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 ACHILLES_Top_Genes 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 pox_cutoff isArtifactMode oxoGCut ZMYM6 9204 broad.mit.edu 37 1 35476084 35476084 + Nonsense_Mutation SNP G G A TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr1:35476084G>A uc001byh.2 - 10 1684 c.1456C>T c.(1456-1458)CGA>TGA p.R486* ZMYM6_uc001byf.1_Nonsense_Mutation_p.R486*|ZMYM6_uc010oht.1_Nonsense_Mutation_p.R389*|ZMYM6_uc009vup.2_Nonsense_Mutation_p.R292*|ZMYM6_uc009vuq.1_Nonsense_Mutation_p.R486*|ZMYM6_uc009vur.1_Nonsense_Mutation_p.R292* NM_007167 NP_009098 O95789 ZMYM6_HUMAN zinc finger protein 258 486 multicellular organismal development nucleus DNA binding|zinc ion binding ovary(3) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13) CCTGAGAATCGCACAGTCTCC 0.373 NA 7 126 0 0 0.038147 0 0 RLF 6018 broad.mit.edu 37 1 40703541 40703541 + Missense_Mutation SNP C C G TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr1:40703541C>G uc001cfc.3 + 8 3198 c.3167C>G c.(3166-3168)ACA>AGA p.T1056R RLF_uc001cfd.3_Missense_Mutation_p.T747R NM_012421 NP_036553 Q13129 RLF_HUMAN rearranged L-myc fusion 1056 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding ovary(2)|pancreas(1) 3 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) AGGCCCTGTACAGAGGATACC 0.398 NA 7 70 0 0 0.038147 0 0 TNNT2 7139 broad.mit.edu 37 1 201333427 201333427 + Missense_Mutation SNP G G C TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr1:201333427G>C uc001gwf.2 - 11 557 c.488C>G c.(487-489)GCT>GGT p.A163G TNNT2_uc009wzn.2_5'Flank|TNNT2_uc009wzo.2_5'Flank|TNNT2_uc009wzp.2_5'Flank|TNNT2_uc001gwg.2_Missense_Mutation_p.A153G|TNNT2_uc001gwh.2_Missense_Mutation_p.A148G|TNNT2_uc001gwi.2_Missense_Mutation_p.A123G|TNNT2_uc009wzr.2_Missense_Mutation_p.A94G|TNNT2_uc001gwj.1_5'Flank|TNNT2_uc009wzs.1_Missense_Mutation_p.A128G|TNNT2_uc001gwk.1_Missense_Mutation_p.A94G|TNNT2_uc009wzt.1_Missense_Mutation_p.A153G NM_000364 NP_000355 P45379 TNNT2_HUMAN troponin T type 2, cardiac isoform 1 163 ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|response to calcium ion|ventricular cardiac muscle tissue morphogenesis cytosol|troponin complex actin binding|tropomyosin binding|troponin C binding|troponin I binding 0 GTCACTCACAGCCAGGCGGTT 0.637 NA 2 7 0 0 0.004672 0 0 ZNF678 339500 broad.mit.edu 37 1 227843479 227843479 + Missense_Mutation SNP A A C TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr1:227843479A>C uc001hqw.1 + 4 1873 c.1528A>C c.(1528-1530)ATT>CTT p.I510L ZNF678_uc009xet.1_Intron|ZNF678_uc009xeu.1_Intron NM_178549 NP_848644 F5GXA7 F5GXA7_HUMAN zinc finger protein 678 565 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding pancreas(1) 1 Prostate(94;0.0885) GTATAAGAGAATTTATACTGG 0.323 NA 6 41 0 0 0.038147 0 0 ZNF33A 7581 broad.mit.edu 37 10 38345409 38345409 + Missense_Mutation SNP A A G rs71491230 byFrequency TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr10:38345409A>G uc001izh.2 + 5 2532 c.2354A>G c.(2353-2355)CAG>CGG p.Q785R ZNF33A_uc001izg.2_Missense_Mutation_p.Q786R|ZNF33A_uc010qev.1_Missense_Mutation_p.Q792R|ZNF33A_uc001izi.1_Intron NM_006974 NP_008905 Q06730 ZN33A_HUMAN zinc finger protein 33A isoform b 785 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(1) 3 AGAAATTTCCAGCCACAAGTC 0.383 NA 4 75 0 0 0.009096 0 0 SFTPA2 729238 broad.mit.edu 37 10 81319085 81319085 + Missense_Mutation SNP C C T TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr10:81319085C>T uc001kal.3 - 3 252 c.155G>A c.(154-156)GGA>GAA p.G52E SFTPA2_uc001kan.3_Missense_Mutation_p.G52E|SFTPA2_uc001kam.2_RNA NM_006926 NP_008857 Q8IWL1 SFPA2_HUMAN RecName: Full=Pulmonary surfactant-associated protein A2; Short=SP-A2; Short=SP-A; Short=PSP-A; Short=PSPA; AltName: Full=Alveolar proteinosis protein; AltName: Full=35 kDa pulmonary surfactant-associated protein; Flags: Precursor; 52 Collagen-like. cell junction assembly|respiratory gaseous exchange collagen|extracellular space sugar binding 0 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) GCCAGGGTCTCCTTTGACACC 0.632 NA Pulmonary_Fibrosis_Idiopathic 5 77 0 0 0.021553 0 0 PSTK 118672 broad.mit.edu 37 10 124742438 124742438 + Missense_Mutation SNP C C G TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr10:124742438C>G uc001lgy.1 + 2 846 c.406C>G c.(406-408)CTC>GTC p.L136V NM_153336 NP_699167 Q8IV42 PSTK_HUMAN phosphoseryl-tRNA kinase 136 ATP binding|kinase activity liver(1) 1 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725) GTCTTGCTACCTCTTAACAAA 0.403 NA 13 123 0 0 0.028581 0 0 OR51B5 282763 broad.mit.edu 37 11 5363849 5363849 + Silent SNP A A G TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr11:5363849A>G uc001map.1 - 1 906 c.906T>C c.(904-906)CTT>CTC p.L302L HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron NM_001005567 NP_001005567 Q9H339 O51B5_HUMAN olfactory receptor, family 51, subfamily B, 302 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TAAAAAGGTGAAGAATGGCAT 0.378 NA 8 75 0 0 0.038147 0 0 KIAA0652 9776 broad.mit.edu 37 11 46686502 46686502 + Missense_Mutation SNP C C T TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr11:46686502C>T uc009yld.2 + 12 1577 c.893C>T c.(892-894)CCT>CTT p.P298L KIAA0652_uc001nda.2_Missense_Mutation_p.P331L|KIAA0652_uc001ndb.2_Missense_Mutation_p.P298L|KIAA0652_uc001ncz.2_Intron|KIAA0652_uc001ndc.2_Intron|KIAA0652_uc010rgv.1_Intron NM_001142673 NP_001136145 O75143 ATG13_HUMAN autophagy-related protein 13 isoform 1 298 autophagic vacuole assembly cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding 0 GBM - Glioblastoma multiforme(35;0.226) GCTACACACCCTCACCAGGTA 0.542 NA 8 153 0 0 0.038147 0 0 ZBTB3 79842 broad.mit.edu 37 11 62519814 62519814 + Silent SNP G G A TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr11:62519814G>A uc001nuz.2 - 2 1595 c.1473C>T c.(1471-1473)GCC>GCT p.A491A NM_024784 NP_079060 Q9H5J0 ZBTB3_HUMAN zinc finger and BTB domain containing 3 491 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|ovary(1) 3 TGTGCACCGTGGCATGTCGCC 0.567 NA 4 34 0 0 0.014758 0 0 DDX12 440081 broad.mit.edu 37 12 9573223 9573223 + Missense_Mutation SNP C C A rs4763936 by1000genomes TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr12:9573223C>A uc010sgs.1 - 21 2285 c.2090G>T c.(2089-2091)GGT>GTT p.G697V DDX12_uc001qvx.3_5'Flank|DDX12_uc001qvy.1_5'Flank NM_004400 NP_004391 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12 0 AGAAACCACACCGCACAGGTT 0.478 NA 6 22 0.00198382 0.00212969 0.02938 1 0 DENND5B 160518 broad.mit.edu 37 12 31566417 31566417 + Silent SNP G G T TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr12:31566417G>T uc001rki.1 - 13 2820 c.2634C>A c.(2632-2634)CTC>CTA p.L878L DENND5B_uc001rkh.1_Silent_p.L913L|DENND5B_uc009zjq.1_Intron NM_144973 NP_659410 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 878 RUN 1. integral to membrane ovary(1)|central_nervous_system(1) 2 GCTGGGACAAGAGCTTCTTTT 0.403 NA 6 67 0.00198382 0.00212969 0.02938 1 0 OR6C68 403284 broad.mit.edu 37 12 55886450 55886450 + Missense_Mutation SNP A A G TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr12:55886450A>G uc010spo.1 + 1 304 c.304A>G c.(304-306)ATT>GTT p.I102V NM_001005519 NP_001005519 A6NDL8 O6C68_HUMAN olfactory receptor, family 6, subfamily C, 97 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TGCATGTGTCATTCAGCTATT 0.358 NA 7 146 0 0 0.038147 0 0 RBMS2 5939 broad.mit.edu 37 12 56975221 56975221 + Missense_Mutation SNP G G A TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr12:56975221G>A uc001sln.2 + 7 860 c.661G>A c.(661-663)GGG>AGG p.G221R RBMS2_uc010sqp.1_Missense_Mutation_p.G76R|RBMS2_uc010sqq.1_Missense_Mutation_p.G96R|RBMS2_uc009zou.2_5'UTR NM_002898 NP_002889 Q15434 RBMS2_HUMAN RNA binding motif, single stranded interacting 221 RNA processing nucleus nucleotide binding|RNA binding 0 TGCTGATGGCGGGCCAAAGAA 0.537 NA 3 32 0 0 0.004672 0 0 NTN4 59277 broad.mit.edu 37 12 96059736 96059736 + Missense_Mutation SNP A A G TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr12:96059736A>G uc001tei.2 - 9 2049 c.1600T>C c.(1600-1602)TCA>CCA p.S534P NTN4_uc009ztf.2_Missense_Mutation_p.S511P|NTN4_uc009ztg.2_Missense_Mutation_p.S497P NM_021229 NP_067052 Q9HB63 NET4_HUMAN netrin 4 precursor 534 NTR. axon guidance basement membrane|plasma membrane upper_aerodigestive_tract(1)|ovary(1) 2 TCATGAGCTGATAAAATCTTT 0.303 NA 6 60 0 0 0.02938 0 0 C13orf26 122046 broad.mit.edu 37 13 31540436 31540436 + Nonsense_Mutation SNP C C T TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr13:31540436C>T uc001uti.2 + 5 566 c.547C>T c.(547-549)CGA>TGA p.R183* NM_152325 NP_689538 Q8N6G2 CM026_HUMAN hypothetical protein LOC122046 183 p.R183*(1) ovary(2)|skin(1) 3 Lung SC(185;0.0281) all cancers(112;0.0176)|Epithelial(112;0.0768)|OV - Ovarian serous cystadenocarcinoma(117;0.0852) CACTGAATTCCGAAGGAATTA 0.423 NA 7 54 0 0 0.02938 0 0 TMEM90A 646658 broad.mit.edu 37 14 74876105 74876105 + Missense_Mutation SNP C C G TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr14:74876105C>G uc001xpx.2 - 2 591 c.343G>C c.(343-345)GTC>CTC p.V115L NM_001105579 NP_001099049 A6NDD5 SYN1L_HUMAN transmembrane protein 90A 115 response to biotic stimulus Golgi apparatus|integral to membrane 0 BRCA - Breast invasive adenocarcinoma(234;0.00159) TGGATGGTGACATTCTCTGCA 0.597 NA 16 114 0 0 0.024245 0 0 CASC5 57082 broad.mit.edu 37 15 40913729 40913729 + Missense_Mutation SNP C C G TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr15:40913729C>G uc010bbs.1 + 11 1506 c.1345C>G c.(1345-1347)CAA>GAA p.Q449E CASC5_uc010ucq.1_Missense_Mutation_p.Q273E|CASC5_uc001zme.2_Missense_Mutation_p.Q423E|CASC5_uc010bbt.1_Missense_Mutation_p.Q423E NM_170589 NP_733468 Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 isoform 1 449 Interaction with BUB1 and BUB1B. acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding breast(3)|central_nervous_system(1)|skin(1) 5 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) TCCATCTATTCAAGGTTGTAA 0.363 NA 10 153 0 0 0.069234 0 0 CD2BP2 10421 broad.mit.edu 37 16 30365563 30365563 + Missense_Mutation SNP C C A TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr16:30365563C>A uc002dxr.2 - 2 412 c.159G>T c.(157-159)GAG>GAT p.E53D CD2BP2_uc002dxs.2_Missense_Mutation_p.E53D NM_006110 NP_006101 O95400 CD2B2_HUMAN CD2 antigen (cytoplasmic tail) binding protein 53 assembly of spliceosomal tri-snRNP cytoplasm|nucleoplasm|U5 snRNP protein binding|ribonucleoprotein binding ovary(1) 1 CATCATCATCCTCCTCCTCAT 0.517 NA 41 205 6.2361e-21 7.34251e-21 0.09836 1 0 NGFR 4804 broad.mit.edu 37 17 47587854 47587854 + Missense_Mutation SNP G G T TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr17:47587854G>T uc002ioz.3 + 4 774 c.649G>T c.(649-651)GCA>TCA p.A217S NM_002507 NP_002498 P08138 TNR16_HUMAN nerve growth factor receptor precursor 217 Ser/Thr-rich.|Extracellular (Potential). anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm ovary(1)|lung(1) 2 all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17) GGAGCCTGAGGCACCTCCAGA 0.642 NA 5 43 0.00116845 0.00129237 0.021553 1 0 DLGAP1 9229 broad.mit.edu 37 18 3567562 3567562 + Missense_Mutation SNP T T A TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr18:3567562T>A uc002kmf.2 - 6 2050 c.1983A>T c.(1981-1983)GAA>GAT p.E661D DLGAP1_uc010wyz.1_Missense_Mutation_p.E661D|DLGAP1_uc002kme.1_Missense_Mutation_p.E359D|DLGAP1_uc010dkn.2_Missense_Mutation_p.E369D|DLGAP1_uc010wyw.1_Missense_Mutation_p.E367D|DLGAP1_uc010wyx.1_Missense_Mutation_p.E383D|DLGAP1_uc010wyy.1_Missense_Mutation_p.E345D|DLGAP1_uc002kmg.2_Missense_Mutation_p.E359D NM_004746 NP_004737 O14490 DLGP1_HUMAN discs large homolog-associated protein 1 isoform 661 Interaction with DYL2 (By similarity). synaptic transmission cell junction|postsynaptic density|postsynaptic membrane ovary(2)|pancreas(1)|skin(1) 4 Colorectal(8;0.0257) TTTTGTCAGGTTCTTCAGCAT 0.403 NA 10 94 0 0 0.080935 0 0 ZNF229 7772 broad.mit.edu 37 19 44933924 44933924 + Silent SNP C C G TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr19:44933924C>G uc002oze.1 - 6 1466 c.1032G>C c.(1030-1032)GTG>GTC p.V344V ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Silent_p.V338V NM_014518 NP_055333 Q9UJW7 ZN229_HUMAN zinc finger protein 229 344 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|pancreas(1) 4 Prostate(69;0.0352) GCATGTCTCCCACAGGGGCTC 0.498 NA 6 82 0 0 0.021553 0 0 ZNF766 90321 broad.mit.edu 37 19 52794138 52794138 + Missense_Mutation SNP G G A TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr19:52794138G>A uc002pyr.1 + 4 1137 c.1094G>A c.(1093-1095)AGG>AAG p.R365K ZNF766_uc002pys.1_3'UTR|ZNF766_uc002pyt.1_Missense_Mutation_p.R380K NM_001010851 NP_001010851 Q5HY98 ZN766_HUMAN zinc finger protein 766 365 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871) AAAGCTTTTAGGCACAAGTTC 0.393 NA 5 21 0 0 0.014758 0 0 ZNF347 84671 broad.mit.edu 37 19 53644080 53644080 + Missense_Mutation SNP G G C TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr19:53644080G>C uc002qbb.1 - 5 2070 c.2001C>G c.(1999-2001)CAC>CAG p.H667Q ZNF347_uc010eql.1_Missense_Mutation_p.H668Q|ZNF347_uc002qbc.1_Missense_Mutation_p.H668Q NM_032584 NP_115973 Q96SE7 ZN347_HUMAN zinc finger protein 347 667 C2H2-type 15. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0179) GTCTTGCAAGGTGTGAATTCT 0.413 Melanoma(64;205 1597 17324 45721) NA 17 140 0 0 0.043863 0 0 ZNF544 27300 broad.mit.edu 37 19 58757682 58757682 + Missense_Mutation SNP G G A TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr19:58757682G>A uc010euo.2 + 5 523 c.49G>A c.(49-51)GAG>AAG p.E17K ZNF544_uc010eun.1_RNA|ZNF544_uc010yhw.1_RNA|ZNF544_uc010yhx.1_Missense_Mutation_p.E17K|ZNF544_uc010yhy.1_Missense_Mutation_p.E17K|ZNF544_uc002qrt.3_5'UTR|ZNF544_uc002qru.3_5'UTR|ZNF544_uc002qrv.2_RNA NM_014480 NP_055295 Q6NX49 ZN544_HUMAN zinc finger protein 544 17 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018) TGTGTGCTTCGAGGATGTGGC 0.507 NA 13 223 0 0 0.105934 0 0 ZNF8 7554 broad.mit.edu 37 19 58805974 58805974 + Missense_Mutation SNP A A G TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr19:58805974A>G uc002qry.1 + 4 930 c.800A>G c.(799-801)AAC>AGC p.N267S ZNF8_uc002qrz.2_RNA NM_021089 NP_066575 P17098 ZNF8_HUMAN zinc finger protein 8 267 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619) AAGTCGTTTAACCATAACGCA 0.488 NA 7 29 0 0 0.02938 0 0 SNTG2 54221 broad.mit.edu 37 2 1263181 1263181 + Missense_Mutation SNP C C T rs145354756 by1000genomes TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr2:1263181C>T uc002qwq.2 + 13 1173 c.1045C>T c.(1045-1047)CAC>TAC p.H349Y SNTG2_uc010ewi.2_Missense_Mutation_p.H222Y NM_018968 NP_061841 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 349 PH. central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding ovary(1)|large_intestine(1)|breast(1) 3 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) AAGGACCTATCACCTCTGTGA 0.413 NA 4 72 0 0 0.009096 0 0 NLRC4 58484 broad.mit.edu 37 2 32475459 32475459 + Missense_Mutation SNP G G A TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr2:32475459G>A uc002roi.2 - 4 1720 c.1474C>T c.(1474-1476)CGG>TGG p.R492W NLRC4_uc002roj.1_Missense_Mutation_p.R492W|NLRC4_uc010ezt.1_Intron NM_021209 NP_067032 Q9NPP4 NLRC4_HUMAN caspase recruitment domain protein 12 492 activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity ovary(3)|large_intestine(1)|lung(1)|skin(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) CAGGTGTACCGGAGCAGGCTG 0.517 NA 4 44 0 0 0.009096 0 0 CEBPZ 10153 broad.mit.edu 37 2 37430153 37430153 + Splice_Site SNP T T A TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr2:37430153T>A uc002rpz.2 - 14 2915 c.2885_splice c.e14-1 p.G962_splice NM_005760 NP_005751 Q03701 CEBPZ_HUMAN CCAAT/enhancer binding protein zeta regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding pancreas(1) 1 all_hematologic(82;0.21) TTCTTGGCCCTAAAAAAAATT 0.269 NA 3 47 0 0 0.009096 0 0 STK36 27148 broad.mit.edu 37 2 219563892 219563892 + Missense_Mutation SNP C C T rs142956585 TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr2:219563892C>T uc002viu.2 + 26 3891 c.3625C>T c.(3625-3627)CGG>TGG p.R1209W STK36_uc002viv.2_Missense_Mutation_p.R1188W|STK36_uc002viw.2_Missense_Mutation_p.R387W|STK36_uc002vix.2_Missense_Mutation_p.R254W NM_015690 NP_056505 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 1209 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding p.R1209P(1) ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1) 11 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) GGCTGGTATCCGGCGCAATGT 0.592 NA 4 38 0 0 0.009096 0 0 PPP1R16B 26051 broad.mit.edu 37 20 37546833 37546833 + Missense_Mutation SNP G G A TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr20:37546833G>A uc002xje.2 + 11 1417 c.1228G>A c.(1228-1230)GAA>AAA p.E410K PPP1R16B_uc010ggc.2_Missense_Mutation_p.E368K NM_015568 NP_056383 Q96T49 PP16B_HUMAN protein phosphatase 1 regulatory inhibitor 410 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding upper_aerodigestive_tract(1)|kidney(1)|skin(1) 3 Myeloproliferative disorder(115;0.00878) GCTACTCTCCGAATTTCCTAC 0.567 NA 12 148 0 0 0.020292 0 0 TOP1 7150 broad.mit.edu 37 20 39725971 39725971 + Missense_Mutation SNP A A G TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr20:39725971A>G uc002xjl.2 + 10 1088 c.842A>G c.(841-843)GAC>GGC p.D281G TOP1_uc010gge.1_RNA NM_003286 NP_003277 P11387 TOP1_HUMAN DNA topoisomerase I 281 DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug chromosome|nucleolus|nucleoplasm ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding breast(3)|ovary(2)|central_nervous_system(1)|kidney(1) 7 Myeloproliferative disorder(115;0.00878) Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030) TTCTTTAAAGACTGGAGAAAG 0.348 NA T NUP98 AML* 7 97 0 0 0.038147 0 0 IQCB1 9657 broad.mit.edu 37 3 121544968 121544968 + Missense_Mutation SNP A A C TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr3:121544968A>C uc010hre.1 - 5 538 c.323T>G c.(322-324)CTT>CGT p.L108R IQCB1_uc003eek.2_Missense_Mutation_p.L108R|IQCB1_uc010hrf.1_RNA NM_001023570 NP_001018864 Q15051 IQCB1_HUMAN IQ motif containing B1 isoform a 108 cilium assembly|maintenance of organ identity|photoreceptor cell maintenance centrosome|photoreceptor connecting cilium calmodulin binding 0 GBM - Glioblastoma multiforme(114;0.0983) AGCTGATGGAAGTAATTCATT 0.363 NA 14 27 0 0 0.105934 0 0 THAP6 152815 broad.mit.edu 37 4 76442122 76442122 + Missense_Mutation SNP G G C TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr4:76442122G>C uc003him.2 + 3 318 c.221G>C c.(220-222)AGT>ACT p.S74T RCHY1_uc003hij.2_5'Flank|RCHY1_uc003hik.2_5'Flank|RCHY1_uc003hil.2_5'Flank|RCHY1_uc010iip.2_5'Flank|RCHY1_uc010iiq.2_5'Flank|RCHY1_uc010iir.2_5'Flank|THAP6_uc010iis.1_Missense_Mutation_p.S33T|THAP6_uc003hin.2_Missense_Mutation_p.S74T|THAP6_uc011cbm.1_Missense_Mutation_p.S74T|THAP6_uc010iiu.1_RNA|THAP6_uc003hio.1_RNA|THAP6_uc010iiv.2_Missense_Mutation_p.S74T NM_144721 NP_653322 Q8TBB0 THAP6_HUMAN THAP domain containing 6 74 THAP-type. microtubule cytoskeleton DNA binding|metal ion binding 0 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) TTTGACAGAAGTGCTCCAAAT 0.393 NA 5 73 0 0 0.014758 0 0 ADAMTS6 11174 broad.mit.edu 37 5 64748738 64748738 + Silent SNP T T G TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr5:64748738T>G uc003jtp.2 - 5 1453 c.639A>C c.(637-639)ACA>ACC p.T213T ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_5'UTR NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN ADAM metallopeptidase with thrombospondin type 1 213 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) TGCCACTTCTTGTGAAATCTA 0.348 NA 6 105 0 0 0.02938 0 0 MAST4 375449 broad.mit.edu 37 5 66400349 66400349 + Silent SNP C C T TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr5:66400349C>T uc003jut.1 + 9 803 c.735C>T c.(733-735)ATC>ATT p.I245I MAST4_uc003jus.2_Silent_p.I245I|MAST4_uc003juu.1_Silent_p.I255I|MAST4_uc011cra.1_Silent_p.I228I|MAST4_uc010ixa.2_RNA|MAST4_uc003juv.2_Silent_p.I240I|MAST4_uc003juw.2_Silent_p.I240I NM_015183 NP_055998 O15021 MAST4_HUMAN microtubule associated serine/threonine kinase 437 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) AGGGCCTCATCACCTCACGAT 0.413 NA 4 36 0 0 0.014758 0 0 RIOK2 55781 broad.mit.edu 37 5 96503577 96503577 + Missense_Mutation SNP C C T TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr5:96503577C>T uc003kmz.2 - 8 1101 c.991G>A c.(991-993)GGA>AGA p.G331R RIOK2_uc003kna.3_Missense_Mutation_p.G331R NM_018343 NP_060813 Q9BVS4 RIOK2_HUMAN RIO kinase 2 isoform 1 331 Protein kinase. ATP binding|protein serine/threonine kinase activity kidney(1) 1 all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0657) AATTCAGATCCCTCTTTTGTT 0.418 NA 12 250 0 0 0.105934 0 0 RELL2 285613 broad.mit.edu 37 5 141018407 141018407 + Missense_Mutation SNP G G C TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr5:141018407G>C uc003lli.2 + 3 1078 c.230G>C c.(229-231)CGC>CCC p.R77P HDAC3_uc003llf.2_5'Flank|HDAC3_uc010jgd.1_5'Flank|HDAC3_uc010jge.1_5'Flank|RELL2_uc003llh.2_Missense_Mutation_p.R77P|RELL2_uc003llg.2_Missense_Mutation_p.R11P|RELL2_uc010jgf.2_Missense_Mutation_p.R11P NM_001130029 NP_001123501 Q8NC24 RELL2_HUMAN RELT-like 2 77 integral to membrane|plasma membrane 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGATTGTTCGCTGCATCATC 0.507 NA 4 85 0 0 0.014758 0 0 FAM71B 153745 broad.mit.edu 37 5 156589943 156589943 + Missense_Mutation SNP G G A TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr5:156589943G>A uc003lwn.2 - 2 1433 c.1333C>T c.(1333-1335)CAT>TAT p.H445Y NM_130899 NP_570969 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 445 Bipartite nuclear localization signal (Potential). nucleus ovary(4)|pancreas(1)|skin(1) 6 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TTGCGGTGATGAGAACTTTTC 0.502 NA 7 153 0 0 0.047766 0 0 FILIP1 27145 broad.mit.edu 37 6 76023514 76023514 + Silent SNP A A G TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr6:76023514A>G uc003pia.2 - 5 2407 c.2034T>C c.(2032-2034)TCT>TCC p.S678S FILIP1_uc003phy.1_Silent_p.S678S|FILIP1_uc003phz.2_Silent_p.S579S|FILIP1_uc010kbe.2_Silent_p.S681S|FILIP1_uc003pib.1_Silent_p.S430S NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 678 Potential. skin(3)|ovary(1) 4 CTAGTTGTTGAGAGAGGAAGT 0.433 NA 16 248 0 0 0.024245 0 0 FGFR1OP 11116 broad.mit.edu 37 6 167417806 167417806 + Missense_Mutation SNP G G A TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr6:167417806G>A uc003qvj.2 + 5 440 c.355G>A c.(355-357)GCA>ACA p.A119T CCR6_uc003qvl.2_5'UTR|FGFR1OP_uc011egp.1_Missense_Mutation_p.A119T|FGFR1OP_uc003qvk.2_Missense_Mutation_p.A119T NM_007045 NP_008976 O95684 FR1OP_HUMAN FGFR1 oncogene partner isoform a 119 G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation centrosome|cytosol|nucleus|perinuclear region of cytoplasm protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity ovary(1) 1 Breast(66;1.48e-05)|Ovarian(120;0.0607) OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231) TATAATTGAAGCAGAAGGTAC 0.413 NA T FGFR1 MPD|NHL 11 43 0 0 0.069234 0 0 MLLT4 4301 broad.mit.edu 37 6 168299086 168299086 + Missense_Mutation SNP G G A TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr6:168299086G>A uc003qwd.2 + 11 1658 c.1516G>A c.(1516-1518)GCT>ACT p.A506T MLLT4_uc003qwb.1_Missense_Mutation_p.A491T|MLLT4_uc003qwc.1_Missense_Mutation_p.A507T|MLLT4_uc003qwf.2_Missense_Mutation_p.A192T NM_001040001 NP_001035090 P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia 507 adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding ovary(2)|lung(1)|kidney(1)|central_nervous_system(1) 5 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) TCAGGATCATGCTCTTGCAAA 0.453 NA T MLL AL 5 33 0 0 0.02938 0 0 KRIT1 889 broad.mit.edu 37 7 91870326 91870326 + Silent SNP A A T TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr7:91870326A>T uc003ulq.1 - 3 414 c.243T>A c.(241-243)CCT>CCA p.P81P KRIT1_uc010lev.1_5'UTR|KRIT1_uc003ulr.1_Silent_p.P81P|KRIT1_uc003uls.1_Silent_p.P81P|KRIT1_uc003ult.1_Silent_p.P81P|KRIT1_uc003ulu.1_Silent_p.P81P|KRIT1_uc003ulv.1_Silent_p.P81P NM_194456 NP_919438 O00522 KRIT1_HUMAN krev interaction trapped 1 isoform 1 81 angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction cell-cell junction|cytoskeleton protein binding|small GTPase regulator activity ovary(2)|lung(1) 3 all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CCTGGTTTGCAGGAGAAATTG 0.313 NA Familial_Cerebral_Cavernous_Angioma 22 65 0 0 0.076483 0 0 GIGYF1 64599 broad.mit.edu 37 7 100284038 100284038 + Missense_Mutation SNP G G C TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr7:100284038G>C uc003uwg.1 - 8 1722 c.713C>G c.(712-714)GCT>GGT p.A238G NM_022574 NP_072096 O75420 PERQ1_HUMAN PERQ amino acid rich, with GYF domain 1 238 large_intestine(1)|central_nervous_system(1) 2 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) CCGCCAGCCAGCAGAGCGGGG 0.637 NA 3 38 0 0 0.004672 0 0 MET 4233 broad.mit.edu 37 7 116412024 116412024 + Nonsense_Mutation SNP C C G TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr7:116412024C>G uc003vij.2 + 14 3196 c.3009C>G c.(3007-3009)TAC>TAG p.Y1003* MET_uc010lkh.2_Nonsense_Mutation_p.Y1021*|MET_uc011knj.1_Nonsense_Mutation_p.Y573* NM_000245 NP_000236 P08581 MET_HUMAN met proto-oncogene isoform b precursor 1003 Cytoplasmic (Potential). axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding p.L982_D1028del(3)|p.D981_D1028del(1)|p.982_1028del47(1)|p.?(1) upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1) 159 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) CTGTAGACTACCGAGCTACTT 0.383 NA Mis papillary renal|head-neck squamous cell papillary renal Hereditary_Papillary_Renal_Carcinoma_(type_1) 6 34 0 0 0.02938 0 0 ADCY8 114 broad.mit.edu 37 8 132052081 132052081 + Missense_Mutation SNP C C G TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr8:132052081C>G uc003ytd.3 - 1 755 c.499G>C c.(499-501)GAA>CAA p.E167Q ADCY8_uc010mds.2_Missense_Mutation_p.E167Q NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 167 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 membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) TAGAGGCGTTCCAAATCCCGA 0.527 NA HNSCC(32;0.087) 13 91 0 0 0.024245 0 0 ZNF623 9831 broad.mit.edu 37 8 144733396 144733396 + Missense_Mutation SNP A A T TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr8:144733396A>T uc003yzd.2 + 1 1443 c.1354A>T c.(1354-1356)ATT>TTT p.I452F ZNF623_uc011lkp.1_Missense_Mutation_p.I412F|ZNF623_uc003yzc.2_Missense_Mutation_p.I412F NM_014789 NP_055604 O75123 ZN623_HUMAN zinc finger protein 623 isoform 1 452 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) GCACCAGATTATTCACACTGG 0.463 NA 5 86 0 0 0.014758 0 0 TESK1 7016 broad.mit.edu 37 9 35608495 35608495 + Missense_Mutation SNP C C T TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr9:35608495C>T uc003zxa.2 + 9 1325 c.989C>T c.(988-990)ACA>ATA p.T330I TESK1_uc003zwz.1_RNA|TESK1_uc010mks.2_Missense_Mutation_p.T170I NM_006285 NP_006276 Q15569 TESK1_HUMAN testis-specific protein kinase 1 330 cell junction assembly|spermatogenesis cytosol ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1) 7 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) ACCGCCCTGACACACAATCAG 0.572 NA 4 13 0 0 0.021553 0 0 FOXB2 442425 broad.mit.edu 37 9 79634826 79634826 + Missense_Mutation SNP T T C TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr9:79634826T>C uc004ako.1 + 1 256 c.256T>C c.(256-258)TTC>CTC p.F86L NM_001013735 NP_001013757 Q5VYV0 FOXB2_HUMAN forkhead box B2 86 Fork-head. brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 CAAGGGTAGCTTCTGGGCGCT 0.632 NA 3 24 0 0 0.009096 0 0 AKAP4 8852 broad.mit.edu 37 X 49955748 49955748 + Missense_Mutation SNP A A G TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chrX:49955748A>G uc004dow.1 - 6 2544 c.2420T>C c.(2419-2421)GTT>GCT p.V807A AKAP4_uc004dov.1_Missense_Mutation_p.V424A|AKAP4_uc010njp.1_Missense_Mutation_p.V629A|AKAP4_uc004dou.1_Missense_Mutation_p.V798A NM_003886 NP_003877 Q5JQC9 AKAP4_HUMAN A-kinase anchor protein 4 isoform 1 807 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 8 Ovarian(276;0.236) TTTAGCTGAAACCTGAGGAAG 0.507 NA 7 130 0 0 0.038147 0 0 ZC3H12B 340554 broad.mit.edu 37 X 64722914 64722914 + Missense_Mutation SNP T T C TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chrX:64722914T>C uc010nko.2 + 5 2312 c.2303T>C c.(2302-2304)ATG>ACG p.M768T NM_001010888 NP_001010888 Q5HYM0 ZC12B_HUMAN zinc finger CCCH-type containing 12B 768 endonuclease activity|nucleic acid binding|zinc ion binding lung(1)|kidney(1)|pancreas(1) 3 TGGGTTGGAATGTGCAATGAT 0.478 NA 13 76 0 0 0.09319 0 0 MAGEE2 139599 broad.mit.edu 37 X 75004327 75004327 + Missense_Mutation SNP A A C TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chrX:75004327A>C uc004ecj.1 - 1 745 c.560T>G c.(559-561)ATC>AGC p.I187S NM_138703 NP_619648 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 187 MAGE 1. ovary(1)|skin(1) 2 ATTCAAGAGGATGTGGCCTAG 0.502 NA 5 41 0 0 0.014758 0 0 TRMT2B 79979 broad.mit.edu 37 X 100274014 100274014 + Missense_Mutation SNP G G A TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chrX:100274014G>A uc004egq.2 - 12 1633 c.1334C>T c.(1333-1335)ACG>ATG p.T445M TRMT2B_uc004egp.2_RNA|TRMT2B_uc004egr.2_Missense_Mutation_p.T445M|TRMT2B_uc004egs.2_Missense_Mutation_p.T445M|TRMT2B_uc004egt.2_Missense_Mutation_p.T445M|TRMT2B_uc004egu.2_Missense_Mutation_p.T326M|TRMT2B_uc004egv.2_Missense_Mutation_p.T400M NM_024917 NP_079193 Q96GJ1 TRM2_HUMAN TRM2 tRNA methyltransferase 2 homolog B 445 tRNA (uracil-5-)-methyltransferase activity ovary(1) 1 AAAAACTAGCGTGTGGATGGC 0.348 NA 7 136 0 0 0.047766 0 0 AMOT 154796 broad.mit.edu 37 X 112024327 112024327 + Missense_Mutation SNP G G T TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chrX:112024327G>T uc004epr.2 - 9 2260 c.2260C>A c.(2260-2262)CAG>AAG p.Q754K AMOT_uc004eps.2_Missense_Mutation_p.Q345K|AMOT_uc011mtc.1_5'UTR|hsa-mir-4329|MI0015901_5'Flank NM_001113490 NP_001106962 Q4VCS5 AMOT_HUMAN angiomotin isoform 1 754 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction angiostatin binding|protein binding|receptor activity ovary(1) 1 TCAATAATCTGGGCATGGAGG 0.413 NA 13 162 4.36969e-10 5.06329e-10 0.105934 1 0 VBP1 7411 broad.mit.edu 37 X 154456758 154456758 + Missense_Mutation SNP G G T TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chrX:154456758G>T uc004fnc.2 + 4 437 c.378G>T c.(376-378)TGG>TGT p.W126C VBP1_uc004fnd.2_Missense_Mutation_p.W89C NM_003372 NP_003363 P61758 PFD3_HUMAN von Hippel-Lindau binding protein 1 126 'de novo' posttranslational protein folding nucleus|prefoldin complex unfolded protein binding 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TGTGTCTGTGGTTGGGGGTAA 0.398 NA 11 155 6.40141e-05 7.30161e-05 0.080935 1 0 PHLDA2 7262 broad.mit.edu 37 11 2950237 2950238 + Frame_Shift_Ins INS - - G TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr11:2950237_2950238insG uc001lxa.1 - 1 413_414 c.357_358insC c.(355-360)CCCGCCfs p.P119fs NM_003311 NP_003302 Q53GA4 PHLA2_HUMAN pleckstrin homology-like domain family A member 119_120 apoptosis cytoplasm|membrane 0 all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198) BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19) GCGGGTGCGGCGGGTGCGGTGC 0.743 NA 2 4 --- --- --- --- NA NA NA NA NA