 0 0 CNNM3 26505 broad.mit.edu 37 2 97490833 97490833 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr2:97490833G>A uc002swy.2 + 2 1288 c.1264G>A c.(1264-1266)GAG>AAG p.E422K CNNM3_uc002swz.2_Intron NM_017623 NP_060093 Q8NE01 CNNM3_HUMAN cyclin M3 isoform 1 422 CBS 2. ion transport integral to membrane|plasma membrane protein binding ovary(1) 1 GGTGAACAACGAGGGTGAAGG 0.602 NA 6 34 0 0 0 0 TNFAIP6 7130 broad.mit.edu 37 2 152226720 152226720 + Missense_Mutation SNP A A C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr2:152226720A>C uc002txk.2 + 4 657 c.581A>C c.(580-582)GAA>GCA p.E194A NM_007115 NP_009046 P98066 TSG6_HUMAN tumor necrosis factor, alpha-induced protein 6 194 CUB. cell adhesion|cell-cell signaling|inflammatory response|signal transduction hyaluronic acid binding 0 BRCA - Breast invasive adenocarcinoma(221;0.131) GATTATGTTGAAATATATGAC 0.413 NA 32 166 0 0 0 0 PKP4 8502 broad.mit.edu 37 2 159488376 159488376 + Missense_Mutation SNP G G T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr2:159488376G>T uc002tzv.2 + 8 1525 c.1265G>T c.(1264-1266)AGC>ATC p.S422I PKP4_uc002tzt.1_Missense_Mutation_p.S274I|PKP4_uc002tzu.2_Missense_Mutation_p.S422I|PKP4_uc002tzw.2_Missense_Mutation_p.S422I|PKP4_uc002tzx.2_Missense_Mutation_p.S80I|PKP4_uc002tzy.1_Missense_Mutation_p.S80I|PKP4_uc002tzz.1_Missense_Mutation_p.S420I|PKP4_uc002uaa.2_Missense_Mutation_p.S274I NM_003628 NP_003619 Q99569 PKP4_HUMAN plakophilin 4 isoform a 422 ARM 1. cell adhesion desmosome protein binding ovary(5)|skin(2) 7 ACCTATTACAGCCCAGTGTAC 0.527 NA HNSCC(62;0.18) 22 62 1.96e-10 2.23e-10 1 0 LRP2 4036 broad.mit.edu 37 2 170060520 170060520 + Missense_Mutation SNP A A C rs78701402 TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr2:170060520A>C uc002ues.2 - 42 8190 c.7977T>G c.(7975-7977)AAT>AAG p.N2659K NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 2659 EGF-like 10.|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) TGCAGCCCCCATTAAACTGTT 0.428 NA 12 106 0 0 0 0 SP3 6670 broad.mit.edu 37 2 174819640 174819640 + Missense_Mutation SNP T T C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr2:174819640T>C uc002uig.2 - 4 1764 c.1600A>G c.(1600-1602)ATA>GTA p.I534V SP3_uc002uie.2_Missense_Mutation_p.I466V|SP3_uc002uif.2_Missense_Mutation_p.I481V|SP3_uc010zel.1_Missense_Mutation_p.I531V NM_003111 NP_003102 Q02447 SP3_HUMAN Sp3 transcription factor isoform 1 534 Repressor domain. negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body protein binding|zinc ion binding EWSR1/SP3(3) soft_tissue(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.185) TGTAGCTGTATACCAGCAGAA 0.423 NA 35 57 0 0 0 0 OLA1 29789 broad.mit.edu 37 2 175006625 175006625 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr2:175006625C>T uc002uih.2 - 5 663 c.477G>A c.(475-477)ATG>ATA p.M159I OLA1_uc002uii.2_Missense_Mutation_p.M1I|OLA1_uc010fqq.2_Missense_Mutation_p.M159I|OLA1_uc002uij.2_Missense_Mutation_p.M1I|OLA1_uc002uik.2_Missense_Mutation_p.M129I|OLA1_uc010fqr.2_Missense_Mutation_p.M159I NM_013341 NP_037473 Q9NTK5 OLA1_HUMAN Obg-like ATPase 1 isoform 1 159 ATP catabolic process cytoplasm ATP binding|GTP binding|hydrolase activity|protein binding ovary(1)|breast(1) 2 TGGGCCCAATCATTTCCTCAT 0.343 NA 16 87 0 0 0 0 TTC30A 92104 broad.mit.edu 37 2 178482633 178482633 + Missense_Mutation SNP T T A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr2:178482633T>A uc002ulo.2 - 1 1062 c.797A>T c.(796-798)AAC>ATC p.N266I NM_152275 NP_689488 Q86WT1 TT30A_HUMAN tetratricopeptide repeat domain 30A 266 cell projection organization cilium binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169) TACCTCATAGTTTCTCAGTTG 0.507 NA 40 80 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179449963 179449963 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr2:179449963C>T uc010zfg.1 - 258 57028 c.56804G>A c.(56803-56805)GGA>GAA p.G18935E uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G12630E|TTN_uc010zfi.1_Missense_Mutation_p.G12563E|TTN_uc010zfj.1_Missense_Mutation_p.G12438E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 19862 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) TTCATCTTCTCCTTTTTTCCA 0.423 NA 32 189 0 0 0 0 ORC2L 4999 broad.mit.edu 37 2 201798698 201798698 + Splice_Site SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr2:201798698C>T uc002uwr.2 - 10 966 c.709_splice c.e10-1 p.S237_splice ORC2L_uc010zhj.1_Splice_Site_p.S237_splice NM_006190 NP_006181 Q13416 ORC2_HUMAN origin recognition complex, subunit 2 cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm DNA replication origin binding|protein binding 0 CTAAGTCACTCTGAAAGTGAA 0.348 NA 14 73 0 0 0 0 TMC2 117532 broad.mit.edu 37 20 2621930 2621930 + Missense_Mutation SNP A A G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr20:2621930A>G uc002wgf.1 + 20 2669 c.2654A>G c.(2653-2655)CAC>CGC p.H885R TMC2_uc002wgg.1_Missense_Mutation_p.H869R NM_080751 NP_542789 Q8TDI7 TMC2_HUMAN transmembrane cochlear-expressed protein 2 885 Cytoplasmic (Potential). integral to membrane ovary(3) 3 GATTCTGGCCACGCCCCATCT 0.617 NA 3 47 0 0 0 0 ESF1 51575 broad.mit.edu 37 20 13698017 13698017 + Missense_Mutation SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr20:13698017C>G uc002woj.2 - 13 2368 c.2260G>C c.(2260-2262)GAG>CAG p.E754Q NM_016649 NP_057733 Q9H501 ESF1_HUMAN ABT1-associated protein 754 Lys-rich.|Potential. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|nucleoplasm ovary(1) 1 ATGGTTACCTCAAAGTCATCC 0.279 NA 17 830 0 0 0 0 ENTPD6 955 broad.mit.edu 37 20 25199204 25199204 + Silent SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr20:25199204G>A uc002wuj.2 + 10 1077 c.897G>A c.(895-897)CTG>CTA p.L299L ENTPD6_uc010zsy.1_Silent_p.L299L|ENTPD6_uc010gdj.1_Silent_p.L271L|ENTPD6_uc010zsz.1_Silent_p.L81L|ENTPD6_uc002wum.2_Silent_p.L282L|ENTPD6_uc010zta.1_Silent_p.L299L|ENTPD6_uc002wun.2_Silent_p.L299L|ENTPD6_uc002wuk.2_Silent_p.L298L|ENTPD6_uc002wul.2_Silent_p.L298L|ENTPD6_uc010ztb.1_Silent_p.L271L|ENTPD6_uc010ztc.1_Silent_p.L271L|ENTPD6_uc002wuo.2_Silent_p.L51L|ENTPD6_uc010ztd.1_Silent_p.L81L NM_001247 NP_001238 O75354 ENTP6_HUMAN ectonucleoside triphosphate diphosphohydrolase 6 299 Lumenal (Potential). Golgi membrane|integral to membrane nucleoside-diphosphatase activity 0 GGCTCGGGCTGATGTCGGCAC 0.657 NA 6 9 0 0 0 0 CDH4 1002 broad.mit.edu 37 20 60511842 60511842 + Silent SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr20:60511842C>T uc002ybn.1 + 16 2606 c.2592C>T c.(2590-2592)TCC>TCT p.S864S CDH4_uc002ybp.1_Silent_p.S790S|uc002ybr.1_5'Flank NM_001794 NP_001785 P55283 CADH4_HUMAN cadherin 4, type 1 preproprotein 864 Cytoplasmic (Potential). adherens junction organization|cell junction assembly calcium ion binding lung(3)|ovary(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) CCTATGACTCCCTGCTGGTCT 0.637 NA 22 22 0 0 0 0 RNF160 26046 broad.mit.edu 37 21 30357237 30357237 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr21:30357237C>T uc002ymr.2 - 4 503 c.490G>A c.(490-492)GAC>AAC p.D164N RNF160_uc010gll.1_RNA NM_015565 NP_056380 O94822 LTN1_HUMAN zinc finger protein 294 118 ligase activity|zinc ion binding 0 ACGCGACGGTCATGATCCTAT 0.348 NA 10 17 0 0 0 0 DONSON 29980 broad.mit.edu 37 21 34950680 34950680 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr21:34950680G>C uc002ysk.2 - 10 1701 c.1634C>G c.(1633-1635)CCG>CGG p.P545R DONSON_uc002ysi.1_Missense_Mutation_p.P305R|DONSON_uc002ysj.2_Missense_Mutation_p.P178R|DONSON_uc002ysl.2_Missense_Mutation_p.P178R|DONSON_uc010gme.2_Missense_Mutation_p.P518R|DONSON_uc002ysm.2_Missense_Mutation_p.P545R NM_017613 NP_060083 Q9NYP3 DONS_HUMAN downstream neighbor of SON 545 multicellular organismal development nucleus ovary(1)|central_nervous_system(1) 2 CCCAAGTAACGGTATTTGACT 0.403 NA 9 71 0 0 0 0 EWSR1 2130 broad.mit.edu 37 22 29695245 29695245 + Silent SNP C C T rs138837921 TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr22:29695245C>T uc003aet.2 + 15 1930 c.1602C>T c.(1600-1602)TTC>TTT p.F534F EWSR1_uc003aev.2_Silent_p.F539F|EWSR1_uc003aew.2_Silent_p.F478F|EWSR1_uc003aex.2_Silent_p.F533F|EWSR1_uc003aey.2_Silent_p.F329F|EWSR1_uc003aez.2_Silent_p.F195F NM_005243 NP_005234 Q01844 EWS_HUMAN Ewing sarcoma breakpoint region 1 isoform 2 534 RanBP2-type. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane calmodulin binding|nucleotide binding|RNA binding|zinc ion binding EWSR1/FLI1(2266)|EWSR1/ATF1(323)|EWSR1/WT1(231)|EWSR1/ERG(162)|EWSR1/NR4A3(140)|EWSR1/DDIT3(43)|EWSR1/CREB1(42)|EWSR1/FEV(10)|EWSR1/POU5F1(10)|EWSR1/ETV1(7)|EWSR1/ETV4(6)|EWSR1/ZNF384(4)|EWSR1/PBX1(3)|EWSR1/SP3(3)|EWSR1/PATZ1(2) bone(2526)|soft_tissue(702)|skin(8)|autonomic_ganglia(4)|haematopoietic_and_lymphoid_tissue(4)|salivary_gland(2)|central_nervous_system(2)|NS(2)|pancreas(2)|lung(1)|ovary(1) 3254 ACCAGAACTTCGCCTGGAGAA 0.512 NA T FLI1|ERG|ZNF278|NR4A3|FEV|ATF1|ETV1|ETV4|WT1|ZNF384|CREB1|POU5F1| PBX1 Ewing sarcoma| desmoplastic small round cell tumor |ALL|clear cell sarcoma|sarcoma|myoepithelioma 27 102 0 0 0 0 TBC1D10A 83874 broad.mit.edu 37 22 30722697 30722697 + Silent SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr22:30722697G>A uc011akt.1 - 1 198 c.174C>T c.(172-174)TTC>TTT p.F58F TBC1D10A_uc010gvu.2_Silent_p.F58F|TBC1D10A_uc003ahk.3_Silent_p.F58F NM_031937 NP_114143 Q9BXI6 TB10A_HUMAN TBC1 domain family, member 10A 58 intracellular|microvillus guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity ovary(1) 1 CGATGAAGCCGAACTTGTCGA 0.726 NA 10 24 0 0 0 0 CACNA1D 776 broad.mit.edu 37 3 53834348 53834348 + Nonsense_Mutation SNP G G T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr3:53834348G>T uc003dgv.3 + 41 5159 c.4996G>T c.(4996-4998)GAG>TAG p.E1666* CACNA1D_uc003dgu.3_Nonsense_Mutation_p.E1686*|CACNA1D_uc003dgy.3_Nonsense_Mutation_p.E1651*|CACNA1D_uc003dgw.3_Nonsense_Mutation_p.E1333*|CACNA1D_uc003dgx.1_Nonsense_Mutation_p.E842*|CACNA1D_uc011bes.1_RNA NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, 1666 Cytoplasmic (Potential). axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) GCAAGATGACGAGCCTGAGGA 0.463 NA 20 45 1.34e-09 1.51e-09 1 0 PDE12 201626 broad.mit.edu 37 3 57542169 57542169 + Silent SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr3:57542169G>A uc003diw.3 + 1 189 c.63G>A c.(61-63)CTG>CTA p.L21L PDE12_uc003div.2_Silent_p.L21L NM_177966 NP_808881 Q6L8Q7 PDE12_HUMAN phosphodiesterase 12 21 hydrolase activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127) TGGAGAAGCTGAGCCGGGCTG 0.692 NA 5 9 0 0 0 0 NFKBIZ 64332 broad.mit.edu 37 3 101573934 101573934 + Missense_Mutation SNP A A G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr3:101573934A>G uc003dvp.2 + 7 1587 c.1472A>G c.(1471-1473)AAT>AGT p.N491S NFKBIZ_uc003dvo.2_Missense_Mutation_p.N391S|NFKBIZ_uc010hpo.2_Missense_Mutation_p.N391S|NFKBIZ_uc003dvq.2_Missense_Mutation_p.N369S NM_031419 NP_113607 Q9BYH8 IKBZ_HUMAN nuclear factor of kappa light polypeptide gene 491 Interaction with NFKB1/p50 (By similarity).|ANK 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(2) 2 GTGGCTGCCAATCAGCATCTC 0.458 NA 21 102 0 0 0 0 CD96 10225 broad.mit.edu 37 3 111296359 111296359 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr3:111296359G>C uc003dxw.2 + 4 724 c.554G>C c.(553-555)AGC>ACC p.S185T CD96_uc003dxv.2_Intron|CD96_uc003dxx.2_Intron|CD96_uc010hpy.1_Intron NM_198196 NP_937839 P40200 TACT_HUMAN CD96 antigen isoform 1 precursor 185 Extracellular (Potential).|Ig-like V-type 2. cell adhesion|immune response|regulation of immune response integral to plasma membrane skin(2)|central_nervous_system(1) 3 GAAAACAGCAGCACGGATTCT 0.423 NA Opitz_Trigonocephaly_syndrome 62 331 0 0 0 0 ATP2C1 27032 broad.mit.edu 37 3 130715584 130715584 + Silent SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr3:130715584C>G uc003enl.2 + 24 2409 c.2187C>G c.(2185-2187)CTC>CTG p.L729L ATP2C1_uc011blg.1_Silent_p.L763L|ATP2C1_uc011blh.1_Silent_p.L724L|ATP2C1_uc011bli.1_Silent_p.L763L|ATP2C1_uc003enk.2_Silent_p.L713L|ATP2C1_uc003enm.2_Silent_p.L729L|ATP2C1_uc003enn.2_Silent_p.L713L|ATP2C1_uc003eno.2_Silent_p.L729L|ATP2C1_uc003enp.2_Silent_p.L729L|ATP2C1_uc003enq.2_Silent_p.L729L|ATP2C1_uc003enr.2_Silent_p.L729L|ATP2C1_uc003ens.2_Silent_p.L729L|ATP2C1_uc003ent.2_Silent_p.L729L|ATP2C1_uc003enu.2_Silent_p.L407L NM_014382 NP_055197 P98194 AT2C1_HUMAN calcium-transporting ATPase 2C1 isoform 1a 729 Lumenal (By similarity). actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity skin(1) 1 Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236) CTAATCCTCTCAATGCCATGC 0.363 NA Hailey-Hailey_disease 35 85 0 0 0 0 NPHP3 27031 broad.mit.edu 37 3 132435736 132435736 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr3:132435736C>T uc003epe.1 - 4 765 c.688G>A c.(688-690)GAA>AAA p.E230K NPHP3_uc003epf.1_5'UTR NM_153240 NP_694972 Q7Z494 NPHP3_HUMAN nephrocystin 3 230 maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding ovary(1) 1 GTCCAATATTCACATTGGGTT 0.443 NA 15 74 0 0 0 0 KY 339855 broad.mit.edu 37 3 134323141 134323141 + Silent SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr3:134323141G>A uc010hty.2 - 11 1328 c.1266C>T c.(1264-1266)TCC>TCT p.S422S KY_uc011blw.1_3'UTR|KY_uc011blx.1_Silent_p.S401S NM_178554 NP_848649 Q8NBH2 KY_HUMAN kyphoscoliosis peptidase 422 cytoskeleton|Z disc peptidase activity ovary(2) 2 TGTAGATGTCGGAGTTGCCCT 0.562 NA 8 60 0 0 0 0 AP2M1 1173 broad.mit.edu 37 3 183894784 183894784 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr3:183894784G>C uc011bqx.1 + 2 160 c.3G>C c.(1-3)ATG>ATC p.M1I AP2M1_uc003fmw.2_Missense_Mutation_p.M1I|AP2M1_uc003fmx.2_Missense_Mutation_p.M1I|AP2M1_uc003fmy.2_Missense_Mutation_p.M1I NM_004068 NP_004059 Q96CW1 AP2M1_HUMAN adaptor-related protein complex 2, mu 1 subunit 1 axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane lipid binding|protein binding|transporter activity 0 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CTGCCGCCATGATTGGAGGCT 0.582 NA 6 38 0 0 0 0 DGKQ 1609 broad.mit.edu 37 4 959312 959312 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr4:959312C>T uc003gbw.2 - 14 1659 c.1585G>A c.(1585-1587)GTG>ATG p.V529M DGKQ_uc010ibn.2_Intron NM_001347 NP_001338 P52824 DGKQ_HUMAN diacylglycerol kinase, theta 529 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway cytoskeleton|cytosol|nuclear speck|plasma membrane activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding kidney(1) 1 OV - Ovarian serous cystadenocarcinoma(23;0.0158) ACGGACACCACGGTGGCTGCA 0.652 NA 3 25 0 0 0 0 CRIPAK 285464 broad.mit.edu 37 4 1389375 1389375 + Missense_Mutation SNP T T C rs35263928 TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr4:1389375T>C uc003gdf.2 + 1 4036 c.1076T>C c.(1075-1077)GTG>GCG p.V359A NM_175918 NP_787114 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 359 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding 0 OV - Ovarian serous cystadenocarcinoma(23;0.0106) CGTGCCCATGTGGAGTGCCCG 0.652 NA 4 202 0 0 0 0 SLC2A9 56606 broad.mit.edu 37 4 9828063 9828063 + Silent SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr4:9828063G>A uc003gmc.2 - 12 1642 c.1581C>T c.(1579-1581)ATC>ATT p.I527I SLC2A9_uc003gmd.2_Silent_p.I498I NM_020041 NP_064425 Q9NRM0 GTR9_HUMAN solute carrier family 2, member 9 protein 527 Cytoplasmic (Potential). glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity ovary(3) 3 CAGCTGAGTCGATTTTCTCTT 0.423 NA 40 77 0 0 0 0 NKX3-2 579 broad.mit.edu 37 4 13544126 13544126 + Missense_Mutation SNP C C T rs61795263 TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr4:13544126C>T uc003gmx.2 - 2 569 c.493G>A c.(493-495)GAC>AAC p.D165N NM_001189 NP_001180 P78367 NKX32_HUMAN NK3 homeobox 2 165 negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CCAACACCGTCGTCCTCGGTC 0.463 NA 4 20 0 0 0 0 PF4 5196 broad.mit.edu 37 4 74846999 74846999 + Silent SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr4:74846999C>T uc003hhi.2 - 3 273 c.228G>A c.(226-228)CTG>CTA p.L76L NM_002619 NP_002610 P02776 PLF4_HUMAN platelet factor 4 (chemokine (C-X-C motif) 76 cytokine-mediated signaling pathway|immune response|leukocyte chemotaxis|negative regulation of angiogenesis|negative regulation of apoptosis|negative regulation of cytolysis|negative regulation of megakaryocyte differentiation|negative regulation of MHC class II biosynthetic process|platelet activation|platelet degranulation|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of tumor necrosis factor production extracellular space|platelet alpha granule lumen chemokine activity|heparin binding 0 Breast(15;0.00136) all cancers(17;0.0034)|Lung(101;0.196) Drotrecogin alfa(DB00055) TTCCATTCTTCAGCGTGGCTC 0.488 NA 9 87 0 0 0 0 KLHL8 57563 broad.mit.edu 37 4 88106900 88106900 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr4:88106900G>A uc011cdb.1 - 3 653 c.268C>T c.(268-270)CCC>TCC p.P90S KLHL8_uc003hql.1_Missense_Mutation_p.P90S|KLHL8_uc003hqm.1_Intron|KLHL8_uc003hqn.1_Intron|KLHL8_uc010ikj.1_Intron NM_020803 NP_065854 Q9P2G9 KLHL8_HUMAN kelch-like 8 90 BTB. 0 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000603) CTAAAGTAGGGAATAACACAA 0.373 NA 6 11 0 0 0 0 FAT1 2195 broad.mit.edu 37 4 187538164 187538164 + Nonsense_Mutation SNP C C A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr4:187538164C>A uc003izf.2 - 11 9258 c.9070G>T c.(9070-9072)GAA>TAA p.E3024* NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 3024 Extracellular (Potential).|Cadherin 28. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 CTTACCTTTTCACAAACTGGA 0.388 NA HNSCC(5;0.00058) 13 22 7.93e-07 8.71e-07 1 0 NUDT12 83594 broad.mit.edu 37 5 102894586 102894586 + Missense_Mutation SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr5:102894586C>G uc003koi.2 - 3 883 c.790G>C c.(790-792)GAA>CAA p.E264Q NUDT12_uc011cvb.1_Missense_Mutation_p.E246Q NM_031438 NP_113626 Q9BQG2 NUD12_HUMAN nudix-type motif 12 264 nucleus|peroxisome metal ion binding|NAD+ diphosphatase activity 0 all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423) Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221) TTACCAGCTTCTTTTTCTTTC 0.373 NA 3 7 0 0 0 0 APC 324 broad.mit.edu 37 5 112176368 112176368 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr5:112176368G>A uc010jby.2 + 16 5457 c.5077G>A c.(5077-5079)GAA>AAA p.E1693K APC_uc011cvt.1_Missense_Mutation_p.E1675K|APC_uc003kpz.3_Missense_Mutation_p.E1693K|APC_uc003kpy.3_Missense_Mutation_p.E1693K|APC_uc010jbz.2_Missense_Mutation_p.E1410K|APC_uc010jca.2_Missense_Mutation_p.E993K NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 1693 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.K1192fs*3(1)|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) CATTCCTACAGAAGGCAGAAG 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) 4 17 0 0 0 0 APC 324 broad.mit.edu 37 5 112177885 112177885 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr5:112177885G>C uc010jby.2 + 16 6974 c.6594G>C c.(6592-6594)TTG>TTC p.L2198F APC_uc011cvt.1_Missense_Mutation_p.L2180F|APC_uc003kpz.3_Missense_Mutation_p.L2198F|APC_uc003kpy.3_Missense_Mutation_p.L2198F|APC_uc010jbz.2_Missense_Mutation_p.L1915F|APC_uc010jca.2_Missense_Mutation_p.L1498F NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 2198 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) ATAAAAGTTTGATTACTGGAA 0.358 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) 13 36 0 0 0 0 APC 324 broad.mit.edu 37 5 112178407 112178407 + Missense_Mutation SNP G G T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr5:112178407G>T uc010jby.2 + 16 7496 c.7116G>T c.(7114-7116)CAG>CAT p.Q2372H APC_uc011cvt.1_Missense_Mutation_p.Q2354H|APC_uc003kpz.3_Missense_Mutation_p.Q2372H|APC_uc003kpy.3_Missense_Mutation_p.Q2372H|APC_uc010jbz.2_Missense_Mutation_p.Q2089H|APC_uc010jca.2_Missense_Mutation_p.Q1672H NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 2372 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) CAGGTAGACAGATGAGCCAAC 0.403 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) 14 34 1.58e-08 1.77e-08 1 0 APC 324 broad.mit.edu 37 5 112178579 112178579 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr5:112178579G>C uc010jby.2 + 16 7668 c.7288G>C c.(7288-7290)GAT>CAT p.D2430H APC_uc011cvt.1_Missense_Mutation_p.D2412H|APC_uc003kpz.3_Missense_Mutation_p.D2430H|APC_uc003kpy.3_Missense_Mutation_p.D2430H|APC_uc010jbz.2_Missense_Mutation_p.D2147H|APC_uc010jca.2_Missense_Mutation_p.D1730H NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 2430 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) AAGTGAATCTGATAGATCAGA 0.373 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) 17 34 0 0 0 0 PCDHB10 56126 broad.mit.edu 37 5 140572793 140572793 + Missense_Mutation SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr5:140572793C>G uc003lix.2 + 1 842 c.668C>G c.(667-669)TCT>TGT p.S223C NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN protocadherin beta 10 precursor 223 Cadherin 2.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCATCCAGGTCTGGGACCTCT 0.552 NA 28 70 0 0 0 0 GRIA1 2890 broad.mit.edu 37 5 153085627 153085627 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr5:153085627G>A uc003lva.3 + 11 2188 c.1823G>A c.(1822-1824)AGG>AAG p.R608K GRIA1_uc003luy.3_Missense_Mutation_p.R608K|GRIA1_uc003luz.3_Missense_Mutation_p.R513K|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.R528K|GRIA1_uc011dcx.1_Missense_Mutation_p.R539K|GRIA1_uc011dcy.1_Missense_Mutation_p.R618K|GRIA1_uc011dcz.1_Missense_Mutation_p.R618K|GRIA1_uc010jia.1_Missense_Mutation_p.R588K NM_001114183 NP_001107655 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 isoform 608 Cytoplasmic (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) ATTTCTCCCAGGTCAGTCAGC 0.373 NA 31 22 0 0 0 0 WWC1 23286 broad.mit.edu 37 5 167887709 167887709 + Nonsense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr5:167887709C>T uc003lzu.2 + 20 2971 c.2878C>T c.(2878-2880)CGA>TGA p.R960* WWC1_uc003lzv.2_Nonsense_Mutation_p.R960*|WWC1_uc011den.1_Nonsense_Mutation_p.R960*|WWC1_uc003lzw.2_Nonsense_Mutation_p.R759*|WWC1_uc010jjf.1_Nonsense_Mutation_p.R232* NM_015238 NP_056053 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 isoform 3 960 Interaction with PRKCZ.|Interaction with histone H3. cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity ovary(2)|skin(2)|breast(1) 5 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) ACCTTTTGTTCGAAACTCCCT 0.507 NA 13 11 0 0 0 0 DOCK2 1794 broad.mit.edu 37 5 169144446 169144446 + Missense_Mutation SNP A A G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr5:169144446A>G uc003maf.2 + 21 2170 c.2090A>G c.(2089-2091)GAG>GGG p.E697G DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.E189G NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 697 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACCGTTCTGGAGGCTTACATC 0.463 NA 7 137 0 0 0 0 RIPK1 8737 broad.mit.edu 37 6 3105891 3105891 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr6:3105891G>C uc010jni.2 + 9 1414 c.1182G>C c.(1180-1182)CAG>CAC p.Q394H RIPK1_uc003muv.3_Missense_Mutation_p.Q231H|RIPK1_uc003muw.3_Missense_Mutation_p.Q329H|RIPK1_uc011dhs.1_Missense_Mutation_p.Q348H|RIPK1_uc003mux.2_Missense_Mutation_p.Q394H NM_003804 NP_003795 Q13546 RIPK1_HUMAN receptor (TNFRSF)-interacting serine-threonine 394 Interaction with SQSTM1. activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity large_intestine(3)|lung(1)|skin(1) 5 Ovarian(93;0.0386) all_hematologic(90;0.0895) TGGACAGGCAGACGAAACAGC 0.532 NA 26 65 0 0 0 0 HIVEP1 3096 broad.mit.edu 37 6 12122650 12122650 + Missense_Mutation SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr6:12122650C>G uc003nac.2 + 4 2801 c.2622C>G c.(2620-2622)TTC>TTG p.F874L HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 874 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) TTGGCACTTTCTATGATGATG 0.473 NA 24 134 0 0 0 0 HIST1H2BD 3017 broad.mit.edu 37 6 26158508 26158508 + Missense_Mutation SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr6:26158508C>G uc003ngr.2 + 1 160 c.111C>G c.(109-111)AGC>AGG p.S37R HIST1H2BD_uc003ngs.2_Missense_Mutation_p.S37R NM_021063 NP_066407 P58876 H2B1D_HUMAN histone cluster 1, H2bd 37 nucleosome assembly nucleosome|nucleus DNA binding ovary(1)|pancreas(1) 2 GCAAGGAGAGCTATTCAGTGT 0.542 NA 17 166 0 0 0 0 TAF8 129685 broad.mit.edu 37 6 42036204 42036204 + Silent SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr6:42036204G>A uc003ors.2 + 7 668 c.639G>A c.(637-639)TTG>TTA p.L213L TAF8_uc003ort.2_Silent_p.L213L|TAF8_uc003oru.1_Silent_p.L213L|TAF8_uc003orv.1_Silent_p.L213L|TAF8_uc011dun.1_Intron NM_138572 NP_612639 Q7Z7C8 TAF8_HUMAN TBP-associated factor 8 213 cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent perinuclear region of cytoplasm|transcription factor TFIID complex DNA binding|protein binding ovary(1) 1 Colorectal(47;0.196) STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179) ATTCGCCAGTGATTGCTGCCA 0.522 NA 54 395 0 0 0 0 ABCC10 89845 broad.mit.edu 37 6 43413457 43413457 + Missense_Mutation SNP G G T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr6:43413457G>T uc003ouy.1 + 15 3366 c.3151G>T c.(3151-3153)GCA>TCA p.A1051S ABCC10_uc003ouz.1_Missense_Mutation_p.A1023S|ABCC10_uc010jyo.1_Missense_Mutation_p.A157S NM_033450 NP_258261 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C, member 10 1051 ABC transmembrane type-1 2.|Helical; (Potential). integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(6)|central_nervous_system(1) 7 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) GGCCAACGCGGCAGGCCTGCT 0.647 NA 8 56 0.000157383 0.000167353 1 0 HTR1E 3354 broad.mit.edu 37 6 87726086 87726086 + Missense_Mutation SNP C C A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr6:87726086C>A uc003pli.2 + 2 1737 c.1034C>A c.(1033-1035)ACG>AAG p.T345K NM_000865 NP_000856 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E 345 Helical; Name=7; (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity ovary(2)|skin(1) 3 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) CTGCTCTATACGAGTTTTAAT 0.438 NA 14 51 2e-07 2.22e-07 1 0 EPHA7 2045 broad.mit.edu 37 6 94120310 94120310 + Silent SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr6:94120310C>T uc003poe.2 - 3 982 c.741G>A c.(739-741)AGG>AGA p.R247R EPHA7_uc003pof.2_Silent_p.R247R|EPHA7_uc011eac.1_Silent_p.R247R|EPHA7_uc003pog.3_Silent_p.R247R NM_004440 NP_004431 Q15375 EPHA7_HUMAN ephrin receptor EphA7 precursor 247 Extracellular (Potential).|Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1) 28 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) TGCAGTGCATCCTGGGGGCGT 0.473 NA 9 37 0 0 0 0 FOXO3 2309 broad.mit.edu 37 6 108984767 108984767 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr6:108984767G>C uc003psk.2 + 3 1047 c.731G>C c.(730-732)GGA>GCA p.G244A FOXO3_uc003psn.2_Intron|FOXO3_uc003psm.2_Missense_Mutation_p.G244A|FOXO3_uc011ean.1_Missense_Mutation_p.G24A|FOXO3_uc010kdj.1_Missense_Mutation_p.G24A NM_201559 NP_963853 O43524 FOXO3_HUMAN forkhead box O3A 244 Fork-head.|Nuclear localization signal. PDGGKSGKA -> LMGEERKT (in Ref. 5; CAA04860). antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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 factor binding central_nervous_system(4)|lung(2) 6 all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152) Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718) GGGAAGAGCGGAAAAGCCCCC 0.592 NA 9 19 0 0 0 0 ROS1 6098 broad.mit.edu 37 6 117681060 117681060 + Missense_Mutation SNP A A G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr6:117681060A>G uc003pxp.1 - 23 3759 c.3560T>C c.(3559-3561)GTT>GCT p.V1187A ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 1187 Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TGTGTAGCAAACGGCACTGAT 0.403 NA T GOPC|ROS1 glioblastoma|NSCLC 13 83 0 0 0 0 C6orf97 80129 broad.mit.edu 37 6 151936765 151936765 + Missense_Mutation SNP T T C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr6:151936765T>C uc003qol.2 + 10 1987 c.1898T>C c.(1897-1899)ATG>ACG p.M633T NM_025059 NP_079335 Q8IYT3 CF097_HUMAN hypothetical protein LOC80129 633 Potential. 0 Ovarian(120;0.126) BRCA - Breast invasive adenocarcinoma(37;0.111) OV - Ovarian serous cystadenocarcinoma(155;1.48e-10) ACCAGTGAAATGAAGACACTA 0.398 NA 38 45 0 0 0 0 FAM188B 84182 broad.mit.edu 37 7 30818091 30818091 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr7:30818091G>A uc003tbt.2 + 2 184 c.107G>A c.(106-108)CGC>CAC p.R36H FAM188B_uc010kwe.2_Missense_Mutation_p.R7H NM_032222 NP_115598 Q4G0A6 F188B_HUMAN hypothetical protein LOC84182 36 0 GAACGCCCACGCTCTGACCTC 0.438 NA 15 62 0 0 0 0 VPS41 27072 broad.mit.edu 37 7 38781699 38781699 + Missense_Mutation SNP G G T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr7:38781699G>T uc003tgy.2 - 25 2171 c.2145C>A c.(2143-2145)AAC>AAA p.N715K VPS41_uc003tgz.2_Missense_Mutation_p.N690K|VPS41_uc010kxn.2_Missense_Mutation_p.N626K|VPS41_uc003tgx.2_RNA NM_014396 NP_055211 P49754 VPS41_HUMAN vacuolar protein sorting 41 isoform 1 715 Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction zinc ion binding skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 TGCCAATGTTGTTTAACAAGC 0.323 NA 6 27 0.000274275 0.000290992 1 0 PKD1L1 168507 broad.mit.edu 37 7 47882701 47882701 + Silent SNP G G T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr7:47882701G>T uc003tny.1 - 34 5304 c.5304C>A c.(5302-5304)GTC>GTA p.V1768V NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 1768 Helical; (Potential). cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 TACTTTTAGCGACCAAAAATC 0.388 NA 10 21 2.18e-05 2.37e-05 1 0 SEMA3A 10371 broad.mit.edu 37 7 83610760 83610760 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr7:83610760G>A uc003uhz.2 - 14 1844 c.1529C>T c.(1528-1530)GCC>GTC p.A510V NM_006080 NP_006071 Q14563 SEM3A_HUMAN semaphorin 3A precursor 510 Sema. axon guidance extracellular region|membrane receptor activity ovary(2)|breast(1)|kidney(1) 4 AGGGAGCTGGGCAACCCCAGC 0.453 NA 6 25 0 0 0 0 FZD1 8321 broad.mit.edu 37 7 90895581 90895581 + Silent SNP C C T rs150597135 TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr7:90895581C>T uc003ula.2 + 1 1799 c.1386C>T c.(1384-1386)ATC>ATT p.I462I NM_003505 NP_003496 Q9UP38 FZD1_HUMAN frizzled 1 precursor 462 Helical; Name=4; (Potential). autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding 0 all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215) STAD - Stomach adenocarcinoma(171;0.0134) CCATCACCATCCTGGCGCTGG 0.647 NA 27 86 0 0 0 0 AKAP9 10142 broad.mit.edu 37 7 91632007 91632007 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr7:91632007G>C uc003ulg.2 + 8 3001 c.2776G>C c.(2776-2778)GAA>CAA p.E926Q AKAP9_uc003ule.2_Missense_Mutation_p.E938Q|AKAP9_uc003ulf.2_Missense_Mutation_p.E926Q|AKAP9_uc003uli.2_Missense_Mutation_p.E551Q NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 938 Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TTTTGTAGCAGAAACATTGGA 0.358 NA T BRAF papillary thyroid 9 38 0 0 0 0 PEX1 5189 broad.mit.edu 37 7 92147568 92147568 + Missense_Mutation SNP T T C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr7:92147568T>C uc003uly.2 - 4 455 c.359A>G c.(358-360)GAG>GGG p.E120G PEX1_uc011khr.1_5'UTR|PEX1_uc010ley.2_Missense_Mutation_p.E120G|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_5'Flank NM_000466 NP_000457 O43933 PEX1_HUMAN peroxin1 120 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding ovary(1)|central_nervous_system(1) 2 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) AGCATGCAGCTCCTAGAACCA 0.303 NA 24 36 0 0 0 0 SGCE 8910 broad.mit.edu 37 7 94257653 94257653 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr7:94257653G>A uc003unl.2 - 3 362 c.251C>T c.(250-252)CCC>CTC p.P84L SGCE_uc003unm.2_Missense_Mutation_p.P84L|SGCE_uc003unn.2_Missense_Mutation_p.P84L|SGCE_uc011kic.1_Missense_Mutation_p.P43L|SGCE_uc011kid.1_Missense_Mutation_p.P120L NM_003919 NP_003910 O43556 SGCE_HUMAN sarcoglycan, epsilon isoform 2 84 Extracellular (Potential). cell-matrix adhesion|muscle organ development cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma calcium ion binding ovary(1) 1 all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) AAATGTTATGGGATCATTACT 0.368 NA 13 22 0 0 0 0 BRAF 673 broad.mit.edu 37 7 140501295 140501295 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr7:140501295G>C uc003vwc.3 - 6 838 c.777C>G c.(775-777)TTC>TTG p.F259L NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 259 Phorbol-ester/DAG-type. activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2) thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1) 18290 Melanoma(164;0.00956) Sorafenib(DB00398) TTTGACAGCGGAAACCCTGGA 0.358 61 Mis|T|O AKAP9|KIAA1549 melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma Cardio-facio-cutaneous syndrome Cardiofaciocutaneous_syndrome 5 31 0 0 0 0 CHPF2 54480 broad.mit.edu 37 7 150935153 150935153 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr7:150935153G>C uc003wjr.1 + 4 3218 c.1705G>C c.(1705-1707)GAG>CAG p.E569Q CHPF2_uc003wjq.1_Missense_Mutation_p.E561Q|MIR671_hsa-mir-671|MI0003760_5'Flank NM_019015 NP_061888 Q9P2E5 CHPF2_HUMAN chondroitin polymerizing factor 2 569 Lumenal (Potential). Golgi cisterna membrane|integral to membrane N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity ovary(1) 1 TGTGCGAGCAGAGGCCCCTTC 0.632 NA 6 43 0 0 0 0 GALNT11 63917 broad.mit.edu 37 7 151798008 151798008 + Splice_Site SNP T T C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr7:151798008T>C uc010lqg.1 + 3 649 c.419_splice c.e3+2 p.A140_splice GALNT11_uc011kvm.1_Splice_Site_p.A59_splice|GALNT11_uc003wku.2_Splice_Site_p.A140_splice|GALNT11_uc003wkv.1_Splice_Site_p.A140_splice|GALNT11_uc011kvn.1_Intron NM_022087 NP_071370 Q8NCW6 GLT11_HUMAN N-acetylgalactosaminyltransferase 11 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding 0 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.214) OV - Ovarian serous cystadenocarcinoma(82;0.00168) UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932) GAATGCAGCGTATGTGCCTTA 0.448 NA 3 123 0 0 0 0 CSGALNACT1 55790 broad.mit.edu 37 8 19315939 19315939 + Silent SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr8:19315939G>A uc011kyn.1 - 5 1913 c.849C>T c.(847-849)TTC>TTT p.F283F CSGALNACT1_uc011kyo.1_Silent_p.F283F|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Silent_p.F282F|CSGALNACT1_uc003wzh.2_RNA NM_001130518 NP_001123990 Q8TDX6 CGAT1_HUMAN chondroitin sulfate 283 Lumenal (Potential). anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process Golgi cisterna membrane|integral to Golgi membrane|soluble fraction glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity central_nervous_system(2)|ovary(1) 3 Colorectal(111;0.182) AAACCAACCTGAAATTCTGCA 0.443 NA 46 141 0 0 0 0 HR 55806 broad.mit.edu 37 8 21973860 21973860 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr8:21973860G>A uc003xas.2 - 18 4125 c.3460C>T c.(3460-3462)CAC>TAC p.H1154Y HR_uc003xat.2_Missense_Mutation_p.H1099Y NM_005144 NP_005135 O43593 HAIR_HUMAN hairless protein isoform a 1154 JmjC. DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(1) 2 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) GGTCCCTGGTGGCAGAGCTGA 0.647 NA 11 13 0 0 0 0 NEFL 4747 broad.mit.edu 37 8 24813613 24813613 + Nonsense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr8:24813613G>C uc003xee.2 - 1 519 c.417C>G c.(415-417)TAC>TAG p.Y139* NM_006158 NP_006149 P07196 NFL_HUMAN neurofilament, light polypeptide 68kDa 139 Rod.|Coil 1B. anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission cytosol|neurofilament identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton ovary(1)|central_nervous_system(1) 2 Ovarian(32;0.00965)|Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) TCTCCTGCTCGTACAGCGCCC 0.682 NA 4 11 0 0 0 0 ZFHX4 79776 broad.mit.edu 37 8 77616773 77616773 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr8:77616773G>C uc003yav.2 + 2 837 c.450G>C c.(448-450)CAG>CAC p.Q150H ZFHX4_uc003yat.1_Missense_Mutation_p.Q150H|ZFHX4_uc003yau.1_Missense_Mutation_p.Q150H|ZFHX4_uc003yaw.1_Missense_Mutation_p.Q150H NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 150 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) AAAGTGGGCAGAATGCACAGA 0.488 NA HNSCC(33;0.089) 27 21 0 0 0 0 TMEM64 169200 broad.mit.edu 37 8 91643854 91643854 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr8:91643854C>T uc003yen.2 - 2 877 c.877G>A c.(877-879)GGT>AGT p.G293S TMEM64_uc003yeo.2_Missense_Mutation_p.G32S|TMEM64_uc011lgf.1_Intron NM_001008495 NP_001008495 Q6YI46 TMM64_HUMAN transmembrane protein 64 isoform 1 293 integral to membrane 0 BRCA - Breast invasive adenocarcinoma(11;0.0598) AGGGTGGTACCCAAGTAAGAA 0.423 NA 106 51 0 0 0 0 KIAA1429 25962 broad.mit.edu 37 8 95507153 95507153 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr8:95507153C>T uc003ygo.1 - 20 4589 c.4576G>A c.(4576-4578)GAT>AAT p.D1526N KIAA1429_uc010maz.1_RNA NM_015496 NP_056311 Q69YN4 VIR_HUMAN hypothetical protein LOC25962 isoform 1 1526 mRNA processing|RNA splicing nucleus ovary(1)|skin(1) 2 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) TTCAACTGATCATCCATGACA 0.308 NA 6 291 0 0 0 0 KCNV1 27012 broad.mit.edu 37 8 110984685 110984685 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr8:110984685G>A uc003ynr.3 - 2 1135 c.793C>T c.(793-795)CGG>TGG p.R265W KCNV1_uc010mcw.2_Missense_Mutation_p.R265W NM_014379 NP_055194 Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 265 Cytoplasmic (Potential). voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity lung(1)|kidney(1) 2 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) CACCTGTCCCGCACACACAGG 0.532 NA 38 46 0 0 0 0 PTK2 5747 broad.mit.edu 37 8 141874416 141874416 + Nonsense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr8:141874416G>A uc003yvu.2 - 5 675 c.445C>T c.(445-447)CAA>TAA p.Q149* PTK2_uc003yvr.2_Nonsense_Mutation_p.Q48*|PTK2_uc003yvs.2_Nonsense_Mutation_p.Q149*|PTK2_uc003yvt.2_Nonsense_Mutation_p.Q171*|PTK2_uc003yvv.2_Nonsense_Mutation_p.Q36*|PTK2_uc011ljr.1_Nonsense_Mutation_p.Q149* NM_153831 NP_722560 Q05397 FAK1_HUMAN PTK2 protein tyrosine kinase 2 isoform a 149 FERM. axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly cytoskeleton|cytosol|focal adhesion ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity ovary(2)|lung(2)|central_nervous_system(1)|skin(1) 6 all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;2.72e-05)|Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.137) AATACCTGTTGATAGAAGAAA 0.264 NA 11 134 0 0 0 0 KIAA1432 57589 broad.mit.edu 37 9 5763345 5763345 + Missense_Mutation SNP A A G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr9:5763345A>G uc003zji.2 + 18 2174 c.2081A>G c.(2080-2082)CAC>CGC p.H694R KIAA1432_uc003zjh.2_Missense_Mutation_p.H694R|KIAA1432_uc003zjl.3_Missense_Mutation_p.H657R|KIAA1432_uc003zjj.1_Missense_Mutation_p.H236R NM_020829 NP_065880 Q4ADV7 RIC1_HUMAN connexin 43-interacting protein 150 isoform a 773 integral to membrane 0 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) CTGCCTTTCCACATCAACATT 0.478 NA 41 67 0 0 0 0 KIAA1432 57589 broad.mit.edu 37 9 5763371 5763371 + Missense_Mutation SNP C C A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr9:5763371C>A uc003zji.2 + 18 2200 c.2107C>A c.(2107-2109)CTG>ATG p.L703M KIAA1432_uc003zjh.2_Missense_Mutation_p.L703M|KIAA1432_uc003zjl.3_Missense_Mutation_p.L666M|KIAA1432_uc003zjj.1_Missense_Mutation_p.L245M NM_020829 NP_065880 Q4ADV7 RIC1_HUMAN connexin 43-interacting protein 150 isoform a 782 integral to membrane 0 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) GCTAGCTGTTCTGTTTGAAGA 0.478 NA 47 82 1.33e-27 1.57e-27 1 0 KIAA1432 57589 broad.mit.edu 37 9 5765734 5765734 + Missense_Mutation SNP G G T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr9:5765734G>T uc003zji.2 + 20 2929 c.2836G>T c.(2836-2838)GTT>TTT p.V946F KIAA1432_uc003zjh.2_Missense_Mutation_p.V946F|KIAA1432_uc003zjl.3_Missense_Mutation_p.V909F|KIAA1432_uc003zjj.1_Missense_Mutation_p.V488F|ERMP1_uc011lme.1_RNA NM_020829 NP_065880 Q4ADV7 RIC1_HUMAN connexin 43-interacting protein 150 isoform a 1025 integral to membrane 0 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) AGCTGAAAATGTTCCTGCCAG 0.408 NA 6 48 1.26e-09 1.43e-09 1 0 ZNF462 58499 broad.mit.edu 37 9 109688481 109688481 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr9:109688481G>C uc004bcz.2 + 3 2577 c.2288G>C c.(2287-2289)AGA>ACA p.R763T ZNF462_uc010mto.2_Missense_Mutation_p.R611T|ZNF462_uc004bda.2_Missense_Mutation_p.R611T NM_021224 NP_067047 Q96JM2 ZN462_HUMAN zinc finger protein 462 763 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 ATATGGGTAAGAGATACCAGT 0.488 NA 7 30 0 0 0 0 HDHD3 81932 broad.mit.edu 37 9 116136274 116136274 + Silent SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr9:116136274G>A uc004bhi.1 - 2 1145 c.361C>T c.(361-363)CTG>TTG p.L121L HDHD3_uc004bhj.2_Silent_p.L121L|HDHD3_uc004bhk.2_Silent_p.L121L NM_031219 NP_112496 Q9BSH5 HDHD3_HUMAN haloacid dehalogenase-like hydrolase domain 121 phosphoglycolate phosphatase activity|protein binding 0 CACTCCCTCAGGGTGTCCTCA 0.602 NA 27 102 0 0 0 0 TNFSF8 944 broad.mit.edu 37 9 117666585 117666585 + Missense_Mutation SNP T T C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr9:117666585T>C uc004bji.1 - 4 518 c.331A>G c.(331-333)ACC>GCC p.T111A NM_001244 NP_001235 P32971 TNFL8_HUMAN tumor necrosis factor (ligand) superfamily, 111 Extracellular (Potential). cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction extracellular space|integral to plasma membrane cytokine activity|tumor necrosis factor receptor binding lung(3)|skin(2)|ovary(1) 6 GACAACTTGGTTTTGTTTAGA 0.378 NA 48 46 0 0 0 0 STRBP 55342 broad.mit.edu 37 9 125909210 125909210 + Missense_Mutation SNP G G T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr9:125909210G>T uc004bns.2 - 13 1692 c.1262C>A c.(1261-1263)TCT>TAT p.S421Y STRBP_uc004bnt.2_Missense_Mutation_p.S239Y|STRBP_uc004bnu.2_Missense_Mutation_p.S407Y|STRBP_uc004bnv.2_Missense_Mutation_p.S421Y|STRBP_uc004bnr.2_Missense_Mutation_p.S33Y NM_018387 NP_060857 Q96SI9 STRBP_HUMAN spermatid perinuclear RNA binding protein 421 DRBM 1. multicellular organismal development cytoplasm|nucleus DNA binding breast(1)|skin(1) 2 CACATCTACAGACATTGTGAA 0.453 NA 27 56 2.66e-16 3.12e-16 1 0 LRRC8A 56262 broad.mit.edu 37 9 131669481 131669481 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr9:131669481C>T uc004bwl.3 + 3 292 c.38C>T c.(37-39)ACG>ATG p.T13M LRRC8A_uc010myp.2_Missense_Mutation_p.T13M|LRRC8A_uc010myq.2_Missense_Mutation_p.T13M NM_019594 NP_062540 Q8IWT6 LRC8A_HUMAN leucine rich repeat containing 8 family, member 13 pre-B cell differentiation integral to membrane 0 TTTGCGGACACGCAGCCAGCA 0.567 NA 9 20 0 0 0 0 PHKA2 5256 broad.mit.edu 37 X 18912411 18912411 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chrX:18912411G>A uc004cyv.3 - 32 3878 c.3448C>T c.(3448-3450)CTC>TTC p.L1150F uc004cyt.2_RNA|PHKA2_uc004cyu.3_Missense_Mutation_p.L456F|PHKA2_uc010nfe.1_Missense_Mutation_p.L182F|PHKA2_uc010nff.1_RNA NM_000292 NP_000283 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 1150 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity ovary(1)|central_nervous_system(1) 2 Hepatocellular(33;0.183) GTGTCCGAGAGCAGCGTCAGC 0.612 NA 28 12 0 0 0 0 TAF7L 54457 broad.mit.edu 37 X 100547854 100547854 + Silent SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chrX:100547854G>A uc004ehb.2 - 1 192 c.180C>T c.(178-180)GAC>GAT p.D60D TAF7L_uc004ehc.1_5'Flank NM_024885 NP_079161 Q5H9L4 TAF7L_HUMAN TATA box binding protein-associated factor, RNA 60 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter cytoplasm|transcription factor TFIID complex binding breast(1) 1 GAGTGTCCTCGTCGGCAGGAA 0.562 NA 7 175 0 0 0 0 ODZ1 10178 broad.mit.edu 37 X 123870838 123870838 + Missense_Mutation SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chrX:123870838C>G uc004euj.2 - 4 809 c.745G>C c.(745-747)GTC>CTC p.V249L ODZ1_uc011muj.1_Missense_Mutation_p.V249L|ODZ1_uc010nqy.2_Missense_Mutation_p.V249L NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 249 Teneurin N-terminal.|Cytoplasmic (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 CTGTTCAGGACCCAGCTGTTA 0.502 NA 168 88 0 0 0 0 IGSF1 3547 broad.mit.edu 37 X 130409627 130409627 + Missense_Mutation SNP G G T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chrX:130409627G>T uc004ewd.2 - 16 3247 c.3009C>A c.(3007-3009)CAC>CAA p.H1003Q IGSF1_uc004ewe.3_Missense_Mutation_p.H997Q|IGSF1_uc004ewf.2_Missense_Mutation_p.H983Q NM_001555 NP_001546 Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 isoform 1 1003 Extracellular (Potential).|Ig-like C2-type 10. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding ovary(3)|lung(1)|central_nervous_system(1) 5 CTCCTTCTTTGTGCAGAATGT 0.527 NA 11 71 2.35e-11 2.69e-11 1 0 MAGEA11 4110 broad.mit.edu 37 X 148798058 148798058 + Silent SNP T T C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chrX:148798058T>C uc004fdq.2 + 5 1014 c.912T>C c.(910-912)TGT>TGC p.C304C HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Silent_p.C275C NM_005366 NP_005357 P43364 MAGAB_HUMAN melanoma antigen family A, 11 isoform a 304 MAGE. cytoplasm|nucleus protein binding ovary(2) 2 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) GCATACAGTGTAATGAGCAGA 0.502 NA 23 101 0 0 0 0 SPEN 23013 broad.mit.edu 37 1 16263993 16263994 + Frame_Shift_Ins INS - - C rs141820706 by1000genomes TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr1:16263993_16263994insC uc001axk.1 + 12 10566_10567 c.10362_10363insC c.(10360-10365)AAACAGfs p.K3454fs SPEN_uc010obp.1_Frame_Shift_Ins_p.K3413fs NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 3454_3455 Pro-rich. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) CTGCCCCAAAACAGCCGTTGTT 0.579 NA 7 86 --- --- --- --- NA NA NA NA CD58 965 broad.mit.edu 37 1 117087209 117087209 + Frame_Shift_Del DEL A A - TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr1:117087209delA uc001egm.2 - 2 209 c.88delT c.(88-90)TCCfs p.S30fs CD58_uc001egn.2_RNA|CD58_uc010owy.1_Frame_Shift_Del_p.S30fs|CD58_uc001ego.1_RNA|CD58_uc001egp.3_Frame_Shift_Del_p.S30fs NM_001779 NP_001770 P19256 LFA3_HUMAN CD58 molecule isoform 1 30 Extracellular (Potential). blood coagulation|cell-cell adhesion|leukocyte migration anchored to membrane|integral to plasma membrane protein binding 0 Lung SC(450;0.225) all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577) Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121) ATTTGTTGGGAAAAACAGCTG 0.343 NA 14 12 --- --- --- --- NA NA NA NA PDE4DIP 9659 broad.mit.edu 37 1 144994620 144994623 + Frame_Shift_Del DEL CATA CATA - rs149688356 byFrequency TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr1:144994620_144994623delCATA uc001elw.3 - 1 400_403 c.109_112delTATG c.(109-114)TATGAGfs p.Y37fs NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Frame_Shift_Del_p.Y37fs|PDE4DIP_uc001ell.1_Frame_Shift_Del_p.Y40fs|PDE4DIP_uc001elm.3_Frame_Shift_Del_p.Y5fs|PDE4DIP_uc001eln.3_Frame_Shift_Del_p.Y103fs|PDE4DIP_uc001elo.2_Frame_Shift_Del_p.Y174fs|PDE4DIP_uc001elx.3_Frame_Shift_Del_p.Y103fs|PDE4DIP_uc001emc.1_Frame_Shift_Del_p.Y37fs|PDE4DIP_uc001emd.1_Frame_Shift_Del_p.Y37fs|PDE4DIP_uc001emg.1_Frame_Shift_Del_p.Y37fs|PDE4DIP_uc001emh.2_Frame_Shift_Del_p.Y174fs NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 37_38 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CGGCTGGCCTCATACTTCTGTTGC 0.608 NA T PDGFRB MPD 9 156 --- --- --- --- NA NA NA NA NRL 4901 broad.mit.edu 37 14 24551828 24551829 + In_Frame_Ins INS - - GGT TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr14:24551828_24551829insGGT uc001wlo.2 - 2 360_361 c.229_230insACC c.(229-231)ACC>AACCCC p.77_77T>NP NRL_uc001wlp.2_In_Frame_Ins_p.77_77T>NP|NRL_uc001wlq.2_In_Frame_Ins_p.77_77T>NP NM_006177 NP_006168 P54845 NRL_HUMAN neural retina leucine zipper 77 response to stimulus|transcription from RNA polymerase II promoter|visual perception nucleus leucine zipper domain binding|sequence-specific DNA binding 0 GBM - Glioblastoma multiforme(265;0.0181) CTGCTGCAGGGTAGCCAGCCAG 0.658 NA 9 57 --- --- --- --- NA NA NA NA TP53 7157 broad.mit.edu 37 17 7579410 7579420 + Frame_Shift_Del DEL GGGGCCAGGAG GGGGCCAGGAG - TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr17:7579410_7579420delGGGGCCAGGAG uc002gim.2 - 4 461_471 c.267_277delCTCCTGGCCCC c.(265-279)CCCTCCTGGCCCCTGfs p.P89fs TP53_uc002gig.1_Frame_Shift_Del_p.P89fs|TP53_uc002gih.2_Frame_Shift_Del_p.P89fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Del_p.P89fs|TP53_uc010cni.1_Frame_Shift_Del_p.P89fs|TP53_uc002gij.2_Frame_Shift_Del_p.P89fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Del_p.P50fs|TP53_uc010cnk.1_Frame_Shift_Del_p.P104fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 89_93 Interaction with WWOX. L -> P (in a sporadic cancer; somatic mutation).|L -> M (in a sporadic cancer; 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.W91*(11)|p.0?(7)|p.A76_S90del15(3)|p.G59fs*23(3)|p.P89S(3)|p.L93fs*30(2)|p.P85fs*58(1)|p.W91fs*57(1)|p.W91fs*13(1)|p.A88fs*52(1)|p.V73fs*9(1)|p.D48fs*55(1)|p.L93M(1)|p.P87fs*54(1)|p.P89L(1)|p.P92fs*57(1)|p.S33fs*23(1)|p.A86fs*33(1)|p.A86fs*32(1)|p.P13fs*18(1)|p.P89fs*60(1)|p.S90F(1)|p.P92A(1)|p.P92L(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) GAAGATGACAGGGGCCAGGAGGGGGCTGGTG 0.626 111 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) 23 52 --- --- --- --- NA NA NA NA ZNF155 7711 broad.mit.edu 37 19 44501449 44501450 + Frame_Shift_Ins INS - - A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr19:44501449_44501450insA uc002oxy.1 + 5 1645_1646 c.1440_1441insA c.(1438-1443)CAGAAAfs p.Q480fs ZNF155_uc002oxz.1_Frame_Shift_Ins_p.Q480fs|ZNF155_uc010xwt.1_Frame_Shift_Ins_p.Q491fs|uc010ejc.1_RNA NM_003445 NP_003436 Q12901 ZN155_HUMAN zinc finger protein 155 480_481 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(1)|ovary(1) 2 Prostate(69;0.0352) TCCACTGCCAGAAAAAACCATT 0.455 NA 23 86 --- --- --- --- NA NA NA NA FHL2 2274 broad.mit.edu 37 2 105977793 105977794 + Frame_Shift_Ins INS - - G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr2:105977793_105977794insG uc002tcu.2 - 6 1123_1124 c.786_787insC c.(784-789)GGCTTCfs p.G262fs FHL2_uc002tdc.2_Frame_Shift_Ins_p.G148fs|FHL2_uc002tdd.2_Frame_Shift_Ins_p.G262fs|FHL2_uc002tct.2_Frame_Shift_Ins_p.G148fs|FHL2_uc002tcv.2_Frame_Shift_Ins_p.G262fs|FHL2_uc002tcw.2_Frame_Shift_Ins_p.G262fs|FHL2_uc002tcx.2_Frame_Shift_Ins_p.G262fs|FHL2_uc010fje.2_Frame_Shift_Ins_p.G175fs|FHL2_uc002tcy.2_Frame_Shift_Ins_p.G262fs|FHL2_uc002tcz.2_Frame_Shift_Ins_p.G372fs|FHL2_uc002tda.2_RNA|FHL2_uc002tdb.2_Frame_Shift_Ins_p.G378fs NM_201557 NP_963851 Q14192 FHL2_HUMAN four and a half LIM domains 2 262_263 LIM zinc-binding 4. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent actin cytoskeleton|focal adhesion|nucleus androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding ovary(1) 1 TCTGTGAGGAAGCCACGCCCCA 0.5 NA 30 64 --- --- --- --- NA NA NA NA WHSC1 7468 broad.mit.edu 37 4 1957868 1957869 + Frame_Shift_Ins INS - - C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr4:1957868_1957869insC uc003gdz.3 + 15 3010_3011 c.2834_2835insC c.(2833-2835)GGCfs p.G945fs WHSC1_uc003geb.3_Frame_Shift_Ins_p.G945fs|WHSC1_uc003gec.3_Frame_Shift_Ins_p.G945fs|WHSC1_uc003ged.3_Frame_Shift_Ins_p.G945fs|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Frame_Shift_Ins_p.G164fs|WHSC1_uc011bvh.1_Frame_Shift_Ins_p.G6fs|WHSC1_uc010icf.2_Frame_Shift_Ins_p.G293fs NM_001042424 NP_001035889 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 protein 945 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) GGGGACCGGGGCAGCCGCTACC 0.51 NA T IGH@ MM 30 214 --- --- --- --- NA NA NA NA FBXO30 84085 broad.mit.edu 37 6 146126707 146126708 + Frame_Shift_Ins INS - - A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr6:146126707_146126708insA uc003qla.2 - 2 1033_1034 c.834_835insT c.(832-837)TATGACfs p.Y278fs uc003qky.1_Intron NM_032145 NP_115521 Q8TB52 FBX30_HUMAN F-box only protein 30 278_279 ubiquitin-protein ligase activity|zinc ion binding ovary(2)|large_intestine(1) 3 Ovarian(120;0.0776) OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149) GCAGAAGTGTCATAAGAACTTG 0.356 NA 40 111 --- --- --- --- NA NA NA NA ERLIN2 11160 broad.mit.edu 37 8 37595472 37595473 + Frame_Shift_Ins INS - - T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr8:37595472_37595473insT uc003xke.3 + 2 147_148 c.32_33insT c.(31-33)GCTfs p.A11fs uc003xkb.1_5'Flank|ERLIN2_uc003xkc.3_Frame_Shift_Ins_p.A11fs|ERLIN2_uc003xkd.2_Frame_Shift_Ins_p.A11fs|ERLIN2_uc003xkf.3_Frame_Shift_Ins_p.A11fs|ERLIN2_uc003xkg.2_Frame_Shift_Ins_p.A11fs NM_007175 NP_009106 O94905 ERLN2_HUMAN ER lipid raft associated 2 isoform 1 11 Helical; (Potential). ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane protein binding 0 Lung NSC(58;0.174) BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) GTGGCTGTGGCTTCCAGTTTCT 0.5 NA 10 171 --- --- --- --- NA NA NA NA VPS13B 157680 broad.mit.edu 37 8 100479733 100479733 + Frame_Shift_Del DEL G G - TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr8:100479733delG uc003yiv.2 + 24 3648 c.3537delG c.(3535-3537)ATGfs p.M1179fs VPS13B_uc003yiw.2_Frame_Shift_Del_p.M1179fs|VPS13B_uc003yiu.1_Frame_Shift_Del_p.M1179fs|VPS13B_uc003yix.1_Frame_Shift_Del_p.M649fs NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 1179 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TGGAACCTATGGGTTGCACCT 0.443 NA 85 348 --- --- --- --- NA NA NA NA EPB41L4B 54566 broad.mit.edu 37 9 111945031 111945031 + Frame_Shift_Del DEL A A - TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr9:111945031delA uc004bdz.1 - 24 2760 c.2465delT c.(2464-2466)TTCfs p.F822fs NM_019114 NP_061987 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 822 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton ovary(1)|central_nervous_system(1)|skin(1) 3 CCCTGTGGTGAAAGTATCAGG 0.418 NA 63 50 --- --- --- --- NA NA NA NA RBM10 8241 broad.mit.edu 37 X 47030561 47030563 + In_Frame_Del DEL GGA GGA - TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chrX:47030561_47030563delGGA uc004dhf.2 + 4 715_717 c.336_338delGGA c.(334-339)GGGGAG>GGG p.E119del RBM10_uc004dhe.1_In_Frame_Del_p.E109del|RBM10_uc004dhg.2_Intron|RBM10_uc004dhh.2_In_Frame_Del_p.E119del|RBM10_uc010nhq.2_Intron|RBM10_uc004dhi.2_In_Frame_Del_p.E184del NM_005676 NP_005667 P98175 RBM10_HUMAN RNA binding motif protein 10 isoform 1 119 Poly-Glu. mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1) 5 CCGAGCAAGGggaggaggaggag 0.522 NA 10 128 --- --- --- --- NA NA NA NA