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 CDC20 991 broad.mit.edu 37 1 43825460 43825460 + Missense_Mutation SNP G G C TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr1:43825460G>C uc001cix.2 + 4 496 c.395G>C c.(394-396)CGG>CCG p.R132P CDC20_uc001ciy.2_Missense_Mutation_p.R132P NM_001255 NP_001246 Q12834 CDC20_HUMAN cell division cycle 20 132 R->A: Loss of interaction with MAD2L1. activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle cytosol|nucleoplasm|spindle enzyme binding|protein C-terminus binding 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) AAGATCCTTCGGCTCAGTGGA 0.502 NA 102 164 0 0 0 0 KIAA0467 23334 broad.mit.edu 37 1 43881682 43881682 + Missense_Mutation SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr1:43881682G>A uc009vws.1 + 6 766 c.682G>A c.(682-684)GTC>ATC p.V228I Q5T011 SZT2_HUMAN Homo sapiens mRNA for KIAA0467 protein, partial cds. 228 peroxisome 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GAAGGTAGGCGTCTCCATGGT 0.552 NA 8 26 0 0 0 0 PTPRF 5792 broad.mit.edu 37 1 44044587 44044587 + Silent SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr1:44044587G>A uc001cjr.2 + 7 1015 c.675G>A c.(673-675)GTG>GTA p.V225V PTPRF_uc001cjq.3_Silent_p.V231V|PTPRF_uc001cjs.2_Silent_p.V225V|PTPRF_uc001cjt.3_Silent_p.V225V NM_002840 NP_002831 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 225 Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1) 10 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) ACCTGTATGTGCGAGGTAAGG 0.612 NA 3 39 0 0 0 0 LPPR4 9890 broad.mit.edu 37 1 99771805 99771805 + Missense_Mutation SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr1:99771805G>A uc001dse.2 + 7 1637 c.1531G>A c.(1531-1533)GGA>AGA p.G511R LPPR4_uc010oue.1_Missense_Mutation_p.G453R NM_014839 NP_055654 Q7Z2D5 LPPR4_HUMAN plasticity related gene 1 511 phosphatidate phosphatase activity ovary(3) 3 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) CGCTGTCCCCGGATGTAACAA 0.552 NA 17 384 0 0 0 0 AMIGO1 57463 broad.mit.edu 37 1 110051444 110051444 + Missense_Mutation SNP C C T rs139908524 TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr1:110051444C>T uc001dxx.3 - 2 473 c.91G>A c.(91-93)GTG>ATG p.V31M NM_020703 NP_065754 Q86WK6 AMGO1_HUMAN AMIGO protein precursor 31 LRRNT.|Extracellular (Potential). axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis axon|integral to membrane ovary(1)|breast(1) 2 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227) CAGCTAACCACGGCTCGGCCA 0.627 NA 11 29 0 0 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156950259 156950259 + Silent SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr1:156950259G>A uc001fqo.2 - 4 1283 c.243C>T c.(241-243)GCC>GCT p.A81A ARHGEF11_uc001fqn.2_Silent_p.A81A NM_014784 NP_055599 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 81 PDZ. actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1) 9 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CTTTCACACCGGCCTTCATGG 0.567 NA 5 11 0 0 0 0 ATP1A2 477 broad.mit.edu 37 1 160104995 160104995 + Silent SNP C C T TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr1:160104995C>T uc001fvc.2 + 15 2157 c.2025C>T c.(2023-2025)CTC>CTT p.L675L ATP1A2_uc001fvb.2_Silent_p.L675L|ATP1A2_uc001fvd.2_Silent_p.L411L NM_000702 NP_000693 P50993 AT1A2_HUMAN Na+/K+ -ATPase alpha 2 subunit proprotein 675 Cytoplasmic (Potential). ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity central_nervous_system(3)|ovary(2)|skin(2) 7 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CGGAGCAGCTCGATGAGATCC 0.577 NA 34 59 0 0 0 0 PAPPA2 60676 broad.mit.edu 37 1 176525894 176525894 + Missense_Mutation SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr1:176525894G>A uc001gkz.2 + 2 1600 c.436G>A c.(436-438)GCT>ACT p.A146T PAPPA2_uc001gky.1_Missense_Mutation_p.A146T|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 146 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 AGATGATGACGCTTATCTCGG 0.542 NA 6 209 0 0 0 0 CACNA1E 777 broad.mit.edu 37 1 181745355 181745355 + Missense_Mutation SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr1:181745355G>A uc001gow.2 + 38 5423 c.5258G>A c.(5257-5259)CGA>CAA p.R1753Q CACNA1E_uc009wxs.2_Missense_Mutation_p.R1641Q|CACNA1E_uc001gox.1_Missense_Mutation_p.R979Q|CACNA1E_uc009wxt.2_Missense_Mutation_p.R979Q NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 1753 EF-hand.|By similarity.|Cytoplasmic (Potential). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 GAATATGACCGAGCAGCATGG 0.612 NA 6 168 0 0 0 0 CACNA1S 779 broad.mit.edu 37 1 201046135 201046135 + Silent SNP G G C TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr1:201046135G>C uc001gvv.2 - 12 1967 c.1740C>G c.(1738-1740)CTC>CTG p.L580L NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 580 II.|Helical; Name=S5 of repeat II; (Potential). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TCCCCCCAAAGAGCTGCATGC 0.473 NA 16 145 0 0 0 0 CHI3L1 1116 broad.mit.edu 37 1 203150383 203150383 + Silent SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr1:203150383G>A uc001gzi.2 - 7 789 c.618C>T c.(616-618)TAC>TAT p.Y206Y FMOD_uc010pqi.1_Intron|CHI3L1_uc001gzk.1_Silent_p.Y3Y|CHI3L1_uc001gzj.2_Silent_p.Y206Y|CHI3L1_uc001gzl.3_5'Flank NM_001276 NP_001267 P36222 CH3L1_HUMAN chitinase 3-like 1 precursor 206 Chitooligosaccharide. chitin catabolic process extracellular space|proteinaceous extracellular matrix cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding pancreas(1) 1 CATGAAAATCGTAGGTCATGA 0.458 NA 25 61 0 0 0 0 GREM2 64388 broad.mit.edu 37 1 240656560 240656560 + Missense_Mutation SNP C C G TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr1:240656560C>G uc001hys.2 - 2 496 c.216G>C c.(214-216)TGG>TGC p.W72C NM_022469 NP_071914 Q9H772 GREM2_HUMAN gremlin 2 precursor 72 BMP signaling pathway extracellular space cytokine activity 0 all_cancers(173;0.0196) OV - Ovarian serous cystadenocarcinoma(106;0.0123) GCGTCTTGCACCAGTCACTCT 0.632 NA 12 44 0 0 0 0 RGS7 6000 broad.mit.edu 37 1 240966240 240966240 + Silent SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr1:240966240G>A uc001hyv.2 - 16 1653 c.1323C>T c.(1321-1323)TCC>TCT p.S441S RGS7_uc010pyh.1_Silent_p.S415S|RGS7_uc010pyj.1_Silent_p.S357S|RGS7_uc001hyu.2_Silent_p.S441S|RGS7_uc009xgn.1_Silent_p.S388S|RGS7_uc001hyw.2_Silent_p.S441S|RGS7_uc001hyt.2_Silent_p.S273S NM_002924 NP_002915 P49802 RGS7_HUMAN regulator of G-protein signaling 7 441 RGS. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity ovary(4)|skin(2)|kidney(1) 7 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) GATAGGCACTGGATCTTATAA 0.348 NA 19 189 0 0 0 0 SLC39A12 221074 broad.mit.edu 37 10 18270411 18270411 + Missense_Mutation SNP G G C TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr10:18270411G>C uc001ipo.2 + 6 1368 c.1095G>C c.(1093-1095)GAG>GAC p.E365D SLC39A12_uc001ipn.2_Missense_Mutation_p.E365D|SLC39A12_uc001ipp.2_Missense_Mutation_p.E365D|SLC39A12_uc010qck.1_Missense_Mutation_p.E231D NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), 365 Cytoplasmic (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1)|breast(1) 2 CCACTCTGGAGAGTAAGTTCT 0.393 NA 10 39 0 0 0 0 TET1 80312 broad.mit.edu 37 10 70405419 70405419 + Missense_Mutation SNP C C G TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr10:70405419C>G uc001jok.3 + 4 3438 c.2933C>G c.(2932-2934)TCC>TGC p.S978C NM_030625 NP_085128 Q8NFU7 TET1_HUMAN CXXC finger 6 978 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding ovary(5)|lung(2)|prostate(1)|breast(1) 9 ACTACCCTTTCCAACTCACAT 0.363 NA 17 72 0 0 0 0 PLCE1 51196 broad.mit.edu 37 10 95790919 95790919 + Nonsense_Mutation SNP C C G TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr10:95790919C>G uc001kjk.2 + 2 750 c.116C>G c.(115-117)TCA>TGA p.S39* PLCE1_uc010qnx.1_Nonsense_Mutation_p.S39* NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 39 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity ovary(2)|skin(1) 3 Colorectal(252;0.0458) ATCAATATTTCAAAAGCACAT 0.423 NA 17 96 0 0 0 0 SORCS3 22986 broad.mit.edu 37 10 107012588 107012588 + Missense_Mutation SNP C C A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr10:107012588C>A uc001kyi.1 + 23 3388 c.3161C>A c.(3160-3162)ACT>AAT p.T1054N SORCS3_uc010qqz.1_RNA NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 1054 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GGTCTCCCCACTTCAGCAGAG 0.517 NA 30 69 2.5e-24 3.02e-24 1 0 MUC5B 727897 broad.mit.edu 37 11 1275954 1275954 + Missense_Mutation SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr11:1275954G>A uc009ycr.1 + 57 16645 c.16519G>A c.(16519-16521)GGT>AGT p.G5507S MUC5B_uc001ltb.2_Missense_Mutation_p.G5173S NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 5170 VWFD 4. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GGTGAGCAGCGGTTTCAGCAA 0.607 NA 11 31 0 0 0 0 CARS 833 broad.mit.edu 37 11 3061081 3061081 + Missense_Mutation SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr11:3061081G>A uc001lxh.2 - 4 361 c.287C>T c.(286-288)ACG>ATG p.T96M CARS_uc001lxe.2_Missense_Mutation_p.T86M|CARS_uc001lxf.2_Missense_Mutation_p.T179M|CARS_uc001lxg.2_Missense_Mutation_p.T96M|CARS_uc010qxo.1_Missense_Mutation_p.T179M|CARS_uc010qxp.1_Missense_Mutation_p.T109M|uc001lxi.1_Intron NM_001751 NP_001742 P49589 SYCC_HUMAN cysteinyl-tRNA synthetase isoform b 96 cysteinyl-tRNA aminoacylation cytoplasm|cytosol ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|protein homodimerization activity|tRNA binding|tRNA binding CARS/ALK(5) soft_tissue(5)|ovary(2) 7 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218) L-Cysteine(DB00151) ATCAATATCCGTAATGTTCAT 0.294 NA T ALK ALCL 4 42 0 0 0 0 OR51F2 119694 broad.mit.edu 37 11 4843392 4843392 + Silent SNP C C A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr11:4843392C>A uc010qyn.1 + 1 777 c.777C>A c.(775-777)ATC>ATA p.I259I NM_001004753 NP_001004753 Q8NH61 O51F2_HUMAN olfactory receptor, family 51, subfamily F, 259 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) CATCCCACATCAGTGCTGTTT 0.493 NA 22 72 7.45e-12 8.83e-12 1 0 MRGPRX1 259249 broad.mit.edu 37 11 18955550 18955550 + Missense_Mutation SNP G G T rs150108666 TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr11:18955550G>T uc001mpg.2 - 1 1000 c.782C>A c.(781-783)TCC>TAC p.S261Y NM_147199 NP_671732 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 261 Helical; Name=7; (Potential). acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(2)|central_nervous_system(1) 3 GTTAAGAGCGGACAGGAAAAT 0.463 NA 33 97 1.62e-16 1.94e-16 1 0 PAMR1 25891 broad.mit.edu 37 11 35454125 35454125 + Missense_Mutation SNP A A G TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr11:35454125A>G uc001mwg.2 - 11 1985 c.1942T>C c.(1942-1944)TTC>CTC p.F648L PAMR1_uc001mwf.2_Missense_Mutation_p.F665L|PAMR1_uc010rew.1_Missense_Mutation_p.F537L|PAMR1_uc010rex.1_Missense_Mutation_p.F608L NM_001001991 NP_001001991 Q6UXH9 PAMR1_HUMAN regeneration associated muscle protease isoform 648 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity ovary(2) 2 CTGGCACAGAACATGTTATCA 0.597 NA 15 42 0 0 0 0 LRP4 4038 broad.mit.edu 37 11 46911062 46911062 + Missense_Mutation SNP G G T TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr11:46911062G>T uc001ndn.3 - 16 2261 c.2115C>A c.(2113-2115)AAC>AAA p.N705K NM_002334 NP_002325 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 705 Extracellular (Potential).|EGF-like 3. endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Lung(87;0.159) AGCCTCCGTTGTTGTCCCCAC 0.592 NA OREG0020948 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 118 3.1e-07 3.57e-07 1 0 EFEMP2 30008 broad.mit.edu 37 11 65638052 65638052 + Missense_Mutation SNP A A T TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr11:65638052A>T uc001ofy.3 - 5 639 c.445T>A c.(445-447)TGC>AGC p.C149S EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Missense_Mutation_p.C149S NM_016938 NP_058634 O95967 FBLN4_HUMAN EGF-containing fibulin-like extracellular matrix 149 EGF-like 2; calcium-binding (Potential). blood coagulation basement membrane|membrane calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(159;0.169) GGGCAGGTGCACTGATAGGAG 0.622 NA 13 27 0 0 0 0 HYOU1 10525 broad.mit.edu 37 11 118925377 118925377 + Silent SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr11:118925377G>A uc001puu.2 - 7 700 c.507C>T c.(505-507)ATC>ATT p.I169I HYOU1_uc001put.2_Silent_p.I134I|HYOU1_uc010ryu.1_Silent_p.I189I|HYOU1_uc010ryv.1_Silent_p.I58I|HYOU1_uc001pux.3_Silent_p.I169I|HYOU1_uc010ryw.1_RNA|HYOU1_uc001puw.1_Silent_p.I169I NM_006389 NP_006380 Q9Y4L1 HYOU1_HUMAN hypoxia up-regulated 1 precursor 169 endoplasmic reticulum lumen ATP binding|protein binding 0 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.78e-05) CTGCATCCTTGATGGGCTGCT 0.458 NA 9 26 0 0 0 0 LPAR5 57121 broad.mit.edu 37 12 6729533 6729533 + Silent SNP C C T TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr12:6729533C>T uc009zer.2 - 2 1163 c.882G>A c.(880-882)CCG>CCA p.P294P LPAR5_uc001qps.2_Silent_p.P294P|LPAR5_uc010sff.1_Silent_p.P294P NM_001142961 NP_001136433 Q9H1C0 LPAR5_HUMAN lysophosphatidic acid receptor 5 294 Helical; Name=7; (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(1)|skin(1) 2 AGTACACCAGCGGGTCCAGCA 0.726 NA 12 25 0 0 0 0 CLEC1A 51267 broad.mit.edu 37 12 10233841 10233841 + Missense_Mutation SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr12:10233841G>A uc001qxb.2 - 3 470 c.386C>T c.(385-387)GCT>GTT p.A129V CLEC1A_uc009zhf.2_Missense_Mutation_p.A41V|CLEC1A_uc001qxc.2_Missense_Mutation_p.A41V|CLEC1A_uc001qxd.2_Missense_Mutation_p.A86V|CLEC1A_uc010sgx.1_Intron NM_016511 NP_057595 Q8NC01 CLC1A_HUMAN C-type lectin-like receptor-1 129 Extracellular (Potential). cell surface receptor linked signaling pathway|defense response integral to plasma membrane|intracellular sugar binding|transmembrane receptor activity ovary(1)|central_nervous_system(1) 2 CTTACCTCCAGCTTTGTTATA 0.453 NA 13 264 0 0 0 0 PRB3 5544 broad.mit.edu 37 12 11421068 11421068 + Nonsense_Mutation SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr12:11421068G>A uc001qzs.2 - 3 153 c.115C>T c.(115-117)CGA>TGA p.R39* PRB4_uc001qzf.1_Intron NM_006249 NP_006240 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 39 Pro-rich. extracellular region Gram-negative bacterial cell surface binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(49;0.201) TGTGGGCGTCGTCCTTCTGGC 0.547 NA 22 190 0 0 0 0 PCBP2 5094 broad.mit.edu 37 12 53849269 53849269 + Missense_Mutation SNP C C T TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr12:53849269C>T uc001sdl.3 + 4 468 c.118C>T c.(118-120)CGC>TGC p.R40C PCBP2_uc001sdc.3_Missense_Mutation_p.R40C|PCBP2_uc001sdb.3_Missense_Mutation_p.R40C|PCBP2_uc001sde.3_Missense_Mutation_p.R40C|PCBP2_uc001sdi.3_Missense_Mutation_p.R40C|PCBP2_uc001sdd.3_Missense_Mutation_p.R40C|PCBP2_uc001sdf.3_Missense_Mutation_p.R40C|PCBP2_uc009zna.2_Missense_Mutation_p.R40C|PCBP2_uc010soh.1_Missense_Mutation_p.R40C|PCBP2_uc009zmz.1_Intron NM_001128911 NP_001122383 Q15366 PCBP2_HUMAN poly(rC) binding protein 2 isoform d 40 KH 1. innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus cytosol|nucleoplasm|ribonucleoprotein complex DNA binding|RNA binding|ubiquitin protein ligase binding 0 TAAGAAGATGCGCGAGGAGGT 0.348 NA 4 138 0 0 0 0 NEDD1 121441 broad.mit.edu 37 12 97331091 97331091 + Missense_Mutation SNP C C T TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr12:97331091C>T uc001teu.3 + 9 1376 c.1037C>T c.(1036-1038)GCC>GTC p.A346V NEDD1_uc001tev.3_Missense_Mutation_p.A346V|NEDD1_uc010svc.1_Missense_Mutation_p.A257V|NEDD1_uc001tew.2_Missense_Mutation_p.A353V|NEDD1_uc001tex.2_Missense_Mutation_p.A257V NM_152905 NP_690869 Q8NHV4 NEDD1_HUMAN neural precursor cell expressed, developmentally 346 cell division|G2/M transition of mitotic cell cycle|mitosis cytosol 0 GAAGCACCTGCCACGTCCATT 0.433 NA 104 109 0 0 0 0 SSH1 54434 broad.mit.edu 37 12 109182226 109182226 + Missense_Mutation SNP C C A rs148301801 TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr12:109182226C>A uc001tnm.2 - 15 2775 c.2688G>T c.(2686-2688)AAG>AAT p.K896N SSH1_uc001tnl.2_Missense_Mutation_p.K584N NM_018984 NP_061857 Q8WYL5 SSH1_HUMAN slingshot 1 isoform 1 896 actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(4) 4 GAGGGGGGCTCTTCAGTGAGC 0.597 NA 26 72 3.67e-16 4.39e-16 1 0 RIMBP2 23504 broad.mit.edu 37 12 130927171 130927171 + Silent SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr12:130927171G>A uc001uil.2 - 8 839 c.675C>T c.(673-675)CCC>CCT p.P225P RIMBP2_uc001uim.2_Silent_p.P133P|RIMBP2_uc001uin.1_5'UTR NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 225 SH3 1. cell junction|synapse upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1) 11 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) CGAAGTTGGAGGGCACCAGAC 0.597 NA 34 46 0 0 0 0 INTS6 26512 broad.mit.edu 37 13 51957877 51957877 + Missense_Mutation SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr13:51957877G>A uc001vfk.2 - 8 1509 c.895C>T c.(895-897)CCA>TCA p.P299S INTS6_uc001vfi.2_5'UTR|INTS6_uc001vfj.2_Missense_Mutation_p.P286S|INTS6_uc001vfl.2_Missense_Mutation_p.P121S NM_012141 NP_036273 Q9UL03 INT6_HUMAN integrator complex subunit 6 isoform a 299 snRNA processing actin cytoskeleton|integrator complex protein binding|transmembrane receptor activity ovary(1)|lung(1) 2 Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;7.7e-08) GTACGAGGTGGCTAAAGGGGA 0.353 NA 10 91 0 0 0 0 ATP7B 540 broad.mit.edu 37 13 52548430 52548430 + Missense_Mutation SNP A A G TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr13:52548430A>G uc001vfw.2 - 2 1083 c.926T>C c.(925-927)GTG>GCG p.V309A ATP7B_uc010adv.2_Missense_Mutation_p.V309A|ATP7B_uc001vfx.2_Missense_Mutation_p.V309A|ATP7B_uc001vfy.2_Intron|ATP7B_uc010tgt.1_Missense_Mutation_p.V309A|ATP7B_uc010tgu.1_Missense_Mutation_p.V309A|ATP7B_uc010tgv.1_Missense_Mutation_p.V309A|ATP7B_uc010tgw.1_Missense_Mutation_p.V277A NM_000053 NP_000044 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 309 HMA 3.|Cytoplasmic (Potential). ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) CTGCAGAGCCACTGGGCTGGT 0.488 NA Wilson_disease 23 109 0 0 0 0 OR11H4 390442 broad.mit.edu 37 14 20711912 20711912 + Missense_Mutation SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr14:20711912G>A uc010tld.1 + 1 962 c.962G>A c.(961-963)CGT>CAT p.R321H NM_001004479 NP_001004479 Q8NGC9 O11H4_HUMAN olfactory receptor, family 11, subfamily H, 321 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.000888) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0146) ATGAGAATTCGTCAAAATTCG 0.393 NA 39 80 0 0 0 0 PLEK2 26499 broad.mit.edu 37 14 67864498 67864498 + Nonsense_Mutation SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr14:67864498G>A uc001xjh.1 - 2 140 c.88C>T c.(88-90)CAG>TAG p.Q30* NM_016445 NP_057529 Q9NYT0 PLEK2_HUMAN pleckstrin 2 30 PH 1. actin cytoskeleton organization|intracellular signal transduction cytoplasm|cytoskeleton|lamellipodium membrane ovary(1)|pancreas(1) 2 all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953) AGCGTGTTCTGCCGAAGGATG 0.602 NA 9 24 0 0 0 0 TYRO3 7301 broad.mit.edu 37 15 41859568 41859568 + Missense_Mutation SNP C C A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr15:41859568C>A uc001zof.1 + 7 1018 c.794C>A c.(793-795)GCC>GAC p.A265D NM_006293 NP_006284 Q06418 TYRO3_HUMAN TYRO3 protein tyrosine kinase precursor 265 Fibronectin type-III 1.|Extracellular (Potential). integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity p.A265G(1) ovary(3)|lung(2)|central_nervous_system(1) 6 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) GTGACACAGGCCCCAGGAGGC 0.557 NA 6 121 0.00116845 0.00129583 1 0 SGK269 79834 broad.mit.edu 37 15 77407481 77407481 + Missense_Mutation SNP C C G TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr15:77407481C>G uc002bcm.2 - 6 4566 c.4258G>C c.(4258-4260)GAG>CAG p.E1420Q NM_024776 NP_079052 Q9H792 PEAK1_HUMAN NKF3 kinase family member 1420 Protein kinase. cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding 0 STAD - Stomach adenocarcinoma(199;0.124) TCTTCAGTCTCTTCCATGTCA 0.498 NA 6 160 0 0 0 0 TTC23 64927 broad.mit.edu 37 15 99762036 99762036 + Missense_Mutation SNP C C T TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr15:99762036C>T uc002bur.2 - 5 745 c.214G>A c.(214-216)GTA>ATA p.V72I TTC23_uc002bus.2_Missense_Mutation_p.V72I|TTC23_uc002but.2_Missense_Mutation_p.V72I|TTC23_uc002buu.2_Missense_Mutation_p.V72I|TTC23_uc002buv.2_Missense_Mutation_p.V72I|TTC23_uc002bux.2_Missense_Mutation_p.V72I|TTC23_uc002buw.2_Missense_Mutation_p.V72I|TTC23_uc010boq.2_RNA|TTC23_uc002buy.2_Missense_Mutation_p.V72I|TTC23_uc010bor.2_Missense_Mutation_p.V72I|TTC23_uc002buz.2_Missense_Mutation_p.V72I NM_022905 NP_075056 Q5W5X9 TTC23_HUMAN tetratricopeptide repeat domain 23 72 TPR 1. binding 0 all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215) GTCAGTGCTACGCAACGCACA 0.448 NA 14 48 0 0 0 0 ZG16B 124220 broad.mit.edu 37 16 2880259 2880259 + Missense_Mutation SNP A A C TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr16:2880259A>C uc002cru.2 + 1 87 c.11A>C c.(10-12)CAG>CCG p.Q4P NM_145252 NP_660295 Q96DA0 ZG16B_HUMAN zymogen granule protein 16 homolog B precursor 4 extracellular region sugar binding ovary(1) 1 ATGGGGGCCCAGGGGGCCCAG 0.687 NA 3 23 0 0 0 0 ACSM2B 348158 broad.mit.edu 37 16 20565101 20565101 + Silent SNP A A C TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr16:20565101A>C uc002dhj.3 - 6 948 c.738T>G c.(736-738)GCT>GCG p.A246A ACSM2B_uc002dhk.3_Silent_p.A246A|ACSM2B_uc010bwf.1_Silent_p.A246A NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 246 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 CAGCTTACCCAGCATCCATCT 0.512 NA 27 104 0 0 0 0 EARS2 124454 broad.mit.edu 37 16 23541092 23541092 + Silent SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr16:23541092G>A uc002dlt.3 - 6 1226 c.1194C>T c.(1192-1194)TAC>TAT p.Y398Y EARS2_uc002dlr.3_RNA|EARS2_uc002dls.3_RNA|EARS2_uc002dlu.2_Silent_p.Y398Y NM_001083614 NP_001077083 Q5JPH6 SYEM_HUMAN glutamyl-tRNA synthetase 2 precursor 398 glutamyl-tRNA aminoacylation mitochondrial matrix ATP binding|glutamate-tRNA ligase activity|RNA binding 0 GBM - Glioblastoma multiforme(48;0.0353) L-Glutamic Acid(DB00142) TCCTCTCCACGTAGACTGGGT 0.592 NA 27 181 0 0 0 0 CYLD 1540 broad.mit.edu 37 16 50811826 50811826 + Nonsense_Mutation SNP C C A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr16:50811826C>A uc002egp.1 + 8 1527 c.1112C>A c.(1111-1113)TCA>TAA p.S371* CYLD_uc002egn.1_Nonsense_Mutation_p.S368*|CYLD_uc002ego.2_Nonsense_Mutation_p.S368*|CYLD_uc010cbs.1_Nonsense_Mutation_p.S368*|CYLD_uc002egq.1_Nonsense_Mutation_p.S368*|CYLD_uc002egr.1_Nonsense_Mutation_p.S368*|CYLD_uc002egs.1_Nonsense_Mutation_p.S368* NM_015247 NP_056062 Q9NQC7 CYLD_HUMAN ubiquitin carboxyl-terminal hydrolase CYLD 371 Interaction with TRIP. cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding p.S371*(1) skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3) 28 all_cancers(37;0.0156) CAATCCAAATCAAAAAATACA 0.313 NA Mis|N|F|S cylindroma cylindroma Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial 7 126 8.13e-05 9.12e-05 1 0 GPR56 9289 broad.mit.edu 37 16 57689388 57689388 + Silent SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr16:57689388G>A uc002emb.2 + 7 1138 c.846G>A c.(844-846)GGG>GGA p.G282G GPR56_uc002elz.1_Silent_p.G112G|GPR56_uc002ema.1_Silent_p.G107G|GPR56_uc002emc.2_Silent_p.G282G|GPR56_uc002emf.2_Silent_p.G282G|GPR56_uc010vhs.1_Silent_p.G282G|GPR56_uc002emd.2_Silent_p.G282G|GPR56_uc002eme.2_Silent_p.G282G|GPR56_uc010vht.1_Silent_p.G287G|GPR56_uc002emg.3_Silent_p.G282G|GPR56_uc010vhu.1_Silent_p.G107G NM_005682 NP_005673 Q9Y653 GPR56_HUMAN G protein-coupled receptor 56 isoform a 282 Extracellular (Potential). brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity 0 GCCGGAGCGGGGAGGCTGAGA 0.587 NA 7 40 0 0 0 0 CDH11 1009 broad.mit.edu 37 16 65032522 65032522 + Missense_Mutation SNP G G T TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr16:65032522G>T uc002eoi.2 - 4 900 c.466C>A c.(466-468)CCT>ACT p.P156T CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Missense_Mutation_p.P156T|CDH11_uc010vin.1_Missense_Mutation_p.P30T|CDH11_uc010vio.1_Missense_Mutation_p.P156T NM_001797 NP_001788 P55287 CAD11_HUMAN cadherin 11, type 2 preproprotein 156 Extracellular (Potential).|Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding lung(10)|ovary(3)|skin(1) 14 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) AACTCCGGAGGGTTGTCATTA 0.587 NA T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 9 95 7.48e-07 8.56e-07 1 0 TMCO7 79613 broad.mit.edu 37 16 68912102 68912102 + Missense_Mutation SNP T T C TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr16:68912102T>C uc002ewi.3 + 6 1225 c.1213T>C c.(1213-1215)TCA>CCA p.S405P NM_024562 NP_078838 Q9C0B7 TMCO7_HUMAN transmembrane and coiled-coil domains 7 405 integral to membrane binding 0 Ovarian(137;0.0568) OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198) TATAACTTTGTCAAGAGAACG 0.403 NA 3 45 0 0 0 0 PIK3R5 23533 broad.mit.edu 37 17 8812440 8812440 + Missense_Mutation SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr17:8812440G>A uc002glt.2 - 3 222 c.155C>T c.(154-156)CCG>CTG p.P52L PIK3R5_uc010vuz.1_Missense_Mutation_p.P52L|PIK3R5_uc002glu.3_5'UTR|PIK3R5_uc010coa.1_Missense_Mutation_p.P52L|PIK3R5_uc010cob.1_5'UTR NM_014308 NP_055123 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 52 Heterodimerization (By similarity). platelet activation cytosol|membrane|nucleus breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 GAAGTGGCCCGGGTCCCTGCT 0.592 NA 3 30 0 0 0 0 KRT38 8687 broad.mit.edu 37 17 39593678 39593678 + Missense_Mutation SNP C C T rs148086126 byFrequency TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr17:39593678C>T uc002hwq.1 - 7 1780 c.1357G>A c.(1357-1359)GGA>AGA p.G453R NM_006771 NP_006762 O76015 KRT38_HUMAN keratin 38 453 Tail. intermediate filament structural molecule activity skin(2) 2 Breast(137;0.000496) AATCGGCTTCCGGTGGTGCTG 0.592 NA 8 9 0 0 0 0 BRIP1 83990 broad.mit.edu 37 17 59876570 59876570 + Missense_Mutation SNP T T C TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr17:59876570T>C uc002izk.1 - 9 1372 c.1231A>G c.(1231-1233)ACA>GCA p.T411A NM_032043 NP_114432 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 411 Helicase ATP-binding. DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding ovary(1) 1 TGAACTTCTGTTACACTGTAA 0.398 NA F|N|Mis AML|leukemia|breast Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 37 135 0 0 0 0 SLC25A19 60386 broad.mit.edu 37 17 73282528 73282528 + Missense_Mutation SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr17:73282528G>A uc002jns.3 - 2 1055 c.145C>T c.(145-147)CGC>TGC p.R49C SLC25A19_uc010dge.2_Missense_Mutation_p.R49C|SLC25A19_uc002jnv.3_Missense_Mutation_p.R49C|SLC25A19_uc002jnu.3_Missense_Mutation_p.R49C|SLC25A19_uc002jnw.3_Missense_Mutation_p.R49C|SLC25A19_uc002jnt.3_Missense_Mutation_p.R49C NM_021734 NP_068380 Q9HC21 TPC_HUMAN solute carrier family 25, member 19 49 Solcar 1. integral to membrane|mitochondrial inner membrane binding|deoxynucleotide transmembrane transporter activity ovary(1) 1 all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08) all cancers(21;6.82e-07)|Epithelial(20;6.86e-06) CGAGACAGGCGCTCATGCTGA 0.532 NA 4 118 0 0 0 0 LAMA1 284217 broad.mit.edu 37 18 7080343 7080343 + Missense_Mutation SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr18:7080343G>A uc002knm.2 - 2 269 c.175C>T c.(175-177)CGG>TGG p.R59W LAMA1_uc010wzj.1_5'UTR NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 59 Laminin N-terminal. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CGGACGGGCCGACCTGGCACA 0.547 NA 72 110 0 0 0 0 MC2R 4158 broad.mit.edu 37 18 13885277 13885277 + Missense_Mutation SNP T T A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr18:13885277T>A uc002ksp.1 - 2 418 c.241A>T c.(241-243)AAT>TAT p.N81Y NM_000529 NP_000520 Q01718 ACTHR_HUMAN melanocortin 2 receptor 81 Extracellular (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane corticotropin receptor activity|protein binding ovary(4)|skin(1) 5 Corticotropin(DB01285)|Cosyntropin(DB01284) ATCAGGATATTTTCCAAGATC 0.448 NA 108 43 0 0 0 0 ZNF407 55628 broad.mit.edu 37 18 72343784 72343784 + Missense_Mutation SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr18:72343784G>A uc002llw.2 + 1 866 c.809G>A c.(808-810)CGT>CAT p.R270H ZNF407_uc010xfc.1_Missense_Mutation_p.R270H|ZNF407_uc010dqu.1_Missense_Mutation_p.R270H|ZNF407_uc002llu.2_Missense_Mutation_p.R269H NM_017757 NP_060227 Q9C0G0 ZN407_HUMAN zinc finger protein 407 isoform 1 270 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) ACACATCTCCGTCGTCAGAAT 0.403 NA 11 195 0 0 0 0 ZNF208 7757 broad.mit.edu 37 19 22156525 22156525 + Silent SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr19:22156525G>A uc002nqp.2 - 4 1460 c.1311C>T c.(1309-1311)TCC>TCT p.S437S ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) TAAGGTTTGAGGACCAGTTGA 0.378 NA 11 169 0 0 0 0 BLVRB 645 broad.mit.edu 37 19 40971542 40971542 + Silent SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr19:40971542G>A uc002onw.2 - 1 184 c.54C>T c.(52-54)ACC>ACT p.T18T SPTBN4_uc002onx.2_5'Flank|SPTBN4_uc002ony.2_5'Flank|SPTBN4_uc002onz.2_5'Flank|BLVRB_uc010egw.1_RNA NM_000713 NP_000704 P30043 BLVRB_HUMAN biliverdin reductase B (flavin reductase 18 heme catabolic process cytosol biliverdin reductase activity|binding|flavin reductase activity 0 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) NADH(DB00157)|Riboflavin(DB00140) GCGCCAGGGTGGTGAGCCCGG 0.687 NA 11 26 0 0 0 0 ZNF610 162963 broad.mit.edu 37 19 52857030 52857030 + Missense_Mutation SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr19:52857030G>A uc002pyx.3 + 4 565 c.159G>A c.(157-159)ATG>ATA p.M53I ZNF610_uc002pyy.3_Missense_Mutation_p.M53I|ZNF610_uc002pyz.3_Missense_Mutation_p.M53I|ZNF610_uc002pza.2_Missense_Mutation_p.M53I NM_001161426 NP_001154898 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 isoform a 53 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) GGGACGTGATGTTGGAGAACT 0.512 NA 26 203 0 0 0 0 ZNF71 58491 broad.mit.edu 37 19 57132929 57132929 + Missense_Mutation SNP C C T TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr19:57132929C>T uc002qnm.3 + 3 512 c.274C>T c.(274-276)CGG>TGG p.R92W NM_021216 NP_067039 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 92 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) GGTCCCACCACGGCTGGACGA 0.582 NA 5 82 0 0 0 0 ZNF835 90485 broad.mit.edu 37 19 57175917 57175917 + Missense_Mutation SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr19:57175917G>A uc010ygo.1 - 2 716 c.716C>T c.(715-717)ACG>ATG p.T239M ZNF835_uc010ygn.1_Missense_Mutation_p.T217M NM_001005850 NP_001005850 zinc finger protein 835 pancreas(3)|skin(1) 4 CCGCTCGCCCGTGTGCACGCG 0.711 NA 7 18 0 0 0 0 LRP1B 53353 broad.mit.edu 37 2 141806556 141806556 + Silent SNP A A G TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr2:141806556A>G uc002tvj.1 - 11 2760 c.1788T>C c.(1786-1788)GAT>GAC p.D596D LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 596 Extracellular (Potential).|LDL-receptor class B 5. 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) GTCACTTACCATCTTTCAGGA 0.418 NA TSP Lung(27;0.18) 45 148 0 0 0 0 MBD5 55777 broad.mit.edu 37 2 149226535 149226535 + Silent SNP A A G TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr2:149226535A>G uc002twm.3 + 9 2011 c.1023A>G c.(1021-1023)CCA>CCG p.P341P MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Silent_p.P341P|MBD5_uc002twn.1_5'Flank NM_018328 NP_060798 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 341 Pro-rich. chromosome|nucleus chromatin binding|DNA binding skin(3)|ovary(2) 5 BRCA - Breast invasive adenocarcinoma(221;0.0569) CCCCTCCTCCACCTTCTTGTG 0.428 NA 13 58 0 0 0 0 ITGB6 3694 broad.mit.edu 37 2 161029176 161029176 + Silent SNP A A G TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr2:161029176A>G uc002ubh.2 - 6 841 c.825T>C c.(823-825)CAT>CAC p.H275H ITGB6_uc010fow.1_RNA|ITGB6_uc010fou.2_Silent_p.H275H|ITGB6_uc010zcq.1_Silent_p.H233H|ITGB6_uc010fov.1_Silent_p.H275H NM_000888 NP_000879 P18564 ITB6_HUMAN integrin, beta 6 precursor 275 Extracellular (Potential).|VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity ovary(1)|lung(1)|skin(1) 3 CCATTCCAAAATGAGAATCAG 0.448 NA 10 213 0 0 0 0 COL6A3 1293 broad.mit.edu 37 2 238269816 238269816 + Missense_Mutation SNP C C A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr2:238269816C>A uc002vwl.2 - 16 6443 c.6158G>T c.(6157-6159)GGT>GTT p.G2053V COL6A3_uc002vwo.2_Missense_Mutation_p.G1847V|COL6A3_uc010znj.1_Missense_Mutation_p.G1446V NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 2053 Triple-helical region.|Collagen-like 1. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) TCCAGGAATACCCTGAAACAA 0.478 NA 4 72 2.56e-06 2.92e-06 1 0 ITCH 83737 broad.mit.edu 37 20 33033193 33033193 + Missense_Mutation SNP A A G TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr20:33033193A>G uc010geu.1 + 12 1382 c.1190A>G c.(1189-1191)TAT>TGT p.Y397C ITCH_uc002xak.2_Missense_Mutation_p.Y356C|ITCH_uc010zuj.1_Missense_Mutation_p.Y246C NM_031483 NP_113671 Q96J02 ITCH_HUMAN itchy homolog E3 ubiquitin protein ligase 397 Required for interaction with FYN. apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus cytosol|nucleus|plasma membrane CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity breast(4)|lung(1)|central_nervous_system(1) 6 GTCCGGAACTATGAACAATGG 0.458 NA 85 137 0 0 0 0 COL6A2 1292 broad.mit.edu 37 21 47545457 47545457 + Missense_Mutation SNP C C A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr21:47545457C>A uc002zia.1 + 25 1977 c.1895C>A c.(1894-1896)ACA>AAA p.T632K COL6A2_uc002zhy.1_Missense_Mutation_p.T632K|COL6A2_uc002zhz.1_Missense_Mutation_p.T632K|COL6A2_uc002zib.1_Missense_Mutation_p.T38K|COL6A2_uc002zic.1_5'Flank NM_001849 NP_001840 P12110 CO6A2_HUMAN alpha 2 type VI collagen isoform 2C2 precursor 632 VWFA 2.|Nonhelical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging central_nervous_system(7)|ovary(1) 8 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) ACCAACTTCACACTGGAGAAG 0.617 NA 3 42 0.004672 0.00512357 1 0 EP300 2033 broad.mit.edu 37 22 41553402 41553402 + Missense_Mutation SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr22:41553402G>A uc003azl.3 + 18 3886 c.3491G>A c.(3490-3492)TGT>TAT p.C1164Y NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 1164 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 GGATACTGTTGTGGCAGAAAG 0.393 NA T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome 113 70 0 0 0 0 KLF15 28999 broad.mit.edu 37 3 126070938 126070938 + Silent SNP G G C TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr3:126070938G>C uc011bkk.1 - 2 1010 c.828C>G c.(826-828)TCC>TCG p.S276S NM_014079 NP_054798 Q9UIH9 KLF15_HUMAN Kruppel-like factor 15 276 nucleus DNA binding|zinc ion binding lung(1) 1 GBM - Glioblastoma multiforme(114;0.147) GCACAAACTTGGAGGGCAGGT 0.627 NA 2 9 0 0 0 0 DNAJC13 23317 broad.mit.edu 37 3 132186135 132186135 + Missense_Mutation SNP G G T TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr3:132186135G>T uc003eor.2 + 20 2251 c.2186G>T c.(2185-2187)AGG>ATG p.R729M DNAJC13_uc010htq.1_Missense_Mutation_p.R729M NM_015268 NP_056083 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 729 heat shock protein binding ovary(1)|breast(1) 2 TGGAGGGATAGGATGGGCATT 0.398 NA 12 154 6.4e-05 7.24e-05 1 0 FXR1 8087 broad.mit.edu 37 3 180688116 180688116 + Missense_Mutation SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr3:180688116G>A uc003fkq.2 + 15 1595 c.1573G>A c.(1573-1575)GAT>AAT p.D525N FXR1_uc003fkp.2_Missense_Mutation_p.D440N|FXR1_uc003fkr.2_Missense_Mutation_p.D525N|FXR1_uc011bqj.1_Missense_Mutation_p.D439N|FXR1_uc003fks.2_Missense_Mutation_p.D468N|FXR1_uc011bqk.1_Missense_Mutation_p.D476N|FXR1_uc011bql.1_Missense_Mutation_p.D512N NM_005087 NP_005078 P51114 FXR1_HUMAN fragile X mental retardation-related protein 1 525 apoptosis|cell differentiation|muscle organ development nucleolus|polysome breast(1) 1 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) GACTGAATCTGATACAGCTTC 0.353 NA 12 206 0 0 0 0 LYAR 55646 broad.mit.edu 37 4 4281210 4281210 + Missense_Mutation SNP G G C TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr4:4281210G>C uc011bvy.1 - 6 536 c.393C>G c.(391-393)GAC>GAG p.D131E LYAR_uc011bvx.1_Missense_Mutation_p.D14E|LYAR_uc003ght.2_Missense_Mutation_p.D131E NM_001145725 NP_001139197 Q9NX58 LYAR_HUMAN Ly1 antibody reactive homolog 131 nucleolus metal ion binding|protein binding 0 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TCCACACCTGGTCCAGAATGG 0.338 NA 39 63 0 0 0 0 CCKAR 886 broad.mit.edu 37 4 26491091 26491091 + Missense_Mutation SNP A A G TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr4:26491091A>G uc003gse.1 - 2 281 c.128T>C c.(127-129)GTG>GCG p.V43A NM_000730 NP_000721 P32238 CCKAR_HUMAN cholecystokinin A receptor 43 Helical; Name=1; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity lung(3)|pancreas(1) 4 Breast(46;0.0503) Ceruletide(DB00403) GAGAATCTGCACCGCTGGCTG 0.552 NA 6 58 0 0 0 0 UBA6 55236 broad.mit.edu 37 4 68490887 68490887 + Missense_Mutation SNP A A G TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr4:68490887A>G uc003hdg.3 - 29 2589 c.2537T>C c.(2536-2538)GTG>GCG p.V846A NM_018227 NP_060697 A0AVT1 UBA6_HUMAN ubiquitin-activating enzyme E1-like 2 846 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding 0 AAATGAAAGCACTGCCATCTG 0.368 NA 4 150 0 0 0 0 DNAH5 1767 broad.mit.edu 37 5 13701532 13701532 + Missense_Mutation SNP G G C TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr5:13701532G>C uc003jfd.2 - 77 13394 c.13352C>G c.(13351-13353)TCT>TGT p.S4451C DNAH5_uc003jfc.2_Missense_Mutation_p.S619C NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4451 S -> F (in Ref. 5; BAB15543). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) CAGTGTACTAGAAATCCAAGA 0.373 NA Kartagener_syndrome 5 143 0 0 0 0 PARP8 79668 broad.mit.edu 37 5 50091099 50091099 + Missense_Mutation SNP C C T TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr5:50091099C>T uc003jon.3 + 13 1458 c.1276C>T c.(1276-1278)CAC>TAC p.H426Y PARP8_uc011cpz.1_Missense_Mutation_p.H318Y|PARP8_uc003joo.2_Missense_Mutation_p.H426Y|PARP8_uc003jop.2_Missense_Mutation_p.H426Y NM_024615 NP_078891 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 426 intracellular NAD+ ADP-ribosyltransferase activity lung(3)|large_intestine(1)|ovary(1) 5 Lung NSC(810;0.0305)|Breast(144;0.222) ACTGAAAAATCACAAATTGCT 0.448 NA 24 177 0 0 0 0 FAM169A 26049 broad.mit.edu 37 5 74091962 74091962 + Missense_Mutation SNP C C T TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr5:74091962C>T uc003kdm.2 - 11 1196 c.1153G>A c.(1153-1155)GAA>AAA p.E385K FAM169A_uc010izm.2_Missense_Mutation_p.E325K|FAM169A_uc003kdl.2_Missense_Mutation_p.E203K NM_015566 NP_056381 Q9Y6X4 F169A_HUMAN hypothetical protein LOC26049 385 Asp/Glu-rich. 0 TCAGGTTCTTCTTCCAGGAAT 0.423 NA 13 207 0 0 0 0 DIAPH1 1729 broad.mit.edu 37 5 140960400 140960400 + Silent SNP G G C TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr5:140960400G>C uc003llb.3 - 8 876 c.735C>G c.(733-735)GTC>GTG p.V245V DIAPH1_uc003llc.3_Silent_p.V236V NM_005219 NP_005210 O60610 DIAP1_HUMAN diaphanous 1 isoform 1 245 GBD/FH3. regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane actin binding|receptor binding|Rho GTPase binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCATGGCTCTGACCAGCAGTA 0.463 NA 8 116 0 0 0 0 PCDH12 51294 broad.mit.edu 37 5 141336689 141336689 + Missense_Mutation SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr5:141336689G>A uc003llx.2 - 1 1939 c.728C>T c.(727-729)GCG>GTG p.A243V NM_016580 NP_057664 Q9NPG4 PCD12_HUMAN protocadherin 12 precursor 243 Extracellular (Potential).|Cadherin 2. neuron recognition integral to plasma membrane calcium ion binding ovary(3) 3 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCAGCAAACGCAGGGCTATT 0.512 NA 24 93 0 0 0 0 TTC1 7265 broad.mit.edu 37 5 159476610 159476610 + Missense_Mutation SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr5:159476610G>A uc003lxu.2 + 6 681 c.631G>A c.(631-633)GAC>AAC p.D211N NM_003314 NP_003305 Q99614 TTC1_HUMAN tetratricopeptide repeat domain 1 211 TPR 3. protein folding unfolded protein binding skin(1) 1 Renal(175;0.00196) all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402) AGCCCTGGAAGACTATAAATC 0.333 NA 5 52 0 0 0 0 ATP10B 23120 broad.mit.edu 37 5 160042962 160042962 + Missense_Mutation SNP C C T TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr5:160042962C>T uc003lym.1 - 17 3383 c.2536G>A c.(2536-2538)GAA>AAA p.E846K ATP10B_uc010jit.1_Missense_Mutation_p.E163K|ATP10B_uc003lyn.2_Missense_Mutation_p.E404K NM_025153 NP_079429 O94823 AT10B_HUMAN ATPase, class V, type 10B 846 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AAGTCCTCTTCGCTTACAACC 0.527 NA 17 55 0 0 0 0 ABCC10 89845 broad.mit.edu 37 6 43400422 43400422 + Missense_Mutation SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr6:43400422G>A uc003ouy.1 + 3 919 c.704G>A c.(703-705)CGT>CAT p.R235H ABCC10_uc003ouz.1_Missense_Mutation_p.R192H NM_033450 NP_258261 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C, member 10 235 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(6)|central_nervous_system(1) 7 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) TTGCTGGCCCGTGGGGCCTGT 0.637 NA 11 66 0 0 0 0 RIMS1 22999 broad.mit.edu 37 6 73023290 73023290 + Missense_Mutation SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr6:73023290G>A uc003pga.2 + 28 4122 c.4045G>A c.(4045-4047)GCC>ACC p.A1349T RIMS1_uc011dyb.1_Missense_Mutation_p.A746T|RIMS1_uc003pgc.2_Missense_Mutation_p.A798T|RIMS1_uc010kaq.2_Missense_Mutation_p.A669T|RIMS1_uc011dyc.1_Intron|RIMS1_uc010kar.2_Intron|RIMS1_uc011dyd.1_Intron|RIMS1_uc003pgf.2_Missense_Mutation_p.A358T|RIMS1_uc003pgg.2_Intron|RIMS1_uc003pgi.2_Intron|RIMS1_uc003pgh.2_Intron|RIMS1_uc003pgd.2_Missense_Mutation_p.A415T|RIMS1_uc003pge.2_Missense_Mutation_p.A389T|RIMS1_uc011dye.1_Missense_Mutation_p.A155T|RIMS1_uc011dyf.1_Intron NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 1349 Ser-rich. calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(7)|pancreas(2)|breast(1) 10 all_epithelial(107;0.179)|all_hematologic(105;0.212) TGATGTTTCCGCCATTTCCCG 0.448 NA 11 36 0 0 0 0 SYNE1 23345 broad.mit.edu 37 6 152451872 152451872 + Silent SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr6:152451872G>A uc010kiw.2 - 145 26738 c.26136C>T c.(26134-26136)GTC>GTT p.V8712V SYNE1_uc010kiv.2_Silent_p.V3236V|SYNE1_uc003qos.3_Silent_p.V3236V|SYNE1_uc003qot.3_Silent_p.V8664V|SYNE1_uc003qou.3_Silent_p.V8712V|SYNE1_uc003qop.3_Silent_p.V897V|SYNE1_uc011eez.1_Intron|SYNE1_uc003qoq.3_Intron|SYNE1_uc003qor.3_Intron NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8712 Ser-rich.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GTGGACTGCTGACAGAGGGTC 0.468 NA HNSCC(10;0.0054) 8 34 0 0 0 0 SYNE1 23345 broad.mit.edu 37 6 152728244 152728244 + Missense_Mutation SNP C C G TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr6:152728244C>G uc010kiw.2 - 45 7230 c.6628G>C c.(6628-6630)GAG>CAG p.E2210Q SYNE1_uc003qot.3_Missense_Mutation_p.E2217Q|SYNE1_uc003qou.3_Missense_Mutation_p.E2210Q|SYNE1_uc010kjb.1_Missense_Mutation_p.E2193Q NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2210 Potential.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GACCATCCCTCAATCTCATCT 0.428 NA HNSCC(10;0.0054) 8 127 0 0 0 0 SYNE1 23345 broad.mit.edu 37 6 152746543 152746543 + Missense_Mutation SNP C C G TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr6:152746543C>G uc010kiw.2 - 39 5842 c.5240G>C c.(5239-5241)AGA>ACA p.R1747T SYNE1_uc003qot.3_Missense_Mutation_p.R1754T|SYNE1_uc003qou.3_Missense_Mutation_p.R1747T|SYNE1_uc010kjb.1_Missense_Mutation_p.R1730T NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1747 Spectrin 2.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TGGTAAATCTCTCCATCTCTC 0.318 NA HNSCC(10;0.0054) 5 163 0 0 0 0 C6orf118 168090 broad.mit.edu 37 6 165715113 165715113 + Missense_Mutation SNP T T C TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr6:165715113T>C uc003qum.3 - 2 734 c.698A>G c.(697-699)AAG>AGG p.K233R C6orf118_uc011egi.1_RNA NM_144980 NP_659417 Q5T5N4 CF118_HUMAN hypothetical protein LOC168090 233 0 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) GAAGTCATTCTTCAGGAGATC 0.607 NA 3 101 0 0 0 0 ASZ1 136991 broad.mit.edu 37 7 117007450 117007450 + Missense_Mutation SNP C C A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr7:117007450C>A uc003vjb.2 - 12 1294 c.1231G>T c.(1231-1233)GAT>TAT p.D411Y ASZ1_uc011kno.1_Missense_Mutation_p.D402Y|ASZ1_uc011knp.1_Missense_Mutation_p.D203Y NM_130768 NP_570124 Q8WWH4 ASZ1_HUMAN ankyrin repeat, SAM and basic leucine zipper 411 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body signal transducer activity central_nervous_system(2)|ovary(1) 3 Lung NSC(10;0.00156)|all_lung(10;0.00175) STAD - Stomach adenocarcinoma(10;0.000512) TCACTCAAATCTTCAACATTA 0.303 NA 4 46 0.00116845 0.00129583 1 0 RIMS2 9699 broad.mit.edu 37 8 104897724 104897724 + Silent SNP A A G TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr8:104897724A>G uc003yls.2 + 2 472 c.231A>G c.(229-231)AGA>AGG p.R77R RIMS2_uc003ylp.2_Silent_p.R299R|RIMS2_uc003ylw.2_Silent_p.R107R|RIMS2_uc003ylq.2_Silent_p.R107R|RIMS2_uc003ylr.2_Silent_p.R107R NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 330 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CCAACAGGAGAAGTCATAGGC 0.413 NA HNSCC(12;0.0054) 4 151 0 0 0 0 ASAP1 50807 broad.mit.edu 37 8 131127917 131127917 + Missense_Mutation SNP C C T TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr8:131127917C>T uc003yta.1 - 22 2157 c.2129G>A c.(2128-2130)CGA>CAA p.R710Q ASAP1_uc003ysz.1_Missense_Mutation_p.R521Q|ASAP1_uc011liw.1_Missense_Mutation_p.R703Q NM_018482 NP_060952 Q9ULH1 ASAP1_HUMAN development and differentiation enhancing factor 710 cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding ovary(4) 4 CTCCTCCTGTCGAAGATTCCA 0.413 NA 32 478 0 0 0 0 TAF1L 138474 broad.mit.edu 37 9 32635464 32635464 + Silent SNP C C T TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr9:32635464C>T uc003zrg.1 - 1 204 c.114G>A c.(112-114)GCG>GCA p.A38A uc003zrh.1_Intron NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 38 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) AAAGGATACCCGCTAAAGTAA 0.567 NA 7 153 0 0 0 0 CTSL1 1514 broad.mit.edu 37 9 90343233 90343233 + Silent SNP C C T TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr9:90343233C>T uc004aph.2 + 4 668 c.318C>T c.(316-318)TTC>TTT p.F106F CTSL1_uc004api.2_Silent_p.F106F|CTSL1_uc004apj.2_Silent_p.F51F|CTSL1_uc010mqh.2_Intron|CTSL1_uc004apk.2_Silent_p.F106F|CTSL1_uc004apl.2_Silent_p.F106F NM_001912 NP_001903 P07711 CATL1_HUMAN cathepsin L1 preproprotein 106 macrophage apoptosis|proteolysis extracellular region|lysosome|nucleus cysteine-type endopeptidase activity|histone binding ovary(3) 3 Glucagon recombinant(DB00040) GGAAAGTGTTCCAGGAACCTC 0.458 NA 15 114 0 0 0 0 OR1L4 254973 broad.mit.edu 37 9 125486377 125486377 + Missense_Mutation SNP C C A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr9:125486377C>A uc004bmu.1 + 1 109 c.109C>A c.(109-111)CTA>ATA p.L37I NM_001005235 NP_001005235 Q8NGR5 OR1L4_HUMAN olfactory receptor, family 1, subfamily L, 37 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CATCATGTACCTACTCACTGC 0.498 NA 15 246 2.62e-11 3.09e-11 1 0 OR13H1 347468 broad.mit.edu 37 X 130678201 130678201 + Missense_Mutation SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chrX:130678201G>A uc011muw.1 + 1 154 c.154G>A c.(154-156)GAC>AAC p.D52N IGSF1_uc004ewf.2_Intron NM_001004486 NP_001004486 Q8NG92 O13H1_HUMAN olfactory receptor, family 13, subfamily H, 52 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Acute lymphoblastic leukemia(192;0.000636) TATTCACTTTGACCCCAACCT 0.413 NA 61 177 0 0 0 0 IL9R 3581 broad.mit.edu 37 X 155232635 155232635 + Nonsense_Mutation SNP C C A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chrX:155232635C>A uc004fnv.1 + 2 272 c.93C>A c.(91-93)TGC>TGA p.C31* IL9R_uc010nvn.2_Nonsense_Mutation_p.C10*|IL9R_uc004fnu.1_Nonsense_Mutation_p.C78* NM_002186 NP_002177 Q01113 IL9R_HUMAN interleukin 9 receptor precursor 31 cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CCTGCATCTGCATCTGCACCT 0.597 NA 51 134 6.15e-18 7.4e-18 1 0 ZHX3 23051 broad.mit.edu 37 20 39831282 39831285 + Frame_Shift_Del DEL GTTT GTTT - TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr20:39831282_39831285delGTTT uc002xjs.1 - 3 2650_2653 c.2272_2275delAAAC c.(2272-2277)AAACTGfs p.K758fs ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Frame_Shift_Del_p.K758fs|ZHX3_uc002xjt.1_Frame_Shift_Del_p.K758fs|ZHX3_uc002xju.1_Frame_Shift_Del_p.K758fs|ZHX3_uc002xjv.1_Frame_Shift_Del_p.K758fs|ZHX3_uc002xjw.1_Frame_Shift_Del_p.K758fs|ZHX3_uc010ggg.1_Frame_Shift_Del_p.K758fs NM_015035 NP_055850 Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 758_759 negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 Myeloproliferative disorder(115;0.00425) TGCTCTGCCAGTTTGTTTGACTCA 0.544 NA 24 125 --- --- --- --- NA NA NA NA C5orf25 375484 broad.mit.edu 37 5 175717758 175717759 + Frame_Shift_Del DEL CT CT - TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr5:175717758_175717759delCT uc003mds.3 + 4 1581_1582 c.1174_1175delCT c.(1174-1176)CTCfs p.L392fs C5orf25_uc003mdt.3_Intron|C5orf25_uc003mdr.3_Intron|C5orf25_uc011dfk.1_Frame_Shift_Del_p.L411fs Q8NDZ2 CE025_HUMAN RecName: Full=Uncharacterized protein C5orf25; 392 0 all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Kidney(146;0.119) AGTTCCTTGGCTCTCTGTCATG 0.515 NA 15 110 --- --- --- --- NA NA NA NA STAU2 27067 broad.mit.edu 37 8 74507470 74507471 + Frame_Shift_Ins INS - - T TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c0845927-fc9a-41b2-9431-619952878e18 ca4aefda-8e9e-416d-8d0a-d0be49d62753 g.chr8:74507470_74507471insT uc003xzm.2 - 11 1327_1328 c.1091_1092insA c.(1090-1092)AATfs p.N364fs STAU2_uc011lfg.1_Frame_Shift_Ins_p.N192fs|STAU2_uc003xzn.2_Frame_Shift_Ins_p.N332fs|STAU2_uc011lfh.1_Frame_Shift_Ins_p.N260fs|STAU2_uc003xzo.2_Frame_Shift_Ins_p.N364fs|STAU2_uc003xzp.2_Frame_Shift_Ins_p.N332fs|STAU2_uc011lfi.1_Frame_Shift_Ins_p.N326fs|STAU2_uc003xzq.2_Frame_Shift_Ins_p.N144fs|STAU2_uc010lzk.2_Frame_Shift_Ins_p.N332fs|STAU2_uc010lzl.1_Frame_Shift_Ins_p.N192fs NM_014393 NP_055208 Q9NUL3 STAU2_HUMAN staufen homolog 2 isoform e 364 DRBM 4. transport endoplasmic reticulum|microtubule|nucleolus double-stranded RNA binding 0 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) CTTCTGCAGCATTTTTTTTGGC 0.327 NA 7 254 --- --- --- --- NA NA NA NA