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 PRDM2 7799 broad.mit.edu 37 1 14108768 14108768 + Missense_Mutation SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr1:14108768C>T uc001avi.2 + 8 5334 c.4478C>T c.(4477-4479)TCA>TTA p.S1493L PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.S1493L|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.S1292L|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron NM_012231 NP_036363 Q13029 PRDM2_HUMAN retinoblastoma protein-binding zinc finger 1493 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) GTTTCTCATTCATCTAAGAAA 0.448 NA 56 161 0 0 0 0 CROCC 9696 broad.mit.edu 37 1 17275397 17275397 + Silent SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr1:17275397C>T uc001azt.2 + 19 2881 c.2812C>T c.(2812-2814)CTG>TTG p.L938L CROCC_uc009voz.1_Intron|CROCC_uc001azu.2_Silent_p.L241L NM_014675 NP_055490 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil 938 Potential. cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity ovary(2)|breast(2)|central_nervous_system(1) 5 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) GCAGGCCCTGCTGCTGGCCAA 0.677 NA 5 67 0 0 0 0 DOCK7 85440 broad.mit.edu 37 1 63027299 63027299 + Missense_Mutation SNP T T C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr1:63027299T>C uc001daq.2 - 19 2222 c.2188A>G c.(2188-2190)ATC>GTC p.I730V DOCK7_uc001dan.2_Missense_Mutation_p.I622V|DOCK7_uc001dao.2_Missense_Mutation_p.I622V|DOCK7_uc001dap.2_Missense_Mutation_p.I730V NM_033407 NP_212132 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 730 DHR-1. activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding ovary(2) 2 TGTGTATGGATAGACGAAACA 0.294 NA 39 66 0 0 0 0 COL11A1 1301 broad.mit.edu 37 1 103474059 103474059 + Nonsense_Mutation SNP G G T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr1:103474059G>T uc001dul.2 - 15 1961 c.1643C>A c.(1642-1644)TCA>TAA p.S548* COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Nonsense_Mutation_p.S560*|COL11A1_uc001dun.2_Nonsense_Mutation_p.S509*|COL11A1_uc009weh.2_Nonsense_Mutation_p.S432* NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 548 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GGCCCCAGATGAACCAGGCCC 0.299 NA 14 36 1.36e-06 1.67e-06 1 0 ATP1A1 476 broad.mit.edu 37 1 116927412 116927412 + Missense_Mutation SNP A A G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr1:116927412A>G uc001ege.2 + 3 470 c.131A>G c.(130-132)CAT>CGT p.H44R ATP1A1_uc010owv.1_Missense_Mutation_p.H13R|ATP1A1_uc001egd.2_Missense_Mutation_p.H44R|ATP1A1_uc010oww.1_Missense_Mutation_p.H44R|ATP1A1_uc010owx.1_Missense_Mutation_p.H13R NM_000701 NP_000692 P05023 AT1A1_HUMAN Na+/K+ -ATPase alpha 1 subunit isoform a 44 Cytoplasmic (Potential). ATP biosynthetic process melanosome|sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity ovary(1) 1 Lung SC(450;0.225) all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24) Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021) TAGGATGATCATAAACTTAGC 0.313 NA 22 39 0 0 0 0 SMG5 23381 broad.mit.edu 37 1 156243195 156243195 + Silent SNP G G A rs151161240 byFrequency TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr1:156243195G>A uc001foc.3 - 6 740 c.591C>T c.(589-591)GCC>GCT p.A197A NM_015327 NP_056142 Q9UPR3 SMG5_HUMAN SMG5 homolog nonsense mediated mRNA decay 197 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding ovary(2)|skin(2)|pancreas(1) 5 Hepatocellular(266;0.158) AAAATCTCTCGGCTAGCAGCT 0.468 NA 19 32 0 0 0 0 GORAB 92344 broad.mit.edu 37 1 170508524 170508524 + Missense_Mutation SNP C C A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr1:170508524C>A uc001gha.2 + 2 337 c.310C>A c.(310-312)CCT>ACT p.P104T GORAB_uc009wvw.2_3'UTR|GORAB_uc001ggz.3_Missense_Mutation_p.P104T|GORAB_uc009wvx.2_5'UTR|GORAB_uc001ghb.2_5'UTR|GORAB_uc001ghc.2_5'UTR NM_152281 NP_689494 Q5T7V8 GORAB_HUMAN golgin, RAB6-interacting isoform a 104 Golgi apparatus|nucleus 0 TCAAAAACCACCTTTTTCTTC 0.473 NA 16 43 0.000308642 0.000362379 1 0 C1orf129 80133 broad.mit.edu 37 1 170965783 170965783 + Silent SNP T T C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr1:170965783T>C uc001ghg.2 + 14 1603 c.1473T>C c.(1471-1473)GCT>GCC p.A491A C1orf129_uc009wvy.2_Silent_p.A298A|C1orf129_uc010plz.1_Silent_p.A491A NM_025063 NP_079339 Q5TGP6 CA129_HUMAN hypothetical protein LOC80133 isoform 2 491 binding pancreas(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GCTTTATTGCTAAGTAAGAAC 0.428 NA 4 136 0 0 0 0 STX6 10228 broad.mit.edu 37 1 180959168 180959168 + Silent SNP G G C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr1:180959168G>C uc010pnq.1 - 5 678 c.441C>G c.(439-441)CTC>CTG p.L147L STX6_uc001goo.2_Silent_p.L147L|STX6_uc010pnr.1_Silent_p.L46L NM_005819 NP_005810 O43752 STX6_HUMAN syntaxin 6 147 Cytoplasmic (Potential). Golgi vesicle transport|intracellular protein transport|vesicle fusion clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane SNAP receptor activity ovary(1) 1 TGGCTCTCTGGAGCTCTCGGT 0.557 NA 48 66 0 0 0 0 KLHDC8A 55220 broad.mit.edu 37 1 205306715 205306715 + Nonsense_Mutation SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr1:205306715G>A uc001hcf.1 - 6 1433 c.865C>T c.(865-867)CAA>TAA p.Q289* KLHDC8A_uc010prg.1_Nonsense_Mutation_p.Q176*|KLHDC8A_uc001hcg.1_Nonsense_Mutation_p.Q289* NM_018203 NP_060673 Q8IYD2 KLD8A_HUMAN kelch domain containing 8A 289 Kelch 7. ovary(1) 1 Breast(84;0.23) BRCA - Breast invasive adenocarcinoma(75;0.117) ACAGTGGGTTGATTCCCTGAA 0.587 NA 45 51 0 0 0 0 INTS7 25896 broad.mit.edu 37 1 212120048 212120048 + Splice_Site SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr1:212120048C>T uc001hiw.1 - 18 2422 c.2317_splice c.e18-1 p.H773_splice INTS7_uc009xdb.1_Intron|INTS7_uc001hix.1_Splice_Site_p.H649_splice|INTS7_uc001hiy.1_Splice_Site_p.H759_splice|INTS7_uc010pta.1_Splice_Site_p.H724_splice NM_015434 NP_056249 Q9NVH2 INT7_HUMAN integrator complex subunit 7 snRNA processing integrator complex protein binding 0 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) ATGCTGTGTGCTGGGGGAAAA 0.348 NA 3 58 0 0 0 0 SPHAR 10638 broad.mit.edu 37 1 229440922 229440922 + Missense_Mutation SNP A A G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr1:229440922A>G uc001htk.3 + 1 794 c.41A>G c.(40-42)TAT>TGT p.Y14C NM_006542 NP_006533 Q15513 SPHAR_HUMAN S-phase response (cyclin-related) 14 DNA replication 0 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.167) TGTTTTAGATATTTTGAGTTT 0.299 NA 26 32 0 0 0 0 OR2G3 81469 broad.mit.edu 37 1 247769130 247769130 + Silent SNP C C G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr1:247769130C>G uc010pyz.1 + 1 243 c.243C>G c.(241-243)ACC>ACG p.T81T NM_001001914 NP_001001914 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, 81 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) CTCCTCAGACCTTAGTTAACT 0.458 NA 120 194 0 0 0 0 OR2G6 391211 broad.mit.edu 37 1 248684984 248684984 + Missense_Mutation SNP C C G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr1:248684984C>G uc001ien.1 + 1 37 c.37C>G c.(37-39)CTT>GTT p.L13V NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, 13 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AAAGGGATTTCTTCTCCTGGG 0.423 NA 44 75 0 0 0 0 SH3BP5L 80851 broad.mit.edu 37 1 249107242 249107242 + Silent SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr1:249107242G>A uc001iew.1 - 6 1209 c.657C>T c.(655-657)ATC>ATT p.I219I SH3BP5L_uc010pzp.1_Silent_p.I112I|SH3BP5L_uc010pzq.1_Silent_p.I187I|SH3BP5L_uc001iev.1_Silent_p.I100I NM_030645 NP_085148 Q7L8J4 3BP5L_HUMAN SH3-binding domain protein 5-like 219 Potential. 0 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) GGCTCTTGCCGATGGCCCTCC 0.652 NA 25 43 0 0 0 0 PCDH15 65217 broad.mit.edu 37 10 55568819 55568819 + Missense_Mutation SNP C C G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr10:55568819C>G uc010qhs.1 - 37 5401 c.5006G>C c.(5005-5007)AGA>ACA p.R1669T PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qht.1_Missense_Mutation_p.R1662T|PCDH15_uc010qhu.1_3'UTR NM_001142769 NP_001136241 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD2-1 precursor Error:Variant_position_missing_in_Q96QU1_after_alignment equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) CATGGGCCTTCTTCTTGCAAG 0.348 NA HNSCC(58;0.16) 11 25 0 0 0 0 LCOR 84458 broad.mit.edu 37 10 98714920 98714920 + Missense_Mutation SNP G G C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr10:98714920G>C uc001kms.1 + 8 1064 c.543G>C c.(541-543)CAG>CAC p.Q181H LCOR_uc001kmr.2_Missense_Mutation_p.Q181H|C10orf12_uc009xvg.1_Intron|LCOR_uc001kmt.1_Missense_Mutation_p.Q181H|LCOR_uc001kmu.1_Missense_Mutation_p.Q181H NM_032440 NP_115816 Q96JN0 LCOR_HUMAN ligand dependent nuclear receptor corepressor 181 nucleus DNA binding ovary(3) 3 Colorectal(252;0.162) Epithelial(162;4.43e-09)|all cancers(201;2.96e-07) CTGGATTACAGAATCATGGAC 0.478 NA 24 34 0 0 0 0 OR51G1 79324 broad.mit.edu 37 11 4945555 4945555 + Silent SNP A A C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr11:4945555A>C uc010qyr.1 - 1 15 c.15T>G c.(13-15)CTT>CTG p.L5L NM_001005237 NP_001005237 Q8NGK1 O51G1_HUMAN olfactory receptor, family 51, subfamily G, 5 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GGCTGCTATTAAGAAGAATTG 0.438 NA 31 12 0 0 0 0 HPX 3263 broad.mit.edu 37 11 6453230 6453230 + Missense_Mutation SNP G G C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr11:6453230G>C uc001mdg.2 - 8 914 c.853C>G c.(853-855)CTG>GTG p.L285V HPX_uc001mdf.2_Missense_Mutation_p.L31V|HPX_uc009yfc.2_RNA NM_000613 NP_000604 P02790 HEMO_HUMAN hemopexin precursor 285 Hemopexin-like 4. cellular iron ion homeostasis|interspecies interaction between organisms extracellular space heme transporter activity|metal ion binding|protein binding 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19) CTGGTGTCCAGACGCCAGTAG 0.567 NA 66 31 0 0 0 0 GTF2H1 2965 broad.mit.edu 37 11 18369136 18369136 + Missense_Mutation SNP G G T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr11:18369136G>T uc001moi.2 + 9 1533 c.839G>T c.(838-840)GGC>GTC p.G280V GTF2H1_uc001moh.2_Missense_Mutation_p.G280V|GTF2H1_uc009yhm.2_Missense_Mutation_p.G164V|GTF2H1_uc001moj.2_5'UTR NM_001142307 NP_001135779 P32780 TF2H1_HUMAN general transcription factor IIH, polypeptide 1, 280 mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex protein binding 0 ttCTCACAGGGCTATGGCATT 0.343 NA NER 10 23 7.48e-07 9.2e-07 1 0 LRP4 4038 broad.mit.edu 37 11 46900527 46900527 + Missense_Mutation SNP G G C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr11:46900527G>C uc001ndn.3 - 22 3213 c.3067C>G c.(3067-3069)CCA>GCA p.P1023A NM_002334 NP_002325 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 1023 Extracellular (Potential). endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Lung(87;0.159) AATCCGCTTGGATTTGGGGAC 0.537 NA 117 125 0 0 0 0 OR5W2 390148 broad.mit.edu 37 11 55681486 55681486 + Missense_Mutation SNP A A T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr11:55681486A>T uc010rir.1 - 1 573 c.573T>A c.(571-573)GAT>GAA p.D191E NM_001001960 NP_001001960 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, 191 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TGACCTGTGTATCTGAGCGAG 0.383 NA 10 68 0 0 0 0 SMTNL1 219537 broad.mit.edu 37 11 57310543 57310543 + Missense_Mutation SNP A A T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr11:57310543A>T uc009ymh.1 + 2 482 c.482A>T c.(481-483)GAG>GTG p.E161V NM_001105565 NP_001099035 E9PPJ3 E9PPJ3_HUMAN smoothelin-like 1 143 ovary(1) 1 GAGGAGAAAGAGGCCAAACCT 0.532 NA 4 18 0 0 0 0 C11orf84 144097 broad.mit.edu 37 11 63594564 63594564 + Missense_Mutation SNP T T G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr11:63594564T>G uc001nxt.2 + 6 1335 c.1099T>G c.(1099-1101)TCC>GCC p.S367A C11orf84_uc001nxu.1_RNA NM_138471 NP_612480 Q9BUA3 CK084_HUMAN hypothetical protein LOC144097 367 0 TCTGTCAGAATCCAGCACCAC 0.617 NA 11 44 0 0 0 0 RELA 5970 broad.mit.edu 37 11 65425831 65425831 + Silent SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr11:65425831G>A uc001ofg.2 - 8 944 c.804C>T c.(802-804)GTC>GTT p.V268V RELA_uc001ofh.2_Silent_p.V265V|RELA_uc010ron.1_Silent_p.V279V|RELA_uc009yqr.2_Silent_p.V215V|RELA_uc001ofe.2_Silent_p.V268V|RELA_uc001off.2_Silent_p.V268V|RELA_uc009yqs.1_Intron NM_021975 NP_068810 Q04206 TF65_HUMAN v-rel reticuloendotheliosis viral oncogene 268 RHD. anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|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 cytosol|transcription factor complex activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding lung(3)|ovary(1) 4 GCTGCATGGAGACACGCACAG 0.627 NA 25 43 0 0 0 0 CATSPER1 117144 broad.mit.edu 37 11 65792826 65792826 + Missense_Mutation SNP G G T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr11:65792826G>T uc001ogt.2 - 1 1163 c.1025C>A c.(1024-1026)GCT>GAT p.A342D NM_053054 NP_444282 Q8NEC5 CTSR1_HUMAN sperm-associated cation channel 1 342 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding ovary(2) 2 ACGAGAAGCAGCAGGGCCGGG 0.587 NA 30 44 1.31e-18 1.7e-18 1 0 SHANK2 22941 broad.mit.edu 37 11 70333469 70333469 + Missense_Mutation SNP A A C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr11:70333469A>C uc001oqc.2 - 21 3007 c.2929T>G c.(2929-2931)TTC>GTC p.F977V SHANK2_uc010rqn.1_Missense_Mutation_p.F389V|SHANK2_uc001opz.2_Missense_Mutation_p.F382V|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 598 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) TTGTTGCGGAAGTTGGCTTGC 0.587 NA 46 724 0 0 0 0 ARAP1 116985 broad.mit.edu 37 11 72415374 72415374 + Missense_Mutation SNP G G C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr11:72415374G>C uc001osu.2 - 14 2004 c.1815C>G c.(1813-1815)TTC>TTG p.F605L ARAP1_uc001osv.2_Missense_Mutation_p.F605L|ARAP1_uc001osr.2_Missense_Mutation_p.F365L|ARAP1_uc001oss.2_Missense_Mutation_p.F360L|ARAP1_uc009yth.2_Intron|ARAP1_uc010rre.1_Missense_Mutation_p.F360L|ARAP1_uc001osw.1_5'Flank NM_001040118 NP_001035207 Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 605 Arf-GAP. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding skin(1) 1 CCAGCTGTAAGAAGAGCTGTG 0.667 NA 11 56 0 0 0 0 PCF11 51585 broad.mit.edu 37 11 82878338 82878338 + Silent SNP A A G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr11:82878338A>G uc001ozx.3 + 6 2334 c.1989A>G c.(1987-1989)GAA>GAG p.E663E PCF11_uc010rsu.1_Silent_p.E663E NM_015885 NP_056969 O94913 PCF11_HUMAN pre-mRNA cleavage complex II protein Pcf11 663 mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex ovary(1) 1 GCAAAAGAGAATTACTTCAAA 0.313 NA 12 35 0 0 0 0 PICALM 8301 broad.mit.edu 37 11 85718613 85718613 + Missense_Mutation SNP T T C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr11:85718613T>C uc001pbm.2 - 8 1065 c.779A>G c.(778-780)GAC>GGC p.D260G PICALM_uc001pbl.2_Missense_Mutation_p.D260G|PICALM_uc001pbn.2_Missense_Mutation_p.D260G|PICALM_uc010rtl.1_Missense_Mutation_p.D209G|PICALM_uc001pbo.1_5'UTR NM_007166 NP_009097 Q13492 PICAL_HUMAN phosphatidylinositol-binding clathrin assembly 260 clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane 1-phosphatidylinositol binding|clathrin heavy chain binding urinary_tract(1)|ovary(1) 2 Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092) ATCACCTCTGTCAATTCCAAC 0.289 NA T MLLT10|MLL TALL|AML| 3 96 0 0 0 0 TAF1D 79101 broad.mit.edu 37 11 93472441 93472441 + Missense_Mutation SNP G G C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr11:93472441G>C uc001ped.2 - 2 232 c.30C>G c.(28-30)GAC>GAG p.D10E TAF1D_uc001pdz.2_RNA|TAF1D_uc001pea.1_RNA|C11orf54_uc001pee.1_5'Flank|C11orf54_uc001pef.2_5'Flank|C11orf54_uc009ywi.2_5'Flank|C11orf54_uc001peg.2_5'Flank|C11orf54_uc001peh.2_5'Flank|C11orf54_uc001pei.2_5'Flank NM_024116 NP_077021 Q9H5J8 TAF1D_HUMAN TATA box binding protein (TBP)-associated 10 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding 0 ATGTCACATGGTCAAGAGAAT 0.308 NA 14 69 0 0 0 0 CNTN5 53942 broad.mit.edu 37 11 99715973 99715973 + Missense_Mutation SNP G G C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr11:99715973G>C uc001pga.2 + 6 895 c.556G>C c.(556-558)GAA>CAA p.E186Q CNTN5_uc009ywv.1_Missense_Mutation_p.E186Q|CNTN5_uc001pfz.2_Missense_Mutation_p.E186Q|CNTN5_uc001pgb.2_Missense_Mutation_p.E112Q NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 186 Ig-like C2-type 1. cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) TCTTAGTAGAGAAGCTACACT 0.338 NA 38 362 0 0 0 0 PDGFD 80310 broad.mit.edu 37 11 103870957 103870957 + Nonsense_Mutation SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr11:103870957G>A uc001phq.2 - 2 523 c.151C>T c.(151-153)CGA>TGA p.R51* PDGFD_uc001php.2_Nonsense_Mutation_p.R45* NM_025208 NP_079484 Q9GZP0 PDGFD_HUMAN platelet derived growth factor D isoform 1 51 positive regulation of cell division endoplasmic reticulum lumen|extracellular region|Golgi membrane growth factor activity upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165) BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111) TCATCTCTTCGGTACAAGTCT 0.458 NA 25 353 0 0 0 0 DSCAML1 57453 broad.mit.edu 37 11 117387378 117387378 + Silent SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr11:117387378G>A uc001prh.1 - 8 1769 c.1767C>T c.(1765-1767)ATC>ATT p.I589I NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 529 Extracellular (Potential).|Ig-like C2-type 6. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) AGGGATAGCCGATGACCCTGC 0.592 NA 7 23 0 0 0 0 TECTA 7007 broad.mit.edu 37 11 121000847 121000847 + Silent SNP T T G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr11:121000847T>G uc010rzo.1 + 9 2868 c.2868T>G c.(2866-2868)TCT>TCG p.S956S NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 956 cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) TCTGTGACTCTGTGGCCCGGT 0.602 NA 21 43 0 0 0 0 SOX5 6660 broad.mit.edu 37 12 23716248 23716248 + Missense_Mutation SNP C C G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr12:23716248C>G uc001rfw.2 - 11 1534 c.1432G>C c.(1432-1434)GAT>CAT p.D478H SOX5_uc001rfx.2_Missense_Mutation_p.D465H|SOX5_uc001rfy.2_Intron|SOX5_uc001rfv.2_Missense_Mutation_p.D92H|SOX5_uc010siv.1_Missense_Mutation_p.D465H|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.D430H NM_006940 NP_008871 P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 isoform a 478 Potential. transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(5)|lung(1) 6 ACCTTCCCATCAAGCACCTGT 0.418 NA 38 49 0 0 0 0 TMEM117 84216 broad.mit.edu 37 12 44537363 44537363 + Missense_Mutation SNP A A G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr12:44537363A>G uc001rod.2 + 4 512 c.446A>G c.(445-447)AAT>AGT p.N149S TMEM117_uc001roe.2_Intron|TMEM117_uc009zkc.2_Missense_Mutation_p.N149S NM_032256 NP_115632 Q9H0C3 TM117_HUMAN transmembrane protein 117 149 endoplasmic reticulum|integral to membrane 0 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.124) GGCATCCGAAATGAAAGTTTC 0.408 NA 20 36 0 0 0 0 CCT2 10576 broad.mit.edu 37 12 69986801 69986801 + Missense_Mutation SNP G G C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr12:69986801G>C uc001svb.1 + 9 890 c.796G>C c.(796-798)GAA>CAA p.E266Q CCT2_uc009zrm.1_RNA|CCT2_uc009zrn.1_Missense_Mutation_p.E266Q|CCT2_uc010stl.1_Missense_Mutation_p.E219Q NM_006431 NP_006422 P78371 TCPB_HUMAN chaperonin containing TCP1, subunit 2 266 'de novo' posttranslational protein folding nucleus ATP binding|unfolded protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) AAAGGTTGCAGAAATAGAACA 0.328 NA 13 35 0 0 0 0 TRHDE 29953 broad.mit.edu 37 12 72667201 72667201 + Missense_Mutation SNP C C A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr12:72667201C>A uc001sxa.2 + 1 673 c.643C>A c.(643-645)CAG>AAG p.Q215K LOC283392_uc010stv.1_5'UTR NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 215 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 CCCGCAAACCCAGGTCTTAGT 0.572 NA 28 34 1.75e-13 2.25e-13 1 0 SLC6A15 55117 broad.mit.edu 37 12 85266514 85266514 + Missense_Mutation SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr12:85266514G>A uc001szv.2 - 8 1662 c.1169C>T c.(1168-1170)CCC>CTC p.P390L SLC6A15_uc010sul.1_Missense_Mutation_p.P283L|SLC6A15_uc001szw.1_Missense_Mutation_p.P98L NM_182767 NP_877499 Q9H2J7 S6A15_HUMAN solute carrier family 6, member 15 isoform 1 390 Extracellular (Potential). cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity pancreas(2)|ovary(1) 3 GATATGATGGGGAATAATATC 0.323 NA 3 37 0 0 0 0 KIAA1033 23325 broad.mit.edu 37 12 105556620 105556620 + Missense_Mutation SNP A A G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr12:105556620A>G uc001tld.2 + 30 3241 c.3154A>G c.(3154-3156)ATG>GTG p.M1052V KIAA1033_uc010swr.1_Missense_Mutation_p.M1053V|KIAA1033_uc010sws.1_Missense_Mutation_p.M864V NM_015275 NP_056090 Q2M389 WAHS7_HUMAN hypothetical protein LOC23325 1052 endosome transport WASH complex kidney(1)|central_nervous_system(1) 2 TGGCTTTGCCATGGGTAAGCT 0.308 NA 4 16 0 0 0 0 SH2B3 10019 broad.mit.edu 37 12 111886081 111886081 + Missense_Mutation SNP T T C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr12:111886081T>C uc001tse.2 + 8 2060 c.1703T>C c.(1702-1704)ATA>ACA p.I568T SH2B3_uc010syf.1_Missense_Mutation_p.I568T|SH2B3_uc001tsf.2_Missense_Mutation_p.I569T|SH2B3_uc010syg.1_Missense_Mutation_p.I366T NM_005475 NP_005466 Q9UQQ2 SH2B3_HUMAN SH2B adaptor protein 3 568 blood coagulation cytosol signal transducer activity ovary(1) 1 CTGCGGGCCATAGACAATCAG 0.562 NA 6 10 0 0 0 0 TAOK3 51347 broad.mit.edu 37 12 118650751 118650751 + Nonsense_Mutation SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr12:118650751G>A uc001twx.2 - 11 1082 c.787C>T c.(787-789)CAG>TAG p.Q263* TAOK3_uc001tww.2_Nonsense_Mutation_p.Q93*|TAOK3_uc001twy.3_Nonsense_Mutation_p.Q263* NM_016281 NP_057365 Q9H2K8 TAOK3_HUMAN TAO kinase 3 263 Protein kinase. MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation mitochondrion|plasma membrane ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity lung(5)|central_nervous_system(1) 6 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGCCTTTCCTGAGGTATTTTC 0.348 NA 17 12 0 0 0 0 NCOR2 9612 broad.mit.edu 37 12 124821412 124821412 + Missense_Mutation SNP G G C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr12:124821412G>C uc010tay.1 - 40 6188 c.6032C>G c.(6031-6033)CCT>CGT p.P2011R NCOR2_uc010taz.1_Missense_Mutation_p.P1995R|NCOR2_uc010tax.1_Missense_Mutation_p.P122R NM_006312 NP_006303 Q9Y618 NCOR2_HUMAN nuclear receptor co-repressor 2 isoform 1 2012 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity skin(3)|ovary(1) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GGCGTGGTGAGGTGCGAGGTT 0.687 NA 18 16 0 0 0 0 NHLRC3 387921 broad.mit.edu 37 13 39621219 39621219 + Missense_Mutation SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr13:39621219G>A uc001uxc.2 + 6 1043 c.721G>A c.(721-723)GAT>AAT p.D241N NHLRC3_uc001uxd.2_Missense_Mutation_p.D174N|NHLRC3_uc001uxe.2_Missense_Mutation_p.D44N NM_001012754 NP_001012772 Q5JS37 NHLC3_HUMAN NHL repeat containing 3 isoform a 241 NHL 3. extracellular region skin(1) 1 Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114) all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128) CCAAGTATTTGATAAAGACAC 0.363 NA 53 25 0 0 0 0 KIAA0564 23078 broad.mit.edu 37 13 42293870 42293870 + Silent SNP C C T rs140209374 TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr13:42293870C>T uc001uyj.2 - 26 3043 c.2973G>A c.(2971-2973)CCG>CCA p.P991P KIAA0564_uc001uyk.2_Silent_p.P991P NM_015058 NP_055873 A3KMH1 K0564_HUMAN hypothetical protein LOC23078 isoform a 991 extracellular region ATP binding|ATPase activity ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1) 6 Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969) GACCTTCAGTCGGAAATTTCT 0.303 NA 28 14 0 0 0 0 ACIN1 22985 broad.mit.edu 37 14 23547373 23547373 + Missense_Mutation SNP T T C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr14:23547373T>C uc001wit.3 - 8 2612 c.2284A>G c.(2284-2286)ATT>GTT p.I762V ACIN1_uc001wis.3_Missense_Mutation_p.I444V|ACIN1_uc010akg.2_Missense_Mutation_p.I762V NM_014977 NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 762 apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding ovary(2)|large_intestine(1)|skin(1) 4 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) GTGTGATGAATTCTTTCTGAT 0.493 NA 68 106 0 0 0 0 NOVA1 4857 broad.mit.edu 37 14 26949229 26949229 + Missense_Mutation SNP C C A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr14:26949229C>A uc001wpy.2 - 3 719 c.401G>T c.(400-402)AGC>ATC p.S134I NOVA1_uc001wpz.2_Missense_Mutation_p.S134I|NOVA1_uc001wqa.2_Missense_Mutation_p.S12I|NOVA1_uc001wqb.2_Missense_Mutation_p.S134I NM_002515 NP_002506 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 isoform 1 137 locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1) 5 GBM - Glioblastoma multiforme(265;0.0135) TTGTAGAATGCTGACTGGTTC 0.418 NA 48 86 6.91e-35 9.14e-35 1 0 SYNE2 23224 broad.mit.edu 37 14 64494410 64494410 + Nonsense_Mutation SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr14:64494410C>T uc001xgm.2 + 43 6843 c.6613C>T c.(6613-6615)CAG>TAG p.Q2205* SYNE2_uc001xgl.2_Nonsense_Mutation_p.Q2205* NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 2205 Potential.|Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GTTAAAATCTCAGGGAAACTA 0.403 NA 25 38 0 0 0 0 AHNAK2 113146 broad.mit.edu 37 14 105415528 105415528 + Missense_Mutation SNP T T C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr14:105415528T>C uc010axc.1 - 7 6380 c.6260A>G c.(6259-6261)AAG>AGG p.K2087R AHNAK2_uc001ypx.2_Missense_Mutation_p.K1987R NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2087 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) CTGGGGGCCCTTGAGGTCCAC 0.612 NA 127 200 0 0 0 0 TRPM1 4308 broad.mit.edu 37 15 31294736 31294736 + Silent SNP T T C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr15:31294736T>C uc001zfm.2 - 27 4229 c.4101A>G c.(4099-4101)AGA>AGG p.R1367R TRPM1_uc010azy.2_Silent_p.R1274R|TRPM1_uc001zfl.2_RNA NM_002420 NP_002411 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, 1367 Cytoplasmic (Potential). cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) AGTCTGTCTGTCTTTCATCAT 0.378 NA 64 66 0 0 0 0 DUOX1 53905 broad.mit.edu 37 15 45434285 45434285 + Silent SNP C C T rs140249290 byFrequency TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr15:45434285C>T uc001zus.1 + 16 2143 c.1797C>T c.(1795-1797)ATC>ATT p.I599I DUOX1_uc001zut.1_Silent_p.I599I|DUOX1_uc010bee.1_5'UTR NM_017434 NP_059130 Q9NRD9 DUOX1_HUMAN dual oxidase 1 precursor 599 Helical; (Potential). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity ovary(5)|skin(2)|breast(1) 8 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) GGGTCACCATCGGGACCCTCT 0.557 NA 7 95 0 0 0 0 RASL12 51285 broad.mit.edu 37 15 65347288 65347288 + Missense_Mutation SNP G G T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr15:65347288G>T uc002aoi.1 - 5 965 c.750C>A c.(748-750)AGC>AGA p.S250R RASL12_uc002aoj.1_Missense_Mutation_p.S231R|RASL12_uc010uir.1_Missense_Mutation_p.S239R NM_016563 NP_057647 Q9NYN1 RASLC_HUMAN RAS-like, family 12 protein 250 small GTPase mediated signal transduction membrane GTP binding|GTPase activity skin(1) 1 CCTTGCGCTTGCTCTGGGCCC 0.627 NA OREG0023189 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 15 2.23e-06 2.71e-06 1 0 SH2D7 646892 broad.mit.edu 37 15 78390796 78390796 + Missense_Mutation SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr15:78390796C>T uc010blb.1 + 4 503 c.503C>T c.(502-504)CCA>CTA p.P168L NM_001101404 NP_001094874 A6NKC9 SH2D7_HUMAN SH2 domain containing 7 168 0 CCAGAAAACCCACCTGCCACG 0.607 NA 15 24 0 0 0 0 AEN 64782 broad.mit.edu 37 15 89173493 89173493 + Nonsense_Mutation SNP G G T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr15:89173493G>T uc002bmt.2 + 4 1097 c.946G>T c.(946-948)GGA>TGA p.G316* AEN_uc010bnm.1_Intron NM_022767 NP_073604 Q8WTP8 AEN_HUMAN interferon stimulated exonuclease gene 316 apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation nucleolus|nucleoplasm exonuclease activity|nucleic acid binding 0 CAGCAGAGGAGGAGCCAGGGA 0.647 NA 8 9 0.00448238 0.00517047 1 0 ADCY9 115 broad.mit.edu 37 16 4165167 4165167 + Missense_Mutation SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr16:4165167G>A uc002cvx.2 - 2 816 c.277C>T c.(277-279)CCC>TCC p.P93S NM_001116 NP_001107 O60503 ADCY9_HUMAN adenylate cyclase 9 93 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 TCGAACTTGGGGTCCCACCAG 0.706 NA 12 42 0 0 0 0 TFAP4 7023 broad.mit.edu 37 16 4308235 4308235 + Missense_Mutation SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr16:4308235C>T uc010uxg.1 - 7 1092 c.838G>A c.(838-840)GAG>AAG p.E280K NM_003223 NP_003214 Q01664 TFAP4_HUMAN transcription factor AP-4 (activating enhancer 280 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle transcriptional repressor complex E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity ovary(1) 1 TGGGTGCCCTCGATGTGCTGG 0.657 NA 18 30 0 0 0 0 GPRC5B 51704 broad.mit.edu 37 16 19871853 19871853 + Missense_Mutation SNP G G A rs147744945 TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr16:19871853G>A uc002dgt.2 - 4 1289 c.1181C>T c.(1180-1182)CCG>CTG p.P394L GPRC5B_uc010vav.1_Missense_Mutation_p.P420L NM_016235 NP_057319 Q9NZH0 GPC5B_HUMAN G protein-coupled receptor, family C, group 5, 394 Cytoplasmic (Potential). lung(1)|breast(1)|skin(1) 3 GTGACTTGGCGGAGCAGTTGG 0.448 NA 14 23 0 0 0 0 TNRC6A 27327 broad.mit.edu 37 16 24800634 24800634 + Missense_Mutation SNP A A T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr16:24800634A>T uc002dmm.2 + 6 785 c.671A>T c.(670-672)AAC>ATC p.N224I TNRC6A_uc010bxs.2_5'UTR|TNRC6A_uc010vcc.1_5'UTR|TNRC6A_uc002dmn.2_5'UTR|TNRC6A_uc002dmo.2_5'UTR NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 224 Ser-rich. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0394) TCTAGCACAAACTGTAAGAAT 0.448 NA 47 62 0 0 0 0 SEZ6L2 26470 broad.mit.edu 37 16 29906732 29906732 + Missense_Mutation SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr16:29906732C>T uc002duq.3 - 5 941 c.701G>A c.(700-702)GGT>GAT p.G234D uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.G164D|SEZ6L2_uc002dur.3_Missense_Mutation_p.G164D|SEZ6L2_uc002dus.3_Intron|SEZ6L2_uc010vec.1_Missense_Mutation_p.G234D|SEZ6L2_uc010ved.1_Missense_Mutation_p.G190D NM_201575 NP_963869 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 isoform 234 CUB 1.|Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane|plasma membrane ovary(1)|skin(1) 2 GGATCCCCCACCAGCCAGCAC 0.622 NA 34 50 0 0 0 0 TMEM219 124446 broad.mit.edu 37 16 29979372 29979372 + Missense_Mutation SNP A A T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr16:29979372A>T uc002duw.2 + 4 549 c.382A>T c.(382-384)ATC>TTC p.I128F uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TMEM219_uc002duy.2_Missense_Mutation_p.I128F|TMEM219_uc010bzk.1_Missense_Mutation_p.I128F|TMEM219_uc002duz.2_Missense_Mutation_p.I128F|TMEM219_uc010bzl.1_RNA NM_194280 NP_919256 Q86XT9 TM219_HUMAN transmembrane protein 219 128 integral to membrane 0 ACTGGTCCTTATCACAGCCAG 0.507 NA 61 101 0 0 0 0 ABCC12 94160 broad.mit.edu 37 16 48138167 48138167 + Missense_Mutation SNP T T G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr16:48138167T>G uc002efc.1 - 20 3132 c.2786A>C c.(2785-2787)AAC>ACC p.N929T ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_Intron|ABCC12_uc002efd.1_RNA NM_033226 NP_150229 Q96J65 MRP9_HUMAN ATP-binding cassette protein C12 929 ABC transmembrane type-1 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 all_cancers(37;0.0474)|all_lung(18;0.047) CTGCAGAAAGTTCTCTGCGTG 0.493 NA 15 310 0 0 0 0 DHX38 9785 broad.mit.edu 37 16 72143370 72143370 + Silent SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr16:72143370C>T uc002fcb.2 + 25 3793 c.3438C>T c.(3436-3438)CCC>CCT p.P1146P DHX38_uc010vmp.1_Silent_p.P458P NM_014003 NP_054722 Q92620 PRP16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 38 1146 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding skin(1) 1 Ovarian(137;0.125) AGCTGGGCCCCATGTTCTATA 0.637 NA 8 23 0 0 0 0 CLEC18B 497190 broad.mit.edu 37 16 74455117 74455117 + Silent SNP G G A rs141907838 byFrequency TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr16:74455117G>A uc002fct.2 - 1 252 c.52C>T c.(52-54)CTG>TTG p.L18L CLEC18B_uc002fcu.2_Silent_p.L18L|CLEC18B_uc010vmu.1_Silent_p.L18L|CLEC18B_uc010vmw.1_Silent_p.L18L NM_001011880 NP_001011880 Q6UXF7 CL18B_HUMAN C-type lectin domain family 18, member B 18 extracellular region sugar binding 0 AGGAGGGCCAGGAGCACAGCC 0.682 NA 24 99 0 0 0 0 CTU2 348180 broad.mit.edu 37 16 88780121 88780121 + Missense_Mutation SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr16:88780121G>A uc002flm.2 + 9 988 c.940G>A c.(940-942)GAG>AAG p.E314K CTU2_uc002fln.2_Missense_Mutation_p.E314K|CTU2_uc010chz.2_Missense_Mutation_p.E385K|CTU2_uc010cia.2_Missense_Mutation_p.E227K NM_001012759 NP_001012777 Q2VPK5 CTU2_HUMAN cytoplasmic tRNA 2-thiolation protein 2 isoform 314 tRNA thio-modification|tRNA wobble uridine modification cytoplasm|protein complex|soluble fraction protein binding skin(1) 1 CACCCTGAAGGAGGTCGCTTT 0.637 NA 44 106 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578268 7578268 + Missense_Mutation SNP A A G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr17:7578268A>G uc002gim.2 - 6 775 c.581T>C c.(580-582)CTT>CCT p.L194P TP53_uc002gig.1_Missense_Mutation_p.L194P|TP53_uc002gih.2_Missense_Mutation_p.L194P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.L62P|TP53_uc010cng.1_Missense_Mutation_p.L62P|TP53_uc002gii.1_Missense_Mutation_p.L62P|TP53_uc010cnh.1_Missense_Mutation_p.L194P|TP53_uc010cni.1_Missense_Mutation_p.L194P|TP53_uc002gij.2_Missense_Mutation_p.L194P|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.L101P|TP53_uc002gio.2_Missense_Mutation_p.L62P|TP53_uc010vug.1_Missense_Mutation_p.L155P NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 194 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). L -> H (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> F (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> V (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.L194R(31)|p.L194F(16)|p.L194P(8)|p.0?(7)|p.L194H(5)|p.L194L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191fs*53(2)|p.L194fs*15(2)|p.K164_P219del(1)|p.A189fs*53(1)|p.L194V(1)|p.L194fs*14(1)|p.P191fs*6(1)|p.I195fs*52(1)|p.H193_I195delHLI(1)|p.H193_I195>AP(1)|p.L194I(1)|p.L194fs*52(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) CACTCGGATAAGATGCTGAGG 0.552 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 26 12 0 0 0 0 VTN 7448 broad.mit.edu 37 17 26696658 26696658 + Missense_Mutation SNP C C G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr17:26696658C>G uc002hbc.2 - 3 548 c.399G>C c.(397-399)GAG>GAC p.E133D SARM1_uc010wah.1_Intron|SEBOX_uc010crk.1_5'Flank|SARM1_uc010waj.1_Intron|SARM1_uc010crl.1_5'Flank NM_000638 NP_000629 P04004 VTNC_HUMAN vitronectin precursor 133 cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion alphav-beta3 integrin-vitronectin complex|extracellular space heparin binding|integrin binding|scavenger receptor activity ovary(1)|kidney(1) 2 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) Urokinase(DB00013) AGTCTATCCCCTCAGGCTTAG 0.622 NA 17 21 0 0 0 0 KIAA0100 9703 broad.mit.edu 37 17 26962035 26962035 + Missense_Mutation SNP G G T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr17:26962035G>T uc002hbu.2 - 16 2669 c.2570C>A c.(2569-2571)GCT>GAT p.A857D NM_014680 NP_055495 Q14667 K0100_HUMAN hypothetical protein LOC9703 precursor 857 extracellular region ovary(2)|breast(1)|skin(1) 4 Lung NSC(42;0.00431) AGAGGCCCAAGCACGAGTCCC 0.483 NA 85 106 3.62e-53 4.83e-53 1 0 TIAF1 9220 broad.mit.edu 37 17 27400997 27400997 + Missense_Mutation SNP T T C rs115510379 by1000genomes TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr17:27400997T>C uc002hdv.1 - 1 1631 c.221A>G c.(220-222)AAT>AGT p.N74S MYO18A_uc010wbc.1_3'UTR|MYO18A_uc002hds.2_3'UTR|MYO18A_uc010csa.1_3'UTR|MYO18A_uc002hdt.1_3'UTR|MYO18A_uc002hdu.1_3'UTR NM_004740 NP_004731 O95411 TIAF1_HUMAN TGFB1-induced anti-apoptotic factor 1 74 anti-apoptosis|apoptosis|I-kappaB kinase/NF-kappaB cascade nucleus 0 Lung NSC(42;0.015) Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) AAATAGGTCATTGCACATAAC 0.552 NA 25 74 0 0 0 0 RFFL 117584 broad.mit.edu 37 17 33348470 33348470 + Missense_Mutation SNP G G T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr17:33348470G>T uc002hin.1 - 3 684 c.511C>A c.(511-513)CCA>ACA p.P171T RFFL_uc002hiq.2_Intron|RFFL_uc002him.1_Missense_Mutation_p.P171T|RFFL_uc010cti.1_Missense_Mutation_p.P177T|RFFL_uc002hip.1_Missense_Mutation_p.P171T|RFFL_uc002hio.1_Missense_Mutation_p.P171T NM_001017368 NP_001017368 Q8WZ73 RFFL_HUMAN rififylin 171 apoptosis membrane ligase activity|zinc ion binding 0 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) GAGGTAGGTGGAACCATGCTG 0.587 NA 13 19 2.27e-07 2.82e-07 1 0 HEXIM1 10614 broad.mit.edu 37 17 43226879 43226879 + Missense_Mutation SNP G G C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr17:43226879G>C uc002iig.2 + 1 2196 c.322G>C c.(322-324)GAA>CAA p.E108Q NM_006460 NP_006451 O94992 HEXI1_HUMAN hexamethylene bis-acetamide inducible 1 108 negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding ovary(1) 1 GCCGCCGGCAGAAGTGGAACC 0.677 NA OREG0024474 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 5 0 0 0 0 PPM1D 8493 broad.mit.edu 37 17 58678140 58678140 + Missense_Mutation SNP G G T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr17:58678140G>T uc002iyt.1 + 1 587 c.365G>T c.(364-366)GGT>GTT p.G122V PPM1D_uc010ddm.1_RNA NM_003620 NP_003611 O15297 PPM1D_HUMAN protein phosphatase 1D 122 PP2C-like. negative regulation of cell proliferation|protein dephosphorylation|response to radiation nucleus|protein serine/threonine phosphatase complex metal ion binding|protein binding|protein serine/threonine phosphatase activity upper_aerodigestive_tract(1) 1 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;6.75e-12)|all cancers(12;1.96e-10) CACTTGTGGGGTTTCATCAAG 0.637 NA 7 35 1.26e-09 1.6e-09 1 0 BPTF 2186 broad.mit.edu 37 17 65905793 65905793 + Missense_Mutation SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr17:65905793G>A uc002jgf.2 + 10 2969 c.2908G>A c.(2908-2910)GAT>AAT p.D970N BPTF_uc002jge.2_Missense_Mutation_p.D1096N NM_182641 NP_872579 Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 1096 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding ovary(2)|skin(2) 4 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) TTCTGAAAAAGATGAGGTAAA 0.343 NA 11 43 0 0 0 0 CCDC57 284001 broad.mit.edu 37 17 80156247 80156247 + Silent SNP T T C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr17:80156247T>C uc002kdz.1 - 4 814 c.459A>G c.(457-459)AAA>AAG p.K153K CCDC57_uc002kdx.1_Silent_p.K153K NM_198082 NP_932348 Q2TAC2 CCD57_HUMAN coiled-coil domain containing 57 153 Potential. ovary(2) 2 Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253) CCAGTGTCCATTTTAGATTTT 0.478 NA 3 34 0 0 0 0 FHOD3 80206 broad.mit.edu 37 18 34298136 34298136 + Missense_Mutation SNP G G C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr18:34298136G>C uc002kzt.1 + 15 2396 c.2299G>C c.(2299-2301)GAG>CAG p.E767Q FHOD3_uc002kzs.1_Missense_Mutation_p.E784Q|FHOD3_uc010dmz.1_Missense_Mutation_p.E499Q|FHOD3_uc010dna.1_Missense_Mutation_p.E87Q NM_025135 NP_079411 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 767 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding skin(3)|large_intestine(2)|breast(2)|ovary(1) 8 all_epithelial(2;0.0181)|Colorectal(2;0.0195) CCCTGATGCTGAGCCCAATGA 0.542 NA 41 249 0 0 0 0 PIK3C3 5289 broad.mit.edu 37 18 39629561 39629561 + Missense_Mutation SNP C C G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr18:39629561C>G uc002lap.2 + 21 2313 c.2255C>G c.(2254-2256)ACA>AGA p.T752R PIK3C3_uc010xcl.1_Missense_Mutation_p.T689R|PIK3C3_uc002laq.2_Missense_Mutation_p.T237R|PIK3C3_uc002lar.1_Missense_Mutation_p.T136R NM_002647 NP_002638 Q8NEB9 PK3C3_HUMAN catalytic phosphatidylinositol 3-kinase 3 752 PI3K/PI4K. cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway midbody|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding lung(8)|ovary(1)|breast(1) 10 CTTTTGCTAACAAAAACAGGT 0.353 NA TSP Lung(28;0.18) 34 19 0 0 0 0 MED16 10025 broad.mit.edu 37 19 885883 885883 + Missense_Mutation SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr19:885883C>T uc002lqd.1 - 5 917 c.766G>A c.(766-768)GAC>AAC p.D256N MED16_uc010drw.1_Missense_Mutation_p.D81N|MED16_uc002lqe.2_Missense_Mutation_p.D245N|MED16_uc002lqf.2_Missense_Mutation_p.D245N|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Missense_Mutation_p.D245N|MED16_uc010xfx.1_Intron|MED16_uc010xfy.1_Intron NM_005481 NP_005472 Q9Y2X0 MED16_HUMAN mediator complex subunit 16 256 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ATCTCCGTGTCGATACGGCAC 0.647 NA 4 66 0 0 0 0 FUT5 2527 broad.mit.edu 37 19 5867283 5867283 + Missense_Mutation SNP A A G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr19:5867283A>G uc002mdo.3 - 2 542 c.454T>C c.(454-456)TCC>CCC p.S152P FUT5_uc010duo.2_Missense_Mutation_p.S152P NM_002034 NP_002025 Q11128 FUT5_HUMAN fucosyltransferase 5 152 Lumenal (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity 0 TTGCTGGGGGACTCCATGCTG 0.627 NA 7 30 0 0 0 0 RAVER1 125950 broad.mit.edu 37 19 10434234 10434234 + Silent SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr19:10434234G>A uc002moa.2 - 4 896 c.816C>T c.(814-816)TGC>TGT p.C272C NM_133452 NP_597709 Q8IY67 RAVR1_HUMAN RAVER1 255 RRM 3. cytoplasm|nucleus nucleotide binding|protein binding|RNA binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06) CATCCTGGCCGCACGCCAGCT 0.667 NA 7 26 0 0 0 0 JAK3 3718 broad.mit.edu 37 19 17948809 17948809 + Missense_Mutation SNP C C G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr19:17948809C>G uc002nhn.3 - 12 1733 c.1633G>C c.(1633-1635)GAT>CAT p.D545H JAK3_uc010ebh.2_RNA|JAK3_uc002nho.2_Missense_Mutation_p.D545H NM_000215 NP_000206 P52333 JAK3_HUMAN Janus kinase 3 545 Protein kinase 1. B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1) 56 GCCTCCCCATCCACCACCTCA 0.567 2 Mis acute megakaryocytic leukemia| 67 95 0 0 0 0 ZNF99 7652 broad.mit.edu 37 19 22942464 22942464 + Missense_Mutation SNP G G C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr19:22942464G>C uc010xrh.1 - 4 310 c.310C>G c.(310-312)CAA>GAA p.Q104E NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) CAAAAGTCTTGTGTAAAATGA 0.279 NA 16 17 0 0 0 0 ZNF91 7644 broad.mit.edu 37 19 23544197 23544197 + Silent SNP T T C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr19:23544197T>C uc002nre.2 - 4 1697 c.1584A>G c.(1582-1584)AGA>AGG p.R528R ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Silent_p.R496R NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 528 C2H2-type 14; degenerate. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) TTAAGGATTGTCTAAAAGCTT 0.343 NA 9 20 0 0 0 0 ZNF91 7644 broad.mit.edu 37 19 23544264 23544264 + Missense_Mutation SNP G G T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr19:23544264G>T uc002nre.2 - 4 1630 c.1517C>A c.(1516-1518)ACT>AAT p.T506N ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.T474N NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 506 C2H2-type 13. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) CTTATGTTTAGTAAGGGTTGA 0.363 NA 9 31 5.49e-09 6.9e-09 1 0 ZNF91 7644 broad.mit.edu 37 19 23544273 23544273 + Missense_Mutation SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr19:23544273G>A uc002nre.2 - 4 1621 c.1508C>T c.(1507-1509)TCA>TTA p.S503L ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.S471L NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 503 C2H2-type 13. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) AGTAAGGGTTGAGGATTGCCT 0.368 NA 11 31 0 0 0 0 SLC7A10 56301 broad.mit.edu 37 19 33699842 33699842 + Silent SNP T T G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr19:33699842T>G uc002num.2 - 11 1674 c.1527A>C c.(1525-1527)CCA>CCC p.P509P SLC7A10_uc002nul.2_Silent_p.P356P NM_019849 NP_062823 Q9NS82 AAA1_HUMAN solute carrier family 7, member 10 509 blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration integral to plasma membrane L-serine transmembrane transporter activity ovary(1)|central_nervous_system(1) 2 Esophageal squamous(110;0.137) GCAGGGAGGGTGGGCAGGGGC 0.547 NA 10 70 0 0 0 0 NPHS1 4868 broad.mit.edu 37 19 36335330 36335330 + Silent SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr19:36335330C>T uc002oby.2 - 15 1962 c.1962G>A c.(1960-1962)CTG>CTA p.L654L NM_004646 NP_004637 O60500 NPHN_HUMAN nephrin precursor 654 Extracellular (Potential). cell adhesion|excretion|muscle organ development integral to plasma membrane ovary(4)|skin(1) 5 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CGGTCACCACCAGCACCTGCT 0.537 NA 3 3 0 0 0 0 CYP2F1 1572 broad.mit.edu 37 19 41630665 41630665 + Missense_Mutation SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr19:41630665C>T uc002opu.1 + 8 1062 c.1006C>T c.(1006-1008)CGG>TGG p.R336W CYP2F1_uc010xvw.1_Intron|CYP2F1_uc010xvv.1_Silent_p.R316R|CYP2F1_uc002opv.1_RNA NM_000774 NP_000765 P24903 CP2F1_HUMAN cytochrome P450, family 2, subfamily F, 336 naphthalene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding 0 GGGACGCGCGCGGCTGCCGGC 0.677 NA 10 6 0 0 0 0 MAMSTR 284358 broad.mit.edu 37 19 49216571 49216571 + Missense_Mutation SNP C C G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr19:49216571C>G uc002pkg.2 - 10 1263 c.1201G>C c.(1201-1203)GAC>CAC p.D401H MAMSTR_uc002pkf.2_Missense_Mutation_p.D298H NM_001130915 NP_001124387 Q6ZN01 MASTR_HUMAN MEF2 activating motif and SAP domain containing 401 Ser-rich.|Transcription activation (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding ovary(1) 1 CTGCTGGAGTCAGATAAGTCA 0.617 NA OREG0025608 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 17 0 0 0 0 LILRB4 11006 broad.mit.edu 37 19 55179342 55179342 + Missense_Mutation SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr19:55179342C>T uc002qgp.2 + 12 1581 c.1219C>T c.(1219-1221)CCC>TCC p.P407S LILRB4_uc002qgq.2_Missense_Mutation_p.P406S|LILRB4_uc002qgr.2_Missense_Mutation_p.P449S|LILRB4_uc010ert.2_Missense_Mutation_p.P448S|LILRB4_uc010eru.2_Missense_Mutation_p.P437S NM_006847 NP_006838 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, 407 Cytoplasmic (Potential). integral to membrane|plasma membrane antigen binding|receptor activity ovary(3) 3 GBM - Glioblastoma multiforme(193;0.035) ATCTGAAGCCCCCCAGGATGT 0.647 NA 4 98 0 0 0 0 ZNF446 55663 broad.mit.edu 37 19 58988810 58988810 + Silent SNP G G C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr19:58988810G>C uc002qsz.2 + 2 342 c.225G>C c.(223-225)CTG>CTC p.L75L ZNF446_uc002qta.2_Silent_p.L75L|ZNF446_uc010eur.2_Silent_p.L75L NM_017908 NP_060378 Q9NWS9 ZN446_HUMAN zinc finger protein 446 75 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) AGCAGTTCCTGGGCACACTGC 0.662 NA 28 45 0 0 0 0 TTC27 55622 broad.mit.edu 37 2 32927945 32927945 + Silent SNP A A G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr2:32927945A>G uc002rom.2 + 10 1422 c.1191A>G c.(1189-1191)AAA>AAG p.K397K TTC27_uc010ymx.1_Silent_p.K347K NM_017735 NP_060205 Q6P3X3 TTC27_HUMAN tetratricopeptide repeat domain 27 397 protein binding central_nervous_system(1) 1 AACTTGAGAAAGGAAGTACTC 0.438 NA 50 102 0 0 0 0 CEBPZ 10153 broad.mit.edu 37 2 37455847 37455847 + Silent SNP T T C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr2:37455847T>C uc002rpz.2 - 2 519 c.489A>G c.(487-489)AAA>AAG p.K163K C2orf56_uc010ynj.1_5'Flank|C2orf56_uc002rqa.3_5'Flank|C2orf56_uc002rqc.3_5'Flank|C2orf56_uc010ynk.1_5'Flank|C2orf56_uc010ynl.1_5'Flank NM_005760 NP_005751 Q03701 CEBPZ_HUMAN CCAAT/enhancer binding protein zeta 163 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding pancreas(1) 1 all_hematologic(82;0.21) AGATGTTCTGTTTATCTTTCT 0.373 NA 50 70 0 0 0 0 ABCG8 64241 broad.mit.edu 37 2 44079515 44079515 + Missense_Mutation SNP T T C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr2:44079515T>C uc002rtq.2 + 5 674 c.584T>C c.(583-585)CTG>CCG p.L195P ABCG8_uc010yoa.1_Missense_Mutation_p.L195P NM_022437 NP_071882 Q9H221 ABCG8_HUMAN ATP-binding cassette sub-family G member 8 195 ABC transporter.|Cytoplasmic (Potential). cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity skin(3)|ovary(1) 4 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) ATCGCGGAGCTGCGGCTTAGG 0.637 NA 24 31 0 0 0 0 OTX1 5013 broad.mit.edu 37 2 63283274 63283274 + Silent SNP T T C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr2:63283274T>C uc002scd.2 + 5 1136 c.888T>C c.(886-888)CAT>CAC p.H296H OTX1_uc010ypt.1_Silent_p.H230H NM_014562 NP_055377 P32242 OTX1_HUMAN orthodenticle homeobox 1 296 His-rich. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity pancreas(2) 2 Lung NSC(7;0.121)|all_lung(7;0.211) accaccaccatcaccaccacc 0.537 NA 3 61 0 0 0 0 ANKRD36B 57730 broad.mit.edu 37 2 98165918 98165918 + Missense_Mutation SNP C C G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr2:98165918C>G uc010yvc.1 - 20 1721 c.1441G>C c.(1441-1443)GCC>CCC p.A481P ANKRD36B_uc010yve.1_RNA NM_025190 NP_079466 Q8N2N9 AN36B_HUMAN ankyrin repeat domain 36B 481 0 TTTTCTCTGGCTATATTCAAA 0.303 NA 3 36 0 0 0 0 MRPS9 64965 broad.mit.edu 37 2 105696507 105696507 + Missense_Mutation SNP A A T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr2:105696507A>T uc002tcn.3 + 5 544 c.476A>T c.(475-477)TAT>TTT p.Y159F NM_182640 NP_872578 P82933 RT09_HUMAN mitochondrial ribosomal protein S9 precursor 159 DNA damage response, detection of DNA damage|translation mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome 0 CAGTCATACTATTCATTAATG 0.333 NA 38 60 0 0 0 0 LRP1B 53353 broad.mit.edu 37 2 141128783 141128783 + Missense_Mutation SNP T T A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr2:141128783T>A uc002tvj.1 - 70 11812 c.10840A>T c.(10840-10842)AAT>TAT p.N3614Y NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3614 Extracellular (Potential).|LDL-receptor class A 28. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TATTCTCCATTACATTTCAAA 0.294 NA TSP Lung(27;0.18) 17 21 0 0 0 0 TANC1 85461 broad.mit.edu 37 2 160053172 160053172 + Silent SNP G G T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr2:160053172G>T uc002uag.2 + 18 3307 c.3033G>T c.(3031-3033)CGG>CGT p.R1011R TANC1_uc010zcm.1_Silent_p.R1003R|TANC1_uc010fom.1_Silent_p.R817R|TANC1_uc010fon.2_5'Flank NM_033394 NP_203752 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and 1011 ANK 4. cell junction|postsynaptic density|postsynaptic membrane binding ovary(2)|central_nervous_system(1) 3 GTGCCCTACGGGGCCACGGTG 0.622 NA 25 53 2.24e-21 2.93e-21 1 0 WDSUB1 151525 broad.mit.edu 37 2 160139519 160139519 + Missense_Mutation SNP G G C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr2:160139519G>C uc002uaj.3 - 2 211 c.62C>G c.(61-63)TCC>TGC p.S21C WDSUB1_uc002uak.3_Missense_Mutation_p.S21C|WDSUB1_uc002ual.3_Missense_Mutation_p.S21C|WDSUB1_uc002uam.3_Missense_Mutation_p.S21C|WDSUB1_uc010foo.2_Missense_Mutation_p.S21C NM_152528 NP_689741 Q8N9V3 WSDU1_HUMAN WD repeat, sterile alpha motif and U-box domain 21 WD 1. ubiquitin ligase complex ubiquitin-protein ligase activity 0 GAGGGAAAAGGAGAAGGCACA 0.413 NA 38 42 0 0 0 0 LRP2 4036 broad.mit.edu 37 2 170129520 170129520 + Missense_Mutation SNP T T C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr2:170129520T>C uc002ues.2 - 15 2246 c.2033A>G c.(2032-2034)CAC>CGC p.H678R LRP2_uc010zdf.1_Missense_Mutation_p.H609R NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 678 EGF-like 3.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) ATCTGTTCTGTGGCTGAGGAC 0.453 NA 57 100 0 0 0 0 FASTKD1 79675 broad.mit.edu 37 2 170428349 170428349 + Nonsense_Mutation SNP G G C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr2:170428349G>C uc002uev.3 - 2 579 c.191C>G c.(190-192)TCA>TGA p.S64* FASTKD1_uc002uew.3_RNA|FASTKD1_uc002uex.3_Nonsense_Mutation_p.S50*|FASTKD1_uc002uey.2_Nonsense_Mutation_p.S50* NM_024622 NP_078898 Q53R41 FAKD1_HUMAN FAST kinase domains 1 64 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity ovary(4) 4 TTGCTTTTCTGAAAGTATGGC 0.378 NA 30 46 0 0 0 0 COL4A4 1286 broad.mit.edu 37 2 227924929 227924929 + Missense_Mutation SNP G G T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr2:227924929G>T uc010zlt.1 - 27 2741 c.2087C>A c.(2086-2088)GCC>GAC p.A696D NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 696 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) CAGCCCAGGGGCACCTTGGGG 0.428 NA 36 88 2.1e-21 2.75e-21 1 0 DIS3L2 129563 broad.mit.edu 37 2 233075076 233075076 + Missense_Mutation SNP G G T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr2:233075076G>T uc010fxz.2 + 10 1441 c.1165G>T c.(1165-1167)GAC>TAC p.D389Y DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA NM_152383 NP_689596 Q8IYB7 DI3L2_HUMAN DIS3 mitotic control homolog (S. 389 exonuclease activity|ribonuclease activity|RNA binding ovary(1)|breast(1)|central_nervous_system(1) 3 all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136) Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149) AACCGCCCGAGACCTCGATGA 0.478 NA 16 75 6.5e-13 8.32e-13 1 0 CDC25B 994 broad.mit.edu 37 20 3782640 3782640 + Missense_Mutation SNP C C G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr20:3782640C>G uc002wjn.2 + 10 1769 c.991C>G c.(991-993)CCC>GCC p.P331A CDC25B_uc010zqk.1_Missense_Mutation_p.P267A|CDC25B_uc010zql.1_Missense_Mutation_p.P253A|CDC25B_uc010zqm.1_Missense_Mutation_p.P240A|CDC25B_uc002wjl.2_Missense_Mutation_p.P219A|CDC25B_uc002wjm.2_Missense_Mutation_p.P219A|CDC25B_uc002wjo.2_Missense_Mutation_p.P317A|CDC25B_uc002wjp.2_Missense_Mutation_p.P290A|CDC25B_uc002wjq.2_Missense_Mutation_p.P131A|CDC25B_uc010gbc.2_5'Flank NM_021873 NP_068659 P30305 MPIP2_HUMAN cell division cycle 25B isoform 1 331 cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation cytosol|microtubule organizing center|nucleoplasm protein binding|protein tyrosine phosphatase activity lung(3)|ovary(2) 5 CGTGATCCGGCCCATCCTCAA 0.652 NA 3 12 0 0 0 0 AHCY 191 broad.mit.edu 37 20 32879320 32879320 + Missense_Mutation SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr20:32879320C>T uc002xai.2 - 5 602 c.463G>A c.(463-465)GAG>AAG p.E155K AHCY_uc002xaj.2_Missense_Mutation_p.E127K NM_000687 NP_000678 P23526 SAHH_HUMAN adenosylhomocysteinase isoform 1 155 methylation|xenobiotic metabolic process cytosol|melanosome adenosylhomocysteinase activity|protein binding 0 GTGGTCTCCTCAGAGATGCCT 0.468 NA 30 88 0 0 0 0 PCIF1 63935 broad.mit.edu 37 20 44571864 44571864 + Missense_Mutation SNP A A G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr20:44571864A>G uc002xqs.2 + 8 1116 c.802A>G c.(802-804)ATG>GTG p.M268V PCIF1_uc002xqt.2_5'Flank NM_022104 NP_071387 Q9H4Z3 PCIF1_HUMAN phosphorylated CTD interacting factor 1 268 nucleus skin(1) 1 TCGTGAAATCATGAACGACAT 0.537 NA 24 128 0 0 0 0 TPTE 7179 broad.mit.edu 37 21 10933918 10933918 + Nonsense_Mutation SNP C C A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr21:10933918C>A uc002yip.1 - 17 1329 c.961G>T c.(961-963)GAA>TAA p.E321* TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Nonsense_Mutation_p.E303*|TPTE_uc002yir.1_Nonsense_Mutation_p.E283*|TPTE_uc010gkv.1_Nonsense_Mutation_p.E183* NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 321 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TCATTTACTTCCTTGGTGAAA 0.333 NA 51 315 1.48e-19 1.93e-19 1 0 PCNT 5116 broad.mit.edu 37 21 47817314 47817314 + Missense_Mutation SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr21:47817314G>A uc002zji.3 + 22 4459 c.4352G>A c.(4351-4353)CGC>CAC p.R1451H PCNT_uc002zjj.2_Missense_Mutation_p.R1333H NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 1451 Potential. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) TCTCAGCATCGCGGGTGTGCC 0.567 NA 29 23 0 0 0 0 ZNF280B 140883 broad.mit.edu 37 22 22843615 22843615 + Missense_Mutation SNP G G T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr22:22843615G>T uc002zwc.1 - 4 885 c.109C>A c.(109-111)CAT>AAT p.H37N LOC96610_uc011aim.1_Intron NM_080764 NP_542942 Q86YH2 Z280B_HUMAN zinc finger protein 280B 37 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) TCATTTACATGTTCCACACCA 0.418 NA 31 68 3.8e-20 4.97e-20 1 0 SLC2A11 66035 broad.mit.edu 37 22 24224830 24224830 + Silent SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr22:24224830C>T uc002zyn.3 + 7 969 c.870C>T c.(868-870)GAC>GAT p.D290D SLC2A11_uc002zyl.1_Silent_p.D297D|SLC2A11_uc002zym.3_Silent_p.D297D|SLC2A11_uc002zyo.3_RNA|SLC2A11_uc011ajc.1_Silent_p.D297D|SLC2A11_uc002zyp.3_Silent_p.D293D NM_001024938 NP_001020109 Q9BYW1 GTR11_HUMAN glucose transporter protein 10 isoform c 290 Helical; Name=7; (Potential). integral to membrane|plasma membrane sugar transmembrane transporter activity ovary(1) 1 GCGGGAATGACTCGGTGAGAC 0.687 NA 4 15 0 0 0 0 MYO18B 84700 broad.mit.edu 37 22 26159338 26159338 + Silent SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr22:26159338C>T uc003abz.1 + 3 430 c.180C>T c.(178-180)GTC>GTT p.V60V MYO18B_uc003aca.1_5'UTR|MYO18B_uc010guy.1_5'UTR|MYO18B_uc010guz.1_5'UTR|MYO18B_uc011aka.1_5'UTR NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 60 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 AGTTAGCTGTCGCCTCTCCAG 0.512 NA 13 13 0 0 0 0 MYO18B 84700 broad.mit.edu 37 22 26423316 26423316 + Missense_Mutation SNP G G C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr22:26423316G>C uc003abz.1 + 43 7626 c.7376G>C c.(7375-7377)GGA>GCA p.G2459A MYO18B_uc003aca.1_Missense_Mutation_p.G2340A|MYO18B_uc010guy.1_Missense_Mutation_p.G2341A|MYO18B_uc010guz.1_Missense_Mutation_p.G2339A|MYO18B_uc011aka.1_Missense_Mutation_p.G1613A|MYO18B_uc011akb.1_Missense_Mutation_p.G1972A|MYO18B_uc010gva.1_Missense_Mutation_p.G442A|MYO18B_uc010gvb.1_RNA NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2459 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 TCCTTGGCTGGATCAGCCAAA 0.532 NA 56 83 0 0 0 0 MIOX 55586 broad.mit.edu 37 22 50926457 50926457 + Missense_Mutation SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr22:50926457G>A uc003bll.1 + 4 434 c.320G>A c.(319-321)CGG>CAG p.R107Q MIOX_uc003blm.1_Missense_Mutation_p.R107Q|MIOX_uc003bln.1_Missense_Mutation_p.R107Q NM_017584 NP_060054 Q9UGB7 MIOX_HUMAN myo-inositol oxygenase 107 inositol catabolic process cytoplasm|inclusion body aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity 0 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GAGGGCATCCGGAAGGCCCAC 0.652 NA 15 46 0 0 0 0 OGG1 4968 broad.mit.edu 37 3 9798304 9798304 + Silent SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr3:9798304G>A uc003bsi.2 + 5 1240 c.897G>A c.(895-897)CTG>CTA p.L299L OGG1_uc003bsh.2_Silent_p.L299L|OGG1_uc003bsj.2_Silent_p.L299L|OGG1_uc003bsk.2_Silent_p.L299L|OGG1_uc003bsl.2_Silent_p.L299L|OGG1_uc003bsm.2_Silent_p.L299L|OGG1_uc003bsn.2_Intron|OGG1_uc003bso.2_Intron|OGG1_uc003bsp.1_Silent_p.L64L|OGG1_uc010hcm.1_Intron|OGG1_uc003bsq.1_Intron|OGG1_uc003bsr.1_Silent_p.L64L NM_002542 NP_002533 O15527 OGG1_HUMAN 8-oxoguanine DNA-glycosylase 1 isoform 1a 299 depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation mitochondrion|nuclear matrix|nuclear speck damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding 0 Medulloblastoma(99;0.227) ACAAGGAACTGGGTGAGGAAA 0.582 NA BER_DNA_glycosylases 27 8 0 0 0 0 IMPDH2 3615 broad.mit.edu 37 3 49064207 49064207 + Silent SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr3:49064207C>T uc003cvt.2 - 7 824 c.732G>A c.(730-732)CTG>CTA p.L244L NM_000884 NP_000875 P12268 IMDH2_HUMAN inosine monophosphate dehydrogenase 2 244 GMP biosynthetic process|purine base metabolic process cytosol|nucleus IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157) CCCCACACAGCAGCTGTTTCT 0.517 NA 113 40 0 0 0 0 EPHA6 285220 broad.mit.edu 37 3 97202882 97202882 + Missense_Mutation SNP A A T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr3:97202882A>T uc010how.1 + 10 2222 c.2179A>T c.(2179-2181)ATT>TTT p.I727F EPHA6_uc011bgo.1_RNA|EPHA6_uc011bgp.1_Missense_Mutation_p.I93F|EPHA6_uc003drs.3_Missense_Mutation_p.I119F|EPHA6_uc003drr.3_Missense_Mutation_p.I119F|EPHA6_uc003drt.2_Missense_Mutation_p.I119F|EPHA6_uc010hox.1_RNA NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 632 Protein kinase.|Cytoplasmic (Potential). integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 AAGAATTCGTATTGAGAGAGT 0.264 NA 21 20 0 0 0 0 POLQ 10721 broad.mit.edu 37 3 121202255 121202255 + Missense_Mutation SNP T T A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr3:121202255T>A uc003eee.3 - 18 6077 c.5948A>T c.(5947-5949)GAG>GTG p.E1983V POLQ_uc003eed.2_Missense_Mutation_p.E1155V NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 1983 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) ATAACTTTGCTCCAAGGAGAT 0.303 NA DNA_polymerases_(catalytic_subunits) 27 30 0 0 0 0 PIK3R4 30849 broad.mit.edu 37 3 130452572 130452572 + Missense_Mutation SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr3:130452572G>A uc003enj.2 - 4 1851 c.1270C>T c.(1270-1272)CAT>TAT p.H424Y NM_014602 NP_055417 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 424 HEAT 1. fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1) 12 TTGCTGAAATGCAAAAGATAT 0.413 NA 43 45 0 0 0 0 PPP2R3A 5523 broad.mit.edu 37 3 135863925 135863925 + Missense_Mutation SNP G G C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr3:135863925G>C uc003eqv.1 + 14 3935 c.3370G>C c.(3370-3372)GAA>CAA p.E1124Q PPP2R3A_uc011blz.1_Missense_Mutation_p.E388Q|PPP2R3A_uc003eqw.1_Missense_Mutation_p.E503Q NM_002718 NP_002709 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', 1124 protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1) 7 CTCTCCCTCTGAATTTGGAAA 0.358 NA 3 44 0 0 0 0 XRN1 54464 broad.mit.edu 37 3 142048418 142048418 + Missense_Mutation SNP T T C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr3:142048418T>C uc003eus.2 - 37 4326 c.4259A>G c.(4258-4260)CAT>CGT p.H1420R XRN1_uc010huu.2_Missense_Mutation_p.H887R|XRN1_uc003eut.2_Missense_Mutation_p.H1420R|XRN1_uc003euu.2_Missense_Mutation_p.H1421R NM_019001 NP_061874 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 isoform a 1420 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding ovary(3) 3 CTGAACATTATGGTACTCATT 0.383 NA 26 26 0 0 0 0 SPATA18 132671 broad.mit.edu 37 4 52943055 52943055 + Missense_Mutation SNP G G T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr4:52943055G>T uc003gzl.2 + 7 1147 c.869G>T c.(868-870)CGC>CTC p.R290L SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.R258L|SPATA18_uc003gzk.1_Missense_Mutation_p.R290L NM_145263 NP_660306 Q8TC71 MIEAP_HUMAN spermatogenesis associated 18 homolog 290 Ser-rich. mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus mitochondrial outer membrane protein binding ovary(2)|skin(2) 4 GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204) TCCCCAAACCGCTCCAAGCTG 0.682 NA 15 28 0.000566183 0.000663279 1 0 PRDM8 56978 broad.mit.edu 37 4 81123531 81123531 + Silent SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr4:81123531C>T uc010ijo.2 + 8 1754 c.915C>T c.(913-915)ATC>ATT p.I305I PRDM8_uc003hmb.3_Silent_p.I305I|PRDM8_uc003hmc.3_Silent_p.I305I NM_020226 NP_064611 Q9NQV8 PRDM8_HUMAN PR domain containing 8 305 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 CCGACGGCATCGCCACGGGCG 0.607 NA OREG0016246 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 5 0 0 0 0 FGF5 2250 broad.mit.edu 37 4 81188009 81188009 + Missense_Mutation SNP T T C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr4:81188009T>C uc003hmd.2 + 1 268 c.31T>C c.(31-33)TTC>CTC p.F11L FGF5_uc003hme.2_Missense_Mutation_p.F11L NM_004464 NP_004455 P12034 FGF5_HUMAN fibroblast growth factor 5 isoform 1 precursor 11 cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation extracellular space fibroblast growth factor receptor binding|growth factor activity ovary(1)|breast(1) 2 CCTCCTCTTCTTCAGCCACCT 0.622 NA 32 42 0 0 0 0 HNRPDL 9987 broad.mit.edu 37 4 83350560 83350560 + Missense_Mutation SNP A A G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr4:83350560A>G uc003hmr.2 - 1 819 c.284T>C c.(283-285)ATA>ACA p.I95T ENOPH1_uc003hmv.2_5'Flank|ENOPH1_uc003hmw.2_5'Flank|ENOPH1_uc003hmx.2_5'Flank|HNRPDL_uc003hmq.2_RNA|HNRPDL_uc003hms.2_RNA|HNRPDL_uc003hmt.2_Missense_Mutation_p.I95T NM_031372 NP_112740 O14979 HNRDL_HUMAN heterogeneous nuclear ribonucleoprotein D-like 95 regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent cytoplasm|heterogeneous nuclear ribonucleoprotein complex double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding skin(1) 1 Hepatocellular(203;0.114) GGAGCGTTGTATGGAGCTGGA 0.667 NA 19 50 0 0 0 0 C4orf36 132989 broad.mit.edu 37 4 87809368 87809368 + Missense_Mutation SNP G G C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr4:87809368G>C uc003hqe.3 - 3 439 c.126C>G c.(124-126)ATC>ATG p.I42M NM_144645 NP_653246 Q96KX1 CD036_HUMAN hypothetical protein LOC132989 42 0 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00141) AAGGCAACTTGATATTGGCTA 0.378 NA 24 29 0 0 0 0 MAML3 55534 broad.mit.edu 37 4 140811147 140811147 + Silent SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr4:140811147G>A uc003ihz.1 - 2 2195 c.1443C>T c.(1441-1443)CTC>CTT p.L481L MAML3_uc011chd.1_Intron NM_018717 NP_061187 Q96JK9 MAML3_HUMAN mastermind-like 3 481 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity ovary(1) 1 all_hematologic(180;0.162) tctgctgcATGAGTTTGGCCC 0.313 NA 13 24 0 0 0 0 INPP4B 8821 broad.mit.edu 37 4 143094803 143094803 + Missense_Mutation SNP T T G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr4:143094803T>G uc003iix.3 - 17 1936 c.1341A>C c.(1339-1341)TTA>TTC p.L447F INPP4B_uc003iiw.3_Missense_Mutation_p.L447F|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Missense_Mutation_p.L262F|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Missense_Mutation_p.L318F NM_003866 NP_003857 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 447 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity ovary(1)|lung(1) 2 all_hematologic(180;0.158) AAAGCATCTTTAAAGAATTCT 0.388 NA 26 60 0 0 0 0 FBXW7 55294 broad.mit.edu 37 4 153247297 153247297 + Missense_Mutation SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr4:153247297G>A uc003ims.2 - 10 1654 c.1505C>T c.(1504-1506)GCA>GTA p.A502V FBXW7_uc011cii.1_Missense_Mutation_p.A502V|FBXW7_uc003imt.2_Missense_Mutation_p.A502V|FBXW7_uc011cih.1_Missense_Mutation_p.A326V|FBXW7_uc003imq.2_Missense_Mutation_p.A422V|FBXW7_uc003imr.2_Missense_Mutation_p.A384V NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 502 WD 4. interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex protein binding|protein binding haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1) 308 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) GCGGACTGCTGCAACATGACC 0.468 NA Mis|N|D|F colorectal|endometrial|T-ALL 41 53 0 0 0 0 STOX2 56977 broad.mit.edu 37 4 184931650 184931650 + Missense_Mutation SNP G G T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr4:184931650G>T uc003ivz.1 + 3 3094 c.1659G>T c.(1657-1659)GAG>GAT p.E553D STOX2_uc003iwa.1_Missense_Mutation_p.E242D NM_020225 NP_064610 Q9P2F5 STOX2_HUMAN storkhead box 2 553 embryo development|maternal placenta development 0 all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283) all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227) GCTATAAAGAGGTGTGTATTC 0.522 NA 18 15 3.53e-06 4.28e-06 1 0 TLR3 7098 broad.mit.edu 37 4 187004613 187004613 + Silent SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr4:187004613C>T uc003iyq.2 + 4 1874 c.1773C>T c.(1771-1773)ATC>ATT p.I591I TLR3_uc011ckz.1_Silent_p.I314I|TLR3_uc003iyr.2_Silent_p.I314I NM_003265 NP_003256 O15455 TLR3_HUMAN toll-like receptor 3 precursor 591 LRR 21.|Lumenal (Potential). activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity ovary(2)|prostate(1)|lung(1)|breast(1) 5 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) TAAAGATCATCGATTTAGGAT 0.388 NA 30 45 0 0 0 0 TLR3 7098 broad.mit.edu 37 4 187006008 187006008 + Missense_Mutation SNP C C G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr4:187006008C>G uc003iyq.2 + 5 2797 c.2696C>G c.(2695-2697)TCC>TGC p.S899C TLR3_uc011ckz.1_Missense_Mutation_p.S622C|TLR3_uc003iyr.2_Missense_Mutation_p.S622C NM_003265 NP_003256 O15455 TLR3_HUMAN toll-like receptor 3 precursor 899 Cytoplasmic (Potential). activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity ovary(2)|prostate(1)|lung(1)|breast(1) 5 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) GCACTTGGATCCAAAAACTCT 0.328 NA 26 26 0 0 0 0 ZFP42 132625 broad.mit.edu 37 4 188924382 188924382 + Missense_Mutation SNP C C G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr4:188924382C>G uc003izg.1 + 3 666 c.421C>G c.(421-423)CTT>GTT p.L141V ZFP42_uc003izh.1_Missense_Mutation_p.L141V|ZFP42_uc003izi.1_Missense_Mutation_p.L141V NM_174900 NP_777560 Q96MM3 ZFP42_HUMAN zinc finger protein 42 141 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) AGAGAATTCGCTTGAGTATTC 0.418 NA 50 88 0 0 0 0 ZDHHC11 79844 broad.mit.edu 37 5 837492 837492 + Silent SNP T T C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr5:837492T>C uc011cma.1 - 6 1272 c.888A>G c.(886-888)AAA>AAG p.K296K ZDHHC11_uc003jbj.2_RNA|ZDHHC11_uc010itd.1_RNA NM_024786 NP_079062 Q9H8X9 ZDH11_HUMAN zinc finger, DHHC-type containing 11 296 integral to membrane acyltransferase activity|zinc ion binding skin(1)|pancreas(1) 2 Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) GGAGAACTCCTTTGTCCATTT 0.478 NA 9 301 0 0 0 0 SLC45A2 51151 broad.mit.edu 37 5 33984637 33984637 + Missense_Mutation SNP C C G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr5:33984637C>G uc003jid.2 - 1 144 c.52G>C c.(52-54)GAT>CAT p.D18H SLC45A2_uc003jie.2_Missense_Mutation_p.D18H|SLC45A2_uc003jif.3_Missense_Mutation_p.D18H|SLC45A2_uc011coe.1_Missense_Mutation_p.D18H NM_016180 NP_057264 Q9UMX9 S45A2_HUMAN membrane-associated transporter protein isoform 18 Cytoplasmic (Potential). melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 GGGCCATCATCAGCTAGGGAT 0.582 NA 18 58 0 0 0 0 POLK 51426 broad.mit.edu 37 5 74865317 74865317 + Silent SNP G G T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr5:74865317G>T uc003kdw.2 + 4 504 c.408G>T c.(406-408)CTG>CTT p.L136L POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc003kdz.2_Silent_p.L136L|POLK_uc003kea.2_Silent_p.L136L|POLK_uc003keb.2_Silent_p.L136L|POLK_uc010izq.2_Silent_p.L136L|POLK_uc003kec.2_Silent_p.L46L|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Silent_p.L46L|POLK_uc003kee.2_Silent_p.L136L|POLK_uc003kef.2_Silent_p.L46L NM_016218 NP_057302 Q9UBT6 POLK_HUMAN DNA-directed DNA polymerase kappa 136 UmuC. DNA replication|nucleotide-excision repair, DNA gap filling nucleus damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding ovary(2)|kidney(2) 4 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42) TGAGTATGCTGGTAAGTAAAG 0.328 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 16 11 1.34e-09 1.69e-09 1 0 CMYA5 202333 broad.mit.edu 37 5 79033128 79033128 + Missense_Mutation SNP C C G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr5:79033128C>G uc003kgc.2 + 2 8612 c.8540C>G c.(8539-8541)ACA>AGA p.T2847R NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2847 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) GAAAGGCATACAGTTCATACT 0.423 NA 41 25 0 0 0 0 RGMB 285704 broad.mit.edu 37 5 98129212 98129212 + Missense_Mutation SNP C C G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr5:98129212C>G uc003knc.2 + 5 1594 c.1192C>G c.(1192-1194)CAA>GAA p.Q398E NM_001012761 NP_001012779 Q6NW40 RGMB_HUMAN RGM domain family, member B 357 axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft identical protein binding 0 all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0587) TGCCAACACTCAATGCCATGA 0.587 NA 9 11 0 0 0 0 PCDHB10 56126 broad.mit.edu 37 5 140574507 140574507 + Silent SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr5:140574507C>T uc003lix.2 + 1 2556 c.2382C>T c.(2380-2382)AGC>AGT p.S794S NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN protocadherin beta 10 precursor 794 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCCGAAATAGCTTTGGATTTA 0.368 NA 17 36 0 0 0 0 PCDHB11 56125 broad.mit.edu 37 5 140580775 140580775 + Silent SNP A A C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr5:140580775A>C uc003liy.2 + 1 1428 c.1428A>C c.(1426-1428)ACA>ACC p.T476T PCDHB11_uc011daj.1_Silent_p.T111T NM_018931 NP_061754 Q9Y5F2 PCDBB_HUMAN protocadherin beta 11 precursor 476 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCAGCGCTACAGACAGAGACT 0.617 NA 41 207 0 0 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140719966 140719966 + Silent SNP C C A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr5:140719966C>A uc003ljk.1 + 1 1613 c.1428C>A c.(1426-1428)GCC>GCA p.A476A PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Silent_p.A476A NM_018915 NP_061738 Q9Y5H1 PCDG2_HUMAN protocadherin gamma subfamily A, 2 isoform 1 476 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGTGACGGCCCATGACCCCG 0.542 NA 21 86 4.43e-23 5.83e-23 1 0 ARAP3 64411 broad.mit.edu 37 5 141059694 141059694 + Silent SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr5:141059694G>A uc003llm.2 - 2 438 c.360C>T c.(358-360)CTC>CTT p.L120L ARAP3_uc003lln.2_Silent_p.L42L|ARAP3_uc003llo.1_Silent_p.L120L NM_022481 NP_071926 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 120 Pro-rich. cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding breast(5)|ovary(1)|large_intestine(1) 7 CTGGTCCCCCGAGGGCTGGGC 0.652 NA 105 41 0 0 0 0 HFE 3077 broad.mit.edu 37 6 26091716 26091716 + Missense_Mutation SNP A A G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr6:26091716A>G uc003nfx.1 + 3 675 c.515A>G c.(514-516)CAC>CGC p.H172R HFE_uc003nfy.1_Missense_Mutation_p.H149R|HFE_uc010jqe.1_Missense_Mutation_p.H172R|HFE_uc003nfz.1_Missense_Mutation_p.H84R|HFE_uc003ngd.1_Missense_Mutation_p.H84R|HFE_uc003nga.1_Missense_Mutation_p.H172R|HFE_uc003ngb.1_Intron|HFE_uc003ngc.1_Intron|HFE_uc003nge.1_Intron|HFE_uc003ngf.1_Intron NM_000410 NP_000401 Q30201 HFE_HUMAN hemochromatosis protein isoform 1 precursor 172 Alpha-2.|Extracellular (Potential). antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome protein binding 0 TGGGAAAGGCACAAGATTCGG 0.597 NA Hemochromatosis 12 33 0 0 0 0 RGL2 5863 broad.mit.edu 37 6 33264552 33264552 + Missense_Mutation SNP A A C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr6:33264552A>C uc003odv.2 - 4 375 c.242T>G c.(241-243)GTC>GGC p.V81G RGL2_uc003odu.2_5'Flank|RGL2_uc010jur.2_5'UTR|RGL2_uc003odw.2_5'UTR|RGL2_uc011drb.1_5'UTR NM_004761 NP_004752 O15211 RGL2_HUMAN ral guanine nucleotide dissociation 81 Ras protein signal transduction|regulation of small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity skin(3)|lung(1)|breast(1)|pancreas(1) 6 AGGCATAGGGACCTGGAGAAC 0.562 NA 21 31 0 0 0 0 MRPS10 55173 broad.mit.edu 37 6 42179587 42179587 + Missense_Mutation SNP C C G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr6:42179587C>G uc003osa.3 - 4 301 c.255G>C c.(253-255)AAG>AAC p.K85N MRPS10_uc011dup.1_Missense_Mutation_p.K44N NM_018141 NP_060611 P82664 RT10_HUMAN mitochondrial ribosomal protein S10 85 translation actin cytoskeleton|mitochondrion|ribosome structural constituent of ribosome 0 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00528) CCAATACAGCCTTATCGTGAC 0.388 NA 11 31 0 0 0 0 TDRD6 221400 broad.mit.edu 37 6 46658086 46658086 + Missense_Mutation SNP A A G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr6:46658086A>G uc003oyj.2 + 1 2221 c.2221A>G c.(2221-2223)AAA>GAA p.K741E TDRD6_uc010jze.2_Missense_Mutation_p.K735E NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 741 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) TGTGCAGGAAAAAGTGAAAAG 0.393 NA 10 12 0 0 0 0 TFAP2B 7021 broad.mit.edu 37 6 50791426 50791426 + Missense_Mutation SNP C C A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr6:50791426C>A uc003pag.2 + 2 554 c.388C>A c.(388-390)CCC>ACC p.P130T NM_003221 NP_003212 Q92481 AP2B_HUMAN transcription factor AP-2 beta 130 Gln/Pro-rich (transactivation domain). nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity 0 Lung NSC(77;0.156) GGCCGCCTTGCCCCAGCTCTC 0.721 NA 7 5 0.00307968 0.00356809 1 0 LYRM2 57226 broad.mit.edu 37 6 90347471 90347471 + Missense_Mutation SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr6:90347471G>A uc003pnm.2 - 2 215 c.176C>T c.(175-177)GCC>GTC p.A59V LYRM2_uc010kce.1_RNA|LYRM2_uc003png.2_RNA|LYRM2_uc010kcf.1_RNA|LYRM2_uc010kcg.2_RNA|LYRM2_uc003pnl.3_RNA NM_020466 NP_065199 Q9NU23 LYRM2_HUMAN LYR motif containing 2 59 0 all_cancers(76;2.76e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;3.72e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0131) CTCTTCGGTGGCACTTTTGTT 0.363 NA 5 221 0 0 0 0 MDN1 23195 broad.mit.edu 37 6 90409446 90409446 + Missense_Mutation SNP T T A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr6:90409446T>A uc003pnn.1 - 58 8987 c.8871A>T c.(8869-8871)AGA>AGT p.R2957S NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 2957 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TTTTGCTGCATCTGTTCCAAA 0.408 NA 31 38 0 0 0 0 RSPH4A 345895 broad.mit.edu 37 6 116953560 116953560 + Missense_Mutation SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr6:116953560G>A uc003pxe.2 + 6 2252 c.2107G>A c.(2107-2109)GAA>AAA p.E703K RSPH4A_uc010kee.2_3'UTR NM_001010892 NP_001010892 Q5TD94 RSH4A_HUMAN radial spoke head 4 homolog A isoform 1 703 cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton|radial spoke 0 AGCTGAGAATGAAGAATCTGA 0.428 NA Kartagener_syndrome 13 24 0 0 0 0 BCLAF1 9774 broad.mit.edu 37 6 136597187 136597187 + Silent SNP T T C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr6:136597187T>C uc003qgx.1 - 5 1729 c.1476A>G c.(1474-1476)AAA>AAG p.K492K BCLAF1_uc003qgw.1_Intron|BCLAF1_uc003qgy.1_Silent_p.K490K|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Silent_p.K490K NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 492 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) ACTGAGTTTCTTTCTTTACTG 0.378 NA 31 201 0 0 0 0 ARID1B 57492 broad.mit.edu 37 6 157522507 157522507 + Silent SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr6:157522507C>T uc003qqn.2 + 18 4877 c.4725C>T c.(4723-4725)ACC>ACT p.T1575T ARID1B_uc003qqo.2_Silent_p.T1535T|ARID1B_uc003qqp.2_Silent_p.T1522T NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1580 Pro-rich. chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity ovary(1)|breast(1) 2 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) CCCAGGTCACCGGGCCACCAC 0.547 NA 45 130 0 0 0 0 CDK13 8621 broad.mit.edu 37 7 40027286 40027286 + Missense_Mutation SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr7:40027286C>T uc003thh.3 + 2 1582 c.1300C>T c.(1300-1302)CGT>TGT p.R434C CDK13_uc003thi.3_Missense_Mutation_p.R434C|CDK13_uc011kbf.1_5'UTR NM_003718 NP_003709 Q14004 CDK13_HUMAN cell division cycle 2-like 5 isoform 1 434 alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity lung(2)|skin(2)|ovary(1) 5 ATCCAGAAGTCGTCATTCTAG 0.378 NA 25 33 0 0 0 0 STEAP2 261729 broad.mit.edu 37 7 89859238 89859238 + Missense_Mutation SNP A A G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr7:89859238A>G uc003ujz.2 + 4 1466 c.1073A>G c.(1072-1074)GAA>GGA p.E358G STEAP2_uc010len.2_Missense_Mutation_p.E358G|STEAP2_uc003uka.2_Missense_Mutation_p.E358G|STEAP2_uc003ukb.2_Missense_Mutation_p.E358G|STEAP2_uc003ukc.2_Missense_Mutation_p.E358G|STEAP2_uc003ukd.2_Missense_Mutation_p.E358G NM_152999 NP_694544 Q8NFT2 STEA2_HUMAN six transmembrane epithelial antigen of the 358 Ferric oxidoreductase. electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity ovary(2) 2 all_hematologic(106;0.112) TGGAGAATTGAAATGTATATC 0.373 NA 3 126 0 0 0 0 ZAN 7455 broad.mit.edu 37 7 100348484 100348484 + Missense_Mutation SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr7:100348484G>A uc003uwj.2 + 12 1651 c.1486G>A c.(1486-1488)GTC>ATC p.V496I ZAN_uc003uwk.2_Missense_Mutation_p.V496I|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 496 MAM 3.|Extracellular (Potential). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) GAACACCTCCGTCACCGTCCC 0.632 NA 13 64 0 0 0 0 TRYX3 136541 broad.mit.edu 37 7 141955074 141955074 + Silent SNP C C A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr7:141955074C>A uc003vxb.2 - 3 557 c.237G>T c.(235-237)CTG>CTT p.L79L TRYX3_uc003vxc.3_Silent_p.L79L NM_001001317 NP_001001317 Q8IYP2 PRS58_HUMAN trypsin X3 precursor 79 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity 0 Melanoma(164;0.0272) CAATCACTTGCAGATGCTTTT 0.413 NA 36 16 3.76e-14 4.86e-14 1 0 MLL3 58508 broad.mit.edu 37 7 151921619 151921619 + Missense_Mutation SNP C C A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr7:151921619C>A uc003wla.2 - 19 3278 c.3059G>T c.(3058-3060)GGA>GTA p.G1020V MLL3_uc003wkz.2_Missense_Mutation_p.G81V NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 1020 PHD-type 5. 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) CAGGAGTCTTCCTGGGTCAGT 0.488 NA N medulloblastoma 13 13 0.00400662 0.00463183 1 0 PRKDC 5591 broad.mit.edu 37 8 48697813 48697813 + Silent SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr8:48697813G>A uc003xqi.2 - 78 11025 c.10968C>T c.(10966-10968)CTC>CTT p.L3656L PRKDC_uc003xqj.2_Silent_p.L3656L|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 3656 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) TGAAGTCACTGAGCTTCATTC 0.363 NA NHEJ 12 33 0 0 0 0 KCNB2 9312 broad.mit.edu 37 8 73480238 73480238 + Missense_Mutation SNP A A G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr8:73480238A>G uc003xzb.2 + 2 857 c.269A>G c.(268-270)GAT>GGT p.D90G NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 90 Cytoplasmic (Potential). regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) TATTTCTTTGATCGGCATCCA 0.493 NA 33 91 0 0 0 0 JPH1 56704 broad.mit.edu 37 8 75233253 75233253 + Missense_Mutation SNP G G C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr8:75233253G>C uc003yae.2 - 1 310 c.270C>G c.(268-270)TTC>TTG p.F90L JPH1_uc003yaf.2_Missense_Mutation_p.F90L|JPH1_uc003yag.1_Intron NM_020647 NP_065698 Q9HDC5 JPH1_HUMAN junctophilin 1 90 Gly-rich.|Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane ovary(1) 1 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) AGCGCCCCTTGAAACCATGTG 0.667 NA 9 52 0 0 0 0 ZFHX4 79776 broad.mit.edu 37 8 77764911 77764911 + Silent SNP T T C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr8:77764911T>C uc003yav.2 + 10 6006 c.5619T>C c.(5617-5619)TTT>TTC p.F1873F ZFHX4_uc003yau.1_Silent_p.F1918F|ZFHX4_uc003yaw.1_Silent_p.F1873F NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1873 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) ACTTTGGTTTTGAACTGGTCA 0.448 NA HNSCC(33;0.089) 13 47 0 0 0 0 WWP1 11059 broad.mit.edu 37 8 87414410 87414410 + Silent SNP A A G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr8:87414410A>G uc003ydt.2 + 8 982 c.702A>G c.(700-702)GCA>GCG p.A234A WWP1_uc010mai.2_Intron NM_007013 NP_008944 Q9H0M0 WWP1_HUMAN WW domain containing E3 ubiquitin protein ligase 234 central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity lung(1)|liver(1) 2 AACCACTCGCATCTGAGCCTG 0.448 NA 15 27 0 0 0 0 RUNX1T1 862 broad.mit.edu 37 8 92983007 92983007 + Missense_Mutation SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr8:92983007C>T uc003yfd.2 - 10 1502 c.1418G>A c.(1417-1419)CGG>CAG p.R473Q RUNX1T1_uc003yfc.1_Missense_Mutation_p.R446Q|RUNX1T1_uc003yfe.1_Missense_Mutation_p.R436Q|RUNX1T1_uc010mao.2_Missense_Mutation_p.R446Q|RUNX1T1_uc011lgi.1_Missense_Mutation_p.R484Q|RUNX1T1_uc010man.1_Missense_Mutation_p.R98Q|RUNX1T1_uc003yfb.1_Missense_Mutation_p.R436Q NM_175634 NP_783552 Q06455 MTG8_HUMAN acute myelogenous leukemia 1 translocation 1 473 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) GTGGGCTTTCCGCTCCGCCTC 0.617 NA 27 29 0 0 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110416786 110416786 + Nonsense_Mutation SNP C C G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr8:110416786C>G uc003yne.2 + 15 1481 c.1377C>G c.(1375-1377)TAC>TAG p.Y459* NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 459 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TTTCCAGATACTATATTGAAA 0.299 NA HNSCC(38;0.096) 9 16 0 0 0 0 ENPP2 5168 broad.mit.edu 37 8 120596204 120596204 + Nonsense_Mutation SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr8:120596204G>A uc003yot.1 - 16 1539 c.1453C>T c.(1453-1455)CAG>TAG p.Q485* ENPP2_uc011lic.1_Nonsense_Mutation_p.Q2*|ENPP2_uc003yor.1_Nonsense_Mutation_p.Q124*|ENPP2_uc003yos.1_Nonsense_Mutation_p.Q537*|ENPP2_uc010mdd.1_Nonsense_Mutation_p.Q485* NM_001040092 NP_001035181 Q13822 ENPP2_HUMAN autotaxin isoform 2 preproprotein 485 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1) 7 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) CATCATACCTGCATGCTGTTG 0.363 NA 81 249 0 0 0 0 FAM135B 51059 broad.mit.edu 37 8 139160898 139160898 + Missense_Mutation SNP C C G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr8:139160898C>G uc003yuy.2 - 14 3484 c.3313G>C c.(3313-3315)GAA>CAA p.E1105Q FAM135B_uc003yux.2_Missense_Mutation_p.E1006Q|FAM135B_uc003yuz.2_Intron|FAM135B_uc003yva.2_Missense_Mutation_p.E667Q|FAM135B_uc003yvb.2_Intron NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 1105 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) ATCTTCAGTTCTTTTTTAAAT 0.368 NA HNSCC(54;0.14) 10 55 0 0 0 0 NAPRT1 93100 broad.mit.edu 37 8 144658617 144658617 + Missense_Mutation SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr8:144658617C>T uc003yym.3 - 7 1032 c.1007G>A c.(1006-1008)CGA>CAA p.R336Q NAPRT1_uc003yyn.3_Missense_Mutation_p.R336Q|NAPRT1_uc011lkh.1_Missense_Mutation_p.R336Q|NAPRT1_uc003yyo.3_Missense_Mutation_p.R336Q NM_145201 NP_660202 Q6XQN6 PNCB_HUMAN nicotinate phosphoribosyltransferase domain 336 nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process cytosol|Golgi apparatus|nucleus nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity ovary(1) 1 all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146) TGCAGCAGCTCGGAAGACCTT 0.652 NA 18 40 0 0 0 0 KIFC2 90990 broad.mit.edu 37 8 145698668 145698668 + Silent SNP G G T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr8:145698668G>T uc003zcz.2 + 17 2417 c.2352G>T c.(2350-2352)CCG>CCT p.P784P KIFC2_uc003zda.2_Silent_p.P172P NM_145754 NP_665697 Q96AC6 KIFC2_HUMAN kinesin family member C2 784 Pro-rich. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding ovary(2)|central_nervous_system(1) 3 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-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;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) TCCGCTCACCGGGACCCCCTG 0.741 NA 7 16 0.000157383 0.000186031 1 0 KIAA1432 57589 broad.mit.edu 37 9 5774097 5774097 + Missense_Mutation SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr9:5774097G>A uc003zji.2 + 25 3979 c.3886G>A c.(3886-3888)GAG>AAG p.E1296K KIAA1432_uc003zjl.3_Missense_Mutation_p.E1259K|ERMP1_uc011lme.1_Intron NM_020829 NP_065880 Q4ADV7 RIC1_HUMAN connexin 43-interacting protein 150 isoform a 1375 integral to membrane 0 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) CCCCCGGGCAGAGGAGAGCAG 0.557 NA 19 19 0 0 0 0 DENND1A 57706 broad.mit.edu 37 9 126414381 126414381 + Missense_Mutation SNP C C G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr9:126414381C>G uc004bnz.1 - 9 762 c.529G>C c.(529-531)GTG>CTG p.V177L DENND1A_uc011lzl.1_5'UTR|DENND1A_uc004bny.1_5'UTR|DENND1A_uc011lzm.1_Missense_Mutation_p.V145L|DENND1A_uc004boa.1_Missense_Mutation_p.V177L|DENND1A_uc004bob.1_Missense_Mutation_p.V147L|DENND1A_uc004boc.2_Missense_Mutation_p.V145L NM_020946 NP_065997 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A isoform 1 177 DENN. cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity ovary(2) 2 TCCACAGCCACAAAATATTCT 0.398 NA 16 45 0 0 0 0 GTF3C4 9329 broad.mit.edu 37 9 135546192 135546192 + Silent SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr9:135546192G>A uc010mzv.2 + 1 465 c.207G>A c.(205-207)CCG>CCA p.P69P DDX31_uc004cbq.1_5'Flank|DDX31_uc010mzu.1_5'Flank|DDX31_uc004cbr.1_5'Flank|DDX31_uc004cbs.1_5'Flank|GTF3C4_uc010mzw.2_RNA NM_012204 NP_036336 Q9UKN8 TF3C4_HUMAN general transcription factor IIIC 4 69 transcription initiation from RNA polymerase III promoter transcription factor TFIIIC complex DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05) GCCTGGAACCGCTGGCTTGGT 0.706 NA 4 4 0 0 0 0 NOTCH1 4851 broad.mit.edu 37 9 139412684 139412684 + Missense_Mutation SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr9:139412684C>T uc004chz.2 - 7 1160 c.1160G>A c.(1159-1161)TGC>TAC p.C387Y NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 387 Extracellular (Potential).|EGF-like 10. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GTTGGTGTCGCAGTTGGAGCC 0.672 NA T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 9 1 0 0 0 0 MRPL41 64975 broad.mit.edu 37 9 140446808 140446808 + Missense_Mutation SNP T T G TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr9:140446808T>G uc004cnh.3 + 2 405 c.275T>G c.(274-276)TTC>TGC p.F92C PNPLA7_uc010ncj.1_5'Flank|PNPLA7_uc004cnf.2_5'Flank NM_032477 NP_115866 Q8IXM3 RM41_HUMAN mitochondrial ribosomal protein L41 92 apoptosis|cell cycle|translation mitochondrial large ribosomal subunit structural constituent of ribosome 0 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106) GCGCAGCTCTTCAGCGAAGCC 0.622 NA 13 29 0 0 0 0 MXRA5 25878 broad.mit.edu 37 X 3241328 3241328 + Missense_Mutation SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chrX:3241328C>T uc004crg.3 - 5 2555 c.2398G>A c.(2398-2400)GAA>AAA p.E800K NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 800 extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) GGGGGTACTTCTGTGCCCTTA 0.468 NA 27 16 0 0 0 0 FRMPD4 9758 broad.mit.edu 37 X 12701691 12701691 + Silent SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chrX:12701691C>T uc004cuz.1 + 6 1064 c.558C>T c.(556-558)ATC>ATT p.I186I FRMPD4_uc011mij.1_Silent_p.I178I NM_014728 NP_055543 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 186 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1) 13 AGGTCATCATCAACGGCCAAG 0.443 NA 19 8 0 0 0 0 GPR64 10149 broad.mit.edu 37 X 19022962 19022962 + Missense_Mutation SNP C C A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chrX:19022962C>A uc004cyx.2 - 23 2039 c.1875G>T c.(1873-1875)ATG>ATT p.M625I GPR64_uc004cyy.2_Missense_Mutation_p.M622I|GPR64_uc004cyz.2_Missense_Mutation_p.M611I|GPR64_uc004czb.2_Missense_Mutation_p.M625I|GPR64_uc004czc.2_Missense_Mutation_p.M609I|GPR64_uc004czd.2_Missense_Mutation_p.M601I|GPR64_uc004cze.2_Missense_Mutation_p.M595I|GPR64_uc004czf.2_Missense_Mutation_p.M587I|GPR64_uc004cza.2_Missense_Mutation_p.M603I|GPR64_uc004cyw.2_Missense_Mutation_p.M609I|GPR64_uc010nfj.2_Missense_Mutation_p.M506I NM_001079858 NP_001073327 Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 isoform 1 625 Extracellular (Potential). neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity 0 Hepatocellular(33;0.183) TCAGAGCCATCATTTGAGCAG 0.333 NA 84 31 1.8e-35 2.38e-35 1 0 P2RY10 27334 broad.mit.edu 37 X 78216656 78216656 + Silent SNP C C T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chrX:78216656C>T uc004ede.2 + 4 1008 c.639C>T c.(637-639)ATC>ATT p.I213I P2RY10_uc004edf.2_Silent_p.I213I NM_014499 NP_055314 O00398 P2Y10_HUMAN G-protein coupled purinergic receptor P2Y10 213 Helical; Name=5; (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(2)|lung(2)|breast(1) 5 CAGTGATCATCATCGCATGGT 0.478 NA 38 13 0 0 0 0 IRS4 8471 broad.mit.edu 37 X 107977584 107977584 + Missense_Mutation SNP G G A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chrX:107977584G>A uc004eoc.2 - 1 2024 c.1991C>T c.(1990-1992)ACG>ATG p.T664M NM_003604 NP_003595 O14654 IRS4_HUMAN insulin receptor substrate 4 664 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1) 10 GCATTCTTTCGTGGCTCCTCT 0.512 NA 219 77 0 0 0 0 ZMYM6 9204 broad.mit.edu 37 1 35452758 35452759 + Frame_Shift_Ins INS - - A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr1:35452758_35452759insA uc001byh.2 - 16 4152_4153 c.3924_3925insT c.(3922-3927)CTTGCAfs p.L1308fs uc001byd.3_5'Flank|uc001bye.2_5'Flank|ZMYM6_uc001byf.1_Intron|ZMYM6_uc010oht.1_Frame_Shift_Ins_p.L1211fs NM_007167 NP_009098 O95789 ZMYM6_HUMAN zinc finger protein 258 1308_1309 multicellular organismal development nucleus DNA binding|zinc ion binding ovary(3) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13) GATGTGACTGCAAGTCTTAGGG 0.366 NA 27 55 --- --- --- --- NA NA NA NA HEATR5A 25938 broad.mit.edu 37 14 31819914 31819915 + Frame_Shift_Ins INS - - A TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr14:31819914_31819915insA uc001wrf.3 - 11 1618_1619 c.1541_1542insT c.(1540-1542)ATAfs p.I514fs HEATR5A_uc010ami.2_Frame_Shift_Ins_p.I412fs|HEATR5A_uc001wrg.1_Frame_Shift_Ins_p.I396fs|HEATR5A_uc010tpk.1_Frame_Shift_Ins_p.I807fs NM_015473 NP_056288 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 801 binding ovary(1) 1 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) GCTGTTCCAATATAAGAAGCCT 0.272 NA 6 10 --- --- --- --- NA NA NA NA CLK3 1198 broad.mit.edu 37 15 74919886 74919888 + In_Frame_Del DEL GAG GAG - rs149199059 TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr15:74919886_74919888delGAG uc010uln.1 + 9 1824_1826 c.1363_1365delGAG c.(1363-1365)GAGdel p.E456del CLK3_uc002ayg.3_In_Frame_Del_p.E308del|CLK3_uc002ayh.3_In_Frame_Del_p.E87del|CLK3_uc002ayj.3_In_Frame_Del_p.E285del|CLK3_uc002ayk.3_In_Frame_Del_p.E235del|CLK3_uc002ayl.3_In_Frame_Del_p.E141del NM_001130028 NP_001123500 P49761 CLK3_HUMAN CDC-like kinase 3 isoform a 456 Protein kinase. acrosomal vesicle|nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(2) 2 TCAGAGCTGTGAGGAGAAGTCAG 0.576 NA 54 54 --- --- --- --- NA NA NA NA LRP1B 53353 broad.mit.edu 37 2 141122323 141122323 + Frame_Shift_Del DEL G G - TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr2:141122323delG uc002tvj.1 - 72 12010 c.11038delC c.(11038-11040)CTTfs p.L3680fs NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3680 Extracellular (Potential).|LDL-receptor class A 30. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTATTGCAAAGGAACTCATCA 0.403 NA TSP Lung(27;0.18) 46 112 --- --- --- --- NA NA NA NA C20orf103 24141 broad.mit.edu 37 20 9496163 9496180 + In_Frame_Del DEL CTGAAAAAGATATATTTG CTGAAAAAGATATATTTG - TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr20:9496163_9496180delCTGAAAAAGATATATTTG uc002wni.1 + 2 357_374 c.128_145delCTGAAAAAGATATATTTG c.(127-147)CCTGAAAAAGATATATTTGTG>CTG p.43_49PEKDIFV>L C20orf103_uc010zrc.1_In_Frame_Del_p.43_49PEKDIFV>L NM_012261 NP_036393 Q9UJQ1 CT103_HUMAN chromosome 20 open reading frame 103 precursor 43_49 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|lung(1)|breast(1) 3 COAD - Colon adenocarcinoma(9;0.194) TCCACTAACCCTGAAAAAGATATATTTGTGGTGCGGGA 0.436 NA 24 96 --- --- --- --- NA NA NA NA SHROOM1 134549 broad.mit.edu 37 5 132161695 132161695 + Frame_Shift_Del DEL G G - TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr5:132161695delG uc003kxx.2 - 4 943 c.138delC c.(136-138)CGCfs p.R46fs SHROOM1_uc003kxy.1_Frame_Shift_Del_p.R46fs NM_133456 NP_597713 Q2M3G4 SHRM1_HUMAN shroom family member 1 46 actin filament bundle assembly|cell morphogenesis cytoplasm|microtubule actin filament binding pancreas(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GCGACTGCGTGCGCGGCTCGG 0.572 NA 2 4 --- --- --- --- NA NA NA NA HLA-A 3105 broad.mit.edu 37 6 29911958 29911959 + Frame_Shift_Ins INS - - GC TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr6:29911958_29911959insGC uc003nol.2 + 4 679_680 c.679_680insGC c.(679-681)TGCfs p.C227fs HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_5'Flank|HLA-A_uc010jrq.2_Frame_Shift_Ins_p.C106fs|HLA-A_uc003nok.2_Frame_Shift_Ins_p.C106fs|HLA-A_uc003non.2_Frame_Shift_Ins_p.C227fs|HLA-A_uc003noo.2_Frame_Shift_Ins_p.C227fs|HLA-A_uc010jrr.2_Frame_Shift_Ins_p.C227fs|HLA-A_uc003nom.2_Frame_Shift_Ins_p.C106fs|HLA-A_uc010klp.2_Frame_Shift_Ins_p.C199fs|HLA-A_uc011dmc.1_Frame_Shift_Ins_p.C106fs|HLA-A_uc011dmd.1_Frame_Shift_Ins_p.C106fs NM_002116 NP_002107 P30443 1A01_HUMAN major histocompatibility complex, class I, A 227 Extracellular (Potential).|Alpha-3.|Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity upper_aerodigestive_tract(1)|ovary(1) 2 CACCCTGAGGTGCTGGGCCCTG 0.604 NA Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of Multiple Myeloma(9;0.094) 37 120 --- --- --- --- NA NA NA NA PLEKHG1 57480 broad.mit.edu 37 6 151162005 151162006 + Frame_Shift_Del DEL GT GT - TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 51647474-f538-4e96-babd-e742f1fb793f 9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65 g.chr6:151162005_151162006delGT uc003qny.1 + 17 4443_4444 c.4131_4132delGT c.(4129-4134)CAGTGTfs p.Q1377fs PLEKHG1_uc011eem.1_Frame_Shift_Del_p.Q1436fs NM_001029884 NP_001025055 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G 1377_1378 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) AAAAATTTCAGTGTCTCAGTTC 0.366 NA 13 94 --- --- --- --- NA NA NA NA