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 ATAD3A 55210 broad.mit.edu 37 1 1455561 1455561 + Silent SNP G G A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr1:1455561G>A uc001afz.1 + 6 793 c.699G>A c.(697-699)GAG>GAA p.E233E ATAD3A_uc001aga.1_Silent_p.E185E|ATAD3A_uc001agb.1_Silent_p.E106E NM_018188 NP_060658 Q9NVI7 ATD3A_HUMAN ATPase family, AAA domain containing 3A 233 Potential. ATP binding|nucleoside-triphosphatase activity|protein binding skin(1) 1 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147) ACAAGAATGAGATGCTGCGAG 0.687 NA 3 24 0 0 0 0 CAMTA1 23261 broad.mit.edu 37 1 7737774 7737774 + Silent SNP C C T TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr1:7737774C>T uc001aoi.2 + 11 3102 c.2895C>T c.(2893-2895)CAC>CAT p.H965H CAMTA1_uc010nzv.1_Silent_p.H52H|CAMTA1_uc001aok.3_5'Flank NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 965 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) CCTCCCAGCACGACTGGCTGT 0.557 NA 19 66 0 0 0 0 C1orf151 440574 broad.mit.edu 37 1 19950057 19950057 + Missense_Mutation SNP C C G TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr1:19950057C>G uc001bci.1 + 3 275 c.202C>G c.(202-204)CTA>GTA p.L68V C1orf151_uc001bch.1_RNA|NBL1_uc009vpl.1_Intron NM_001032363 NP_001027535 Q5TGZ0 CA151_HUMAN chromosome 1 open reading frame 151 protein 68 integral to membrane|mitochondrion central_nervous_system(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000323)|Lung NSC(340;0.000401)|Breast(348;0.00043)|Ovarian(437;0.00374)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.58e-05)|Kidney(64;0.000191)|GBM - Glioblastoma multiforme(114;0.000696)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656) TCCATATCTTCTACATGGAAA 0.388 NA 16 133 0 0 0 0 HTR6 3362 broad.mit.edu 37 1 19992662 19992662 + Missense_Mutation SNP C C T TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr1:19992662C>T uc001bcl.2 + 1 883 c.416C>T c.(415-417)ACG>ATG p.T139M NM_000871 NP_000862 P50406 5HT6R_HUMAN 5-hydroxytryptamine (serotonin) receptor 6 139 Cytoplasmic (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane histamine receptor activity|protein binding ovary(1) 1 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144) CTGCGCATGACGCCCCTGCGT 0.687 NA 8 75 0 0 0 0 MED18 54797 broad.mit.edu 37 1 28657231 28657231 + Missense_Mutation SNP G G A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr1:28657231G>A uc001bpt.3 + 2 303 c.58G>A c.(58-60)GAG>AAG p.E20K MED18_uc009vtg.2_Missense_Mutation_p.E20K NM_017638 NP_060108 Q9BUE0 MED18_HUMAN mediator complex subunit 18 20 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex identical protein binding 0 Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113) OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649) TAACATGATGGAGTACCTGTT 0.483 NA 7 34 0 0 0 0 ZMYM6 9204 broad.mit.edu 37 1 35480710 35480710 + Missense_Mutation SNP G G A rs148778794 TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr1:35480710G>A uc001byh.2 - 5 710 c.482C>T c.(481-483)CCT>CTT p.P161L ZMYM6_uc001byf.1_Missense_Mutation_p.P161L|ZMYM6_uc010oht.1_Missense_Mutation_p.P64L|ZMYM6_uc009vup.2_5'UTR|ZMYM6_uc009vuq.1_Missense_Mutation_p.P161L|ZMYM6_uc009vur.1_5'UTR NM_007167 NP_009098 O95789 ZMYM6_HUMAN zinc finger protein 258 161 multicellular organismal development nucleus DNA binding|zinc ion binding ovary(3) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13) ATCTTTGCTAGGATAGGAATT 0.323 NA 12 38 0 0 0 0 INPP5B 3633 broad.mit.edu 37 1 38352663 38352663 + Missense_Mutation SNP C C T TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr1:38352663C>T uc001ccg.1 - 12 1122 c.1028G>A c.(1027-1029)CGA>CAA p.R343Q INPP5B_uc009vvk.1_Missense_Mutation_p.R284Q|INPP5B_uc001ccf.1_Missense_Mutation_p.R179Q|INPP5B_uc010oij.1_RNA NM_005540 NP_005531 P32019 I5P2_HUMAN inositol polyphosphate-5-phosphatase, 75kDa 423 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to membrane|microtubule cytoskeleton GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding urinary_tract(1) 1 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) CCCAACCAGTCGGATAAGCTT 0.453 NA 8 77 0 0 0 0 ZNF642 339559 broad.mit.edu 37 1 40961662 40961662 + Silent SNP C C T TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr1:40961662C>T uc001cfo.2 + 6 1806 c.1512C>T c.(1510-1512)TTC>TTT p.F504F ZNF642_uc009vwb.2_Silent_p.F504F|ZNF642_uc010ojk.1_Silent_p.F505F NM_198494 NP_940896 Q49AA0 ZN642_HUMAN zinc finger protein 642 504 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;8.81e-19) GAAAAGCCTTCAGCTATAACT 0.388 NA 21 54 0 0 0 0 CYP4A22 284541 broad.mit.edu 37 1 47614372 47614372 + Missense_Mutation SNP C C G TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr1:47614372C>G uc001cqv.1 + 12 1514 c.1463C>G c.(1462-1464)CCC>CGC p.P488R NM_001010969 NP_001010969 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, 488 endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding skin(2)|ovary(1)|breast(1) 4 ACCAGGATCCCCATCCCCATG 0.557 NA 23 148 0 0 0 0 PODN 127435 broad.mit.edu 37 1 53537247 53537247 + Missense_Mutation SNP G G A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr1:53537247G>A uc001cuv.2 + 3 504 c.497G>A c.(496-498)CGG>CAG p.R166Q PODN_uc001cuw.2_Missense_Mutation_p.R147Q|PODN_uc010onr.1_Missense_Mutation_p.R147Q|PODN_uc010ons.1_Intron NM_153703 NP_714914 Q7Z5L7 PODN_HUMAN podocan 118 LRR 1. negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding ovary(1)|pancreas(1) 2 GAGCTCTCCCGGCTGCACCGG 0.637 NA 4 16 0 0 0 0 LRP8 7804 broad.mit.edu 37 1 53736921 53736921 + Silent SNP G G C TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr1:53736921G>C uc001cvi.1 - 7 1246 c.1104C>G c.(1102-1104)CTC>CTG p.L368L LRP8_uc001cvh.1_5'UTR|LRP8_uc001cvk.1_Silent_p.L198L|LRP8_uc001cvj.1_Silent_p.L368L|LRP8_uc001cvl.1_Silent_p.L239L|LRP8_uc001cvm.1_5'Flank NM_004631 NP_004622 Q14114 LRP8_HUMAN low density lipoprotein receptor-related protein 368 EGF-like 1.|Extracellular (Potential). cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis caveola calcium ion binding|very-low-density lipoprotein particle receptor activity 0 TCTGGTCCAGGAGCTGGAAGC 0.577 NA 7 109 0 0 0 0 DNAJC6 9829 broad.mit.edu 37 1 65845131 65845131 + Missense_Mutation SNP A A G TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr1:65845131A>G uc001dcd.1 + 5 583 c.419A>G c.(418-420)AAC>AGC p.N140S DNAJC6_uc001dcc.1_Missense_Mutation_p.N171S|DNAJC6_uc010opc.1_Missense_Mutation_p.N127S|DNAJC6_uc001dce.1_Missense_Mutation_p.N197S NM_014787 NP_055602 O75061 AUXI_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 6 140 Phosphatase tensin-type. cellular membrane organization|post-Golgi vesicle-mediated transport cytosol heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding large_intestine(1)|lung(1)|ovary(1) 3 AGTCTGCACAACCTTTTTGCT 0.453 NA 8 137 0 0 0 0 LHX8 431707 broad.mit.edu 37 1 75622625 75622625 + Silent SNP T T G TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr1:75622625T>G uc001dgo.2 + 9 1522 c.858T>G c.(856-858)CCT>CCG p.P286P LHX8_uc001dgq.2_Silent_p.P225P NM_001001933 NP_001001933 Q68G74 LHX8_HUMAN LIM homeobox 8 286 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 ACGTCAGTCCTAATCACTCAT 0.512 NA 22 114 0 0 0 0 CELSR2 1952 broad.mit.edu 37 1 109795151 109795151 + Missense_Mutation SNP G G A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr1:109795151G>A uc001dxa.3 + 1 2511 c.2450G>A c.(2449-2451)CGA>CAA p.R817Q NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 817 Extracellular (Potential).|Cadherin 7. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CAGTTCCTGCGAGACTCCTAC 0.552 NA 10 79 0 0 0 0 ATP5F1 515 broad.mit.edu 37 1 111996851 111996851 + Missense_Mutation SNP G G C TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr1:111996851G>C uc001ebc.2 + 3 517 c.96G>C c.(94-96)AGG>AGC p.R32S ATP5F1_uc009wgf.1_Missense_Mutation_p.R179S|ATP5F1_uc001ebd.3_Intron NM_001688 NP_001679 P24539 AT5F1_HUMAN ATP synthase, H+ transporting, mitochondrial F0 32 ATP catabolic process|respiratory electron transport chain mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding 0 all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135) AGGCAACAAGGACCTTTCATA 0.418 NA 9 71 0 0 0 0 ITGA10 8515 broad.mit.edu 37 1 145538042 145538042 + Silent SNP C C A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr1:145538042C>A uc001eoa.2 + 22 2797 c.2721C>A c.(2719-2721)GTC>GTA p.V907V NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Silent_p.V776V|ITGA10_uc009wiw.2_Silent_p.V764V|ITGA10_uc010oyw.1_Silent_p.V852V NM_003637 NP_003628 O75578 ITA10_HUMAN integrin, alpha 10 precursor 907 Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1) 8 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TGAGCCAGGTCTTCGTGAAGC 0.527 NA 54 174 1.39e-30 1.55e-30 1 0 TCHH 7062 broad.mit.edu 37 1 152080820 152080820 + Missense_Mutation SNP C C T TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr1:152080820C>T uc001ezp.2 - 2 4873 c.4873G>A c.(4873-4875)GAA>AAA p.E1625K TCHH_uc009wne.1_Missense_Mutation_p.E1625K NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 1625 23 X 26 AA approximate tandem repeats. 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) AGCAGCTGTTCGTCTTCGCGG 0.597 NA 14 99 0 0 0 0 TCHH 7062 broad.mit.edu 37 1 152085245 152085245 + Missense_Mutation SNP C C T TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr1:152085245C>T uc001ezp.2 - 2 448 c.448G>A c.(448-450)GAG>AAG p.E150K TCHH_uc009wne.1_Missense_Mutation_p.E150K NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 150 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) TCCTCTCCCTCAGCTAGCTCC 0.582 NA 41 184 0 0 0 0 SYT2 127833 broad.mit.edu 37 1 202569513 202569513 + Silent SNP G G C TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr1:202569513G>C uc001gye.2 - 7 1084 c.891C>G c.(889-891)CTC>CTG p.L297L SYT2_uc010pqb.1_Silent_p.L297L|SYT2_uc009xaf.2_Silent_p.L127L NM_001136504 NP_001129976 Q8N9I0 SYT2_HUMAN synaptotagmin II 297 Phospholipid binding (By similarity).|C2 2.|Cytoplasmic (Potential). neurotransmitter secretion cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane protein binding|transporter activity ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.169) Botulinum Toxin Type B(DB00042) CCATCTTCTTGAGGTTCTTAG 0.617 NA OREG0014101 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 121 0 0 0 0 FMOD 2331 broad.mit.edu 37 1 203316668 203316668 + Missense_Mutation SNP G G A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr1:203316668G>A uc001gzr.2 - 2 867 c.731C>T c.(730-732)TCA>TTA p.S244L FMOD_uc010pqi.1_RNA NM_002023 NP_002014 Q06828 FMOD_HUMAN fibromodulin precursor 244 LRR 6. transforming growth factor beta receptor complex assembly extracellular space|proteinaceous extracellular matrix ovary(2)|breast(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.171) CTCAAGAGCTGAGGGCAGCCC 0.587 NA 18 162 0 0 0 0 CDC42BPA 8476 broad.mit.edu 37 1 227216783 227216783 + Missense_Mutation SNP C C T TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr1:227216783C>T uc001hqr.2 - 29 4845 c.3902G>A c.(3901-3903)TGT>TAT p.C1301Y CDC42BPA_uc001hqq.2_Missense_Mutation_p.C600Y|CDC42BPA_uc001hqs.2_Missense_Mutation_p.C1220Y|CDC42BPA_uc009xes.2_Missense_Mutation_p.C1273Y|CDC42BPA_uc010pvs.1_Missense_Mutation_p.C1281Y|CDC42BPA_uc001hqp.2_Missense_Mutation_p.C457Y|CDC42BPA_uc001hqt.2_Missense_Mutation_p.C179Y|CDC42BPA_uc001hqu.1_Missense_Mutation_p.C508Y NM_003607 NP_003598 Q5VT25 MRCKA_HUMAN CDC42-binding protein kinase alpha isoform B 1314 CNH. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1) 11 all_cancers(173;0.156)|Prostate(94;0.0792) TACGGTTTGACACCCTTTAGT 0.468 NA 5 51 0 0 0 0 SMYD3 64754 broad.mit.edu 37 1 246498710 246498710 + Missense_Mutation SNP G G A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr1:246498710G>A uc001ibl.2 - 3 390 c.295C>T c.(295-297)CCA>TCA p.P99S SMYD3_uc001ibk.2_Missense_Mutation_p.P40S NM_022743 NP_073580 Q9H7B4 SMYD3_HUMAN SET and MYND domain containing 3 99 cytoplasm|nucleus histone-lysine N-methyltransferase activity|protein binding|zinc ion binding 0 all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242) all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164) OV - Ovarian serous cystadenocarcinoma(106;0.0129) all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537) ACGGAGTCTGGAGGATATCTG 0.408 NA 28 105 0 0 0 0 SEC61A2 55176 broad.mit.edu 37 10 12197928 12197928 + Missense_Mutation SNP G G C TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr10:12197928G>C uc001ile.2 + 7 761 c.614G>C c.(613-615)AGA>ACA p.R205T SEC61A2_uc010qbq.1_Missense_Mutation_p.R183T|SEC61A2_uc001ilf.3_RNA|SEC61A2_uc001ilh.3_RNA|SEC61A2_uc001ilg.3_Missense_Mutation_p.R205T NM_018144 NP_060614 Q9H9S3 S61A2_HUMAN Sec61 alpha form 2 isoform a 205 Lumenal (Potential). endoplasmic reticulum membrane|integral to membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity ovary(1) 1 Renal(717;0.228) AACACTGGCAGAGGTACATCG 0.522 NA 15 83 0 0 0 0 TYSND1 219743 broad.mit.edu 37 10 71902546 71902546 + Nonsense_Mutation SNP G G C TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr10:71902546G>C uc001jqr.2 - 3 1515 c.1361C>G c.(1360-1362)TCA>TGA p.S454* TYSND1_uc001jqq.2_RNA|TYSND1_uc001jqs.2_Intron|TYSND1_uc001jqt.2_Intron NM_173555 NP_775826 Q2T9J0 TYSD1_HUMAN trypsin domain containing 1 isoform a 454 Serine protease. proteolysis peroxisome serine-type endopeptidase activity large_intestine(1) 1 AAGGATGCCTGAGGTCACCGA 0.642 NA 5 32 0 0 0 0 ZNF518A 9849 broad.mit.edu 37 10 97920007 97920007 + Missense_Mutation SNP G G A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr10:97920007G>A uc001klp.2 + 6 4785 c.3928G>A c.(3928-3930)GAA>AAA p.E1310K ZNF518A_uc001klo.1_Missense_Mutation_p.E780K|ZNF518A_uc001klq.2_Missense_Mutation_p.E1310K|ZNF518A_uc001klr.2_Missense_Mutation_p.E1310K NM_014803 NP_055618 Q6AHZ1 Z518A_HUMAN zinc finger protein 518 1310 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) AGATGTCCGTGAAACATTTGG 0.388 NA 5 48 0 0 0 0 ZNF214 7761 broad.mit.edu 37 11 7022446 7022446 + Missense_Mutation SNP C C G TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr11:7022446C>G uc001mfa.2 - 3 771 c.468G>C c.(466-468)ATG>ATC p.M156I ZNF214_uc010ray.1_Missense_Mutation_p.M156I|ZNF214_uc009yfh.1_Missense_Mutation_p.M156I NM_013249 NP_037381 Q9UL59 ZN214_HUMAN zinc finger protein 214 156 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081) GTGAACCACTCATGTAGATTT 0.383 NA 35 124 0 0 0 0 TUB 7275 broad.mit.edu 37 11 8118955 8118955 + Missense_Mutation SNP C C T TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr11:8118955C>T uc001mga.2 + 7 1017 c.868C>T c.(868-870)CGT>TGT p.R290C TUB_uc010rbk.1_Missense_Mutation_p.R296C|TUB_uc001mfy.2_Missense_Mutation_p.R345C NM_177972 NP_813977 P50607 TUB_HUMAN tubby isoform b 290 phagocytosis|positive regulation of phagocytosis|response to stimulus cytoplasm|extracellular region|nucleus|plasma membrane ovary(1) 1 all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17) Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184) GCACCTGGACCGTGAGGATGG 0.542 NA 11 92 0 0 0 0 LDHA 3939 broad.mit.edu 37 11 18422455 18422455 + Missense_Mutation SNP C C T TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr11:18422455C>T uc001mok.3 + 4 588 c.316C>T c.(316-318)CGT>TGT p.R106C LDHA_uc010rdc.1_Intron|LDHA_uc009yhn.2_Missense_Mutation_p.R106C|LDHA_uc009yho.2_5'UTR|LDHA_uc001mol.3_Missense_Mutation_p.R106C|LDHA_uc010rdd.1_Missense_Mutation_p.R135C NM_005566 NP_005557 P00338 LDHA_HUMAN lactate dehydrogenase A isoform 1 106 Substrate. glycolysis|pyruvate metabolic process cytosol L-lactate dehydrogenase activity|protein binding central_nervous_system(3) 3 NADH(DB00157) GGGAGAAAGCCGTCTTAATTT 0.413 NA 4 52 0 0 0 0 DGKZ 8525 broad.mit.edu 37 11 46389294 46389294 + Missense_Mutation SNP G G A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr11:46389294G>A uc001ncn.1 + 4 1055 c.930G>A c.(928-930)ATG>ATA p.M310I DGKZ_uc001nch.1_Missense_Mutation_p.M138I|DGKZ_uc010rgq.1_Missense_Mutation_p.M87I|DGKZ_uc001ncj.1_Missense_Mutation_p.M87I|DGKZ_uc010rgr.1_Missense_Mutation_p.M86I|DGKZ_uc001nck.1_5'UTR|DGKZ_uc001ncl.2_Missense_Mutation_p.M121I|DGKZ_uc001ncm.2_Missense_Mutation_p.M121I|DGKZ_uc009yky.1_Missense_Mutation_p.M121I|DGKZ_uc010rgs.1_Missense_Mutation_p.M121I|DGKZ_uc001nci.1_Missense_Mutation_p.M87I NM_001105540 NP_001099010 Q13574 DGKZ_HUMAN diacylglycerol kinase zeta isoform 4 310 Phorbol-ester/DAG-type 1. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation cytoplasm|lamellipodium|nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding pancreas(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141) TAGCCAGGATGCTGGTGAGTG 0.642 NA OREG0020942 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 18 0 0 0 0 DGKZ 8525 broad.mit.edu 37 11 46400012 46400012 + Nonsense_Mutation SNP G G T TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr11:46400012G>T uc001ncn.1 + 28 3069 c.2944G>T c.(2944-2946)GAG>TAG p.E982* DGKZ_uc001nch.1_Nonsense_Mutation_p.E810*|DGKZ_uc010rgq.1_Nonsense_Mutation_p.E737*|DGKZ_uc001ncj.1_Nonsense_Mutation_p.E760*|DGKZ_uc010rgr.1_Nonsense_Mutation_p.E759*|DGKZ_uc001nck.1_Nonsense_Mutation_p.E572*|DGKZ_uc001ncl.2_Nonsense_Mutation_p.E794*|DGKZ_uc001ncm.2_Nonsense_Mutation_p.E793*|DGKZ_uc009yky.1_Nonsense_Mutation_p.E794*|DGKZ_uc010rgs.1_Nonsense_Mutation_p.E771*|MDK_uc009ykz.1_5'Flank|MDK_uc001nco.2_5'Flank NM_001105540 NP_001099010 Q13574 DGKZ_HUMAN diacylglycerol kinase zeta isoform 4 982 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation cytoplasm|lamellipodium|nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding pancreas(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141) TGCAGGTGAAGAGCTGATTGA 0.622 NA 9 59 3.07e-06 3.32e-06 1 0 DDB2 1643 broad.mit.edu 37 11 47256845 47256845 + Missense_Mutation SNP G G A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr11:47256845G>A uc001neb.2 + 7 1100 c.905G>A c.(904-906)CGG>CAG p.R302Q DDB2_uc001nec.2_RNA|DDB2_uc009yli.1_Missense_Mutation_p.R238Q|DDB2_uc001ned.2_RNA|DDB2_uc001nee.2_Intron|DDB2_uc001nef.2_Intron|DDB2_uc001neg.2_Missense_Mutation_p.R161Q|DDB2_uc001neh.2_RNA NM_000107 NP_000098 Q92466 DDB2_HUMAN damage-specific DNA binding protein 2 302 WD 4. nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV nucleoplasm|protein complex damaged DNA binding|protein binding kidney(2)|ovary(1) 3 GATGGAGCCCGGCTCCTGACC 0.612 NA Mis|N skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 10 131 0 0 0 0 PPP2R5B 5526 broad.mit.edu 37 11 64698016 64698016 + Silent SNP G G A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr11:64698016G>A uc001oby.2 + 8 1431 c.846G>A c.(844-846)CTG>CTA p.L282L PPP2R5B_uc001obz.2_Silent_p.L282L NM_006244 NP_006235 Q15173 2A5B_HUMAN beta isoform of regulatory subunit B56, protein 282 signal transduction cytoplasm|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity ovary(2) 2 TTCGCGTCCTGATCCCCCTGC 0.612 NA 7 77 0 0 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73067756 73067756 + Silent SNP C C G TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr11:73067756C>G uc001otu.2 + 7 3864 c.3843C>G c.(3841-3843)CTC>CTG p.L1281L NM_014786 NP_055601 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1281 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity 0 TCCCACAGCTCCAGGCCCCTC 0.572 NA 4 60 0 0 0 0 OR8B4 283162 broad.mit.edu 37 11 124294096 124294096 + Missense_Mutation SNP G G C TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr11:124294096G>C uc010sak.1 - 1 672 c.672C>G c.(670-672)ATC>ATG p.I224M NM_001005196 NP_001005196 Q96RC9 OR8B4_HUMAN olfactory receptor, family 8, subfamily B, 224 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) GAATACAGAGGATGTTGGAGA 0.458 NA 4 38 0 0 0 0 IGSF9B 22997 broad.mit.edu 37 11 133789939 133789939 + Silent SNP G G A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr11:133789939G>A uc001qgx.3 - 18 3912 c.3681C>T c.(3679-3681)GGC>GGT p.G1227G NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 1227 Pro-rich.|Cytoplasmic (Potential). integral to membrane|plasma membrane 0 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) GCTGCAGGAGGCCCGGGCGAG 0.687 NA 10 36 0 0 0 0 NINJ2 4815 broad.mit.edu 37 12 675230 675230 + Silent SNP G G A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr12:675230G>A uc001qil.2 - 2 377 c.286C>T c.(286-288)CTG>TTG p.L96L NINJ2_uc010sdr.1_Silent_p.L14L|NINJ2_uc010sds.1_Silent_p.L96L NM_016533 NP_057617 Q9NZG7 NINJ2_HUMAN ninjurin 2 50 Extracellular (Potential). nervous system development|neuron cell-cell adhesion|tissue regeneration integral to plasma membrane ovary(2) 2 all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185) OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508) ACCGCCTTCAGCCGCATGGCG 0.612 NA 12 43 0 0 0 0 CASC1 55259 broad.mit.edu 37 12 25272139 25272139 + Missense_Mutation SNP C C G TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr12:25272139C>G uc001rgl.2 - 11 1400 c.1318G>C c.(1318-1320)GAG>CAG p.E440Q CASC1_uc001rgk.2_Missense_Mutation_p.E446Q|CASC1_uc001rgm.3_Missense_Mutation_p.E504Q|CASC1_uc001rgj.2_Missense_Mutation_p.E400Q|CASC1_uc010sje.1_Missense_Mutation_p.E381Q|CASC1_uc010sjf.1_Missense_Mutation_p.E328Q|CASC1_uc010sjg.1_Missense_Mutation_p.E440Q NM_001082973 NP_001076442 Q6TDU7 CASC1_HUMAN cancer susceptibility candidate 1 isoform b 440 ovary(2) 2 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11) OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13) TCATGAACCTCAAGTGTGACC 0.373 NA 5 68 0 0 0 0 LRRK2 120892 broad.mit.edu 37 12 40745387 40745387 + Missense_Mutation SNP G G A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr12:40745387G>A uc001rmg.3 + 44 6549 c.6428G>A c.(6427-6429)CGC>CAC p.R2143H LRRK2_uc009zjw.2_Missense_Mutation_p.R981H|LRRK2_uc001rmi.2_Missense_Mutation_p.R976H NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 2143 R -> H (in PARK8). activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) CTGACGAGACGCATTTTATTA 0.398 NA 13 53 0 0 0 0 KRT4 3851 broad.mit.edu 37 12 53207700 53207700 + Missense_Mutation SNP C C T TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr12:53207700C>T uc001saz.2 - 1 636 c.365G>A c.(364-366)GGC>GAC p.G122D NM_002272 NP_002263 B4DRS2 B4DRS2_HUMAN keratin 4 48 keratin filament structural molecule activity ovary(4)|skin(2) 6 GCTTCTGCTGCCAAATCCCCC 0.587 NA 35 103 0 0 0 0 USP15 9958 broad.mit.edu 37 12 62715321 62715321 + Missense_Mutation SNP G G C TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr12:62715321G>C uc001src.1 + 5 561 c.552G>C c.(550-552)ATG>ATC p.M184I USP15_uc001srb.1_Missense_Mutation_p.M184I|USP15_uc001sra.2_Missense_Mutation_p.M184I NM_006313 NP_006304 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 184 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) ACAAATACATGAGTAACACAT 0.328 NA 6 42 0 0 0 0 MLXIP 22877 broad.mit.edu 37 12 122622100 122622100 + Nonsense_Mutation SNP C C G TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr12:122622100C>G uc001ubq.2 + 12 2117 c.2117C>G c.(2116-2118)TCA>TGA p.S706* MLXIP_uc001ubt.2_Nonsense_Mutation_p.S313* NM_014938 NP_055753 Q9HAP2 MLXIP_HUMAN MLX interacting protein 706 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial outer membrane|nucleus DNA binding ovary(2) 2 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) AACAACTGCTCAGGGAAATCC 0.567 NA 13 136 0 0 0 0 GPR109B 8843 broad.mit.edu 37 12 123200775 123200775 + Missense_Mutation SNP C C G TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr12:123200775C>G uc001ucy.3 - 1 665 c.510G>C c.(508-510)CAG>CAC p.Q170H GPR81_uc001ucw.1_Intron NM_006018 NP_006009 P49019 HCAR3_HUMAN G protein-coupled receptor 109B 170 Extracellular (Potential). integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(1)|skin(1) 2 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196) Mepenzolate(DB04843)|Niacin(DB00627) CAGTGCCATTCTGGATCAGCA 0.522 NA 12 70 0 0 0 0 RNF17 56163 broad.mit.edu 37 13 25376549 25376549 + Missense_Mutation SNP G G C TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr13:25376549G>C uc001upr.2 + 14 1830 c.1789G>C c.(1789-1791)GAA>CAA p.E597Q RNF17_uc010tdd.1_Missense_Mutation_p.E456Q|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.E597Q|RNF17_uc001ups.2_Missense_Mutation_p.E536Q NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN ring finger protein 17 597 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding ovary(1)|skin(1) 2 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) AGCTAAAGTGGAATTTTTGAA 0.333 NA 6 65 0 0 0 0 FREM2 341640 broad.mit.edu 37 13 39266631 39266631 + Missense_Mutation SNP A A T TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr13:39266631A>T uc001uwv.2 + 1 5459 c.5150A>T c.(5149-5151)CAC>CTC p.H1717L NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 1717 Extracellular (Potential).|CSPG 12. cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) AAAGGCAACCACAGCATCACT 0.428 NA 8 91 0 0 0 0 FREM2 341640 broad.mit.edu 37 13 39430346 39430346 + Missense_Mutation SNP T T A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr13:39430346T>A uc001uwv.2 + 12 7318 c.7009T>A c.(7009-7011)TTC>ATC p.F2337I FREM2_uc001uww.2_Missense_Mutation_p.F423I NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 2337 Extracellular (Potential).|Calx-beta 5. cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) GAGAGAGGCCTTCACTGTTCA 0.403 NA 7 66 0 0 0 0 FOXO1 2308 broad.mit.edu 37 13 41134162 41134162 + Missense_Mutation SNP C C T TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr13:41134162C>T uc001uxl.3 - 2 1851 c.1466G>A c.(1465-1467)AGC>AAC p.S489N FOXO1_uc010acc.1_Missense_Mutation_p.S304N NM_002015 NP_002006 Q12778 FOXO1_HUMAN forkhead box O1 489 anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding PAX3/FOXO1(749)|PAX7/FOXO1(197) soft_tissue(946)|lung(1)|central_nervous_system(1) 948 Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815) CAGAACCCGGCTGTTGGGCTG 0.522 NA 12 79 0 0 0 0 ANKRD10 55608 broad.mit.edu 37 13 111558412 111558412 + Silent SNP G G A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr13:111558412G>A uc001vrn.2 - 3 558 c.423C>T c.(421-423)ATC>ATT p.I141I ANKRD10_uc001vro.1_Silent_p.I141I|ANKRD10_uc001vrp.1_Silent_p.I141I NM_017664 NP_060134 Q9NXR5 ANR10_HUMAN ankyrin repeat domain 10 141 ANK 4. central_nervous_system(1) 1 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208) CAAGGGCACTGATGCATTCTA 0.433 NA 3 14 0 0 0 0 TINF2 26277 broad.mit.edu 37 14 24711353 24711353 + Silent SNP C C T TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr14:24711353C>T uc001woa.3 - 1 528 c.186G>A c.(184-186)AAG>AAA p.K62K TINF2_uc010alm.2_5'Flank|TINF2_uc001wob.3_Silent_p.K62K|TINF2_uc010tof.1_Silent_p.K62K|TINF2_uc001woc.3_Silent_p.K62K NM_001099274 NP_001092744 Q9BSI4 TINF2_HUMAN TERF1 (TRF1)-interacting nuclear factor 2 62 negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter protein binding|protein binding|telomeric DNA binding 0 GBM - Glioblastoma multiforme(265;0.0185) ATACCTTGGCCTTTAGGCCCA 0.562 NA Ataxia_Pancytopenia_syndrome|Congenital_Dyskeratosis OREG0022621 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 88 0 0 0 0 FOXG1 2290 broad.mit.edu 37 14 29237058 29237058 + Missense_Mutation SNP G G C TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr14:29237058G>C uc001wqe.2 + 1 772 c.573G>C c.(571-573)ATG>ATC p.M191I NM_005249 NP_005240 P55316 FOXG1_HUMAN forkhead box G1 191 Fork-head. axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(2)|lung(2) 4 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) CGCTCATCATGATGGCCATCC 0.418 NA 4 40 0 0 0 0 SMOC1 64093 broad.mit.edu 37 14 70418890 70418890 + Silent SNP C C G TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr14:70418890C>G uc001xls.1 + 2 388 c.135C>G c.(133-135)CTC>CTG p.L45L SMOC1_uc001xlt.1_Silent_p.L45L NM_022137 NP_071420 Q9H4F8 SMOC1_HUMAN secreted modular calcium-binding protein 1 45 Kazal-like. cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction basement membrane calcium ion binding upper_aerodigestive_tract(1)|pancreas(1) 2 all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028) AGTGCAACCTCCACTGCTCCA 0.522 NA 26 94 0 0 0 0 ZFYVE1 53349 broad.mit.edu 37 14 73448574 73448574 + Silent SNP G G A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr14:73448574G>A uc001xnm.2 - 5 1873 c.1233C>T c.(1231-1233)ATC>ATT p.I411I ZFYVE1_uc001xnl.2_5'UTR|ZFYVE1_uc010arj.2_Silent_p.I411I NM_021260 NP_067083 Q9HBF4 ZFYV1_HUMAN zinc finger, FYVE domain containing 1 isoform 1 411 endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm 1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding skin(1) 1 all_lung(585;1.33e-09) OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349) GGTCATCGGGGATCTCACCGC 0.577 NA 5 79 0 0 0 0 C14orf45 80127 broad.mit.edu 37 14 74523883 74523883 + Silent SNP C C T TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr14:74523883C>T uc010tup.1 + 11 1623 c.1500C>T c.(1498-1500)ACC>ACT p.T500T C14orf45_uc001xpm.1_RNA NM_025057 NP_079333 Q8ND07 CN045_HUMAN hypothetical protein LOC80127 500 0 BRCA - Breast invasive adenocarcinoma(234;0.00351) TCTTCATCACCCAGCAAATTG 0.393 NA 15 81 0 0 0 0 TRIP11 9321 broad.mit.edu 37 14 92471271 92471271 + Missense_Mutation SNP C C T TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr14:92471271C>T uc001xzy.2 - 11 3837 c.3049G>A c.(3049-3051)GAA>AAA p.E1017K TRIP11_uc010auf.1_Missense_Mutation_p.E753K NM_004239 NP_004230 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1017 Potential. transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1) 13 COAD - Colon adenocarcinoma(157;0.223) CTTTCCGTTTCAGCTTTAGAT 0.303 NA T PDGFRB AML 6 63 0 0 0 0 DICER1 23405 broad.mit.edu 37 14 95562276 95562276 + Missense_Mutation SNP G G A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr14:95562276G>A uc001ydw.2 - 24 5163 c.4981C>T c.(4981-4983)CAC>TAC p.H1661Y DICER1_uc010avh.1_Missense_Mutation_p.H559Y|DICER1_uc001ydv.2_Missense_Mutation_p.H1651Y|DICER1_uc001ydx.2_Missense_Mutation_p.H1661Y|DICER1_uc001ydy.1_Missense_Mutation_p.H513Y NM_030621 NP_085124 Q9UPY3 DICER_HUMAN dicer1 1661 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) GATATAAGGTGATTCAGTGTT 0.378 NA Mis F|N pleuropulmonary blastoma DICER_1_syndrome_|Familial_Multinodular_Goiter_ 20 126 0 0 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102508999 102508999 + Missense_Mutation SNP C C T TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr14:102508999C>T uc001yks.2 + 69 12591 c.12427C>T c.(12427-12429)CGC>TGC p.R4143C NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 4143 AAA 6 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 CCGTGCGGGCCGCATCTTTGT 0.582 NA 7 63 0 0 0 0 AHNAK2 113146 broad.mit.edu 37 14 105412495 105412495 + Missense_Mutation SNP G G A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr14:105412495G>A uc010axc.1 - 7 9413 c.9293C>T c.(9292-9294)ACG>ATG p.T3098M AHNAK2_uc001ypx.2_Missense_Mutation_p.T2998M NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3098 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GTCGGGGGCCGTCACGTCCGT 0.627 NA 39 236 0 0 0 0 PLA2G4F 255189 broad.mit.edu 37 15 42442333 42442333 + Missense_Mutation SNP C C G TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr15:42442333C>G uc001zoz.2 - 10 955 c.892G>C c.(892-894)GAG>CAG p.E298Q PLA2G4F_uc001zoy.2_5'Flank|PLA2G4F_uc010bcr.2_Missense_Mutation_p.E49Q|PLA2G4F_uc001zpa.2_Missense_Mutation_p.E49Q|PLA2G4F_uc010bcs.2_Missense_Mutation_p.E85Q NM_213600 NP_998765 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 298 phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity ovary(4) 4 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) AGAGCCACCTCCTGGCCCTGA 0.617 NA 3 37 0 0 0 0 TP53BP1 7158 broad.mit.edu 37 15 43730581 43730581 + Missense_Mutation SNP G G C TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr15:43730581G>C uc001zrs.2 - 16 3265 c.3117C>G c.(3115-3117)ATC>ATG p.I1039M TP53BP1_uc010udp.1_Missense_Mutation_p.I1039M|TP53BP1_uc001zrq.3_Missense_Mutation_p.I1044M|TP53BP1_uc001zrr.3_Missense_Mutation_p.I1044M|TP53BP1_uc010udq.1_Missense_Mutation_p.I1044M NM_005657 NP_005648 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 isoform 3 1039 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1) 7 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) TGGCTTCACAGATACAGCTCA 0.398 NA Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes 15 71 0 0 0 0 NEO1 4756 broad.mit.edu 37 15 73581580 73581580 + Splice_Site SNP G G A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr15:73581580G>A uc002avm.3 + 25 3884 c.3742_splice c.e25+1 p.P1248_splice NEO1_uc010ukx.1_Splice_Site_p.P1237_splice|NEO1_uc010uky.1_Splice_Site_p.Q1248_splice|NEO1_uc010ukz.1_Splice_Site_p.P661_splice|NEO1_uc002avn.3_Splice_Site_p.P886_splice NM_002499 NP_002490 Q92859 NEO1_HUMAN neogenin homolog 1 precursor axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus pancreas(1) 1 CCACCCCAGCGTAAGTAGAAG 0.458 NA 4 27 0 0 0 0 SYNM 23336 broad.mit.edu 37 15 99672808 99672808 + Missense_Mutation SNP G G A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr15:99672808G>A uc002bup.2 + 6 4363 c.4243G>A c.(4243-4245)GAA>AAA p.E1415K SYNM_uc002buo.2_Intron|SYNM_uc002buq.2_Intron NM_145728 NP_663780 O15061 SYNEM_HUMAN desmuslin isoform A 1415 Tail.|Interaction with DMD and UTRN.|Interaction with TLN1 and VCL. intermediate filament cytoskeleton organization adherens junction|costamere|intermediate filament|neurofilament cytoskeleton intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding ovary(3)|central_nervous_system(1) 4 GGAAACCTCTGAACACATTGC 0.527 NA 29 249 0 0 0 0 PRSS36 146547 broad.mit.edu 37 16 31151714 31151714 + Silent SNP G G A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr16:31151714G>A uc002ebd.2 - 14 2249 c.2190C>T c.(2188-2190)TCC>TCT p.S730S PRSS36_uc010vff.1_Silent_p.S505S|PRSS36_uc010vfg.1_Silent_p.S725S|PRSS36_uc010vfh.1_Intron NM_173502 NP_775773 Q5K4E3 POLS2_HUMAN protease, serine, 36 precursor 730 Peptidase S1 3. proteolysis cytoplasm|proteinaceous extracellular matrix serine-type endopeptidase activity ovary(1) 1 GTGTCAAGATGGAGACAGCAG 0.592 NA 6 63 0 0 0 0 PYDC1 260434 broad.mit.edu 37 16 31228221 31228221 + Silent SNP C C T TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr16:31228221C>T uc002ebo.2 - 1 178 c.129G>A c.(127-129)GCG>GCA p.A43A TRIM72_uc002ebn.1_Intron NM_152901 NP_690865 Q8WXC3 PYDC1_HUMAN pyrin domain containing 1 43 DAPIN. innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|positive regulation of interleukin-1 beta secretion|proteolysis|tumor necrosis factor-mediated signaling pathway IkappaB kinase complex|nucleus cysteine-type endopeptidase activity|protein binding 0 GCTGCCCGAGCGCGCCCCGCG 0.647 NA 5 64 0 0 0 0 NKD1 85407 broad.mit.edu 37 16 50667326 50667326 + Silent SNP C C A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr16:50667326C>A uc002egg.1 + 10 1271 c.1047C>A c.(1045-1047)CCC>CCA p.P349P NM_033119 NP_149110 Q969G9 NKD1_HUMAN naked cuticle homolog 1 349 Wnt receptor signaling pathway cytoplasm|plasma membrane calcium ion binding|protein binding 0 all_cancers(37;0.229) GBM - Glioblastoma multiforme(240;0.243) TGAGGTCCCCCAAGGCCCAGG 0.667 NA 6 59 5.18e-06 5.58e-06 1 0 NUTF2 10204 broad.mit.edu 37 16 67899106 67899106 + Missense_Mutation SNP G G C TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr16:67899106G>C uc002eup.2 + 2 172 c.73G>C c.(73-75)GAT>CAT p.D25H NUTF2_uc010vkf.1_Missense_Mutation_p.D25H NM_005796 NP_005787 P61970 NTF2_HUMAN nuclear transport factor 2 25 NTF2. protein transport cytosol|nuclear pore protein binding|transporter activity 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129) ATTTGATAATGATAGAACCCA 0.483 NA 5 36 0 0 0 0 AP1G1 164 broad.mit.edu 37 16 71768545 71768545 + Missense_Mutation SNP G G C TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr16:71768545G>C uc010cgg.2 - 22 2648 c.2334C>G c.(2332-2334)ATC>ATG p.I778M AP1G1_uc002fba.2_Missense_Mutation_p.I781M|AP1G1_uc002fbb.2_Missense_Mutation_p.I801M|AP1G1_uc002faz.2_Missense_Mutation_p.I195M NM_001128 NP_001119 O43747 AP1G1_HUMAN adaptor-related protein complex 1, gamma 1 778 GAE. endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome kinesin binding|protein transporter activity ovary(2) 2 Ovarian(137;0.125) TGACTTGTGTGATGGTCCCCG 0.453 NA 13 193 0 0 0 0 SMG6 23293 broad.mit.edu 37 17 1972199 1972199 + Missense_Mutation SNP C C T TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr17:1972199C>T uc002fub.1 - 16 3763 c.3708G>A c.(3706-3708)ATG>ATA p.M1236I SMG6_uc010vqv.1_Missense_Mutation_p.M328I NM_017575 NP_060045 Q86US8 EST1A_HUMAN Smg-6 homolog, nonsense mediated mRNA decay 1236 Potential. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding central_nervous_system(2)|lung(1)|kidney(1) 4 CCATCTGCCTCATCTGACTGT 0.592 NA 5 21 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7579912 7579912 + Missense_Mutation SNP T T C TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr17:7579912T>C uc002gim.2 - 2 195 c.1A>G c.(1-3)ATG>GTG p.M1V TP53_uc002gig.1_Missense_Mutation_p.M1V|TP53_uc002gih.2_Missense_Mutation_p.M1V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.M1V|TP53_uc010cni.1_Missense_Mutation_p.M1V|TP53_uc002gij.2_Missense_Mutation_p.M1V|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Missense_Mutation_p.M1V|TP53_uc002gio.2_Intron|TP53_uc010vug.1_5'UTR|TP53_uc010cnk.1_Missense_Mutation_p.M16V NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 1 Transcription activation (acidic).|Interaction with HRMT1L2. 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) 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) GGCTCCTCCATGGCAGTGACC 0.572 111 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) 8 18 0 0 0 0 DNAH2 146754 broad.mit.edu 37 17 7734557 7734557 + Silent SNP C C A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr17:7734557C>A uc002giu.1 + 79 12398 c.12384C>A c.(12382-12384)ACC>ACA p.T4128T DNAH2_uc010cnm.1_Silent_p.T1066T NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 4128 TPR 5. ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) AGGCACAAACCCTCTTTGATA 0.557 NA 54 118 4.38e-36 4.91e-36 1 0 MYH13 8735 broad.mit.edu 37 17 10248844 10248844 + Silent SNP G G T TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr17:10248844G>T uc002gmk.1 - 14 1443 c.1353C>A c.(1351-1353)ACC>ACA p.T451T MYH13_uc010vvf.1_Silent_p.T126T NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 451 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 TGGGCTGCTTGGTGTCCAGCT 0.512 NA 24 88 1.75e-11 1.94e-11 1 0 NCOR1 9611 broad.mit.edu 37 17 15971267 15971267 + Missense_Mutation SNP C C T TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr17:15971267C>T uc002gpo.2 - 32 4922 c.4682G>A c.(4681-4683)CGG>CAG p.R1561Q NCOR1_uc002gpn.2_Missense_Mutation_p.R1577Q|NCOR1_uc002gpm.2_Missense_Mutation_p.R82Q|NCOR1_uc010vwb.1_Missense_Mutation_p.R145Q|NCOR1_uc010coy.2_Missense_Mutation_p.R469Q|NCOR1_uc010vwc.1_Missense_Mutation_p.R372Q NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 1561 Interaction with ETO.|Interaction with C1D (By similarity). R -> W (in Ref. 1; AAC33550). cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) CAGGTGGCTCCGATAAACCTC 0.512 NA 18 23 0 0 0 0 AOC3 8639 broad.mit.edu 37 17 41003847 41003847 + Missense_Mutation SNP C C T TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr17:41003847C>T uc002ibv.2 + 1 647 c.487C>T c.(487-489)CCC>TCC p.P163S NM_003734 NP_003725 Q16853 AOC3_HUMAN amine oxidase, copper containing 3 precursor 163 Extracellular (Potential). amine metabolic process|cell adhesion|inflammatory response cell surface|integral to membrane|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity central_nervous_system(2)|ovary(1)|skin(1) 4 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) Hydralazine(DB01275)|Phenelzine(DB00780) TCATGGAGGCCCCCTGCCCTA 0.617 NA 11 37 0 0 0 0 HDAC5 10014 broad.mit.edu 37 17 42155928 42155928 + Missense_Mutation SNP G G A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr17:42155928G>A uc002ifd.1 - 26 3480 c.3269C>T c.(3268-3270)GCC>GTC p.A1090V HDAC5_uc002ife.1_Missense_Mutation_p.A1090V|HDAC5_uc002iff.1_Missense_Mutation_p.A1091V|HDAC5_uc010czp.1_Missense_Mutation_p.A1005V NM_005474 NP_005465 Q9UQL6 HDAC5_HUMAN histone deacetylase 5 isoform 1 1090 Nuclear export signal. B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent cytoplasm|histone deacetylase complex histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding ovary(1) 1 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.118) CGACAGCAAGGCCATGGCGCT 0.692 NA 16 143 0 0 0 0 KIF18B 146909 broad.mit.edu 37 17 43009571 43009571 + Missense_Mutation SNP C C A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr17:43009571C>A uc010wji.1 - 10 1379 c.1278G>T c.(1276-1278)CAG>CAT p.Q426H KIF18B_uc002iht.2_Missense_Mutation_p.Q426H|KIF18B_uc010wjh.1_Missense_Mutation_p.Q414H NM_001080443 NP_001073912 kinesin family member 18B ovary(2) 2 Prostate(33;0.155) GGGTGCAGGGCTGGCTGGGAG 0.657 NA 3 17 0.00024832 0.000261357 1 0 COIL 8161 broad.mit.edu 37 17 55038285 55038285 + Missense_Mutation SNP C C G TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr17:55038285C>G uc002iuu.2 - 1 127 c.96G>C c.(94-96)TTG>TTC p.L32F NM_004645 NP_004636 P38432 COIL_HUMAN coilin 32 Cajal body|nucleolus protein C-terminus binding ovary(1) 1 Breast(9;6.15e-08) GGCATCTGTTCAAGTCGACCA 0.587 NA OREG0024594 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 33 0 0 0 0 C17orf70 80233 broad.mit.edu 37 17 79517287 79517287 + Silent SNP G G T TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr17:79517287G>T uc002kaq.2 - 3 1288 c.1233C>A c.(1231-1233)CCC>CCA p.P411P C17orf70_uc002kao.1_5'Flank|C17orf70_uc010wuq.1_RNA|C17orf70_uc002kap.2_Silent_p.P260P NM_001109760 NP_001103230 Q0VG06 FP100_HUMAN Fanconi anemia core complex 100 kDa subunit 411 DNA repair cytoplasm|intermediate filament cytoskeleton|nucleoplasm DNA binding ovary(1)|skin(1) 2 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) CATGCGTCCTGGGAGACGCGG 0.607 NA 27 101 1.74e-05 1.86e-05 1 0 TSPAN10 83882 broad.mit.edu 37 17 79612251 79612251 + Silent SNP G G A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr17:79612251G>A uc010die.2 + 2 360 c.270G>A c.(268-270)CTG>CTA p.L90L TSPAN10_uc002kaw.1_Silent_p.L90L|TSPAN10_uc010did.1_RNA NM_031945 NP_114151 Q9H1Z9 TSN10_HUMAN tetraspanin 10 90 Helical; (Potential). integral to membrane ovary(1) 1 all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) TCTCCCTGCTGGGGCTGCTGG 0.662 NA 19 73 0 0 0 0 ZNF750 79755 broad.mit.edu 37 17 80788944 80788944 + Missense_Mutation SNP C C G TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr17:80788944C>G uc002kga.2 - 2 1698 c.1387G>C c.(1387-1389)GAA>CAA p.E463Q TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron NM_024702 NP_078978 Q32MQ0 ZN750_HUMAN zinc finger protein 750 463 intracellular zinc ion binding central_nervous_system(1) 1 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) GGTAGGCATTCTGTGCTTTTC 0.522 NA 29 216 0 0 0 0 KDM4B 23030 broad.mit.edu 37 19 5047507 5047507 + Silent SNP C C T TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr19:5047507C>T uc002mbq.3 + 6 679 c.453C>T c.(451-453)ATC>ATT p.I151I KDM4B_uc010xil.1_Silent_p.I151I|KDM4B_uc010xim.1_Silent_p.I151I NM_015015 NP_055830 O94953 KDM4B_HUMAN jumonji domain containing 2B 151 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding lung(1) 1 AGTGGAACATCGGGAGCCTCC 0.662 NA 5 59 0 0 0 0 ZNF358 140467 broad.mit.edu 37 19 7584186 7584186 + Missense_Mutation SNP G G A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr19:7584186G>A uc002mgn.2 + 2 228 c.58G>A c.(58-60)GAA>AAA p.E20K NM_018083 NP_060553 Q9NW07 ZN358_HUMAN zinc finger protein 358 20 embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 ACCCGTTTATGAAGAGCTCGA 0.577 NA 10 109 0 0 0 0 ZNF615 284370 broad.mit.edu 37 19 52506950 52506950 + Silent SNP C C T TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr19:52506950C>T uc002pye.1 - 3 307 c.15G>A c.(13-15)CAG>CAA p.Q5Q ZNF615_uc002pyf.1_Silent_p.Q5Q|ZNF615_uc002pyg.1_5'UTR|ZNF615_uc002pyh.1_Silent_p.Q5Q|ZNF615_uc010epi.1_Intron|ZNF615_uc010ydg.1_Intron NM_198480 NP_940882 Q8N8J6 ZN615_HUMAN zinc finger protein 615 5 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(1) 5 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) CAAAAGTCACCTGGGCCTGCA 0.333 NA 6 49 0 0 0 0 CNOT3 4849 broad.mit.edu 37 19 54656252 54656252 + Missense_Mutation SNP G G T TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr19:54656252G>T uc002qdj.1 + 15 2104 c.1793G>T c.(1792-1794)GGT>GTT p.G598V CNOT3_uc010yel.1_Missense_Mutation_p.G598V|CNOT3_uc002qdi.2_Missense_Mutation_p.G511V|CNOT3_uc002qdk.1_Missense_Mutation_p.G598V|CNOT3_uc010ere.1_RNA|CNOT3_uc002qdl.2_Missense_Mutation_p.G53V NM_014516 NP_055331 O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 598 Pro-rich. nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CTGTCGCTGGGTGTCTGTCCA 0.632 NA 8 83 3.1e-07 3.39e-07 1 0 ZNF418 147686 broad.mit.edu 37 19 58438294 58438294 + Missense_Mutation SNP C C A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr19:58438294C>A uc002qqs.1 - 4 1547 c.1255G>T c.(1255-1257)GGT>TGT p.G419C ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Missense_Mutation_p.G334C NM_133460 NP_597717 Q8TF45 ZN418_HUMAN zinc finger protein 418 419 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158) CCAGTGTGACCTCGCTGATGG 0.463 NA 31 151 6.01e-18 6.71e-18 1 0 C19orf18 147685 broad.mit.edu 37 19 58472888 58472888 + Missense_Mutation SNP G G A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr19:58472888G>A uc002qqv.2 - 5 507 c.403C>T c.(403-405)CTC>TTC p.L135F NM_152474 NP_689687 Q8NEA5 CS018_HUMAN hypothetical protein LOC147685 precursor 135 Cytoplasmic (Potential). integral to membrane ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017) AGTGACTCGAGCTGTTGTCTT 0.443 NA 14 86 0 0 0 0 ADAM17 6868 broad.mit.edu 37 2 9676833 9676833 + Missense_Mutation SNP C C T TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr2:9676833C>T uc002qzu.2 - 3 538 c.355G>A c.(355-357)GTG>ATG p.V119M ADAM17_uc010ewy.2_Missense_Mutation_p.V119M|ADAM17_uc010ewz.2_Intron|ADAM17_uc010exb.1_Missense_Mutation_p.V119M|ADAM17_uc002qzv.2_Missense_Mutation_p.V119M NM_003183 NP_003174 P78536 ADA17_HUMAN a disintegrin and metalloprotease domain 17 119 B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding lung(1)|kidney(1) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.225) TAACCAACCACGTGTCCAGTG 0.428 NA 7 57 0 0 0 0 MRPL35 51318 broad.mit.edu 37 2 86433353 86433353 + Silent SNP C C T TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr2:86433353C>T uc002srg.3 + 2 226 c.168C>T c.(166-168)TCC>TCT p.S56S MRPL35_uc002srf.3_Silent_p.S56S NM_016622 NP_057706 Q9NZE8 RM35_HUMAN mitochondrial ribosomal protein L35 isoform a 56 translation mitochondrial ribosome structural constituent of ribosome 0 TTGTTTCCTCCACTCCCAGAC 0.418 NA 20 127 0 0 0 0 NCK2 8440 broad.mit.edu 37 2 106498121 106498121 + Silent SNP G G A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr2:106498121G>A uc002tdg.2 + 4 1006 c.564G>A c.(562-564)CTG>CTA p.L188L NCK2_uc002tdh.2_Intron|NCK2_uc002tdi.2_Silent_p.L188L NM_003581 NP_003572 O43639 NCK2_HUMAN NCK adaptor protein 2 isoform A 188 axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation cytosol|endoplasmic reticulum cytoskeletal adaptor activity|receptor signaling complex scaffold activity ovary(1)|lung(1) 2 GCGCCTCGCTGAGCAATGGCC 0.647 NA 12 94 0 0 0 0 YSK4 80122 broad.mit.edu 37 2 135756548 135756548 + Missense_Mutation SNP G G C TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr2:135756548G>C uc002tue.1 - 5 365 c.334C>G c.(334-336)CAA>GAA p.Q112E YSK4_uc010fne.1_Missense_Mutation_p.Q84E|YSK4_uc002tuf.1_Missense_Mutation_p.Q112E|YSK4_uc010fnc.1_Missense_Mutation_p.Q112E|YSK4_uc010fnd.1_Intron|YSK4_uc010zbg.1_Missense_Mutation_p.Q112E|YSK4_uc002tui.3_Missense_Mutation_p.Q129E NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Yeast Sps1/Ste20-related kinase 4 isoform 1 112 ATP binding|protein serine/threonine kinase activity stomach(2)|urinary_tract(1)|ovary(1)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(221;0.112) GCCCATTCTTGAAGCGATGAG 0.443 NA 9 61 0 0 0 0 BAZ2B 29994 broad.mit.edu 37 2 160241870 160241870 + Missense_Mutation SNP G G C TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr2:160241870G>C uc002uao.2 - 23 3834 c.3482C>G c.(3481-3483)GCT>GGT p.A1161G BAZ2B_uc002uap.2_Missense_Mutation_p.A1125G NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1161 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 TTCTCCAAGAGCTGTTTTAGC 0.323 NA 4 46 0 0 0 0 SCN3A 6328 broad.mit.edu 37 2 165949010 165949010 + Missense_Mutation SNP C C G TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr2:165949010C>G uc002ucx.2 - 27 5053 c.4561G>C c.(4561-4563)GAT>CAT p.D1521H SCN3A_uc010zcy.1_Missense_Mutation_p.D4H|SCN3A_uc002ucy.2_Missense_Mutation_p.D1472H|SCN3A_uc002ucz.2_Missense_Mutation_p.D1472H NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 1521 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) GTTACAAAATCAAAGACCATT 0.353 NA 16 56 0 0 0 0 FARP2 9855 broad.mit.edu 37 2 242407683 242407683 + Silent SNP C C T TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr2:242407683C>T uc002wbi.1 + 18 2139 c.2022C>T c.(2020-2022)CTC>CTT p.L674L NM_014808 NP_055623 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 674 DH. axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction cytoskeleton|cytosol|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) ACTTGCCTCTCAACACGTTCC 0.567 NA 9 53 0 0 0 0 C20orf117 140710 broad.mit.edu 37 20 35443718 35443718 + Silent SNP G G C TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr20:35443718G>C uc002xgd.1 - 5 1740 c.1413C>G c.(1411-1413)CTC>CTG p.L471L C20orf117_uc002xge.1_RNA NM_199181 NP_954650 O94964 K0889_HUMAN hypothetical protein LOC140710 isoform 2 471 0 Myeloproliferative disorder(115;0.00874) TGGCATGGATGAGCTTGGTGT 0.637 NA 24 46 0 0 0 0 CSTF1 1477 broad.mit.edu 37 20 54972832 54972832 + Missense_Mutation SNP G G A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr20:54972832G>A uc002xxl.1 + 4 780 c.580G>A c.(580-582)GAT>AAT p.D194N CSTF1_uc002xxm.1_Missense_Mutation_p.D194N|CSTF1_uc002xxn.1_Missense_Mutation_p.D194N|CSTF1_uc002xxo.1_Missense_Mutation_p.D137N NM_001033521 NP_001028693 Q05048 CSTF1_HUMAN cleavage stimulation factor subunit 1 194 WD 2. mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm protein binding|RNA binding central_nervous_system(1) 1 Colorectal(105;0.202) TGGTTCAAGGGATTATACTCT 0.393 NA 7 54 0 0 0 0 LAMA5 3911 broad.mit.edu 37 20 60888187 60888187 + Missense_Mutation SNP C C T TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr20:60888187C>T uc002ycq.2 - 65 8979 c.8912G>A c.(8911-8913)CGG>CAG p.R2971Q NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 2971 Laminin G-like 2. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGACACGAGCCGCAGCTCCTG 0.652 NA 14 7 0 0 0 0 CABLES2 81928 broad.mit.edu 37 20 60966046 60966046 + Missense_Mutation SNP C C T TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr20:60966046C>T uc002ycv.2 - 10 1425 c.1418G>A c.(1417-1419)CGC>CAC p.R473H NM_031215 NP_112492 Q9BTV7 CABL2_HUMAN Cdk5 and Abl enzyme substrate 2 473 cell cycle|cell division|regulation of cell cycle|regulation of cell division cyclin-dependent protein kinase regulator activity pancreas(1) 1 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) CTGGGTGAGGCGCCTGTAATG 0.612 NA 24 71 0 0 0 0 CRKL 1399 broad.mit.edu 37 22 21304053 21304053 + Missense_Mutation SNP G G A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr22:21304053G>A uc002ztf.2 + 3 1341 c.832G>A c.(832-834)GAA>AAA p.E278K CRKL_uc002ztg.1_RNA NM_005207 NP_005198 P46109 CRKL_HUMAN v-crk sarcoma virus CT10 oncogene homolog 278 SH3 2. JNK cascade|Ras protein signal transduction cytosol protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity 0 all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|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;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176) GTGGGAAGGCGAAGTGAACGG 0.453 NA 18 218 0 0 0 0 TOP3B 8940 broad.mit.edu 37 22 22313587 22313587 + Missense_Mutation SNP C C G TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr22:22313587C>G uc002zvs.2 - 16 2257 c.1822G>C c.(1822-1824)GAG>CAG p.E608Q TOP3B_uc010gtm.1_Missense_Mutation_p.E153Q|TOP3B_uc002zvr.2_Missense_Mutation_p.E333Q|TOP3B_uc010gtl.2_Missense_Mutation_p.E608Q|TOP3B_uc002zvt.3_Missense_Mutation_p.E608Q NM_003935 NP_003926 O95985 TOP3B_HUMAN topoisomerase (DNA) III beta 608 DNA topological change nucleus ATP binding|DNA topoisomerase type I activity|protein binding kidney(1) 1 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.145) AAAGACACCTCCATCAACTCA 0.602 NA 6 83 0 0 0 0 MYO18B 84700 broad.mit.edu 37 22 26228956 26228956 + Missense_Mutation SNP C C A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr22:26228956C>A uc003abz.1 + 16 3302 c.3052C>A c.(3052-3054)CCC>ACC p.P1018T MYO18B_uc003aca.1_Missense_Mutation_p.P899T|MYO18B_uc010guy.1_Missense_Mutation_p.P899T|MYO18B_uc010guz.1_Missense_Mutation_p.P899T|MYO18B_uc011aka.1_Missense_Mutation_p.P172T|MYO18B_uc011akb.1_Missense_Mutation_p.P531T NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1018 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 GGATCAAAATCCCTCTCAGGT 0.488 NA 10 51 1.59e-06 1.73e-06 1 0 CPNE9 151835 broad.mit.edu 37 3 9747714 9747714 + Missense_Mutation SNP G G C TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr3:9747714G>C uc003bsd.2 + 6 515 c.344G>C c.(343-345)GGA>GCA p.G115A NM_153635 NP_705899 Q8IYJ1 CPNE9_HUMAN copine-like protein 115 ovary(2) 2 Medulloblastoma(99;0.227) GAGGTGATTGGAGGCCAGGGC 0.587 NA 4 44 0 0 0 0 IL17RE 132014 broad.mit.edu 37 3 9945094 9945094 + Missense_Mutation SNP C C A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr3:9945094C>A uc003btu.2 + 3 263 c.146C>A c.(145-147)ACT>AAT p.T49N CIDEC_uc003bto.2_Intron|IL17RE_uc003btv.2_Missense_Mutation_p.T49N|IL17RE_uc011atn.1_Intron|IL17RE_uc003btw.2_Missense_Mutation_p.T49N|IL17RE_uc003btx.2_Intron|IL17RE_uc010hcq.2_Missense_Mutation_p.T49N|IL17RE_uc003bty.2_Intron NM_153483 NP_705616 Q8NFR9 I17RE_HUMAN interleukin 17 receptor E isoform 1 49 Extracellular (Potential). cytoplasm|extracellular region|integral to membrane receptor activity central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(96;5.34e-64) GACAGTTTCACTGGTGAGTCG 0.512 NA 10 38 1.62e-10 1.79e-10 1 0 TGFBR2 7048 broad.mit.edu 37 3 30729875 30729875 + Splice_Site SNP G G A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr3:30729875G>A uc003ceo.2 + 6 1779 c.1397_splice c.e6-1 p.E466_splice TGFBR2_uc003cen.2_Splice_Site_p.E491_splice NM_003242 NP_003233 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1) 26 TTTCTTCACAGAAGTAAAAGA 0.512 NA 15 70 0 0 0 0 TGFBR2 7048 broad.mit.edu 37 3 30729917 30729917 + Missense_Mutation SNP G G A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr3:30729917G>A uc003ceo.2 + 6 1820 c.1438G>A c.(1438-1440)GAG>AAG p.E480K TGFBR2_uc003cen.2_Missense_Mutation_p.E505K NM_003242 NP_003233 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II 480 Protein kinase.|Cytoplasmic (Potential). activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1) 26 CAAGGTGCGGGAGCACCCCTG 0.507 NA 15 68 0 0 0 0 ROBO2 6092 broad.mit.edu 37 3 77666731 77666731 + Missense_Mutation SNP G G C TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr3:77666731G>C uc003dpy.3 + 22 4004 c.3361G>C c.(3361-3363)GAA>CAA p.E1121Q ROBO2_uc003dpz.2_Missense_Mutation_p.E1125Q|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.E1125Q|ROBO2_uc003dqa.2_Missense_Mutation_p.E248Q NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 1121 Cytoplasmic (Potential). apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1) 11 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) TCTGGAAGATGAACTGGAAGA 0.458 NA 16 55 0 0 0 0 PVRL3 25945 broad.mit.edu 37 3 110845177 110845177 + Missense_Mutation SNP T T C TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr3:110845177T>C uc003dxt.1 + 5 1064 c.1064T>C c.(1063-1065)ATT>ACT p.I355T PVRL3_uc003dxu.1_Missense_Mutation_p.I332T NM_015480 NP_056295 Q9NQS3 PVRL3_HUMAN poliovirus receptor-related 3 precursor 355 Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane cell adhesion molecule binding|protein homodimerization activity upper_aerodigestive_tract(2) 2 GTCATCTACATTTCAGGTAAG 0.299 NA 13 42 0 0 0 0 GAP43 2596 broad.mit.edu 37 3 115395104 115395104 + Missense_Mutation SNP C C T TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr3:115395104C>T uc003ebq.2 + 2 661 c.275C>T c.(274-276)CCA>CTA p.P92L GAP43_uc003ebr.2_Missense_Mutation_p.P128L NM_002045 NP_002036 P17677 NEUM_HUMAN growth associated protein 43 isoform 2 92 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding cell junction|filopodium membrane|growth cone membrane|synapse calmodulin binding ovary(1) 1 GBM - Glioblastoma multiforme(114;0.164) GAAGCAGCCCCAGCCACTGGC 0.602 NA 6 47 0 0 0 0 ZNF148 7707 broad.mit.edu 37 3 124998088 124998088 + Missense_Mutation SNP G G A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr3:124998088G>A uc003ehx.3 - 6 949 c.463C>T c.(463-465)CTT>TTT p.L155F SLC12A8_uc003ehw.3_5'UTR|ZNF148_uc003ehz.3_Missense_Mutation_p.L155F|ZNF148_uc010hsa.2_Missense_Mutation_p.L155F|ZNF148_uc003eia.3_Missense_Mutation_p.L155F|ZNF148_uc003ehy.2_Intron NM_021964 NP_068799 Q9UQR1 ZN148_HUMAN zinc finger protein 148 155 cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding skin(2)|ovary(1)|pancreas(1) 4 TTTATTGTAAGGATCTAGTTC 0.299 NA 31 48 0 0 0 0 RASA2 5922 broad.mit.edu 37 3 141231006 141231006 + Nonsense_Mutation SNP T T A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr3:141231006T>A uc003etz.1 + 2 135 c.135T>A c.(133-135)TGT>TGA p.C45* RASA2_uc010huq.1_Nonsense_Mutation_p.C45*|RASA2_uc003eua.1_Nonsense_Mutation_p.C45* NM_006506 NP_006497 Q15283 RASA2_HUMAN RAS p21 protein activator 2 45 C2 1. intracellular signal transduction|negative regulation of Ras protein signal transduction intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm metal ion binding|Ras GTPase activator activity ovary(2)|lung(2)|breast(1)|skin(1) 6 TGCCAACAGGTGAAGCAAAAA 0.323 NA 15 45 0 0 0 0 IGSF10 285313 broad.mit.edu 37 3 151166371 151166371 + Silent SNP C C T TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr3:151166371C>T uc011bod.1 - 4 1398 c.1398G>A c.(1396-1398)AGG>AGA p.R466R NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 466 Ig-like C2-type 1. cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GTTTCACTGGCCTCATCTCTG 0.453 NA 33 162 0 0 0 0 PRKG2 5593 broad.mit.edu 37 4 82056396 82056396 + Silent SNP T T A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr4:82056396T>A uc003hmh.2 - 13 1703 c.1689A>T c.(1687-1689)GCA>GCT p.A563A PRKG2_uc011ccf.1_Silent_p.A143A|PRKG2_uc011ccg.1_Silent_p.A143A|PRKG2_uc011cch.1_Silent_p.A534A NM_006259 NP_006250 Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 563 Protein kinase. platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1) 7 GGTAATCAAATGCTTCTGTCA 0.388 NA 12 61 0 0 0 0 MTTP 4547 broad.mit.edu 37 4 100532392 100532392 + Missense_Mutation SNP T T C TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr4:100532392T>C uc003hvc.3 + 14 2118 c.1862T>C c.(1861-1863)ATA>ACA p.I621T MTTP_uc011cej.1_Missense_Mutation_p.I648T NM_000253 NP_000244 P55157 MTP_HUMAN microsomal triglyceride transfer protein large 621 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity ovary(3)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) ACTGGCTACATAGAACGTATG 0.433 NA 15 89 0 0 0 0 FAT4 79633 broad.mit.edu 37 4 126238826 126238826 + Missense_Mutation SNP C C G TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr4:126238826C>G uc003ifj.3 + 1 1260 c.1260C>G c.(1258-1260)ATC>ATG p.I420M NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 420 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TGAGCCTAATCAAGGTGGCCA 0.607 NA OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 30 0 0 0 0 GYPB 2994 broad.mit.edu 37 4 144920591 144920591 + Missense_Mutation SNP G G C TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr4:144920591G>C uc003ijm.1 - 3 204 c.148C>G c.(148-150)CAA>GAA p.Q50E GYPA_uc003ijn.2_Intron|GYPB_uc011chs.1_RNA|GYPB_uc011cht.1_RNA|GYPB_uc011chu.1_RNA|GYPB_uc010ioo.1_RNA|GYPB_uc010iop.2_RNA|GYPB_uc011chv.1_RNA|GYPB_uc011chw.1_RNA|GYPB_uc011chx.1_Intron|GYPB_uc011chy.1_RNA|GYPB_uc011chz.1_RNA NM_002100 NP_002091 P06028 GLPB_HUMAN glycophorin B precursor 50 Extracellular (Potential). integral to plasma membrane 0 all_hematologic(180;0.158) TGGACAAGTTGTCCCGTTTCT 0.328 NA 5 6 0 0 0 0 CTNND2 1501 broad.mit.edu 37 5 11364901 11364901 + Missense_Mutation SNP G G A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr5:11364901G>A uc003jfa.1 - 8 1424 c.1279C>T c.(1279-1281)CGC>TGC p.R427C CTNND2_uc010itt.2_Missense_Mutation_p.R336C|CTNND2_uc011cmy.1_Missense_Mutation_p.R90C|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_5'UTR NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 427 ARM 1. multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 TGATAGACGCGGTCTTCATAG 0.622 NA 16 49 0 0 0 0 TTC33 23548 broad.mit.edu 37 5 40747015 40747015 + Missense_Mutation SNP C C T rs142188985 TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr5:40747015C>T uc003jma.2 - 2 254 c.106G>A c.(106-108)GAT>AAT p.D36N TTC33_uc011cpm.1_5'UTR|TTC33_uc010ivg.2_Missense_Mutation_p.D36N NM_012382 NP_036514 Q6PID6 TTC33_HUMAN tetratricopeptide repeat domain 33 36 binding ovary(1) 1 TTCCCTTCATCGTTGTCAACT 0.443 NA 3 32 0 0 0 0 PCDHB6 56130 broad.mit.edu 37 5 140531980 140531980 + Silent SNP G G A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr5:140531980G>A uc003lir.2 + 1 2142 c.2142G>A c.(2140-2142)AGG>AGA p.R714R PCDHB6_uc011dah.1_Silent_p.R578R NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 precursor 714 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGTGCAGGAGGAGCAGGGCGG 0.662 NA 16 155 0 0 0 0 PCDHB7 56129 broad.mit.edu 37 5 140553835 140553835 + Silent SNP C C T TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr5:140553835C>T uc003lit.2 + 1 1593 c.1419C>T c.(1417-1419)GTC>GTT p.V473V NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 473 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCGGCAGTGTCAGCGCCACAG 0.637 NA 6 85 0 0 0 0 PCDHB12 56124 broad.mit.edu 37 5 140589072 140589072 + Missense_Mutation SNP A A T TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr5:140589072A>T uc003liz.2 + 1 782 c.593A>T c.(592-594)AAG>ATG p.K198M PCDHB12_uc011dak.1_Intron NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN protocadherin beta 12 precursor 198 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTTCTGGACAAGGCGCTGGAT 0.488 NA 14 56 0 0 0 0 PCYOX1L 78991 broad.mit.edu 37 5 148745675 148745675 + Missense_Mutation SNP G G T TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr5:148745675G>T uc003lqk.2 + 4 703 c.641G>T c.(640-642)CGG>CTG p.R214L PCYOX1L_uc003lql.2_Missense_Mutation_p.R197L|PCYOX1L_uc010jgz.2_Intron|PCYOX1L_uc003lqm.2_Missense_Mutation_p.R96L|PCYOX1L_uc003lqn.2_Missense_Mutation_p.R124L NM_024028 NP_076933 Q8NBM8 PCYXL_HUMAN prenylcysteine oxidase 1 like precursor 214 prenylcysteine catabolic process extracellular region oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGTCCTGCGGGCCAGCTAT 0.597 NA 10 35 0.000673444 0.000701782 1 0 CNOT8 9337 broad.mit.edu 37 5 154250259 154250259 + Missense_Mutation SNP C C T TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr5:154250259C>T uc003lvu.2 + 5 829 c.350C>T c.(349-351)GCT>GTT p.A117V CNOT8_uc011ddf.1_Missense_Mutation_p.A11V|CNOT8_uc011ddg.1_Missense_Mutation_p.A11V|CNOT8_uc011ddh.1_Intron|CNOT8_uc003lvv.2_Missense_Mutation_p.A117V|CNOT8_uc010jig.2_Missense_Mutation_p.A11V|CNOT8_uc010jif.2_Missense_Mutation_p.A11V|CNOT8_uc003lvw.2_Missense_Mutation_p.A117V|CNOT8_uc011ddi.1_Missense_Mutation_p.A11V|CNOT8_uc011ddj.1_Intron NM_004779 NP_004770 Q9UFF9 CNOT8_HUMAN CCR4-NOT transcription complex, subunit 8 117 negative regulation of cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening cytosol|nucleus nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity 0 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GATCTCCTTGCTAACTCAGGA 0.418 NA Direct_reversal_of_damage 22 75 0 0 0 0 B4GALT7 11285 broad.mit.edu 37 5 177036573 177036573 + Silent SNP G G A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr5:177036573G>A uc003mhy.2 + 6 901 c.861G>A c.(859-861)CTG>CTA p.L287L B4GALT7_uc003mhz.2_Silent_p.L173L NM_007255 NP_009186 Q9UBV7 B4GT7_HUMAN xylosylprotein beta 1,4-galactosyltransferase 7 287 Lumenal (Potential). fibril organization|glycosaminoglycan biosynthetic process|negative regulation of fibroblast proliferation|protein modification process|proteoglycan metabolic process Golgi cisterna membrane|integral to membrane metal ion binding|xylosylprotein 4-beta-galactosyltransferase activity pancreas(1) 1 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGGGAGGCCTGAACACTGTGA 0.612 NA 23 125 0 0 0 0 TNXB 7148 broad.mit.edu 37 6 32020544 32020544 + Silent SNP G G A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr6:32020544G>A uc003nzl.2 - 26 9214 c.9012C>T c.(9010-9012)ACC>ACT p.T3004T NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 3051 Fibronectin type-III 22. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 GGCCCCCCACGGTGACCTCGC 0.682 NA 10 37 0 0 0 0 PRIM2 5558 broad.mit.edu 37 6 57398239 57398239 + Missense_Mutation SNP G G T TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr6:57398239G>T uc003pdx.2 + 10 1029 c.942G>T c.(940-942)AAG>AAT p.K314N NM_000947 NP_000938 P49643 PRI2_HUMAN DNA primase polypeptide 2 314 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding 0 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) TATTTCTGAAGGGCATTGGTT 0.388 NA 11 104 3.07e-06 3.32e-06 1 0 BAI3 577 broad.mit.edu 37 6 69684692 69684692 + Silent SNP G G T rs139424513 TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr6:69684692G>T uc003pev.3 + 9 2011 c.1563G>T c.(1561-1563)TCG>TCT p.S521S BAI3_uc010kak.2_Silent_p.S521S NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 521 Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) ATCTGATGTCGATGGTGTGGA 0.413 NA 3 33 0.004672 0.00480908 1 0 MAP3K7 6885 broad.mit.edu 37 6 91226264 91226264 + Missense_Mutation SNP C C T TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr6:91226264C>T uc003pnz.1 - 17 1939 c.1777G>A c.(1777-1779)GAG>AAG p.E593K MAP3K7_uc003pny.1_Missense_Mutation_p.E130K|MAP3K7_uc003poa.1_3'UTR|MAP3K7_uc003pob.1_Missense_Mutation_p.E566K|MAP3K7_uc003poc.1_3'UTR NM_145331 NP_663304 O43318 M3K7_HUMAN mitogen-activated protein kinase kinase kinase 7 593 activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|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|transforming growth factor beta receptor signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1) 6 all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164) OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429) CTGATGACCTCTAGTTGTTTT 0.378 NA 19 95 0 0 0 0 TPD52L1 7164 broad.mit.edu 37 6 125569434 125569434 + Silent SNP G G A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr6:125569434G>A uc003pzu.1 + 4 510 c.291G>A c.(289-291)AAG>AAA p.K97K TPD52L1_uc003pzv.1_Silent_p.K97K|TPD52L1_uc003pzw.1_Silent_p.K97K|TPD52L1_uc003pzx.1_Silent_p.K68K|TPD52L1_uc003pzy.1_Silent_p.K68K|TPD52L1_uc003pzz.1_Silent_p.K68K NM_003287 NP_003278 Q16890 TPD53_HUMAN tumor protein D52-like 1 isoform 1 97 DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity perinuclear region of cytoplasm caspase activator activity|protein heterodimerization activity|protein homodimerization activity 0 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0265) CTAGCTACAAGAAAACACATG 0.413 NA 5 17 0 0 0 0 SCIN 85477 broad.mit.edu 37 7 12691524 12691524 + Missense_Mutation SNP C C T TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr7:12691524C>T uc003ssn.3 + 15 2228 c.2018C>T c.(2017-2019)TCT>TTT p.S673F SCIN_uc010ktt.2_RNA|SCIN_uc003sso.3_Missense_Mutation_p.S426F NM_001112706 NP_001106177 Q9Y6U3 ADSV_HUMAN scinderin isoform 1 673 Ca(2+)-dependent actin binding. actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation cell cortex|cytoskeleton 1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding ovary(2) 2 UCEC - Uterine corpus endometrioid carcinoma (126;0.195) TCTCTGAAGTCTGGTAAGCTC 0.338 NA 5 12 0 0 0 0 CPVL 54504 broad.mit.edu 37 7 29111497 29111497 + Silent SNP G G A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr7:29111497G>A uc003szv.2 - 9 875 c.756C>T c.(754-756)TTC>TTT p.F252F CPVL_uc003szw.2_Silent_p.F252F|CPVL_uc003szx.2_Silent_p.F252F NM_031311 NP_112601 Q9H3G5 CPVL_HUMAN serine carboxypeptidase vitellogenic-like 252 proteolysis protein binding|serine-type carboxypeptidase activity ovary(2) 2 TTTGGTACAGGAATTCTGCAT 0.428 NA 40 63 0 0 0 0 FIGNL1 63979 broad.mit.edu 37 7 50514941 50514941 + Missense_Mutation SNP C C G TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr7:50514941C>G uc003tpc.2 - 4 422 c.45G>C c.(43-45)CAG>CAC p.Q15H FIGNL1_uc003tpb.2_5'UTR|FIGNL1_uc003tpd.2_Missense_Mutation_p.Q15H|FIGNL1_uc003tpe.2_Missense_Mutation_p.Q15H|FIGNL1_uc010kyy.2_Missense_Mutation_p.Q15H NM_001042762 NP_001036227 Q6PIW4 FIGL1_HUMAN fidgetin-like 1 15 ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle cytoplasm|nucleus ATP binding|magnesium ion binding|nucleoside-triphosphatase activity ovary(3) 3 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06) AGTAATTCTTCTGCCATTCAC 0.413 NA 13 26 0 0 0 0 HIP1 3092 broad.mit.edu 37 7 75192564 75192564 + Silent SNP C C T TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr7:75192564C>T uc003uds.1 - 10 848 c.807G>A c.(805-807)TTG>TTA p.L269L HIP1_uc011kfz.1_Silent_p.L146L NM_005338 NP_005329 O00291 HIP1_HUMAN huntingtin interacting protein 1 269 activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1) 8 ACAGATCTTTCAACCTAGGGG 0.602 NA T PDGFRB CMML 6 65 0 0 0 0 PDK4 5166 broad.mit.edu 37 7 95224335 95224335 + Nonsense_Mutation SNP C C T TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr7:95224335C>T uc003uoa.2 - 2 592 c.272G>A c.(271-273)TGG>TAG p.W91* PDK4_uc003unz.2_5'Flank NM_002612 NP_002603 Q16654 PDK4_HUMAN pyruvate dehydrogenase kinase 4 precursor 91 glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity 0 all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0151) CACCACTTACCAGCTTTTAAC 0.388 NA 16 125 0 0 0 0 FSCN3 29999 broad.mit.edu 37 7 127235925 127235925 + Missense_Mutation SNP C C T TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr7:127235925C>T uc003vmd.1 + 2 928 c.709C>T c.(709-711)CCA>TCA p.P237S FSCN3_uc003vmc.1_Missense_Mutation_p.P192S|FSCN3_uc011kog.1_RNA|FSCN3_uc011koh.1_Missense_Mutation_p.P103S|FSCN3_uc010llc.1_Missense_Mutation_p.P237S NM_020369 NP_065102 Q9NQT6 FSCN3_HUMAN fascin 3 237 actin cytoskeleton|cytoplasm actin filament binding|protein binding, bridging ovary(1) 1 CATGTTATATCCACAGGGCAC 0.582 NA 28 87 0 0 0 0 MLL3 58508 broad.mit.edu 37 7 151859737 151859737 + Missense_Mutation SNP G G C TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr7:151859737G>C uc003wla.2 - 43 11144 c.10925C>G c.(10924-10926)TCT>TGT p.S3642C MLL3_uc003wkz.2_Missense_Mutation_p.S2703C|MLL3_uc003wky.2_Missense_Mutation_p.S1151C NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 3642 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TGCAGGAGTAGAGGTAGTTTC 0.507 NA N medulloblastoma 22 75 0 0 0 0 MLL3 58508 broad.mit.edu 37 7 151859794 151859794 + Nonsense_Mutation SNP G G C TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr7:151859794G>C uc003wla.2 - 43 11087 c.10868C>G c.(10867-10869)TCA>TGA p.S3623* MLL3_uc003wkz.2_Nonsense_Mutation_p.S2684*|MLL3_uc003wky.2_Nonsense_Mutation_p.S1132* NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 3623 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) ATGGGGAGTTGATGGAGCCTT 0.373 NA N medulloblastoma 12 56 0 0 0 0 DLC1 10395 broad.mit.edu 37 8 12957657 12957657 + Missense_Mutation SNP C C T rs140340878 byFrequency TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr8:12957657C>T uc003wwm.2 - 9 2633 c.2189G>A c.(2188-2190)CGA>CAA p.R730Q DLC1_uc003wwk.1_Missense_Mutation_p.R293Q|DLC1_uc003wwl.1_Missense_Mutation_p.R327Q|DLC1_uc011kxx.1_Missense_Mutation_p.R219Q NM_182643 NP_872584 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 isoform 1 730 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding ovary(3)|pancreas(2)|lung(1)|kidney(1) 7 GCTCCTCTTTCGTACCATGGG 0.612 NA 6 71 0 0 0 0 RUNX1T1 862 broad.mit.edu 37 8 93029589 93029589 + Missense_Mutation SNP G G T TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr8:93029589G>T uc003yfd.2 - 2 175 c.91C>A c.(91-93)CGT>AGT p.R31S RUNX1T1_uc003yfc.1_Missense_Mutation_p.R4S|RUNX1T1_uc003yfe.1_5'UTR|RUNX1T1_uc010mao.2_Missense_Mutation_p.R4S|RUNX1T1_uc011lgi.1_Missense_Mutation_p.R42S|RUNX1T1_uc003yfh.1_5'UTR|RUNX1T1_uc003yfb.1_5'UTR|RUNX1T1_uc003yff.1_5'UTR|RUNX1T1_uc003yfg.1_5'UTR NM_175634 NP_783552 Q06455 MTG8_HUMAN acute myelogenous leukemia 1 translocation 1 31 Breakpoint for translocation to form AML1-MTG8 in AML-M2. generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1) 16 BRCA - Breast invasive adenocarcinoma(11;0.0141) TTCTCAGTACGATCTGGAGGA 0.448 NA 9 66 3.86e-05 4.1e-05 1 0 UBR5 51366 broad.mit.edu 37 8 103291308 103291308 + Silent SNP G G A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr8:103291308G>A uc003ykr.1 - 43 6163 c.6130C>T c.(6130-6132)CTG>TTG p.L2044L UBR5_uc003yks.1_Silent_p.L2044L NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 2044 Pro-rich. cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) GCTTCAGCCAGAGGCACTTCA 0.433 NA 7 106 0 0 0 0 SLC25A32 81034 broad.mit.edu 37 8 104417026 104417026 + Silent SNP G G A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr8:104417026G>A uc003yll.2 - 3 672 c.369C>T c.(367-369)TAC>TAT p.Y123Y SLC25A32_uc011lhr.1_Intron NM_030780 NP_110407 Q9H2D1 MFTC_HUMAN solute carrier family 25, member 32 123 Helical; Name=3; (Potential).|Solcar 2. folic acid metabolic process|mitochondrial transport integral to membrane|mitochondrial inner membrane binding|folic acid transporter activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197) Folic Acid(DB00158) CTGAGACAAGGTATTCTGTTG 0.333 NA 6 52 0 0 0 0 OC90 729330 broad.mit.edu 37 8 133051056 133051056 + Missense_Mutation SNP C C G TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr8:133051056C>G uc003ytg.2 - 6 561 c.561G>C c.(559-561)TTG>TTC p.L187F OC90_uc011lix.1_Missense_Mutation_p.L203F NM_001080399 NP_001073868 Q02509 OC90_HUMAN otoconin 90 203 lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity ovary(2)|skin(1) 3 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) GAAGTGTTGTCAAGTCTTCCT 0.527 NA 4 36 0 0 0 0 SLC45A4 57210 broad.mit.edu 37 8 142228641 142228641 + Silent SNP G G A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr8:142228641G>A uc003ywd.1 - 4 1253 c.945C>T c.(943-945)GCC>GCT p.A315A SLC45A4_uc003ywc.1_Silent_p.A315A|SLC45A4_uc010meq.1_Silent_p.A313A NM_001080431 NP_001073900 Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 366 transport integral to membrane ovary(2) 2 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) CCTCCTTGGCGGCTTCCTTGA 0.622 NA 22 83 0 0 0 0 GSDMD 79792 broad.mit.edu 37 8 144644225 144644225 + Missense_Mutation SNP A A T TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr8:144644225A>T uc010mfe.2 + 11 1623 c.920A>T c.(919-921)GAG>GTG p.E307V GSDMD_uc003yyf.2_Missense_Mutation_p.E355V|GSDMD_uc003yyg.2_Missense_Mutation_p.E307V|GSDMD_uc003yyh.2_Missense_Mutation_p.E238V NM_024736 NP_079012 P57764 GSDMD_HUMAN gasdermin D 307 0 TTGGACAGAGAGCTGTGCCAG 0.677 NA 24 50 0 0 0 0 RECQL4 9401 broad.mit.edu 37 8 145737627 145737627 + Missense_Mutation SNP C C G TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr8:145737627C>G uc003zdj.2 - 19 3168 c.3136G>C c.(3136-3138)GAG>CAG p.E1046Q NM_004260 NP_004251 O94761 RECQ4_HUMAN RecQ protein-like 4 1046 DNA duplex unwinding|DNA recombination|DNA repair cytoplasm|nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding breast(2)|lung(1)|skin(1) 4 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) TCCTTCTCCTCAGCGGTCAAG 0.637 NA N|F|S osteosarcoma|skin basal and sqamous cell Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome 10 42 0 0 0 0 CDKN2A 1029 broad.mit.edu 37 9 21970900 21970901 + Splice_Site DNP CC CC TT rs45476696 TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr9:21970900_21970901CC>TT uc003zpk.2 - 2 669 c.457_splice c.e2+1 p.D153_splice MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Splice_Site|CDKN2A_uc010miu.2_Splice_Site|CDKN2A_uc003zpl.2_Splice_Site NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.?(22)|p.D153Y(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TCAGTCCTCACCTGAGGGACCT 0.599 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 8 40 0 0 0 0 PRUNE2 158471 broad.mit.edu 37 9 79325493 79325493 + Missense_Mutation SNP T T C TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr9:79325493T>C uc010mpk.2 - 8 1821 c.1697A>G c.(1696-1698)CAT>CGT p.H566R NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 566 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 CTCCTCATCATGTTCCACAAG 0.473 NA 23 35 0 0 0 0 MUSK 4593 broad.mit.edu 37 9 113562840 113562840 + Missense_Mutation SNP A A C TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr9:113562840A>C uc004bey.2 + 14 2280 c.2182A>C c.(2182-2184)ACC>CCC p.T728P MUSK_uc004bez.1_Missense_Mutation_p.T308P NM_005592 NP_005583 O15146 MUSK_HUMAN skeletal muscle receptor tyrosine kinase 728 Protein kinase.|Cytoplasmic (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(3)|ovary(2)|central_nervous_system(1) 6 AGATTTAGCCACCAGGAACTG 0.522 NA 81 323 0 0 0 0 NR6A1 2649 broad.mit.edu 37 9 127289143 127289143 + Silent SNP G G A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr9:127289143G>A uc004bor.1 - 8 1294 c.1116C>T c.(1114-1116)CTC>CTT p.L372L NR6A1_uc004boq.1_Silent_p.L367L|NR6A1_uc010mwq.1_Silent_p.L368L NM_033334 NP_201591 Q15406 NR6A1_HUMAN nuclear receptor subfamily 6, group A, member 1 372 cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis transcription factor complex protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(3) 3 AGAGGTAGATGAGCCGCTCGA 0.493 NA 11 146 0 0 0 0 ZBTB43 23099 broad.mit.edu 37 9 129595320 129595320 + Missense_Mutation SNP G G C TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr9:129595320G>C uc004bql.2 + 3 805 c.532G>C c.(532-534)GAG>CAG p.E178Q ZBTB43_uc010mxf.2_Missense_Mutation_p.E178Q NM_014007 NP_054726 O43298 ZBT43_HUMAN zinc finger and BTB domain containing 43 178 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TGAAAATGAAGAGGAGAGCAC 0.532 NA 7 64 0 0 0 0 RALGPS1 9649 broad.mit.edu 37 9 129937010 129937010 + Missense_Mutation SNP G G A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr9:129937010G>A uc004bqo.1 + 11 1126 c.859G>A c.(859-861)GAA>AAA p.E287K RALGPS1_uc011mab.1_Missense_Mutation_p.E287K|RALGPS1_uc011mac.1_Missense_Mutation_p.E287K|RALGPS1_uc004bqq.3_Missense_Mutation_p.E287K NM_014636 NP_055451 Q5JS13 RGPS1_HUMAN Ral GEF with PH domain and SH3 binding motif 1 287 Ras-GEF. small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity ovary(1) 1 GCTCAGAATCGAACCAGGAAG 0.463 NA 14 190 0 0 0 0 FAM73B 84895 broad.mit.edu 37 9 131830488 131830488 + Missense_Mutation SNP G G A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr9:131830488G>A uc004bxa.2 + 13 1467 c.1281G>A c.(1279-1281)ATG>ATA p.M427I FAM73B_uc004bwy.2_RNA|FAM73B_uc004bwz.2_RNA|FAM73B_uc011mbn.1_Missense_Mutation_p.M427I|FAM73B_uc004bxb.2_5'Flank NM_032809 NP_116198 Q7L4E1 FA73B_HUMAN hypothetical protein LOC84895 427 integral to membrane skin(1) 1 TGGTATGCATGAGCTTCTTCG 0.647 NA 33 151 0 0 0 0 BARHL1 56751 broad.mit.edu 37 9 135462894 135462894 + Silent SNP C C T TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr9:135462894C>T uc004cbp.1 + 2 837 c.645C>T c.(643-645)CTC>CTT p.L215L NM_020064 NP_064448 Q9BZE3 BARH1_HUMAN BarH-like homeobox 1 215 Homeobox. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05) CCGCCTCGCTCAACCTCACCG 0.647 NA 4 22 0 0 0 0 VAV2 7410 broad.mit.edu 37 9 136671217 136671217 + Silent SNP G G A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr9:136671217G>A uc004ces.2 - 9 868 c.822C>T c.(820-822)CTC>CTT p.L274L VAV2_uc004cer.2_Silent_p.L269L NM_001134398 NP_001127870 P52735 VAV2_HUMAN vav 2 guanine nucleotide exchange factor isoform 274 DH. angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol metal ion binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(3)|ovary(2)|lung(2)|breast(1) 8 OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06) CCTTGAAATCGAGGAAGACCT 0.587 NA 4 36 0 0 0 0 KIAA1984 84960 broad.mit.edu 37 9 139701235 139701235 + Silent SNP C C T TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr9:139701235C>T uc004cjf.2 + 12 1353 c.1305C>T c.(1303-1305)CTC>CTT p.L435L C9orf86_uc004cjm.2_5'Flank|C9orf86_uc004cjh.2_5'Flank|C9orf86_uc004cjj.1_5'Flank|C9orf86_uc004cjk.1_5'Flank|C9orf86_uc004cji.1_5'Flank|C9orf86_uc010nbr.1_5'Flank|LOC100131193_uc004cjg.1_Intron NM_001039374 NP_001034463 Q5T5S1 K1984_HUMAN hypothetical protein LOC84960 435 ovary(1) 1 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124) CCAACACCCTCGATTTGAACA 0.632 NA 4 80 0 0 0 0 PHEX 5251 broad.mit.edu 37 X 22095598 22095598 + Silent SNP G G A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chrX:22095598G>A uc004dah.2 + 5 644 c.441G>A c.(439-441)GCG>GCA p.A147A PHEX_uc011mjr.1_Silent_p.A147A|PHEX_uc011mjs.1_Silent_p.A50A NM_000444 NP_000435 P78562 PHEX_HUMAN phosphate-regulating neutral endopeptidase 147 Extracellular (Potential). biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development integral to plasma membrane aminopeptidase activity|metalloendopeptidase activity|zinc ion binding ovary(2)|lung(1) 3 TTTCAGAAGCGATTGAAAAAG 0.438 NA 25 59 0 0 0 0 FUBP1 8880 broad.mit.edu 37 1 78444669 78444676 + Frame_Shift_Del DEL ACTGTTGA ACTGTTGA - rs139086388 byFrequency TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr1:78444669_78444676delACTGTTGA uc001dii.2 - 1 102_109 c.13_20delTCAACAGT c.(13-21)TCAACAGTGfs p.S5fs FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Frame_Shift_Del_p.S5fs|DNAJB4_uc010orn.1_5'Flank NM_003902 NP_003893 Q96AE4 FUBP1_HUMAN far upstream element-binding protein 5_7 transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(2)|lung(1) 3 GGGGGGAGGCACTGTTGAATAGTCTGCC 0.462 NA 15 49 --- --- --- --- NA NA NA NA OR4S1 256148 broad.mit.edu 37 11 48328525 48328525 + Frame_Shift_Del DEL C C - TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr11:48328525delC uc010rhu.1 + 1 751 c.751delC c.(751-753)CCCfs p.P251fs NM_001004725 NP_001004725 Q8NGB4 OR4S1_HUMAN olfactory receptor, family 4, subfamily S, 251 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GGTTCTCATGCCCCCCATGTT 0.483 NA 27 138 --- --- --- --- NA NA NA NA TP53 7157 broad.mit.edu 37 17 7578506 7578514 + In_Frame_Del DEL GGCAGGTCT GGCAGGTCT - TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr17:7578506_7578514delGGCAGGTCT uc002gim.2 - 5 610_618 c.416_424delAGACCTGCC c.(415-426)AAGACCTGCCCT>ACT p.139_142KTCP>T TP53_uc002gig.1_In_Frame_Del_p.139_142KTCP>T|TP53_uc002gih.2_In_Frame_Del_p.139_142KTCP>T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_In_Frame_Del_p.7_10KTCP>T|TP53_uc010cng.1_In_Frame_Del_p.7_10KTCP>T|TP53_uc002gii.1_In_Frame_Del_p.7_10KTCP>T|TP53_uc010cnh.1_In_Frame_Del_p.139_142KTCP>T|TP53_uc010cni.1_In_Frame_Del_p.139_142KTCP>T|TP53_uc002gij.2_In_Frame_Del_p.139_142KTCP>T|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_In_Frame_Del_p.46_49KTCP>T|TP53_uc002gio.2_In_Frame_Del_p.7_10KTCP>T|TP53_uc010vug.1_In_Frame_Del_p.100_103KTCP>T NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 139_142 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> R (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C141Y(61)|p.T140I(12)|p.C141*(11)|p.C141R(10)|p.C141W(10)|p.K139N(8)|p.K139K(7)|p.0?(7)|p.T140T(6)|p.K139fs*31(4)|p.C141C(4)|p.C141F(4)|p.K139fs*9(3)|p.C141fs*29(3)|p.K139Q(2)|p.K139R(2)|p.K139E(2)|p.P142F(2)|p.P142A(2)|p.P142T(2)|p.P142S(2)|p.N131fs*27(2)|p.C141S(2)|p.P142fs*28(2)|p.C141fs*8(2)|p.K139*(2)|p.K139T(1)|p.L137_W146del10(1)|p.P142_Q144delPVQ(1)|p.K139fs*4(1)|p.F134_T140>S(1)|p.T140fs*9(1)|p.C141fs*34(1)|p.C141fs*30(1)|p.A138_V143delAKTCPV(1)|p.T140N(1)|p.K139fs*11(1)|p.K139fs*10(1)|p.T140fs*30(1)|p.A138_P142delAKTCP(1)|p.C135_T140delCQLAKT(1)|p.Q136_K139delQLAK(1)|p.C141A(1)|p.C141G(1)|p.C141_P142insXX(1)|p.K139_C141>N(1)|p.K139fs*29(1)|p.C141fs*5(1)|p.P142del(1)|p.P142fs*7(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) AGCTGCACAGGGCAGGTCTTGGCCAGTTG 0.569 111 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) 8 44 --- --- --- --- NA NA NA NA TAF9 6880 broad.mit.edu 37 5 68660786 68660806 + In_Frame_Del DEL TCATCATCATCATCATCGTCA TCATCATCATCATCATCGTCA - rs149295876 TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf975479-131b-4b37-927e-cacb1f13e62d 8ad8ae9f-d5e1-4520-bd9a-7f91284489e5 g.chr5:68660786_68660806delTCATCATCATCATCATCGTCA uc003jwc.1 - 2 1091_1111 c.759_779delTGACGATGATGATGATGATGA c.(757-780)GATGACGATGATGATGATGATGAC>GAC p.253_260DDDDDDDD>D TAF9_uc003jwa.2_Intron|TAF9_uc003jwb.2_Intron|TAF9_uc003jwd.1_In_Frame_Del_p.253_260DDDDDDDD>D|TAF9_uc003jwe.1_In_Frame_Del_p.253_260DDDDDDDD>D|TAF9_uc003jwf.1_In_Frame_Del_p.253_260DDDDDDDD>D NM_003187 NP_003178 Q16594 TAF9_HUMAN TAF9 RNA polymerase II, TATA box binding 253_260 Poly-Asp. histone H3 acetylation|negative regulation of apoptosis|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of cell growth|positive regulation of response to cytokine stimulus|positive regulation of transcription from RNA polymerase II promoter|response to interleukin-1|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction MLL1 complex|PCAF complex|pre-snoRNP complex|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex activating transcription factor binding|C2H2 zinc finger domain binding|p53 binding|transcription coactivator activity|transcription regulatory region DNA binding 0 Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176) attatcatagtcatcatcatcatcatcgtcatcatcatcat 0.262 NA 7 82 --- --- --- --- NA NA NA NA