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 PRAMEF1 65121 broad.mit.edu 37 1 12854334 12854334 + Silent SNP C C G TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr1:12854334C>G uc001auj.1 + 3 661 c.558C>G c.(556-558)GTC>GTG p.V186V NM_023013 NP_075389 O95521 PRAM1_HUMAN PRAME family member 1 186 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GTAAGCTGGTCAATTATCTAA 0.423 NA 10 635 0 0 0 0 TFAP2E 339488 broad.mit.edu 37 1 36054125 36054125 + Missense_Mutation SNP G G A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr1:36054125G>A uc010ohy.1 + 4 965 c.757G>A c.(757-759)GCC>ACC p.A253T PSMB2_uc001bzd.1_Intron NM_178548 NP_848643 Q6VUC0 AP2E_HUMAN transcription factor AP-2 epsilon (activating 253 nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) GTGCCTCAACGCCTCCCTCCT 0.647 NA 24 65 0 0 0 0 ST6GALNAC3 256435 broad.mit.edu 37 1 76878016 76878016 + Missense_Mutation SNP C C G TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr1:76878016C>G uc001dhh.2 + 3 700 c.537C>G c.(535-537)ATC>ATG p.I179M ST6GALNAC3_uc001dhg.3_Missense_Mutation_p.I179M|ST6GALNAC3_uc010orh.1_Missense_Mutation_p.I114M NM_152996 NP_694541 Q8NDV1 SIA7C_HUMAN sialyltransferase 7C isoform 1 179 Lumenal (Potential). protein glycosylation integral to Golgi membrane sialyltransferase activity ovary(3)|skin(2) 5 CAGTTGGTATCTATCCGAATG 0.423 NA 8 61 0 0 0 0 PIGK 10026 broad.mit.edu 37 1 77558068 77558068 + Silent SNP G G A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr1:77558068G>A uc001dhk.2 - 11 1224 c.1179C>T c.(1177-1179)TTC>TTT p.F393F PIGK_uc010orj.1_Silent_p.F317F|PIGK_uc009wbx.2_Silent_p.F299F NM_005482 NP_005473 Q92643 GPI8_HUMAN phosphatidylinositol glycan anchor biosynthesis, 393 Cytoplasmic (Potential). Missing: Loss of activity. attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis GPI-anchor transamidase complex cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding ovary(2)|pancreas(1) 3 TCTAAAAAATGAACTTCATAT 0.328 NA 9 51 0 0 0 0 SPAG17 200162 broad.mit.edu 37 1 118640375 118640375 + Missense_Mutation SNP G G T TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr1:118640375G>T uc001ehk.2 - 7 997 c.929C>A c.(928-930)ACA>AAA p.T310K NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 310 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) AAAGAGATTTGTTTCAGGTTT 0.378 NA 326 47 2.44e-143 1.16e-142 1 0 NOTCH2 4853 broad.mit.edu 37 1 120458562 120458562 + Missense_Mutation SNP C C G TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr1:120458562C>G uc001eik.2 - 34 7039 c.6783G>C c.(6781-6783)GAG>GAC p.E2261D NM_024408 NP_077719 Q04721 NOTC2_HUMAN notch 2 preproprotein 2261 Cytoplasmic (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1) 27 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) TGTACTGGGTCTCATTCACCT 0.557 NA N|F|Mis marginal zone lymphoma|DLBCL Alagille_Syndrome 71 250 0 0 0 0 S100A10 6281 broad.mit.edu 37 1 151955750 151955750 + Missense_Mutation SNP C C A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr1:151955750C>A uc001ezl.2 - 3 691 c.183G>T c.(181-183)CAG>CAT p.Q61H NM_002966 NP_002957 P60903 S10AA_HUMAN S100 calcium binding protein A10 61 Ancestral calcium site. signal transduction calcium ion binding|receptor binding 0 Melanoma(130;0.0648)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) CATCTCTACACTGGTCCAGGT 0.423 NA 26 124 3.29e-13 1.53e-12 1 0 TCHH 7062 broad.mit.edu 37 1 152081918 152081918 + Missense_Mutation SNP G G A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr1:152081918G>A uc001ezp.2 - 2 3775 c.3775C>T c.(3775-3777)CGC>TGC p.R1259C TCHH_uc009wne.1_Missense_Mutation_p.R1259C NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 1259 keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTCTGTCGCGCAGCTGGGAA 0.537 NA 29 93 0 0 0 0 FCRL3 115352 broad.mit.edu 37 1 157666098 157666098 + Silent SNP C C T TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr1:157666098C>T uc001frb.2 - 7 1156 c.864G>A c.(862-864)GTG>GTA p.V288V FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Silent_p.V288V|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Silent_p.V14V|FCRL3_uc001frc.1_Silent_p.V288V NM_052939 NP_443171 Q96P31 FCRL3_HUMAN Fc receptor-like 3 precursor 288 Ig-like C2-type 4.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(3)|breast(1) 4 all_hematologic(112;0.0378) TCTCTAGATTCACATTAGACA 0.522 NA 14 97 0 0 0 0 PIGM 93183 broad.mit.edu 37 1 160001164 160001164 + Silent SNP G G A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr1:160001164G>A uc001fuv.1 - 1 620 c.366C>T c.(364-366)CGC>CGT p.R122R NM_145167 NP_660150 Q9H3S5 PIGM_HUMAN phosphatidylinositol glycan anchor biosynthesis, 122 Cytoplasmic (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane ovary(2)|skin(1) 3 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CACAAGCCTGGCGGCGCCCCA 0.577 NA 12 64 0 0 0 0 DDR2 4921 broad.mit.edu 37 1 162737067 162737067 + Missense_Mutation SNP G G C TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr1:162737067G>C uc001gcf.2 + 12 1676 c.1211G>C c.(1210-1212)TGC>TCC p.C404S DDR2_uc001gcg.2_Missense_Mutation_p.C404S NM_001014796 NP_001014796 Q16832 DDR2_HUMAN discoidin domain receptor family, member 2 404 Helical; (Potential). cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(2)|central_nervous_system(2)|ovary(1)|kidney(1) 6 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) CTGATTGGCTGCTTGGTGGCC 0.483 NA 30 165 0 0 0 0 DUSP27 92235 broad.mit.edu 37 1 167088617 167088617 + Missense_Mutation SNP A A G TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr1:167088617A>G uc001geb.1 + 4 569 c.569A>G c.(568-570)GAG>GGG p.E190G NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 190 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 CTGGGTGTAGAGGTGGATGAC 0.557 NA 15 47 0 0 0 0 DCAF6 55827 broad.mit.edu 37 1 167971802 167971802 + Missense_Mutation SNP G G A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr1:167971802G>A uc001gew.2 + 8 1228 c.986G>A c.(985-987)CGA>CAA p.R329Q DCAF6_uc001gev.2_Missense_Mutation_p.R329Q|DCAF6_uc001gex.2_Missense_Mutation_p.R329Q|DCAF6_uc010plk.1_Missense_Mutation_p.R298Q|DCAF6_uc001gey.2_Missense_Mutation_p.R182Q NM_001017977 NP_001017977 Q58WW2 DCAF6_HUMAN IQ motif and WD repeats 1 isoform b 329 positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity ovary(1)|central_nervous_system(1)|skin(1) 3 GAGAGTGAACGAGAACGAGAT 0.338 NA 12 84 0 0 0 0 TIPRL 261726 broad.mit.edu 37 1 168153231 168153231 + Missense_Mutation SNP G G A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr1:168153231G>A uc001gfg.2 + 2 341 c.196G>A c.(196-198)GAG>AAG p.E66K TIPRL_uc001gfh.2_Missense_Mutation_p.E66K|TIPRL_uc001gff.2_Missense_Mutation_p.E66K NM_152902 NP_690866 O75663 TIPRL_HUMAN TIP41, TOR signalling pathway regulator-like 66 DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity cytoplasm protein binding ovary(1) 1 all_hematologic(923;0.215) CTTTGGAATTGAGTTCAATGC 0.428 NA 17 72 0 0 0 0 ASTN1 460 broad.mit.edu 37 1 177000057 177000057 + Missense_Mutation SNP G G T TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr1:177000057G>T uc001glc.2 - 4 1109 c.897C>A c.(895-897)AAC>AAA p.N299K ASTN1_uc001glb.1_Missense_Mutation_p.N299K|ASTN1_uc001gld.1_Missense_Mutation_p.N299K|ASTN1_uc009wwx.1_Missense_Mutation_p.N299K|ASTN1_uc001gle.3_RNA|MIR488_hsa-mir-488|MI0003123_5'Flank NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 299 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 CTTTATACTTGTTCATCAGTG 0.443 NA 9 67 7.48e-07 3.38e-06 1 0 CFHR4 10877 broad.mit.edu 37 1 196882040 196882040 + Missense_Mutation SNP C C A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr1:196882040C>A uc001gto.2 + 3 496 c.427C>A c.(427-429)CCA>ACA p.P143T CFHR4_uc009wyy.2_Missense_Mutation_p.P389T|CFHR4_uc001gtp.2_Missense_Mutation_p.P390T NM_006684 NP_006675 Q92496 FHR4_HUMAN complement factor H-related 4 precursor 143 Sushi 2. extracellular region lipid transporter activity ovary(1)|pancreas(1)|skin(1) 3 GTCAGCACAACCAATTTGCAT 0.303 NA 42 75 5.86e-14 2.74e-13 1 0 KIF21B 23046 broad.mit.edu 37 1 200944711 200944711 + Silent SNP G G A rs150393728 TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr1:200944711G>A uc001gvs.1 - 33 4847 c.4530C>T c.(4528-4530)CTC>CTT p.L1510L KIF21B_uc001gvr.1_Silent_p.L1497L|KIF21B_uc009wzl.1_Silent_p.L1510L|KIF21B_uc010ppn.1_Silent_p.L1497L NM_017596 NP_060066 O75037 KI21B_HUMAN kinesin family member 21B 1510 WD 5. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3)|skin(3) 6 CCTGGATGGCGAGACACTCGA 0.607 NA 9 77 0 0 0 0 TRAF3IP3 80342 broad.mit.edu 37 1 209949072 209949072 + Silent SNP C C A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr1:209949072C>A uc001hho.2 + 11 1334 c.1044C>A c.(1042-1044)TCC>TCA p.S348S TRAF3IP3_uc001hhl.2_Silent_p.S328S|TRAF3IP3_uc001hhm.1_Silent_p.S348S|TRAF3IP3_uc001hhn.2_Silent_p.S328S|TRAF3IP3_uc009xcr.2_Silent_p.S348S NM_025228 NP_079504 Q9Y228 T3JAM_HUMAN TRAF3-interacting JNK-activating modulator 348 Cytoplasmic (Potential).|Potential. integral to membrane protein binding large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.045) TGCTTCAGTCCAAACTGCAGG 0.582 NA 8 40 0.000157383 0.000681197 1 0 TMEM206 55248 broad.mit.edu 37 1 212553337 212553337 + Missense_Mutation SNP G G A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr1:212553337G>A uc001hjc.3 - 5 706 c.538C>T c.(538-540)CGG>TGG p.R180W TMEM206_uc010pte.1_Missense_Mutation_p.R241W NM_018252 NP_060722 Q9H813 TM206_HUMAN transmembrane protein 206 180 Extracellular (Potential). integral to membrane breast(1) 1 all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148) ACCAGCTCCCGCTTTTTCACT 0.537 NA 34 72 0 0 0 0 ESRRG 2104 broad.mit.edu 37 1 216737606 216737606 + Missense_Mutation SNP C C A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr1:216737606C>A uc001hkw.1 - 5 983 c.817G>T c.(817-819)GAC>TAC p.D273Y ESRRG_uc001hky.1_Missense_Mutation_p.D250Y|ESRRG_uc009xdp.1_Missense_Mutation_p.D250Y|ESRRG_uc001hkz.1_Missense_Mutation_p.D211Y|ESRRG_uc010puc.1_Missense_Mutation_p.D250Y|ESRRG_uc001hla.1_Missense_Mutation_p.D250Y|ESRRG_uc001hlb.1_Missense_Mutation_p.D250Y|ESRRG_uc010pud.1_Missense_Mutation_p.D81Y|ESRRG_uc001hlc.1_Missense_Mutation_p.D250Y|ESRRG_uc001hld.1_Missense_Mutation_p.D250Y|ESRRG_uc001hkx.1_Missense_Mutation_p.D285Y|ESRRG_uc009xdo.1_Missense_Mutation_p.D250Y|ESRRG_uc001hle.1_Missense_Mutation_p.D250Y NM_001438 NP_001429 P62508 ERR3_HUMAN estrogen-related receptor gamma isoform 1 273 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|kidney(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) AACTCTCGGTCGGCCAAGTCA 0.458 NA 17 85 5.39e-06 2.4e-05 1 0 ADARB2 105 broad.mit.edu 37 10 1405267 1405267 + Missense_Mutation SNP G G A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr10:1405267G>A uc009xhq.2 - 3 1407 c.1033C>T c.(1033-1035)CCC>TCC p.P345S NM_018702 NP_061172 Q9NS39 RED2_HUMAN adenosine deaminase, RNA-specific, B2 345 mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding large_intestine(2)|central_nervous_system(1) 3 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) GCGTGGCCGGGCATCTGGATG 0.761 NA 5 12 0 0 0 0 TTC18 118491 broad.mit.edu 37 10 75104930 75104930 + Missense_Mutation SNP G G T TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr10:75104930G>T uc009xrc.2 - 6 623 c.502C>A c.(502-504)CTA>ATA p.L168I TTC18_uc001jty.2_Missense_Mutation_p.L168I|TTC18_uc009xrd.1_5'UTR NM_145170 NP_660153 Q5T0N1 TTC18_HUMAN tetratricopeptide repeat domain 18 168 binding ovary(2)|central_nervous_system(1) 3 Prostate(51;0.0119) ACCTTCAGTAGATTGCCCCCT 0.468 NA 32 123 5.92e-21 2.79e-20 1 0 MYOZ1 58529 broad.mit.edu 37 10 75397509 75397509 + Missense_Mutation SNP C C T TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr10:75397509C>T uc001jur.2 - 3 610 c.245G>A c.(244-246)AGC>AAC p.S82N NM_021245 NP_067068 Q9NP98 MYOZ1_HUMAN myozenin 1 82 myofibril assembly nucleus|pseudopodium FATZ binding ovary(2) 2 Prostate(51;0.0112) CACCATTGAGCTGTCAGAGAA 0.483 NA 25 108 0 0 0 0 CNNM1 26507 broad.mit.edu 37 10 101120712 101120712 + Missense_Mutation SNP C C T TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr10:101120712C>T uc001kpp.3 + 3 2127 c.1838C>T c.(1837-1839)ACA>ATA p.T613I CNNM1_uc009xwe.2_Missense_Mutation_p.T613I|CNNM1_uc010qpi.1_Missense_Mutation_p.T613I|CNNM1_uc009xwf.2_Missense_Mutation_p.T613I|CNNM1_uc009xwg.2_Missense_Mutation_p.T13I NM_020348 NP_065081 Q9NRU3 CNNM1_HUMAN cyclin M1 613 ion transport integral to membrane|plasma membrane 0 Colorectal(252;0.234) Epithelial(162;6.82e-10)|all cancers(201;5.62e-08) CTGCTAGCCACACACCGCTTC 0.383 NA 16 57 0 0 0 0 GBF1 8729 broad.mit.edu 37 10 104122290 104122290 + Missense_Mutation SNP T T C TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr10:104122290T>C uc001kux.1 + 15 1982 c.1742T>C c.(1741-1743)CTA>CCA p.L581P GBF1_uc001kuy.1_Missense_Mutation_p.L581P|GBF1_uc001kuz.1_Missense_Mutation_p.L582P NM_004193 NP_004184 Q92538 GBF1_HUMAN golgi-specific brefeldin A resistant guanine 581 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) CTTGATGCCCTATTGACAGTG 0.488 NA 3 148 0 0 0 0 OR52E2 119678 broad.mit.edu 37 11 5080740 5080740 + Missense_Mutation SNP C C T TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr11:5080740C>T uc010qyw.1 - 1 118 c.118G>A c.(118-120)GCA>ACA p.A40T NM_001005164 NP_001005164 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, 40 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) CCTATGAGTGCGATCATGTAC 0.512 NA 13 52 0 0 0 0 RBMXL2 27288 broad.mit.edu 37 11 7111302 7111302 + Silent SNP T T C TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr11:7111302T>C uc001mfc.2 + 1 1138 c.951T>C c.(949-951)GAT>GAC p.D317D NM_014469 NP_055284 O75526 HNRGT_HUMAN testes-specific heterogenous nuclear 317 Arg/Gly/Pro-rich. nucleus|ribonucleoprotein complex nucleotide binding|RNA binding 0 Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) ACTCACCCGATGCCTACAGCG 0.687 NA 7 27 0 0 0 0 MRGPRX3 117195 broad.mit.edu 37 11 18159705 18159705 + Missense_Mutation SNP G G C TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr11:18159705G>C uc001mnu.2 + 3 1317 c.956G>C c.(955-957)AGA>ACA p.R319T NM_054031 NP_473372 Q96LB0 MRGX3_HUMAN MAS-related GPR, member X3 319 Cytoplasmic (Potential). R -> K (in Ref. 2; AAL86878). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1)|pancreas(1) 2 TCGGGAAGCAGATTGGAGCAG 0.542 NA 4 56 0 0 0 0 SLC1A2 6506 broad.mit.edu 37 11 35308409 35308409 + Missense_Mutation SNP G G A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr11:35308409G>A uc001mwd.2 - 8 1773 c.1181C>T c.(1180-1182)GCA>GTA p.A394V SLC1A2_uc001mwe.2_Missense_Mutation_p.A385V|SLC1A2_uc010rev.1_Missense_Mutation_p.A394V NM_004171 NP_004162 P43004 EAA2_HUMAN excitatory amino acid transporter 2 394 D-aspartate import|L-glutamate import|synaptic transmission integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity ovary(2)|central_nervous_system(1) 3 all_lung(20;0.211)|all_epithelial(35;0.234) all_hematologic(20;0.109) STAD - Stomach adenocarcinoma(6;0.00731) L-Glutamic Acid(DB00142) GTTAATGGTTGCTCCAACAGG 0.468 NA 24 190 0 0 0 0 OR8J1 219477 broad.mit.edu 37 11 56128260 56128260 + Missense_Mutation SNP G G C TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr11:56128260G>C uc010rjh.1 + 1 538 c.538G>C c.(538-540)GAT>CAT p.D180H NM_001005205 NP_001005205 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, 180 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) TTTTTACTGTGATAATGTTCC 0.343 NA 21 62 0 0 0 0 OR5AR1 219493 broad.mit.edu 37 11 56431506 56431506 + Silent SNP G G C TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr11:56431506G>C uc010rjm.1 + 1 345 c.345G>C c.(343-345)CTG>CTC p.L115L NM_001004730 NP_001004730 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, 115 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GCTATGTCCTGGCAGCCATGG 0.498 NA 31 213 0 0 0 0 KCNA6 3742 broad.mit.edu 37 12 4919817 4919817 + Nonsense_Mutation SNP C C T TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr12:4919817C>T uc001qng.2 + 1 1476 c.610C>T c.(610-612)CGA>TGA p.R204* NM_002235 NP_002226 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related 204 voltage-gated potassium channel complex voltage-gated potassium channel activity skin(2)|ovary(1) 3 TGTAGATGGTCGAGGTGGAAA 0.542 NA HNSCC(72;0.22) 11 60 0 0 0 0 KCNA1 3736 broad.mit.edu 37 12 5020755 5020755 + Missense_Mutation SNP C C T TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr12:5020755C>T uc001qnh.2 + 2 1316 c.211C>T c.(211-213)CGC>TGC p.R71C NM_000217 NP_000208 Q09470 KCNA1_HUMAN potassium voltage-gated channel subfamily A 71 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity ovary(1)|skin(1) 2 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GAAACGCATGCGCTACTTCGA 0.632 NA 27 105 0 0 0 0 USP5 8078 broad.mit.edu 37 12 6970649 6970649 + Missense_Mutation SNP A A G TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr12:6970649A>G uc001qri.3 + 13 1600 c.1541A>G c.(1540-1542)GAG>GGG p.E514G USP5_uc001qrh.3_Missense_Mutation_p.E514G NM_001098536 NP_001092006 P45974 UBP5_HUMAN ubiquitin specific peptidase 5 isoform 1 514 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process lysosome cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding lung(2)|breast(1)|skin(1) 4 CAAGCCGAAGAGGAGAAGATG 0.597 NA 20 94 0 0 0 0 OR8S1 341568 broad.mit.edu 37 12 48921776 48921776 + Missense_Mutation SNP G G A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr12:48921776G>A uc010slu.1 + 2 970 c.970G>A c.(970-972)GAA>AAA p.E324K NM_001005203 NP_001005203 Q8NH09 OR8S1_HUMAN olfactory receptor, family 8, subfamily S, 324 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 AGCCTTCACCGAAGGCCGCAG 0.647 NA 18 27 0 0 0 0 USP15 9958 broad.mit.edu 37 12 62749159 62749159 + Missense_Mutation SNP A A G TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr12:62749159A>G uc001src.1 + 8 827 c.818A>G c.(817-819)AAC>AGC p.N273S USP15_uc001srb.1_Missense_Mutation_p.N244S NM_006313 NP_006304 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 273 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2)|lung(1) 3 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) GCTTATAAGAACTATGATTAT 0.348 NA 7 31 0 0 0 0 EPYC 1833 broad.mit.edu 37 12 91366624 91366624 + Missense_Mutation SNP G G C TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr12:91366624G>C uc001tbk.2 - 4 567 c.474C>G c.(472-474)ATC>ATG p.I158M NM_004950 NP_004941 Q99645 EPYC_HUMAN dermatan sulfate proteoglycan 3 precursor 158 LRR 1. female pregnancy proteinaceous extracellular matrix glycosaminoglycan binding skin(1) 1 CATTTTTGTTGATCTTTTTAA 0.388 NA 6 110 0 0 0 0 TRPV4 59341 broad.mit.edu 37 12 110246181 110246181 + Missense_Mutation SNP C C T rs139300843 TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr12:110246181C>T uc001tpj.1 - 2 574 c.479G>A c.(478-480)CGG>CAG p.R160Q TRPV4_uc001tpg.1_Missense_Mutation_p.R126Q|TRPV4_uc001tph.1_Missense_Mutation_p.R160Q|TRPV4_uc001tpi.1_Missense_Mutation_p.R160Q|TRPV4_uc001tpk.1_Missense_Mutation_p.R160Q|TRPV4_uc001tpl.1_Missense_Mutation_p.R160Q NM_021625 NP_067638 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, 160 Cytoplasmic (Potential). actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 AGTGGAGCCCCGGGACACGAT 0.612 NA 13 36 0 0 0 0 RPH3A 22895 broad.mit.edu 37 12 113307581 113307581 + Missense_Mutation SNP A A G TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr12:113307581A>G uc010syl.1 + 9 990 c.628A>G c.(628-630)AGG>GGG p.R210G RPH3A_uc001ttz.2_Missense_Mutation_p.R210G|RPH3A_uc001tty.2_Missense_Mutation_p.R206G|RPH3A_uc009zwe.1_Missense_Mutation_p.R206G|RPH3A_uc010sym.1_Missense_Mutation_p.R161G|RPH3A_uc001tua.2_5'UTR NM_001143854 NP_001137326 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog isoform 1 210 Pro-rich. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding ovary(3)|central_nervous_system(2)|skin(2) 7 BRCA - Breast invasive adenocarcinoma(302;0.00453) TGAAGATAGGAGGGGCCCGGG 0.463 NA 3 139 0 0 0 0 PCNX 22990 broad.mit.edu 37 14 71444809 71444809 + Silent SNP T T A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr14:71444809T>A uc001xmo.2 + 6 2201 c.1755T>A c.(1753-1755)GGT>GGA p.G585G PCNX_uc001xmn.3_Silent_p.G585G|PCNX_uc010are.1_Silent_p.G585G NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 585 integral to membrane ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) GCTTTCGAGGTGTTTCTGGTA 0.483 NA 15 99 0 0 0 0 DCAF4 26094 broad.mit.edu 37 14 73422322 73422322 + Missense_Mutation SNP G G A rs141315052 byFrequency TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr14:73422322G>A uc001xng.2 + 12 1317 c.1097G>A c.(1096-1098)CGC>CAC p.R366H DCAF4_uc001xnj.2_Missense_Mutation_p.R360H|DCAF4_uc010ttr.1_Missense_Mutation_p.R345H|DCAF4_uc001xnh.2_Missense_Mutation_p.R266H|DCAF4_uc010tts.1_Missense_Mutation_p.R306H|DCAF4_uc010ttt.1_Missense_Mutation_p.R152H|DCAF4_uc001xni.2_Missense_Mutation_p.R196H|DCAF4_uc001xnk.2_Missense_Mutation_p.R366H NM_015604 NP_056419 Q8WV16 DCAF4_HUMAN DDB1 and CUL4 associated factor 4 isoform 1 366 CUL4 RING ubiquitin ligase complex ovary(1)|central_nervous_system(1)|skin(1) 3 AAGGCCACCCGCCTGTTTCAT 0.517 NA 42 238 0 0 0 0 TMEM63C 57156 broad.mit.edu 37 14 77722968 77722968 + Missense_Mutation SNP G G C TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr14:77722968G>C uc001xtf.2 + 24 2532 c.2320G>C c.(2320-2322)GAG>CAG p.E774Q TMEM63C_uc010asq.1_Missense_Mutation_p.E774Q NM_020431 NP_065164 Q9P1W3 TM63C_HUMAN transmembrane protein 63C 774 integral to membrane 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0342) CCAGCCGGAAGAGGGAGAAGA 0.607 NA 60 131 0 0 0 0 BTBD7 55727 broad.mit.edu 37 14 93723663 93723663 + Missense_Mutation SNP T T G TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr14:93723663T>G uc001ybo.2 - 6 1812 c.1486A>C c.(1486-1488)AAA>CAA p.K496Q BTBD7_uc010aur.2_Missense_Mutation_p.K21Q|BTBD7_uc010two.1_Missense_Mutation_p.K316Q|BTBD7_uc001ybp.2_Missense_Mutation_p.K145Q|BTBD7_uc001ybq.3_Missense_Mutation_p.K411Q NM_001002860 NP_001002860 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 isoform 1 496 pancreas(1) 1 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) ACACCTCTTTTGTTCACACTA 0.408 NA 8 83 0 0 0 0 DICER1 23405 broad.mit.edu 37 14 95571506 95571506 + Silent SNP T T A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr14:95571506T>A uc001ydw.2 - 21 3353 c.3171A>T c.(3169-3171)ATA>ATT p.I1057I DICER1_uc010avh.1_5'UTR|DICER1_uc001ydv.2_Silent_p.I1047I|DICER1_uc001ydx.2_Silent_p.I1057I|DICER1_uc001ydy.1_5'Flank NM_030621 NP_085124 Q9UPY3 DICER_HUMAN dicer1 1057 negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity skin(2)|ovary(1)|pancreas(1)|lung(1) 5 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) GGCGATAAAGTATGCTGGGGA 0.488 NA Mis F|N pleuropulmonary blastoma DICER_1_syndrome_|Familial_Multinodular_Goiter_ 28 169 0 0 0 0 MYEF2 50804 broad.mit.edu 37 15 48446066 48446066 + Missense_Mutation SNP C C A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr15:48446066C>A uc001zwi.3 - 10 1134 c.1010G>T c.(1009-1011)GGA>GTA p.G337V MYEF2_uc001zwh.3_5'Flank|MYEF2_uc001zwj.3_Missense_Mutation_p.G337V|MYEF2_uc001zwl.2_Missense_Mutation_p.G177V NM_016132 NP_057216 Q9P2K5 MYEF2_HUMAN myelin expression factor 2 337 Gly-rich. transcription, DNA-dependent Golgi apparatus|nucleus DNA binding|nucleotide binding|RNA binding lung(2)|ovary(1) 3 all_lung(180;0.00217) all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07) CGGACCAAGTCCCATCCCAAT 0.388 NA 8 23 0.000274275 0.00117641 1 0 LAT 27040 broad.mit.edu 37 16 28997738 28997738 + Missense_Mutation SNP C C T TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr16:28997738C>T uc002dsd.2 + 5 633 c.281C>T c.(280-282)ACG>ATG p.T94M uc010vct.1_Intron|LAT_uc010vdj.1_Missense_Mutation_p.T130M|LAT_uc002dsb.2_Missense_Mutation_p.T94M|LAT_uc002dsc.2_Missense_Mutation_p.T93M|LAT_uc010vdk.1_Missense_Mutation_p.T94M|LAT_uc010vdl.1_Missense_Mutation_p.T93M NM_014387 NP_055202 O43561 LAT_HUMAN linker for activation of T cells isoform a 94 Cytoplasmic (Potential). calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway immunological synapse|integral to membrane|intracellular|membrane raft SH3/SH2 adaptor activity 0 Hepatocellular(780;0.244) TCCCACCGGACGCCATCTTCC 0.627 NA 22 89 0 0 0 0 CDH1 999 broad.mit.edu 37 16 68853324 68853324 + Missense_Mutation SNP C C A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr16:68853324C>A uc002ewg.1 + 11 1831 c.1707C>A c.(1705-1707)GAC>GAA p.D569E CDH1_uc010vlj.1_Intron|CDH1_uc010cfg.1_Missense_Mutation_p.D508E NM_004360 NP_004351 P12830 CADH1_HUMAN cadherin 1, type 1 preproprotein 569 Extracellular (Potential).|Cadherin 4. adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1) 243 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) TAGCTACAGACAATGGTAAGG 0.522 NA Mis|N|F|S lobular breast|gastric gastric Hereditary_Diffuse_Gastric_Cancer 11 32 5.51e-06 2.44e-05 1 0 ADAD2 161931 broad.mit.edu 37 16 84229512 84229512 + Missense_Mutation SNP G G C rs142081193 byFrequency TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr16:84229512G>C uc002fhr.2 + 7 1258 c.1144G>C c.(1144-1146)GTG>CTG p.V382L ADAD2_uc002fhq.2_Missense_Mutation_p.V464L|uc002fhs.1_Intron NM_001145400 NP_001138872 Q8NCV1 ADAD2_HUMAN adenosine deaminase domain containing 2 isoform 382 A to I editase. RNA processing intracellular adenosine deaminase activity|double-stranded RNA binding 0 TGTGTGCTACGTGGCGCCCTC 0.716 NA 5 32 0 0 0 0 GAS8 2622 broad.mit.edu 37 16 90103725 90103725 + Missense_Mutation SNP A A C TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr16:90103725A>C uc002fqi.1 + 7 964 c.842A>C c.(841-843)GAC>GCC p.D281A GAS8_uc010vps.1_Missense_Mutation_p.D256A|GAS8_uc002fqh.2_Missense_Mutation_p.D198A|GAS8_uc010vpt.1_3'UTR|GAS8_uc010vpu.1_3'UTR|GAS8_uc010vpv.1_Missense_Mutation_p.D252A|GAS8_uc010cjc.1_Missense_Mutation_p.D198A|GAS8_uc010vpw.1_Missense_Mutation_p.D198A|GAS8_uc002fqj.1_Missense_Mutation_p.D89A NM_001481 NP_001472 O95995 GAS8_HUMAN growth arrest-specific 8 281 Potential. negative regulation of cell proliferation|sperm motility cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum protein binding ovary(1) 1 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.029) CGCCTGGCAGACCCTCTCCAG 0.582 NA 14 31 0 0 0 0 PIK3R5 23533 broad.mit.edu 37 17 8793324 8793324 + Silent SNP C C T TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr17:8793324C>T uc002glt.2 - 8 844 c.777G>A c.(775-777)GCG>GCA p.A259A PIK3R5_uc010vuz.1_Silent_p.A259A|PIK3R5_uc002glu.3_5'UTR|PIK3R5_uc010coa.1_Intron|PIK3R5_uc010cob.1_5'UTR NM_014308 NP_055123 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 259 AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122). platelet activation cytosol|membrane|nucleus breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 TTTCTCCCACCGCCTGCAGCT 0.577 NA 20 46 0 0 0 0 MYO9B 4650 broad.mit.edu 37 19 17322582 17322582 + Missense_Mutation SNP A A T TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr19:17322582A>T uc010eak.2 + 39 6209 c.6057A>T c.(6055-6057)GAA>GAT p.E2019D MYO9B_uc002nfi.2_Missense_Mutation_p.E2019D|MYO9B_uc002nfm.1_Missense_Mutation_p.E179D NM_004145 NP_004136 Q13459 MYO9B_HUMAN myosin IXB isoform 1 2019 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(1) 1 GGGCCTCGGAAGGTCAGTATT 0.677 NA 11 50 0 0 0 0 ZNF675 171392 broad.mit.edu 37 19 23844924 23844924 + Missense_Mutation SNP T T G TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr19:23844924T>G uc002nri.2 - 3 400 c.218A>C c.(217-219)GAA>GCA p.E73A NM_138330 NP_612203 Q8TD23 ZN675_HUMAN zinc finger protein 675 73 KRAB. 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) ACCTGGGGGTTCATTCACCAT 0.418 NA 28 98 0 0 0 0 TMEM147 10430 broad.mit.edu 37 19 36037696 36037696 + Silent SNP G G A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr19:36037696G>A uc002oaj.1 + 4 427 c.330G>A c.(328-330)GAG>GAA p.E110E uc010eec.1_5'Flank|uc002oag.2_5'Flank|TMEM147_uc002oai.1_Silent_p.E61E|TMEM147_uc002oak.1_Missense_Mutation_p.S20N NM_032635 NP_116024 Q9BVK8 TM147_HUMAN transmembrane protein 147 110 Helical; (Potential). endoplasmic reticulum membrane|integral to membrane protein binding 0 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CCACTGCTGAGCTTATTATGT 0.602 NA 7 73 0 0 0 0 APLP1 333 broad.mit.edu 37 19 36365411 36365411 + Missense_Mutation SNP C C A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr19:36365411C>A uc002oce.2 + 9 1200 c.1062C>A c.(1060-1062)TTC>TTA p.F354L APLP1_uc010xsz.1_Missense_Mutation_p.F315L|APLP1_uc002ocf.2_Missense_Mutation_p.F354L|APLP1_uc002ocg.2_Missense_Mutation_p.F257L|APLP1_uc010xta.1_Missense_Mutation_p.F348L NM_005166 NP_005157 P51693 APLP1_HUMAN amyloid precursor-like protein 1 isoform 2 354 Extracellular (Potential). apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding ovary(2) 2 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCCAGCACTTCCAGTCCATTC 0.617 NA 52 129 3.51e-19 1.65e-18 1 0 LTBP4 8425 broad.mit.edu 37 19 41129882 41129882 + Missense_Mutation SNP G G A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr19:41129882G>A uc002ooh.1 + 30 3928 c.3928G>A c.(3928-3930)GGC>AGC p.G1310S LTBP4_uc002oog.1_Missense_Mutation_p.G1273S|LTBP4_uc002ooi.1_Missense_Mutation_p.G1243S|LTBP4_uc002ooj.1_Missense_Mutation_p.G183S|LTBP4_uc002ook.1_Missense_Mutation_p.G444S|LTBP4_uc002ool.1_Missense_Mutation_p.G322S|LTBP4_uc010xvp.1_Missense_Mutation_p.G70S NM_001042544 NP_001036009 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding 1310 EGF-like 14; calcium-binding (Potential). growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) CTGTGAGGGCGGCCGCTGTGT 0.602 NA 9 32 0 0 0 0 ZC3H4 23211 broad.mit.edu 37 19 47570690 47570690 + Silent SNP G G A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr19:47570690G>A uc002pga.3 - 15 2873 c.2835C>T c.(2833-2835)CCC>CCT p.P945P ZC3H4_uc002pgb.1_Intron NM_015168 NP_055983 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 945 nucleic acid binding|zinc ion binding skin(4)|ovary(2) 6 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) GAGGGTGCCCGGGGAGTGGGT 0.677 NA 37 185 0 0 0 0 ZNF677 342926 broad.mit.edu 37 19 53740463 53740463 + Missense_Mutation SNP T T G TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr19:53740463T>G uc002qbf.1 - 5 1702 c.1517A>C c.(1516-1518)AAG>ACG p.K506T ZNF677_uc002qbg.1_Missense_Mutation_p.K506T NM_182609 NP_872415 Q86XU0 ZN677_HUMAN zinc finger protein 677 506 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00352) ATGGATTTTCTTATGCTGAGT 0.388 NA 5 74 0 0 0 0 TPO 7173 broad.mit.edu 37 2 1459959 1459959 + Missense_Mutation SNP G G A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr2:1459959G>A uc002qww.2 + 7 815 c.724G>A c.(724-726)GCG>ACG p.A242T TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.A242T|TPO_uc002qwr.2_Missense_Mutation_p.A242T|TPO_uc002qwx.2_Missense_Mutation_p.A242T|TPO_uc010yio.1_Missense_Mutation_p.A242T|TPO_uc010yip.1_Missense_Mutation_p.A242T NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 242 Extracellular (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity p.A242A(1) ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CCACGACATCGCGTTCACACC 0.498 NA 7 58 0 0 0 0 PXDN 7837 broad.mit.edu 37 2 1648500 1648500 + Silent SNP G G A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr2:1648500G>A uc002qxa.2 - 18 3697 c.3633C>T c.(3631-3633)ATC>ATT p.I1211I NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 1211 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) GAAACAGGTCGATGTTGAGTG 0.498 NA 10 32 0 0 0 0 LRRTM1 347730 broad.mit.edu 37 2 80530510 80530510 + Silent SNP C C T TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr2:80530510C>T uc002sok.1 - 2 705 c.435G>A c.(433-435)TCG>TCA p.S145S CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA NM_178839 NP_849161 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 145 LRR 3.|Lumenal (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GCTTGTTGTACGAGAGGTCCA 0.632 NA HNSCC(69;0.2) 13 90 0 0 0 0 ANKRD36 375248 broad.mit.edu 37 2 97869931 97869931 + Missense_Mutation SNP A A T rs76309140 TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr2:97869931A>T uc010yva.1 + 50 3236 c.2992A>T c.(2992-2994)ACA>TCA p.T998S ANKRD36_uc002sxp.3_RNA NM_001164315 NP_001157787 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 998 0 CATTCAGGCTACAAGTGATGA 0.289 NA 5 37 0 0 0 0 EIF5B 9669 broad.mit.edu 37 2 99980764 99980764 + Missense_Mutation SNP A A C TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr2:99980764A>C uc002tab.2 + 6 1352 c.1168A>C c.(1168-1170)AAA>CAA p.K390Q NM_015904 NP_056988 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 390 regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity ovary(2)|pancreas(1) 3 aagagaaaggaaaaagcaaaa 0.274 NA 11 104 0 0 0 0 CCDC74A 90557 broad.mit.edu 37 2 132290462 132290462 + Missense_Mutation SNP A A G TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr2:132290462A>G uc002tta.2 + 6 954 c.902A>G c.(901-903)GAA>GGA p.E301G CCDC74A_uc002ttb.2_Missense_Mutation_p.E235G NM_138770 NP_620125 Q96AQ1 CC74A_HUMAN coiled-coil domain containing 74A 301 skin(1) 1 TCCCTCCTGGAAGGGAGCCAG 0.692 NA 13 56 0 0 0 0 LRP1B 53353 broad.mit.edu 37 2 141260621 141260621 + Missense_Mutation SNP A A G TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr2:141260621A>G uc002tvj.1 - 54 9545 c.8573T>C c.(8572-8574)CTT>CCT p.L2858P NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2858 Extracellular (Potential).|LDL-receptor class A 19. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AGTATTTAGAAGACACCGCCC 0.388 NA TSP Lung(27;0.18) 19 71 0 0 0 0 UPP2 151531 broad.mit.edu 37 2 158991382 158991382 + Missense_Mutation SNP C C T TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr2:158991382C>T uc002tzp.2 + 7 1128 c.934C>T c.(934-936)CGG>TGG p.R312W UPP2_uc002tzo.2_Missense_Mutation_p.R369W NM_173355 NP_775491 O95045 UPP2_HUMAN uridine phosphorylase 2 isoform a 312 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process cytosol|type III intermediate filament uridine phosphorylase activity 0 CATCAGACGGCGGCTTGGACT 0.493 NA 8 90 0 0 0 0 B3GALT1 8708 broad.mit.edu 37 2 168725997 168725997 + Missense_Mutation SNP C C A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr2:168725997C>A uc002udz.1 + 2 799 c.448C>A c.(448-450)CAT>AAT p.H150N NM_020981 NP_066191 Q9Y5Z6 B3GT1_HUMAN UDP-Gal:betaGlcNAc beta 150 Lumenal (Potential). lipid glycosylation|protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity ovary(2)|pancreas(1)|skin(1) 4 TGACTCCTACCATAACCTTAC 0.428 NA 9 51 0.000274275 0.00117641 1 0 TTN 7273 broad.mit.edu 37 2 179620992 179620992 + Missense_Mutation SNP G G C TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr2:179620992G>C uc010zfh.1 - 44 10922 c.10698C>G c.(10696-10698)GAC>GAG p.D3566E TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc002unb.2_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 3580 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) TCTCTCCACAGTCATTGTGTA 0.388 NA 32 111 0 0 0 0 SH3BP4 23677 broad.mit.edu 37 2 235950011 235950011 + Missense_Mutation SNP T T A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr2:235950011T>A uc002vvp.2 + 4 991 c.598T>A c.(598-600)TCC>ACC p.S200T SH3BP4_uc010fym.2_Missense_Mutation_p.S200T|SH3BP4_uc002vvq.2_Missense_Mutation_p.S200T NM_014521 NP_055336 Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 200 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding skin(3)|ovary(1) 4 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) CGCAGGTACATCCTCCTTCAC 0.537 NA 31 88 0 0 0 0 ANO7 50636 broad.mit.edu 37 2 242162677 242162677 + Missense_Mutation SNP G G A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr2:242162677G>A uc002wax.2 + 22 2663 c.2560G>A c.(2560-2562)GTC>ATC p.V854I NM_001001891 NP_001001891 Q6IWH7 ANO7_HUMAN transmembrane protein 16G isoform NGEP long 854 Helical; (Potential). cell junction|chloride channel complex|cytosol chloride channel activity pancreas(2)|central_nervous_system(1) 3 CCTGGCCTTCGTCATTGTGTT 0.567 NA 44 134 0 0 0 0 C20orf12 55184 broad.mit.edu 37 20 18371073 18371073 + Missense_Mutation SNP C C T TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr20:18371073C>T uc010zsa.1 - 18 2106 c.1897G>A c.(1897-1899)GGA>AGA p.G633R C20orf12_uc010zrz.1_Missense_Mutation_p.G152R|C20orf12_uc002wqp.3_Missense_Mutation_p.G324R|C20orf12_uc002wqr.3_RNA|C20orf12_uc002wqs.3_Missense_Mutation_p.G500R|C20orf12_uc002wqq.3_Missense_Mutation_p.G614R NM_001099407 NP_001092877 Q9NVP4 CT012_HUMAN hypothetical protein LOC55184 441 ANK 1. intracellular zinc ion binding ovary(1) 1 Myeloproliferative disorder(85;0.0122) CCCGTGGGTCCGACTTCCTTC 0.488 NA 16 130 0 0 0 0 PTPRT 11122 broad.mit.edu 37 20 40710552 40710552 + Silent SNP A A G TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr20:40710552A>G uc002xkg.2 - 30 4426 c.4242T>C c.(4240-4242)CGT>CGC p.R1414R PTPRT_uc010ggj.2_Silent_p.R1433R|PTPRT_uc010ggi.2_Silent_p.R617R NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1414 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) ATTTGTTGTTACGCAGTGTTT 0.502 NA 27 103 0 0 0 0 TUBB1 81027 broad.mit.edu 37 20 57598597 57598597 + Missense_Mutation SNP G G A rs147465283 TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr20:57598597G>A uc002yak.2 + 3 488 c.219G>A c.(217-219)ATG>ATA p.M73I NM_030773 NP_110400 Q9H4B7 TBB1_HUMAN beta tubulin 1, class VI 73 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity ovary(1) 1 all_lung(29;0.00711) Colorectal(105;0.109) Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309) CTGGGACGATGGACAGCATTC 0.463 NA 30 106 0 0 0 0 SERPIND1 3053 broad.mit.edu 37 22 21134259 21134259 + Missense_Mutation SNP C C T TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr22:21134259C>T uc002ztb.1 + 2 726 c.659C>T c.(658-660)TCA>TTA p.S220L PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Missense_Mutation_p.S248L NM_000185 NP_000176 P05546 HEP2_HUMAN heparin cofactor II precursor 220 blood coagulation|chemotaxis|regulation of proteolysis extracellular region heparin binding|serine-type endopeptidase inhibitor activity 0 all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) Ardeparin(DB00407) ACACTGCGGTCAGTCAATGAC 0.433 NA 90 321 0 0 0 0 SERPIND1 3053 broad.mit.edu 37 22 21134279 21134279 + Nonsense_Mutation SNP C C T TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr22:21134279C>T uc002ztb.1 + 2 746 c.679C>T c.(679-681)CAG>TAG p.Q227* PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Nonsense_Mutation_p.Q255* NM_000185 NP_000176 P05546 HEP2_HUMAN heparin cofactor II precursor 227 blood coagulation|chemotaxis|regulation of proteolysis extracellular region heparin binding|serine-type endopeptidase inhibitor activity 0 all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) Ardeparin(DB00407) CCTTTATATCCAGAAGCAGTT 0.438 NA 135 319 0 0 0 0 SERPIND1 3053 broad.mit.edu 37 22 21134359 21134359 + Silent SNP C C T TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr22:21134359C>T uc002ztb.1 + 2 826 c.759C>T c.(757-759)TTC>TTT p.F253F PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Silent_p.F281F NM_000185 NP_000176 P05546 HEP2_HUMAN heparin cofactor II precursor 253 blood coagulation|chemotaxis|regulation of proteolysis extracellular region heparin binding|serine-type endopeptidase inhibitor activity 0 all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) Ardeparin(DB00407) TAGCTGACTTCTCAGACCCTG 0.433 NA 378 576 0 0 0 0 SERPIND1 3053 broad.mit.edu 37 22 21134379 21134379 + Nonsense_Mutation SNP C C G rs76882693 TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr22:21134379C>G uc002ztb.1 + 2 846 c.779C>G c.(778-780)TCA>TGA p.S260* PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Nonsense_Mutation_p.S288* NM_000185 NP_000176 P05546 HEP2_HUMAN heparin cofactor II precursor 260 blood coagulation|chemotaxis|regulation of proteolysis extracellular region heparin binding|serine-type endopeptidase inhibitor activity 0 all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) Ardeparin(DB00407) GCCTTCATATCAAAAACCAAC 0.438 NA 392 548 0 0 0 0 SERPIND1 3053 broad.mit.edu 37 22 21134470 21134470 + Silent SNP C C T TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr22:21134470C>T uc002ztb.1 + 2 937 c.870C>T c.(868-870)CTC>CTT p.L290L PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Silent_p.L318L NM_000185 NP_000176 P05546 HEP2_HUMAN heparin cofactor II precursor 290 blood coagulation|chemotaxis|regulation of proteolysis extracellular region heparin binding|serine-type endopeptidase inhibitor activity 0 all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) Ardeparin(DB00407) TGATGATTCTCAACTGCATCT 0.418 NA 397 530 0 0 0 0 SERPIND1 3053 broad.mit.edu 37 22 21134479 21134479 + Silent SNP C C T TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr22:21134479C>T uc002ztb.1 + 2 946 c.879C>T c.(877-879)ATC>ATT p.I293I PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Silent_p.I321I NM_000185 NP_000176 P05546 HEP2_HUMAN heparin cofactor II precursor 293 blood coagulation|chemotaxis|regulation of proteolysis extracellular region heparin binding|serine-type endopeptidase inhibitor activity 0 all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) Ardeparin(DB00407) TCAACTGCATCTACTTCAAAG 0.423 NA 387 522 0 0 0 0 SUSD2 56241 broad.mit.edu 37 22 24582117 24582117 + Silent SNP G G A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr22:24582117G>A uc002zzn.1 + 9 1517 c.1473G>A c.(1471-1473)ACG>ACA p.T491T NM_019601 NP_062547 Q9UGT4 SUSD2_HUMAN sushi domain containing 2 precursor 491 VWFD.|Extracellular (Potential). immune response integral to membrane polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 AGCCCGGGACGATGTCCAACG 0.662 NA 4 21 0 0 0 0 XRCC6 2547 broad.mit.edu 37 22 42032124 42032124 + Missense_Mutation SNP A A G TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr22:42032124A>G uc003bao.1 + 4 273 c.203A>G c.(202-204)CAA>CGA p.Q68R XRCC6_uc003bap.1_Intron|XRCC6_uc011apc.1_Missense_Mutation_p.Q18R|XRCC6_uc003baq.1_Missense_Mutation_p.Q68R|XRCC6_uc003bar.1_Missense_Mutation_p.Q68R|XRCC6_uc003bas.1_Missense_Mutation_p.Q18R NM_001469 NP_001460 P12956 XRCC6_HUMAN ATP-dependent DNA helicase II, 70 kDa subunit 68 DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex 5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding skin(2)|ovary(1)|lung(1)|kidney(1) 5 CAGTGTATCCAAAGTGTGTAC 0.338 NA Direct_reversal_of_damage|NHEJ 7 34 0 0 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50664276 50664276 + Missense_Mutation SNP C C T TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr22:50664276C>T uc003bkb.1 - 10 2442 c.1930G>A c.(1930-1932)GTT>ATT p.V644I TUBGCP6_uc010har.1_Missense_Mutation_p.V644I|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hat.1_5'Flank|TUBGCP6_uc003bkd.1_5'UTR NM_020461 NP_065194 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 644 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding ovary(2)|central_nervous_system(2) 4 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) ATGCGCCCAACGTAGACGGCA 0.607 NA 5 36 0 0 0 0 TRANK1 9881 broad.mit.edu 37 3 36897578 36897578 + Missense_Mutation SNP A A G TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr3:36897578A>G uc003cgj.2 - 3 2155 c.1853T>C c.(1852-1854)CTT>CCT p.L618P NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 1168 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 GGACTTGGAAAGCTCAATGAA 0.483 NA 37 115 0 0 0 0 MST1 4485 broad.mit.edu 37 3 49721591 49721591 + Missense_Mutation SNP G G A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr3:49721591G>A uc003cxg.2 - 18 2120 c.2048C>T c.(2047-2049)ACC>ATC p.T683I NM_020998 NP_066278 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth 669 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GCAGTTGTGGGTAAAGCAGGC 0.562 NA 8 36 0 0 0 0 EPHA3 2042 broad.mit.edu 37 3 89521703 89521703 + Missense_Mutation SNP A A T TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr3:89521703A>T uc003dqy.2 + 16 3005 c.2780A>T c.(2779-2781)CAC>CTC p.H927L EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 927 Cytoplasmic (Potential).|SAM. extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) TGGACAGCACACTGCAAGGAA 0.428 NA TSP Lung(6;0.00050) 16 149 0 0 0 0 BOC 91653 broad.mit.edu 37 3 112991529 112991529 + Missense_Mutation SNP C C G TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr3:112991529C>G uc003dzx.2 + 7 1561 c.940C>G c.(940-942)CTC>GTC p.L314V BOC_uc003dzy.2_Missense_Mutation_p.L314V|BOC_uc003dzz.2_Missense_Mutation_p.L314V|BOC_uc003eab.2_Missense_Mutation_p.L15V NM_033254 NP_150279 Q9BWV1 BOC_HUMAN brother of CDO precursor 314 Ig-like C2-type 3.|Extracellular (Potential). cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1) 6 Epithelial(53;0.227) AGCGGTCATCCTCTACAATGT 0.582 NA 7 41 0 0 0 0 C3orf15 89876 broad.mit.edu 37 3 119459395 119459395 + Splice_Site SNP G G T TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr3:119459395G>T uc003ede.3 + 13 1611 c.1534_splice c.e13-1 p.M512_splice C3orf15_uc010hqy.1_Splice_Site_p.M512_splice|C3orf15_uc010hqz.2_Splice_Site_p.M450_splice|C3orf15_uc011bjd.1_Splice_Site_p.M386_splice|C3orf15_uc011bje.1_Splice_Site_p.M492_splice|C3orf15_uc010hra.1_Splice_Site_p.M273_splice NM_033364 NP_203528 Q7Z4T9 AAT1_HUMAN AAT1-alpha mitochondrion protein binding ovary(2)|pancreas(1) 3 GBM - Glioblastoma multiforme(114;0.186) ATTTGATACAGATGTTTGAAG 0.468 NA 11 75 9.31e-06 4.11e-05 1 0 GOLGB1 2804 broad.mit.edu 37 3 121409852 121409852 + Missense_Mutation SNP C C T TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr3:121409852C>T uc003eei.3 - 14 8470 c.8344G>A c.(8344-8346)GAT>AAT p.D2782N GOLGB1_uc010hrc.2_Missense_Mutation_p.D2787N|GOLGB1_uc003eej.3_Missense_Mutation_p.D2748N NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 2782 Cytoplasmic (Potential).|Potential. Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) AGAAGAGCATCTCTCTCTCTG 0.418 NA 7 76 0 0 0 0 C3orf37 56941 broad.mit.edu 37 3 129009622 129009622 + Missense_Mutation SNP A A G rs142370950 TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr3:129009622A>G uc003elt.2 + 4 516 c.428A>G c.(427-429)TAT>TGT p.Y143C C3orf37_uc003elu.2_Intron|C3orf37_uc003elv.2_Missense_Mutation_p.Y143C|C3orf37_uc003elw.2_Missense_Mutation_p.Y143C NM_020187 NP_064572 Q96FZ2 CC037_HUMAN hypothetical protein LOC56941 143 ovary(1) 1 TACTTCATCTATTTTCCTCAA 0.413 NA 11 73 0 0 0 0 CEP63 80254 broad.mit.edu 37 3 134278043 134278043 + Missense_Mutation SNP A A C TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr3:134278043A>C uc003eqo.1 + 15 2174 c.1725A>C c.(1723-1725)AAA>AAC p.K575N CEP63_uc003eql.1_Intron|CEP63_uc003eqm.2_Intron|CEP63_uc003eqn.1_Intron NM_025180 NP_079456 Q96MT8 CEP63_HUMAN centrosomal protein 63 isoform a 575 cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly centrosome|cytosol|spindle pole protein binding ovary(1) 1 AGCACTACAAAACAGATCTTC 0.443 NA 53 168 0 0 0 0 ATR 545 broad.mit.edu 37 3 142180856 142180856 + Missense_Mutation SNP T T A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr3:142180856T>A uc003eux.3 - 42 7240 c.7118A>T c.(7117-7119)GAA>GTA p.E2373V ATR_uc003euy.1_Missense_Mutation_p.E259V NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 2373 PI3K/PI4K. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 AATCCCACATTCATCATTTAG 0.313 NA Other_conserved_DNA_damage_response_genes 47 189 0 0 0 0 LRRC15 131578 broad.mit.edu 37 3 194080176 194080176 + Missense_Mutation SNP T T C TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr3:194080176T>C uc003ftu.2 - 2 1683 c.1597A>G c.(1597-1599)ACC>GCC p.T533A LRRC15_uc003ftt.2_Missense_Mutation_p.T539A NM_130830 NP_570843 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 isoform b 533 Extracellular (Potential). integral to membrane ovary(3) 3 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) TGGGCCTGGGTCATGCCCCAA 0.587 NA 5 113 0 0 0 0 MFI2 4241 broad.mit.edu 37 3 196753556 196753556 + Silent SNP C C T rs138189044 TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr3:196753556C>T uc003fxk.3 - 3 392 c.279G>A c.(277-279)CCG>CCA p.P93P MFI2_uc003fxl.3_Silent_p.P93P|MFI2_uc011bua.1_Silent_p.P93P NM_005929 NP_005920 P08582 TRFM_HUMAN melanoma-associated antigen p97 isoform 1 93 Transferrin-like 1. cellular iron ion homeostasis|iron ion transport anchored to membrane|extracellular region|integral to plasma membrane ferric iron binding|protein binding 0 all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00536) CGCCCACCACCGGCTTCAGGC 0.617 NA 9 124 0 0 0 0 IDUA 3425 broad.mit.edu 37 4 996204 996204 + Missense_Mutation SNP A A C TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr4:996204A>C uc003gby.2 + 8 1208 c.1120A>C c.(1120-1122)ACC>CCC p.T374P IDUA_uc003gbz.2_RNA|IDUA_uc003gca.2_Missense_Mutation_p.T396P NM_000203 NP_000194 P35475 IDUA_HUMAN alpha-L-iduronidase precursor 374 disaccharide metabolic process lysosome cation binding|L-iduronidase activity 0 OV - Ovarian serous cystadenocarcinoma(23;0.0158) Laronidase(DB00090) GGTCAACAACACCCGCCCGCC 0.711 NA 4 5 0 0 0 0 C4orf23 152992 broad.mit.edu 37 4 8472843 8472843 + Silent SNP C C T TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr4:8472843C>T uc003glg.1 + 10 1461 c.1273C>T c.(1273-1275)CTG>TTG p.L425L C4orf23_uc003glh.1_Silent_p.L262L|C4orf23_uc003gli.1_5'Flank NM_152544 NP_689757 Q8IYL2 TRM44_HUMAN hypothetical protein LOC152992 isoform 2 654 tRNA processing cytoplasm methyltransferase activity|nucleic acid binding|zinc ion binding 0 AGCCAACGAGCTGGACACGGA 0.557 NA 24 212 0 0 0 0 BOD1L 259282 broad.mit.edu 37 4 13603427 13603427 + Silent SNP T T C TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr4:13603427T>C uc003gmz.1 - 10 5214 c.5097A>G c.(5095-5097)GCA>GCG p.A1699A BOD1L_uc010idr.1_Silent_p.A1036A NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1699 DNA binding ovary(5)|breast(1) 6 TTATAGATCCTGCTCTTATCT 0.418 NA 38 388 0 0 0 0 RFC1 5981 broad.mit.edu 37 4 39308288 39308288 + Missense_Mutation SNP C C A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr4:39308288C>A uc003gty.1 - 14 2056 c.1922G>T c.(1921-1923)GGC>GTC p.G641V RFC1_uc003gtx.1_Missense_Mutation_p.G640V NM_002913 NP_002904 P35251 RFC1_HUMAN replication factor C large subunit 641 G -> N (in Ref. 2, 3 and 4). DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding ovary(2)|pancreas(1)|skin(1) 4 AAAACTAGAGCCATCATCTTT 0.473 NA 5 47 3.6e-05 0.000157662 1 0 UGT2B4 7363 broad.mit.edu 37 4 70346487 70346487 + Silent SNP G G A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr4:70346487G>A uc003hek.3 - 6 1499 c.1452C>T c.(1450-1452)ACC>ACT p.T484T UGT2B4_uc011cap.1_Silent_p.T348T|UGT2B4_uc003hel.3_3'UTR NM_021139 NP_066962 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2B4 precursor 484 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(2) 2 ACTGGAACCAGGTGAGGTCGT 0.498 NA 35 169 0 0 0 0 C4orf17 84103 broad.mit.edu 37 4 100451030 100451030 + Missense_Mutation SNP C C T rs145411536 byFrequency TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr4:100451030C>T uc003huw.2 + 5 784 c.461C>T c.(460-462)TCC>TTC p.S154F C4orf17_uc003hux.2_RNA NM_032149 NP_115525 Q53FE4 CD017_HUMAN hypothetical protein LOC84103 154 0 OV - Ovarian serous cystadenocarcinoma(123;2.08e-08) ACTCCTGGCTCCTGTTCTTCA 0.378 NA 15 41 0 0 0 0 ANK2 287 broad.mit.edu 37 4 114257135 114257135 + Silent SNP G G A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr4:114257135G>A uc003ibe.3 + 30 3613 c.3513G>A c.(3511-3513)CTG>CTA p.L1171L ANK2_uc003ibd.3_Silent_p.L1162L|ANK2_uc003ibf.3_Silent_p.L1171L|ANK2_uc011cgc.1_Silent_p.L347L|ANK2_uc003ibg.3_Silent_p.L166L|ANK2_uc003ibc.2_Silent_p.L1147L|ANK2_uc011cgb.1_Silent_p.L1186L NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 1138 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GAGGTGTACTGAGCAGCACAG 0.567 NA 11 90 0 0 0 0 PCDH18 54510 broad.mit.edu 37 4 138451748 138451748 + Missense_Mutation SNP G G T TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr4:138451748G>T uc003ihe.3 - 1 1882 c.1495C>A c.(1495-1497)CAA>AAA p.Q499K PCDH18_uc003ihf.3_Missense_Mutation_p.Q492K|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.Q279K|PCDH18_uc011cha.1_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN protocadherin 18 precursor 499 Extracellular (Potential).|Cadherin 5. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding pancreas(3)|skin(2) 5 all_hematologic(180;0.24) TATGTCACTTGCCCATTTTCT 0.408 NA 17 135 1.03e-11 4.77e-11 1 0 TRIO 7204 broad.mit.edu 37 5 14485179 14485179 + Missense_Mutation SNP T T G TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr5:14485179T>G uc003jff.2 + 47 6665 c.6659T>G c.(6658-6660)GTG>GGG p.V2220G TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Missense_Mutation_p.V1869G NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 2220 PH 2. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) TTTTTTAAGGTGAGTTGCCTT 0.239 NA 9 59 0 0 0 0 CDH10 1008 broad.mit.edu 37 5 24505329 24505329 + Missense_Mutation SNP C C T TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr5:24505329C>T uc003jgr.1 - 8 1617 c.1285G>A c.(1285-1287)GAC>AAC p.D429N CDH10_uc011cnu.1_Intron NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 429 Cadherin 4.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) AAGATTCTGTCAAGGTCAGTA 0.368 NA HNSCC(23;0.051) 4 44 0 0 0 0 AMACR 23600 broad.mit.edu 37 5 33998863 33998863 + Missense_Mutation SNP G G C TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr5:33998863G>C uc003jig.2 - 4 704 c.622C>G c.(622-624)CGA>GGA p.R208G AMACR_uc003jih.2_Missense_Mutation_p.S154W|AMACR_uc003jii.2_Missense_Mutation_p.R193G|AMACR_uc003jij.2_Missense_Mutation_p.R208G|AMACR_uc003jil.1_Missense_Mutation_p.R208G|AMACR_uc003jik.1_Missense_Mutation_p.S154W NM_014324 NP_055139 Q9UHK6 AMACR_HUMAN alpha-methylacyl-CoA racemase isoform 1 208 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase mitochondrion|peroxisomal matrix alpha-methylacyl-CoA racemase activity 0 TTCTGTCCTCGAGGTGCTTCC 0.433 NA 6 120 0 0 0 0 MRPS30 10884 broad.mit.edu 37 5 44809264 44809264 + Missense_Mutation SNP A A T TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr5:44809264A>T uc003joh.2 + 1 238 c.200A>T c.(199-201)CAG>CTG p.Q67L MRPS30_uc003joi.1_5'Flank NM_016640 NP_057724 Q9NP92 RT30_HUMAN mitochondrial ribosomal protein S30 67 apoptosis|translation mitochondrion|ribosome structural constituent of ribosome 0 Lung NSC(6;8.08e-07) GAGCGCTGGCAGGCGACGGTG 0.637 NA 12 34 0 0 0 0 ACTBL2 345651 broad.mit.edu 37 5 56777772 56777772 + Missense_Mutation SNP G G A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr5:56777772G>A uc003jrm.2 - 1 865 c.763C>T c.(763-765)CGC>TGC p.R255C NM_001017992 NP_001017992 Q562R1 ACTBL_HUMAN actin, beta-like 2 255 cytoplasm|cytoskeleton ATP binding ovary(3) 3 Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;4.24e-37) CATCGGAAGCGTTCATTCCCA 0.532 NA 9 51 0 0 0 0 HTR1A 3350 broad.mit.edu 37 5 63256301 63256301 + Missense_Mutation SNP T T C TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr5:63256301T>C uc011cqt.1 - 1 1246 c.1246A>G c.(1246-1248)AAG>GAG p.K416E NM_000524 NP_000515 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A 416 Cytoplasmic (By similarity). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity ovary(2)|pancreas(2) 4 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) AACTTACACTTAATGATCTTC 0.498 NA 31 247 0 0 0 0 LYSMD3 116068 broad.mit.edu 37 5 89821073 89821073 + Missense_Mutation SNP G G A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr5:89821073G>A uc003kjr.2 - 2 182 c.34C>T c.(34-36)CTT>TTT p.L12F LYSMD3_uc010jaz.1_Missense_Mutation_p.L12F|LYSMD3_uc003kjs.1_Missense_Mutation_p.L12F NM_198273 NP_938014 Q7Z3D4 LYSM3_HUMAN LysM, putative peptidoglycan-binding, domain 12 Extracellular (Potential). cell wall macromolecule catabolic process integral to membrane 0 all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22) ACTCCTGGAAGAGGAAAACTA 0.403 NA 4 48 0 0 0 0 GIN1 54826 broad.mit.edu 37 5 102442428 102442428 + Missense_Mutation SNP T T G TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr5:102442428T>G uc003koa.1 - 3 407 c.325A>C c.(325-327)AAA>CAA p.K109Q GIN1_uc003kob.1_Intron|GIN1_uc003koc.1_Missense_Mutation_p.K109Q NM_017676 NP_060146 Q9NXP7 GIN1_HUMAN zinc finger, H2C2 domain containing 109 DNA integration DNA binding ovary(1)|skin(1) 2 all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283) Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794) ACCCACTGTTTGACATCATTG 0.353 NA 4 27 0 0 0 0 PJA2 9867 broad.mit.edu 37 5 108714181 108714181 + Missense_Mutation SNP T T C TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr5:108714181T>C uc003kos.3 - 4 1227 c.1007A>G c.(1006-1008)CAT>CGT p.H336R NM_014819 NP_055634 O43164 PJA2_HUMAN praja 2, RING-H2 motif containing 336 long-term memory|regulation of protein kinase A signaling cascade cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding ovary(1)|skin(1) 2 all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151) OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224) TTTCGCCTCATGCCTATTAAA 0.408 NA 49 208 0 0 0 0 KCNN2 3781 broad.mit.edu 37 5 113740539 113740539 + Silent SNP C C T TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr5:113740539C>T uc003kqo.2 + 3 1444 c.987C>T c.(985-987)GTC>GTT p.V329V NM_021614 NP_067627 Q9H2S1 KCNN2_HUMAN small conductance calcium-activated potassium 329 integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity ovary(2) 2 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) CATGGACTGTCCGAGCTTGTG 0.348 NA 26 174 0 0 0 0 PCDHA13 56136 broad.mit.edu 37 5 140263296 140263296 + Silent SNP C C T TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr5:140263296C>T uc003lif.2 + 1 1443 c.1443C>T c.(1441-1443)GAC>GAT p.D481D PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.D481D|PCDHA13_uc003lid.2_Silent_p.D481D NM_018904 NP_061727 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 isoform 1 precursor 481 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGCTCAGGACGCGGACGCAC 0.662 NA 34 137 0 0 0 0 PCDHA13 56136 broad.mit.edu 37 5 140263844 140263844 + Missense_Mutation SNP C C T TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr5:140263844C>T uc003lif.2 + 1 1991 c.1991C>T c.(1990-1992)ACG>ATG p.T664M PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.T664M|PCDHA13_uc003lid.2_Missense_Mutation_p.T664M NM_018904 NP_061727 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 isoform 1 precursor 664 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCACGGCAACGGTGCTGTTG 0.687 NA 26 111 0 0 0 0 RBM27 54439 broad.mit.edu 37 5 145609363 145609363 + Missense_Mutation SNP A A G TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr5:145609363A>G uc003lnz.3 + 5 645 c.479A>G c.(478-480)TAT>TGT p.Y160C RBM27_uc003lny.2_Missense_Mutation_p.Y160C NM_018989 NP_061862 Q9P2N5 RBM27_HUMAN RNA binding motif protein 27 160 Arg-rich. mRNA processing cytoplasm|nuclear speck nucleotide binding|RNA binding|zinc ion binding central_nervous_system(2)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CGTGAGAAGTATGACTGGAGA 0.413 NA 71 104 0 0 0 0 EBF1 1879 broad.mit.edu 37 5 158140094 158140094 + Missense_Mutation SNP T T A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr5:158140094T>A uc010jip.2 - 13 1555 c.1253A>T c.(1252-1254)CAC>CTC p.H418L EBF1_uc011ddw.1_Missense_Mutation_p.H286L|EBF1_uc011ddx.1_Missense_Mutation_p.H419L|EBF1_uc003lxl.3_Missense_Mutation_p.H387L NM_024007 NP_076870 Q9UH73 COE1_HUMAN early B-cell factor 418 multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GAGTTGGTTGTGGTTGCGGGG 0.562 NA T HMGA2 lipoma 24 45 0 0 0 0 GABRA1 2554 broad.mit.edu 37 5 161324318 161324318 + Nonsense_Mutation SNP C C T TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr5:161324318C>T uc010jiw.2 + 11 1729 c.1261C>T c.(1261-1263)CGA>TGA p.R421* GABRA1_uc010jix.2_Nonsense_Mutation_p.R421*|GABRA1_uc010jiy.2_Nonsense_Mutation_p.R421*|GABRA1_uc003lyx.3_Nonsense_Mutation_p.R421*|GABRA1_uc010jiz.2_Nonsense_Mutation_p.R421*|GABRA1_uc010jja.2_Nonsense_Mutation_p.R421*|GABRA1_uc010jjb.2_Nonsense_Mutation_p.R421* NM_000806 NP_000797 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 421 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway|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 ovary(2)|pancreas(1) 3 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) CAAAATTGACCGACTGTCAAG 0.443 NA 48 172 0 0 0 0 HIST1H4E 8367 broad.mit.edu 37 6 26205156 26205156 + Missense_Mutation SNP G G A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr6:26205156G>A uc003ngy.2 + 1 284 c.284G>A c.(283-285)GGA>GAA p.G95E NM_003545 NP_003536 P62805 H4_HUMAN histone cluster 1, H4e 95 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding ovary(1) 1 all_hematologic(11;0.196) AAGAGACAGGGACGCACTCTT 0.527 NA 16 60 0 0 0 0 HLA-A 3105 broad.mit.edu 37 6 29911172 29911172 + Nonsense_Mutation SNP G G A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr6:29911172G>A uc003nol.2 + 3 471 c.471G>A c.(469-471)TGG>TGA p.W157* HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_RNA|HLA-A_uc010jrq.2_Nonsense_Mutation_p.W36*|HLA-A_uc003nok.2_Nonsense_Mutation_p.W36*|HLA-A_uc003non.2_Nonsense_Mutation_p.W157*|HLA-A_uc003noo.2_Nonsense_Mutation_p.W157*|HLA-A_uc010jrr.2_Nonsense_Mutation_p.W157*|HLA-A_uc003nom.2_Nonsense_Mutation_p.W36*|HLA-A_uc010klp.2_Nonsense_Mutation_p.W129*|HLA-A_uc011dmc.1_Nonsense_Mutation_p.W36*|HLA-A_uc011dmd.1_Nonsense_Mutation_p.W36* NM_002116 NP_002107 P30443 1A01_HUMAN major histocompatibility complex, class I, A 157 Extracellular (Potential).|Alpha-2. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity upper_aerodigestive_tract(1)|ovary(1) 2 TGCGCTCTTGGACCGCGGCGG 0.672 NA Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of Multiple Myeloma(9;0.094) 9 32 0 0 0 0 TNXB 7148 broad.mit.edu 37 6 32029356 32029356 + Missense_Mutation SNP C C A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr6:32029356C>A uc003nzl.2 - 21 7512 c.7310G>T c.(7309-7311)CGC>CTC p.R2437L NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 2497 Fibronectin type-III 17. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 GGAGTCGAAGCGGCCCTGGGG 0.701 NA 5 71 0.00198382 0.00835786 1 0 IP6K3 117283 broad.mit.edu 37 6 33703227 33703227 + Silent SNP G G A rs150212654 TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr6:33703227G>A uc010jvf.2 - 3 563 c.27C>T c.(25-27)GCC>GCT p.A9A IP6K3_uc003ofb.2_Silent_p.A9A NM_001142883 NP_001136355 Q96PC2 IP6K3_HUMAN inositol hexakisphosphate kinase 3 9 inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation cytoplasm ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity 0 TCATGTCCCCGGCGTCTGCGC 0.617 NA 6 42 0 0 0 0 DOPEY1 23033 broad.mit.edu 37 6 83835435 83835435 + Missense_Mutation SNP G G A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr6:83835435G>A uc003pjs.1 + 15 1962 c.1702G>A c.(1702-1704)GAG>AAG p.E568K DOPEY1_uc011dyy.1_Missense_Mutation_p.E559K|DOPEY1_uc010kbl.1_Missense_Mutation_p.E559K NM_015018 NP_055833 Q5JWR5 DOP1_HUMAN dopey family member 1 568 protein transport ovary(2)|breast(1)|central_nervous_system(1) 4 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) TTCAGTCAAAGAGTGGGAAGA 0.368 NA 9 58 0 0 0 0 C6orf186 728464 broad.mit.edu 37 6 110636640 110636640 + Silent SNP A A G TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr6:110636640A>G uc010kdu.1 - 3 462 c.462T>C c.(460-462)TCT>TCC p.S154S C6orf186_uc003pub.2_Intron NM_001123364 NP_001116836 Q5JXM2 CF186_HUMAN chromosome 6 open reading frame 186 precursor 154 extracellular region 0 GTGTAGGACTAGAGTCAGTAG 0.433 NA 13 85 0 0 0 0 REV3L 5980 broad.mit.edu 37 6 111697876 111697876 + Missense_Mutation SNP T T C TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr6:111697876T>C uc003puy.3 - 13 2005 c.1682A>G c.(1681-1683)CAC>CGC p.H561R REV3L_uc003pux.3_Missense_Mutation_p.H483R|REV3L_uc003puz.3_Missense_Mutation_p.H483R NM_002912 NP_002903 O60673 DPOLZ_HUMAN DNA polymerase zeta 561 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding large_intestine(2)|ovary(2)|skin(2) 6 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) AGCATCTTTGTGAAAGATGGA 0.393 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 8 110 0 0 0 0 KATNA1 11104 broad.mit.edu 37 6 149944272 149944272 + Silent SNP T T C TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr6:149944272T>C uc003qmr.1 - 3 513 c.468A>G c.(466-468)GAA>GAG p.E156E KATNA1_uc003qms.2_Silent_p.E156E|KATNA1_uc003qmt.2_Silent_p.E156E|KATNA1_uc011eed.1_Silent_p.E156E NM_007044 NP_008975 O75449 KTNA1_HUMAN katanin p60 subunit A 1 156 Interaction with microtubule. cell division|interphase of mitotic cell cycle|mitosis microtubule|microtubule organizing center|spindle pole ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity skin(1) 1 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173) GTTCTTTCTTTTCACGACAAC 0.343 NA 8 55 0 0 0 0 MAP3K4 4216 broad.mit.edu 37 6 161530868 161530868 + Missense_Mutation SNP A A G TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr6:161530868A>G uc003qtn.2 + 23 4460 c.4318A>G c.(4318-4320)ATT>GTT p.I1440V MAP3K4_uc010kkc.1_Missense_Mutation_p.I1436V|MAP3K4_uc003qto.2_Missense_Mutation_p.I1390V|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.I893V|MAP3K4_uc003qtp.2_Missense_Mutation_p.I376V|MAP3K4_uc003qtq.2_Missense_Mutation_p.I129V NM_005922 NP_005913 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 1440 Protein kinase. activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding ovary(3)|lung(3)|skin(2)|stomach(1) 9 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) GGAACATGTGATTAGGCTGTA 0.488 NA 25 88 0 0 0 0 C6orf70 55780 broad.mit.edu 37 6 170176742 170176742 + Missense_Mutation SNP G G T TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr6:170176742G>T uc003qxg.1 + 16 1745 c.1712G>T c.(1711-1713)CGG>CTG p.R571L C6orf70_uc011ehb.1_Missense_Mutation_p.R445L|C6orf70_uc003qxh.1_Intron|C6orf70_uc010kky.1_Intron|C6orf70_uc003qxi.1_Missense_Mutation_p.R219L NM_018341 NP_060811 Q5T6L9 CF070_HUMAN hypothetical protein LOC55780 571 integral to membrane ovary(1) 1 Breast(66;5.08e-05)|Ovarian(120;0.208) OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191) TCTCGCCAGCGGCAGAACTAC 0.597 NA 11 47 2.81e-09 1.28e-08 1 0 NOD1 10392 broad.mit.edu 37 7 30486644 30486644 + Missense_Mutation SNP C C T TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr7:30486644C>T uc003tav.2 - 8 2831 c.2308G>A c.(2308-2310)GAT>AAT p.D770N NM_006092 NP_006083 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain 770 LRR 4. activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity ovary(1)|skin(1) 2 GCTCCGACATCGGTGATCTGG 0.448 NA 30 147 0 0 0 0 ABCA13 154664 broad.mit.edu 37 7 48314127 48314127 + Missense_Mutation SNP C C T TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr7:48314127C>T uc003toq.2 + 17 4889 c.4864C>T c.(4864-4866)CCT>TCT p.P1622S ABCA13_uc010kyr.2_Missense_Mutation_p.P1125S NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 1622 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 AATAATTTCACCTGAAATAAT 0.378 NA 26 218 0 0 0 0 EGFR 1956 broad.mit.edu 37 7 55242489 55242489 + Silent SNP G G A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr7:55242489G>A uc003tqk.2 + 19 2505 c.2259G>A c.(2257-2259)CCG>CCA p.P753P EGFR_uc010kzg.1_Silent_p.P708P|EGFR_uc011kco.1_Silent_p.P700P NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 753 Cytoplasmic (Potential).|Protein kinase. Missing (found in a lung cancer sample). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.L747_P753>S(166)|p.L747_P753del(21)|p.L747_P753>Q(19)|p.S752_I759del(15)|p.T751_I759>N(8)|p.E746_P753>VS(6)|p.P753S(4)|p.T751_I759>S(3)|p.A750_E758>P(3)|p.A750_K757del(2)|p.A750_E758del(2)|p.E746_P753del(2)|p.T751_I759>NKA(2)|p.E749_E758>QP(2)|p.T751_E758del(2)|p.L747_K754>ST(1)|p.T751_E758>A(1)|p.E746_P753>VQ(1)|p.T751_I759>REA(1)|p.L747_A755del(1)|p.P753_I759del(1)|p.P753F(1)|p.L747_A755>SKS(1)|p.L747_K754>N(1)|p.A750_K754del(1)|p.L747_K754del(1)|p.L747_K754>GC(1)|p.L747_N756>SKDD(1)|p.E749_P753>Q(1)|p.L747_P753>CG(1)|p.S752_V769del(1)|p.P753P(1)|p.R748_P753del(1)|p.E746_P753>LS(1) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CAACATCTCCGAAAGCCAACA 0.493 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 7 70 0 0 0 0 CALN1 83698 broad.mit.edu 37 7 71252883 71252883 + Missense_Mutation SNP A A C TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr7:71252883A>C uc003twa.3 - 6 1064 c.537T>G c.(535-537)CAT>CAG p.H179Q CALN1_uc003twb.3_Missense_Mutation_p.H221Q|CALN1_uc003twc.3_Missense_Mutation_p.H179Q NM_001017440 NP_001017440 Q9BXU9 CABP8_HUMAN calneuron 1 isoform 2 179 Cytoplasmic (Potential). Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding skin(1) 1 all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161) GCTTCTGGGAATGCACTGGTG 0.512 NA 20 42 0 0 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94750101 94750101 + Missense_Mutation SNP G G A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr7:94750101G>A uc003unp.2 + 4 1888 c.1606G>A c.(1606-1608)GTC>ATC p.V536I PPP1R9A_uc010lfj.2_Missense_Mutation_p.V536I|PPP1R9A_uc011kif.1_Missense_Mutation_p.V536I|PPP1R9A_uc003unq.2_Missense_Mutation_p.V536I|PPP1R9A_uc011kig.1_Missense_Mutation_p.V536I NM_017650 NP_060120 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory (inhibitor) 536 PDZ. cell junction|synapse|synaptosome actin binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) GGGAATATTCGTCAAGACAGT 0.393 NA HNSCC(28;0.073) 35 98 0 0 0 0 SLC12A9 56996 broad.mit.edu 37 7 100463759 100463759 + Silent SNP C C A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr7:100463759C>A uc003uwp.2 + 14 2419 c.2277C>A c.(2275-2277)CCC>CCA p.P759P SLC12A9_uc011kki.1_Silent_p.P290P|SLC12A9_uc003uwr.2_Silent_p.P495P|SLC12A9_uc003uws.2_Silent_p.P290P|SLC12A9_uc003uwt.2_Silent_p.P495P|SLC12A9_uc003uwv.2_Silent_p.P290P|TRIP6_uc010lhk.1_5'Flank|TRIP6_uc003uww.2_5'Flank NM_020246 NP_064631 Q9BXP2 S12A9_HUMAN solute carrier family 12 (potassium/chloride 759 Helical; (Potential). integral to membrane|plasma membrane cation:chloride symporter activity 0 Lung NSC(181;0.041)|all_lung(186;0.0581) GCATGGTGCCCGCTTGGCATA 0.706 NA 5 120 0.00116845 0.00493729 1 0 RELN 5649 broad.mit.edu 37 7 103183184 103183184 + Missense_Mutation SNP T T C TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr7:103183184T>C uc003vca.2 - 43 6825 c.6665A>G c.(6664-6666)CAT>CGT p.H2222R RELN_uc010liz.2_Missense_Mutation_p.H2222R NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 2222 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TTACCTAGCATGTGATAAATC 0.378 NA 8 58 0 0 0 0 RELN 5649 broad.mit.edu 37 7 103270583 103270583 + Nonsense_Mutation SNP C C A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr7:103270583C>A uc003vca.2 - 20 2666 c.2506G>T c.(2506-2508)GGA>TGA p.G836* RELN_uc010liz.2_Nonsense_Mutation_p.G836* NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 836 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) AACTGAATTCCAAACTGCTTT 0.343 NA 7 72 0.000157383 0.000681197 1 0 DNAJB9 4189 broad.mit.edu 37 7 108213733 108213733 + Missense_Mutation SNP G G A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr7:108213733G>A uc003vfn.2 + 3 810 c.608G>A c.(607-609)TGC>TAC p.C203Y NM_012328 NP_036460 Q9UBS3 DNJB9_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 9 203 ER-associated protein catabolic process|protein folding endoplasmic reticulum|nucleolus heat shock protein binding|misfolded protein binding|unfolded protein binding 0 AGCAAGCACTGCAGGACTGTC 0.373 NA 18 60 0 0 0 0 TBXAS1 6916 broad.mit.edu 37 7 139575421 139575421 + Missense_Mutation SNP A A G TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr7:139575421A>G uc011kqv.1 + 3 388 c.224A>G c.(223-225)TAT>TGT p.Y75C TBXAS1_uc003vvh.2_Missense_Mutation_p.Y75C|TBXAS1_uc010lne.2_Missense_Mutation_p.Y7C|TBXAS1_uc011kqu.1_Intron|TBXAS1_uc003vvi.2_Missense_Mutation_p.Y75C|TBXAS1_uc003vvj.2_Missense_Mutation_p.Y75C|TBXAS1_uc011kqw.1_Silent_p.V45V|TBXAS1_uc011kqx.1_Missense_Mutation_p.Y75C NM_001130966 NP_001124438 P24557 THAS_HUMAN thromboxane A synthase 1, platelet isoform 74 Lumenal (Potential). hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity ovary(2)|breast(1) 3 Melanoma(164;0.0142) AGAAAGCTGTATGGACCTCTG 0.338 NA 3 52 0 0 0 0 PRKDC 5591 broad.mit.edu 37 8 48794645 48794645 + Missense_Mutation SNP A A G TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr8:48794645A>G uc003xqi.2 - 38 4847 c.4790T>C c.(4789-4791)TTG>TCG p.L1597S PRKDC_uc003xqj.2_Missense_Mutation_p.L1597S|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 1597 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CATGCCGTTCAAAACGGCACT 0.393 NA NHEJ 56 110 0 0 0 0 RNF19A 25897 broad.mit.edu 37 8 101273978 101273978 + Missense_Mutation SNP T T C TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr8:101273978T>C uc003yjj.1 - 9 1791 c.1474A>G c.(1474-1476)ACA>GCA p.T492A RNF19A_uc003yjk.1_Missense_Mutation_p.T492A NM_015435 NP_056250 Q9NV58 RN19A_HUMAN ring finger protein 19 492 microtubule cytoskeleton organization|protein modification process centrosome|integral to membrane ligase activity|transcription factor binding|zinc ion binding ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166) Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525) GCTACTGATGTTGTGTCTAAA 0.403 NA 110 72 0 0 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110476615 110476615 + Missense_Mutation SNP A A G TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr8:110476615A>G uc003yne.2 + 49 7658 c.7554A>G c.(7552-7554)ATA>ATG p.I2518M NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 2518 PbH1 1.|Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GGAATATTATATATGATATTA 0.363 NA HNSCC(38;0.096) 23 27 0 0 0 0 KCNQ3 3786 broad.mit.edu 37 8 133142023 133142023 + Missense_Mutation SNP A A C TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr8:133142023A>C uc003ytj.2 - 15 2330 c.2105T>G c.(2104-2106)GTG>GGG p.V702G KCNQ3_uc010mdt.2_Missense_Mutation_p.V690G NM_004519 NP_004510 O43525 KCNQ3_HUMAN potassium voltage-gated channel KQT-like protein 702 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) GTCAATGGTCACCTGGTGGAA 0.532 NA 8 148 0 0 0 0 TG 7038 broad.mit.edu 37 8 134030138 134030138 + Silent SNP C C T TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr8:134030138C>T uc003ytw.2 + 38 6719 c.6678C>T c.(6676-6678)GAC>GAT p.D2226D TG_uc010mdw.2_Silent_p.D985D|TG_uc011ljb.1_Silent_p.D595D|TG_uc011ljc.1_Silent_p.D359D NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 2226 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AGCAAGTGGACCAGTTCCTTG 0.617 NA 79 104 0 0 0 0 GPR20 2843 broad.mit.edu 37 8 142367504 142367504 + Missense_Mutation SNP C C T TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr8:142367504C>T uc003ywf.2 - 2 609 c.520G>A c.(520-522)GTG>ATG p.V174M NM_005293 NP_005284 Q99678 GPR20_HUMAN G protein-coupled receptor 20 174 Helical; Name=4; (Potential). integral to plasma membrane G-protein coupled receptor activity upper_aerodigestive_tract(1) 1 all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0415) GCCAGCCACACGAAGGCGCAC 0.711 NA 8 8 0 0 0 0 AGTPBP1 23287 broad.mit.edu 37 9 88207485 88207485 + Missense_Mutation SNP G G A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr9:88207485G>A uc011ltd.1 - 18 2591 c.2558C>T c.(2557-2559)TCA>TTA p.S853L AGTPBP1_uc004aod.3_Missense_Mutation_p.S479L|AGTPBP1_uc011ltc.1_Intron|AGTPBP1_uc010mqc.2_Missense_Mutation_p.S813L|AGTPBP1_uc011lte.1_Missense_Mutation_p.S865L NM_015239 NP_056054 Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 853 C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis cytosol|mitochondrion|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding ovary(4)|large_intestine(2)|skin(1) 7 CTGTAAAGTTGAATACGTATA 0.274 NA 15 63 0 0 0 0 ALG2 85365 broad.mit.edu 37 9 101980621 101980621 + Silent SNP C C T TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr9:101980621C>T uc004azf.2 - 2 916 c.846G>A c.(844-846)CAG>CAA p.Q282Q ALG2_uc004azg.2_Silent_p.Q189Q NM_033087 NP_149078 Q9H553 ALG2_HUMAN alpha-1,3-mannosyltransferase ALG2 282 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding ovary(2) 2 Acute lymphoblastic leukemia(62;0.0559) TCTTCAATTCCTGATAATGTT 0.483 NA 32 73 0 0 0 0 DENND1A 57706 broad.mit.edu 37 9 126414316 126414316 + Silent SNP G G A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr9:126414316G>A uc004bnz.1 - 9 827 c.594C>T c.(592-594)CTC>CTT p.L198L DENND1A_uc011lzl.1_Silent_p.L15L|DENND1A_uc004bny.1_Silent_p.L15L|DENND1A_uc011lzm.1_Silent_p.L166L|DENND1A_uc004boa.1_Silent_p.L198L|DENND1A_uc004bob.1_Silent_p.L168L|DENND1A_uc004boc.2_Silent_p.L166L NM_020946 NP_065997 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A isoform 1 198 DENN. cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity ovary(2) 2 TGCAAATGATGAGTATCCGGC 0.388 NA 9 35 0 0 0 0 FUBP3 8939 broad.mit.edu 37 9 133506175 133506175 + Silent SNP C C T TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr9:133506175C>T uc004bzr.1 + 13 1386 c.1278C>T c.(1276-1278)GGC>GGT p.G426G FUBP3_uc004bzs.1_Silent_p.G339G NM_003934 NP_003925 Q96I24 FUBP3_HUMAN far upstream element (FUSE) binding protein 3 426 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|RNA binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(145;0.000279) AGAAAGTTGGCGTACGTACAG 0.567 NA 6 19 0 0 0 0 ARSF 416 broad.mit.edu 37 X 3030221 3030221 + Missense_Mutation SNP C C T TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chrX:3030221C>T uc004cre.1 + 11 1618 c.1397C>T c.(1396-1398)TCA>TTA p.S466L ARSF_uc004crf.1_Missense_Mutation_p.S466L NM_004042 NP_004033 P54793 ARSF_HUMAN arylsulfatase F precursor 466 extracellular region arylsulfatase activity|metal ion binding ovary(2) 2 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) ccAGGTGGGTCAGTTTGGAAG 0.284 NA 25 28 0 0 0 0 TLR8 51311 broad.mit.edu 37 X 12937993 12937993 + Silent SNP A A T TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chrX:12937993A>T uc004cve.2 + 2 902 c.834A>T c.(832-834)ATA>ATT p.I278I TLR8_uc004cvd.2_Silent_p.I296I NM_138636 NP_619542 Q9NR97 TLR8_HUMAN toll-like receptor 8 precursor 278 Extracellular (Potential). cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity ovary(4)|lung(2)|large_intestine(1) 7 CAATTAATATAGATCGTTTTG 0.408 NA 12 47 0 0 0 0 FAM47C 442444 broad.mit.edu 37 X 37026544 37026544 + Missense_Mutation SNP T T C TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chrX:37026544T>C uc004ddl.1 + 1 75 c.61T>C c.(61-63)TAC>CAC p.Y21H NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 21 ovary(3) 3 CACGCCCTGGTACTGTGACAA 0.657 NA 12 13 0 0 0 0 ARHGEF9 23229 broad.mit.edu 37 X 62917122 62917122 + Silent SNP G G T TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chrX:62917122G>T uc004dvl.2 - 4 1283 c.444C>A c.(442-444)ATC>ATA p.I148I ARHGEF9_uc004dvj.1_Silent_p.I37I|ARHGEF9_uc004dvk.1_Silent_p.I10I|ARHGEF9_uc011mos.1_Silent_p.I127I|ARHGEF9_uc004dvm.1_Silent_p.I127I|ARHGEF9_uc011mot.1_Silent_p.I95I|ARHGEF9_uc004dvn.2_Silent_p.I155I NM_015185 NP_056000 O43307 ARHG9_HUMAN Cdc42 guanine exchange factor 9 148 DH. apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol Rho guanyl-nucleotide exchange factor activity ovary(5)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 8 TGTTCCCAAAGATTACCTTCA 0.468 NA 9 18 3.86e-05 0.000168701 1 0 ZMYND12 84217 broad.mit.edu 37 1 42905661 42905664 + Frame_Shift_Del DEL ATAG ATAG - TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr1:42905661_42905664delATAG uc001chj.2 - 4 727_730 c.457_460delCTAT c.(457-462)CTATTCfs p.L153fs ZMYND12_uc010ojt.1_Frame_Shift_Del_p.L43fs NM_032257 NP_115633 Q9H0C1 ZMY12_HUMAN zinc finger, MYND-type containing 12 isoform 1 153_154 intracellular zinc ion binding ovary(1) 1 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TGGGCTTGGAATAGATATTCTTCA 0.426 NA 31 127 --- --- --- --- NA NA NA NA TNN 63923 broad.mit.edu 37 1 175053061 175053072 + Splice_Site DEL TGACATCACTGG TGACATCACTGG - TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr1:175053061_175053072delTGACATCACTGG uc001gkl.1 + 5 1347 c.1234_splice c.e5+1 p.G412_splice TNN_uc010pmx.1_Splice_Site_p.G412_splice NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) AGAGCCGATATGACATCACTGGTAAGAGCCAT 0.542 NA 7 60 --- --- --- --- NA NA NA NA TP53 7157 broad.mit.edu 37 17 7578232 7578232 + Frame_Shift_Del DEL A A - TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr17:7578232delA uc002gim.2 - 6 811 c.617delT c.(616-618)TTGfs p.L206fs TP53_uc002gig.1_Frame_Shift_Del_p.L206fs|TP53_uc002gih.2_Frame_Shift_Del_p.L206fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.L74fs|TP53_uc010cng.1_Frame_Shift_Del_p.L74fs|TP53_uc002gii.1_Frame_Shift_Del_p.L74fs|TP53_uc010cnh.1_Frame_Shift_Del_p.L206fs|TP53_uc010cni.1_Frame_Shift_Del_p.L206fs|TP53_uc002gij.2_Frame_Shift_Del_p.L206fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Del_p.L113fs|TP53_uc002gio.2_Frame_Shift_Del_p.L74fs|TP53_uc010vug.1_Frame_Shift_Del_p.L167fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 206 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). L -> F (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.0?(7)|p.L206*(5)|p.L206fs*41(4)|p.K164_P219del(1)|p.L206F(1)|p.?fs(1)|p.L206L(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(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) TCTGTCATCCAAATACTCCAC 0.547 111 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) 18 36 --- --- --- --- NA NA NA NA OSBPL1A 114876 broad.mit.edu 37 18 21745096 21745097 + Frame_Shift_Ins INS - - T TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr18:21745096_21745097insT uc002kve.2 - 27 2856_2857 c.2682_2683insA c.(2680-2685)AAACGAfs p.K894fs OSBPL1A_uc002kvd.2_Frame_Shift_Ins_p.K381fs|OSBPL1A_uc010xbc.1_Frame_Shift_Ins_p.K512fs NM_080597 NP_542164 Q9BXW6 OSBL1_HUMAN oxysterol-binding protein-like 1A isoform B 894_895 Potential. cholesterol metabolic process|lipid transport|vesicle-mediated transport phospholipid binding ovary(4) 4 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) TCCTCAAGTCGTTTTTTTTCTT 0.46 NA 7 219 --- --- --- --- NA NA NA NA CCDC108 255101 broad.mit.edu 37 2 219895483 219895485 + In_Frame_Del DEL CTT CTT - TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr2:219895483_219895485delCTT uc002vjl.1 - 9 1171_1173 c.1087_1089delAAG c.(1087-1089)AAGdel p.K363del CCDC108_uc010fwa.1_5'Flank|CCDC108_uc010zkp.1_In_Frame_Del_p.K352del|CCDC108_uc010zkq.1_In_Frame_Del_p.K298del NM_194302 NP_919278 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 isoform 1 363 integral to membrane structural molecule activity ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGTACAACAGCTTCTGGAAGCCC 0.64 NA 12 59 --- --- --- --- NA NA NA NA FTSJD2 23070 broad.mit.edu 37 6 37426517 37426527 + Frame_Shift_Del DEL AAGGGCCCTAA AAGGGCCCTAA - TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr6:37426517_37426527delAAGGGCCCTAA uc003ons.2 + 9 1160_1170 c.907_917delAAGGGCCCTAA c.(907-918)AAGGGCCCTAATfs p.K303fs FTSJD2_uc010jwu.2_Frame_Shift_Del_p.K247fs NM_015050 NP_055865 Q8N1G2 MTR1_HUMAN FtsJ methyltransferase domain containing 2 303_306 mRNA capping cytoplasm|nucleus mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 AATGACTTTGAAGGGCCCTAATGACTTCAAG 0.512 NA 10 76 --- --- --- --- NA NA NA NA TMEM168 64418 broad.mit.edu 37 7 112423785 112423786 + Frame_Shift_Ins INS - - A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1c78a20e-150f-4c12-8abe-b941f90e730f 9d1e96e0-810f-4f72-a622-c95907643627 g.chr7:112423785_112423786insA uc003vgn.2 - 2 1487_1488 c.1095_1096insT c.(1093-1098)CTTGCAfs p.L365fs TMEM168_uc010lju.2_Frame_Shift_Ins_p.L365fs|TMEM168_uc011kmr.1_Intron NM_022484 NP_071929 Q9H0V1 TM168_HUMAN transmembrane protein 168 365_366 Helical; (Potential). integral to membrane|transport vesicle ovary(1)|central_nervous_system(1) 2 ATCGCTGTTGCAAGAAGACTAA 0.411 NA 32 166 --- --- --- --- NA NA NA NA