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_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut WHSC1 7468 broad.mit.edu 37 4 1902634 1902634 + Missense_Mutation SNP C C G TCGA-VN-A943-01A-11D-A41K-08 TCGA-VN-A943-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1befde85-bf60-46a5-88b0-f6319b14a2fe ac89aa0d-1731-4467-9eb3-57726a089b7f g.chr4:1902634C>G ENST00000503128.1 + 2 460 c.253C>G c.(253-255)Cgg>Ggg p.R85G WHSC1_ENST00000514045.1_Missense_Mutation_p.R85G|WHSC1_ENST00000382891.5_Missense_Mutation_p.R85G|WHSC1_ENST00000508803.1_Missense_Mutation_p.R85G|WHSC1_ENST00000436793.1_Missense_Mutation_p.R85G|WHSC1_ENST00000420906.2_Missense_Mutation_p.R85G|WHSC1_ENST00000398261.1_Missense_Mutation_p.R85G|WHSC1_ENST00000382892.2_Missense_Mutation_p.R85G|WHSC1_ENST00000382895.3_Missense_Mutation_p.R85G O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 85 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 48 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) TCTTACTTCCCGGGTGTTTAA 0.542000 T IGH@ MM 5 48 0 0 1 0 0 SHROOM4 57477 broad.mit.edu 37 X 50377643 50377643 + Missense_Mutation SNP G G T TCGA-VN-A943-01A-11D-A41K-08 TCGA-VN-A943-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1befde85-bf60-46a5-88b0-f6319b14a2fe ac89aa0d-1731-4467-9eb3-57726a089b7f g.chrX:50377643G>T ENST00000376020.2 - 4 1455 c.1430C>A c.(1429-1431)aCc>aAc p.T477N SHROOM4_ENST00000460112.3_Missense_Mutation_p.T361N|SHROOM4_ENST00000289292.7_Missense_Mutation_p.T477N NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 477 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) CACTTGTCTGGTCTTTCTTTC 0.527000 54 5 2.48254e-18 3.04111e-18 1 1 0 HELZ2 85441 broad.mit.edu 37 20 62200342 62200342 + Missense_Mutation SNP G G A TCGA-VN-A943-01A-11D-A41K-08 TCGA-VN-A943-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1befde85-bf60-46a5-88b0-f6319b14a2fe ac89aa0d-1731-4467-9eb3-57726a089b7f g.chr20:62200342G>A ENST00000467148.1 - 5 1168 c.1099C>T c.(1099-1101)Cgg>Tgg p.R367W NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator ACCTGGCCCCGCAGGGTCAGC 0.692000 3 29 0 0 1 0 0 PPARD 5467 broad.mit.edu 37 6 35392557 35392557 + Missense_Mutation SNP G G T TCGA-VN-A943-01A-11D-A41K-08 TCGA-VN-A943-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1befde85-bf60-46a5-88b0-f6319b14a2fe ac89aa0d-1731-4467-9eb3-57726a089b7f g.chr6:35392557G>T ENST00000337400.2 + 8 1428 c.1079G>T c.(1078-1080)gGt>gTt p.G360V PPARD_ENST00000448077.2_Splice_Site|PPARD_ENST00000444397.1_Missense_Mutation_p.G360V|PPARD_ENST00000418635.2_Splice_Site|PPARD_ENST00000360694.3_Splice_Site|PPARD_ENST00000540939.1_Splice_Site|PPARD_ENST00000311565.4_Splice_Site Q03181 PPARD_HUMAN peroxisome proliferator-activated receptor delta 0 Ligand-binding. apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374) CTGTGTGGAGGTGAGTGAGAG 0.572000 14 25 1.5842e-08 1.80525e-08 1 1 0 TUBB8P7 0 broad.mit.edu 37 16 90162224 90162224 + RNA SNP G G A TCGA-VN-A943-01A-11D-A41K-08 TCGA-VN-A943-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1befde85-bf60-46a5-88b0-f6319b14a2fe ac89aa0d-1731-4467-9eb3-57726a089b7f g.chr16:90162224G>A ENST00000567960.1 + 0 960 TUBB8P7_ENST00000564451.1_RNA TTCAGGGGTCGCATGCCCATG 0.527000 4 158 0 0 1 0 0 PTCHD4 442213 broad.mit.edu 37 6 47976814 47976814 + Missense_Mutation SNP C C T TCGA-VN-A943-01A-11D-A41K-08 TCGA-VN-A943-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1befde85-bf60-46a5-88b0-f6319b14a2fe ac89aa0d-1731-4467-9eb3-57726a089b7f g.chr6:47976814C>T ENST00000543600.1 - 2 451 c.412G>A c.(412-414)Ggg>Agg p.G138R PTCHD4_ENST00000339488.4_Missense_Mutation_p.G155R Q6ZW05 CF138_HUMAN patched domain containing 4 155 integral to membrane hedgehog receptor activity TCCACTACCCCGCCCAGTTGG 0.468000 4 30 0 0 1 0 0 NFE2L3 9603 broad.mit.edu 37 7 26224261 26224261 + Missense_Mutation SNP C C T TCGA-VN-A943-01A-11D-A41K-08 TCGA-VN-A943-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1befde85-bf60-46a5-88b0-f6319b14a2fe ac89aa0d-1731-4467-9eb3-57726a089b7f g.chr7:26224261C>T ENST00000056233.3 + 4 1202 c.943C>T c.(943-945)Ctt>Ttt p.L315F NM_004289.6 NP_004280.5 Q9Y4A8 NF2L3_HUMAN nuclear factor, erythroid 2-like 3 315 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7) 29 GGATGTGAATCTTCATGAGGC 0.408000 4 102 0 0 1 0 0 HHIPL2 79802 broad.mit.edu 37 1 222713413 222713413 + Silent SNP G G T TCGA-VN-A943-01A-11D-A41K-08 TCGA-VN-A943-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1befde85-bf60-46a5-88b0-f6319b14a2fe ac89aa0d-1731-4467-9eb3-57726a089b7f g.chr1:222713413G>T ENST00000343410.6 - 4 1447 c.1389C>A c.(1387-1389)ggC>ggA p.G463G NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 463 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) TTGCTCTCCAGCCATAGTTTC 0.488000 5 104 1 1 1 1 0 FAM134C 162427 broad.mit.edu 37 17 40734779 40734779 + Missense_Mutation SNP C C G TCGA-VN-A943-01A-11D-A41K-08 TCGA-VN-A943-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1befde85-bf60-46a5-88b0-f6319b14a2fe ac89aa0d-1731-4467-9eb3-57726a089b7f g.chr17:40734779C>G ENST00000309428.5 - 8 915 c.856G>C c.(856-858)Gag>Cag p.E286Q FAM134C_ENST00000585894.1_Missense_Mutation_p.E189Q|FAM134C_ENST00000543197.1_Missense_Mutation_p.E91Q NM_178126.3 NP_835227.1 Q86VR2 F134C_HUMAN family with sequence similarity 134, member C 286 integral to membrane endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 11 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.134) TCTGAGTGCTCAGAGTCTGTG 0.493000 5 134 0 0 1 0 0 LSAMP 4045 broad.mit.edu 37 3 115805294 115805294 + Missense_Mutation SNP G G A TCGA-VN-A943-01A-11D-A41K-08 TCGA-VN-A943-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1befde85-bf60-46a5-88b0-f6319b14a2fe ac89aa0d-1731-4467-9eb3-57726a089b7f g.chr3:115805294G>A ENST00000490035.1 - 2 764 c.265C>T c.(265-267)Cgc>Tgc p.R89C LSAMP_ENST00000539563.1_Missense_Mutation_p.R86C NM_002338.3 NP_002329.2 Q13449 LSAMP_HUMAN limbic system-associated membrane protein 89 Ig-like C2-type 1. cell adhesion|nervous system development anchored to membrane|plasma membrane NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215) GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152) AGAGAATGGCGTTTCTCCAGC 0.507000 24 20 0 0 1 0 0 IFT46 56912 broad.mit.edu 37 11 118427747 118427747 + Missense_Mutation SNP G G C rs144091431 by1000genomes TCGA-VN-A943-01A-11D-A41K-08 TCGA-VN-A943-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1befde85-bf60-46a5-88b0-f6319b14a2fe ac89aa0d-1731-4467-9eb3-57726a089b7f g.chr11:118427747G>C ENST00000264020.2 - 5 589 c.212C>G c.(211-213)aCc>aGc p.T71S IFT46_ENST00000264021.3_Missense_Mutation_p.T20S|IFT46_ENST00000530872.1_Missense_Mutation_p.T71S NM_020153.3 NP_064538.3 Q9NQC8 IFT46_HUMAN intraflagellar transport 46 homolog (Chlamydomonas) 20 flagellum assembly|intraflagellar transport|protein stabilization microtubule basal body|microtubule-based flagellum|nucleus protein C-terminus binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 9 CAACTGTGAGGTCTTCTTCTT 0.408000 16 15 0 0 1 0 0 NCOR2 9612 broad.mit.edu 37 12 124824556 124824556 + Silent SNP G G A TCGA-VN-A943-01A-11D-A41K-08 TCGA-VN-A943-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1befde85-bf60-46a5-88b0-f6319b14a2fe ac89aa0d-1731-4467-9eb3-57726a089b7f g.chr12:124824556G>A ENST00000356219.3 - 38 5859 c.5704C>T c.(5704-5706)Ctg>Ttg p.L1902L NCOR2_ENST00000404621.1_Silent_p.L1885L|NCOR2_ENST00000404121.2_Silent_p.L1456L|NCOR2_ENST00000429285.2_Silent_p.L1885L|NCOR2_ENST00000397355.1_Silent_p.L1886L|NCOR2_ENST00000405201.1_Silent_p.L1895L NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 1906 T -> K (in Ref. 2; AAD20946, 3; AAD22973, 4; AAX77219 and 8; AAC50236). 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 breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 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) GCCCACCTCAGGACCGTGGGC 0.622000 9 21 0 0 1 0 0 XKR7 343702 broad.mit.edu 37 20 30584394 30584394 + Missense_Mutation SNP C C T TCGA-VN-A943-01A-11D-A41K-08 TCGA-VN-A943-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1befde85-bf60-46a5-88b0-f6319b14a2fe ac89aa0d-1731-4467-9eb3-57726a089b7f g.chr20:30584394C>T ENST00000217299.3 + 3 1048 c.874C>T c.(874-876)Cgg>Tgg p.R292W NM_001011718.1 NP_001011718.1 Q5GH72 XKR7_HUMAN XK, Kell blood group complex subunit-related family, member 7 292 integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) GGACGACAAGCGGCCGCTGTC 0.682000 4 39 0 0 1 0 0 ZNF878 729747 broad.mit.edu 37 19 12155757 12155757 + Missense_Mutation SNP C C A TCGA-VN-A943-01A-11D-A41K-08 TCGA-VN-A943-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1befde85-bf60-46a5-88b0-f6319b14a2fe ac89aa0d-1731-4467-9eb3-57726a089b7f g.chr19:12155757C>A ENST00000602107.1 - 5 599 c.600G>T c.(598-600)agG>agT p.R200S CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.R153S C9JN71 ZN878_HUMAN zinc finger protein 878 153 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 AACTGGGAAACCTGAATGCTT 0.423000 5 144 0.00116845 0.00121817 1 1 0 OPN1LW 5956 broad.mit.edu 37 X 153420113 153420113 + Missense_Mutation SNP G G A TCGA-VN-A943-01A-11D-A41K-08 TCGA-VN-A943-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1befde85-bf60-46a5-88b0-f6319b14a2fe ac89aa0d-1731-4467-9eb3-57726a089b7f g.chrX:153420113G>A ENST00000369951.4 + 4 703 c.643G>A c.(643-645)Ggg>Agg p.G215R OPN1LW_ENST00000463296.1_Intron NM_020061.4 NP_064445.1 P04000 OPSR_HUMAN opsin 1 (cone pigments), long-wave-sensitive 215 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1) 15 all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CTCGTACCCCGGGGTGCAGTC 0.607000 30 34 0 0 1 0 0 XCL2 6846 broad.mit.edu 37 1 168510202 168510202 + Silent SNP G G A rs149372418 byFrequency TCGA-VN-A943-01A-11D-A41K-08 TCGA-VN-A943-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1befde85-bf60-46a5-88b0-f6319b14a2fe ac89aa0d-1731-4467-9eb3-57726a089b7f g.chr1:168510202G>A ENST00000367819.2 - 3 365 c.333C>T c.(331-333)acC>acT p.T111T NM_003175.3 NP_003166.1 Q9UBD3 XCL2_HUMAN chemokine (C motif) ligand 2 111 blood circulation|chemotaxis|immune response|signal transduction extracellular space chemokine activity p.T111T(1) large_intestine(1)|lung(6)|ovary(1) 8 all_hematologic(923;0.215) AGCCAGTCAGGGTCACAGCTG 0.498000 3 38 0 0 1 0 0 ACTL6A 86 broad.mit.edu 37 3 179287979 179287979 + Missense_Mutation SNP G G A TCGA-VN-A943-01A-11D-A41K-08 TCGA-VN-A943-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1befde85-bf60-46a5-88b0-f6319b14a2fe ac89aa0d-1731-4467-9eb3-57726a089b7f g.chr3:179287979G>A ENST00000429709.2 + 3 440 c.227G>A c.(226-228)cGt>cAt p.R76H ACTL6A_ENST00000450518.2_Missense_Mutation_p.R34H|ACTL6A_ENST00000392662.1_Missense_Mutation_p.R34H NM_004301.3 NP_004292.1 O96019 ACL6A_HUMAN actin-like 6A 76 chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex ATP binding|chromatin binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1) 21 all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169) AATGCTCTGCGTGTTCCGAGG 0.418000 6 69 0 0 1 0 0 KCNH1 3756 broad.mit.edu 37 1 211093037 211093037 + Silent SNP G G A TCGA-VN-A943-01A-11D-A41K-08 TCGA-VN-A943-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1befde85-bf60-46a5-88b0-f6319b14a2fe ac89aa0d-1731-4467-9eb3-57726a089b7f g.chr1:211093037G>A ENST00000367007.4 - 7 1495 c.1326C>T c.(1324-1326)atC>atT p.I442I KCNH1_ENST00000271751.4_Silent_p.I469I NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 469 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) TGGATGGGGCGATGTTCCCAA 0.507000 4 98 0 0 1 0 0 GOLGA6L7P 0 broad.mit.edu 37 15 29092257 29092257 + RNA SNP C C T rs75388271 by1000genomes TCGA-VN-A943-01A-11D-A41K-08 TCGA-VN-A943-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1befde85-bf60-46a5-88b0-f6319b14a2fe ac89aa0d-1731-4467-9eb3-57726a089b7f g.chr15:29092257C>T ENST00000569815.1 - 0 258 NR_047567.1 TCAGGGTTAGCGCCATGATTT 0.547000 4 30 0 0 1 0 0 AGO3 192669 broad.mit.edu 37 1 36474313 36474313 + Silent SNP T T C TCGA-VN-A943-01A-11D-A41K-08 TCGA-VN-A943-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1befde85-bf60-46a5-88b0-f6319b14a2fe ac89aa0d-1731-4467-9eb3-57726a089b7f g.chr1:36474313T>C ENST00000373191.4 + 7 1165 c.816T>C c.(814-816)caT>caC p.H272H AGO3_ENST00000246314.6_Silent_p.H38H|RP4-665N4.8_ENST00000466576.2_RNA NM_024852.3 NP_079128.2 argonaute RISC catalytic component 3 AAGTGACTCATTGTGGAACAA 0.398000 4 65 0 0 1 0 0 APTX 54840 broad.mit.edu 37 9 32973551 32973551 + Missense_Mutation SNP A A C TCGA-VN-A943-01A-11D-A41K-08 TCGA-VN-A943-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1befde85-bf60-46a5-88b0-f6319b14a2fe ac89aa0d-1731-4467-9eb3-57726a089b7f g.chr9:32973551A>C ENST00000379817.2 - 7 1170 c.974T>G c.(973-975)cTg>cGg p.L325R APTX_ENST00000476858.1_Missense_Mutation_p.L285R|APTX_ENST00000379813.3_Missense_Mutation_p.L325R|APTX_ENST00000463596.1_Missense_Mutation_p.L325R|APTX_ENST00000309615.3_3'UTR|APTX_ENST00000397172.3_Missense_Mutation_p.L267R|APTX_ENST00000379825.2_3'UTR|APTX_ENST00000468275.1_Missense_Mutation_p.L325R|APTX_ENST00000436040.2_3'UTR|APTX_ENST00000379819.1_Missense_Mutation_p.L339R Q7Z2E3 APTX_HUMAN aprataxin 339 cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair chromatin|nucleolus|nucleoplasm chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding endometrium(1)|lung(1)|ovary(2)|prostate(2) 6 LUSC - Lung squamous cell carcinoma(29;0.0302) GBM - Glioblastoma multiforme(74;0.105) GGAAGGCAGCAGCTGCTGGCA 0.552000 Editing and processing nucleases 8 37 0 0 1 0 0 CRYBB2 1415 broad.mit.edu 37 22 25627656 25627656 + Missense_Mutation SNP G G T TCGA-VN-A943-01A-11D-A41K-08 TCGA-VN-A943-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1befde85-bf60-46a5-88b0-f6319b14a2fe ac89aa0d-1731-4467-9eb3-57726a089b7f g.chr22:25627656G>T ENST00000398215.2 + 6 706 c.535G>T c.(535-537)Gcc>Tcc p.A179S NM_000496.2 NP_000487.1 P43320 CRBB2_HUMAN crystallin, beta B2 179 Beta/gamma crystallin 'Greek key' 4. response to stimulus|visual perception structural constituent of eye lens endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1) 10 CGACTTTGGGGCCCCTCACCC 0.652000 36 41 1.06647e-15 1.27456e-15 1 1 0 SCN1A 6323 broad.mit.edu 37 2 166848827 166848827 + Missense_Mutation SNP G G A TCGA-VN-A943-01A-11D-A41K-08 TCGA-VN-A943-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1befde85-bf60-46a5-88b0-f6319b14a2fe ac89aa0d-1731-4467-9eb3-57726a089b7f g.chr2:166848827G>A ENST00000423058.2 - 26 4975 c.4958C>T c.(4957-4959)gCa>gTa p.A1653V SCN1A_ENST00000303395.4_Missense_Mutation_p.A1653V|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.A1625V|SCN1A_ENST00000375405.3_Missense_Mutation_p.A1642V NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1653 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GATCCCCTTTGCTCCTTTGAT 0.498000 26 47 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39753017 39753017 + Missense_Mutation SNP G G A TCGA-VN-A943-01A-11D-A41K-08 TCGA-VN-A943-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1befde85-bf60-46a5-88b0-f6319b14a2fe ac89aa0d-1731-4467-9eb3-57726a089b7f g.chr1:39753017G>A ENST00000564288.1 + 15 2345 c.1568G>A c.(1567-1569)cGg>cAg p.R523Q MACF1_ENST00000545844.1_Missense_Mutation_p.R528Q|MACF1_ENST00000361689.2_Missense_Mutation_p.R528Q|MACF1_ENST00000539005.1_Missense_Mutation_p.R528Q|MACF1_ENST00000567887.1_Missense_Mutation_p.R560Q|MACF1_ENST00000372915.3_Missense_Mutation_p.R528Q|MACF1_ENST00000317713.7_Missense_Mutation_p.R528Q Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 528 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AACCTGTACCGGAAGGGTCAT 0.438000 4 137 0 0 1 0 0 RRN3P1 0 broad.mit.edu 37 16 21817457 21817457 + RNA SNP G G A rs150520281 by1000genomes TCGA-VN-A943-01A-11D-A41K-08 TCGA-VN-A943-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1befde85-bf60-46a5-88b0-f6319b14a2fe ac89aa0d-1731-4467-9eb3-57726a089b7f g.chr16:21817457G>A ENST00000546471.1 - 0 1601 CTTACATCCAGCTTGAGTAGT 0.259000 11 65 0 0 1 0 0 KRTAP19-4 337971 broad.mit.edu 37 21 31869332 31869332 + Missense_Mutation SNP G G A TCGA-VN-A943-01A-11D-A41K-08 TCGA-VN-A943-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1befde85-bf60-46a5-88b0-f6319b14a2fe ac89aa0d-1731-4467-9eb3-57726a089b7f g.chr21:31869332G>A ENST00000334058.2 - 1 119 c.97C>T c.(97-99)Cgc>Tgc p.R33C NM_181610.1 NP_853641.1 Q3LI73 KR194_HUMAN keratin associated protein 19-4 33 intermediate filament p.R33C(1) central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 CCCAGTCTGCGGAAGCTGCCA 0.532000 4 118 0 0 1 0 0 SPOCK3 50859 broad.mit.edu 37 4 167713337 167713337 + Silent SNP C C T TCGA-VN-A943-01A-11D-A41K-08 TCGA-VN-A943-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1befde85-bf60-46a5-88b0-f6319b14a2fe ac89aa0d-1731-4467-9eb3-57726a089b7f g.chr4:167713337C>T ENST00000357154.3 - 8 839 c.702G>A c.(700-702)ctG>ctA p.L234L SPOCK3_ENST00000504953.1_Silent_p.L231L|SPOCK3_ENST00000512648.1_Silent_p.L231L|SPOCK3_ENST00000357545.4_Silent_p.L231L|SPOCK3_ENST00000535728.1_Intron|SPOCK3_ENST00000541637.1_Silent_p.L136L|SPOCK3_ENST00000511531.1_Silent_p.L234L|SPOCK3_ENST00000534949.1_Silent_p.L138L|SPOCK3_ENST00000541354.1_Silent_p.L114L|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512681.1_Silent_p.L136L|SPOCK3_ENST00000502330.1_Silent_p.L234L|SPOCK3_ENST00000510741.1_Intron|SPOCK3_ENST00000511269.1_Silent_p.L231L|SPOCK3_ENST00000506886.1_Silent_p.L234L|SPOCK3_ENST00000421836.2_Silent_p.L183L NM_016950.2 NP_058646.2 Q9BQ16 TICN3_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 234 signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 38 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) TCTCAGGCCTCAGCAATGTTT 0.398000 28 44 0 0 1 0 0 KCNAB1 7881 broad.mit.edu 37 3 156009785 156009785 + Missense_Mutation SNP C C G TCGA-VN-A943-01A-11D-A41K-08 TCGA-VN-A943-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1befde85-bf60-46a5-88b0-f6319b14a2fe ac89aa0d-1731-4467-9eb3-57726a089b7f g.chr3:156009785C>G ENST00000302490.8 + 1 960 c.89C>G c.(88-90)cCc>cGc p.P30R KCNAB1_ENST00000490337.1_Intron|KCNAB1_ENST00000471742.1_Intron|KCNAB1_ENST00000389634.5_Missense_Mutation_p.P30R|KCNAB1_ENST00000389636.5_Intron NM_172159.3 NP_751891.1 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 1 49 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) TCCACCGCCCCCAATGTGGTG 0.577000 4 44 0 0 1 0 0 ADAD2 161931 broad.mit.edu 37 16 84230300 84230300 + Missense_Mutation SNP G G A rs142962765 byFrequency TCGA-VN-A943-01A-11D-A41K-08 TCGA-VN-A943-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1befde85-bf60-46a5-88b0-f6319b14a2fe ac89aa0d-1731-4467-9eb3-57726a089b7f g.chr16:84230300G>A ENST00000268624.3 + 10 1913 c.1820G>A c.(1819-1821)cGg>cAg p.R607Q RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|ADAD2_ENST00000315906.5_Missense_Mutation_p.R525Q|RP11-486L19.2_ENST00000536986.1_RNA NM_139174.3 NP_631913.3 Q8NCV1 ADAD2_HUMAN adenosine deaminase domain containing 2 525 RNA processing intracellular adenosine deaminase activity|double-stranded RNA binding p.R607Q(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1) 13 TCCTTTCTCCGGGCCTTTCAC 0.637000 26 38 0 0 1 0 0 MFSD12 126321 broad.mit.edu 37 19 3551146 3551146 + Silent SNP G G A TCGA-VN-A943-01A-11D-A41K-08 TCGA-VN-A943-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1befde85-bf60-46a5-88b0-f6319b14a2fe ac89aa0d-1731-4467-9eb3-57726a089b7f g.chr19:3551146G>A ENST00000355415.2 - 2 514 c.345C>T c.(343-345)tgC>tgT p.C115C AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000591878.1_5'UTR|MFSD12_ENST00000389395.3_Silent_p.C115C|MFSD12_ENST00000398558.4_Silent_p.C115C NM_174983.3 NP_778148.2 Q6NUT3 CS028_HUMAN major facilitator superfamily domain containing 12 115 transmembrane transport integral to membrane cervix(1)|endometrium(2)|lung(4)|urinary_tract(2) 9 CACAGCCCAGGCAGGGGCTGA 0.667000 13 14 0 0 1 0 0 NOTCH4 4855 broad.mit.edu 37 6 32185012 32185012 + Silent SNP G G A TCGA-VN-A943-01A-11D-A41K-08 TCGA-VN-A943-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1befde85-bf60-46a5-88b0-f6319b14a2fe ac89aa0d-1731-4467-9eb3-57726a089b7f g.chr6:32185012G>A ENST00000375023.3 - 10 1794 c.1656C>T c.(1654-1656)atC>atT p.I552I NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 552 EGF-like 14; calcium-binding (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 TGCACTCATCGATATCCTCCT 0.622000 5 7 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22154884 22154884 + Silent SNP T T C TCGA-VN-A943-01A-11D-A41K-08 TCGA-VN-A943-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1befde85-bf60-46a5-88b0-f6319b14a2fe ac89aa0d-1731-4467-9eb3-57726a089b7f g.chr19:22154884T>C ENST00000397126.4 - 4 3100 c.2952A>G c.(2950-2952)acA>acG p.T984T ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) GGATTGAGAATGTACTAAAGC 0.358000 3 58 0 0 1 0 0 USP44 84101 broad.mit.edu 37 12 95914854 95914854 + Missense_Mutation SNP C C A TCGA-VN-A943-01A-11D-A41K-08 TCGA-VN-A943-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1befde85-bf60-46a5-88b0-f6319b14a2fe ac89aa0d-1731-4467-9eb3-57726a089b7f g.chr12:95914854C>A ENST00000258499.3 - 5 2146 c.1858G>T c.(1858-1860)Gac>Tac p.D620Y USP44_ENST00000552440.1_Intron|USP44_ENST00000537435.2_Missense_Mutation_p.D620Y|USP44_ENST00000393091.2_Missense_Mutation_p.D620Y NM_001278393.1|NM_032147.2 NP_001265322.1|NP_115523.2 Q9H0E7 UBP44_HUMAN ubiquitin specific peptidase 44 620 anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 36 GCGGACAAGTCATAGATAAAG 0.453000 21 53 4.35082e-09 5.07595e-09 1 1 0 MAGEC1 9947 broad.mit.edu 37 X 140995016 140995016 + Missense_Mutation SNP T T A TCGA-VN-A943-01A-11D-A41K-08 TCGA-VN-A943-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1befde85-bf60-46a5-88b0-f6319b14a2fe ac89aa0d-1731-4467-9eb3-57726a089b7f g.chrX:140995016T>A ENST00000285879.4 + 4 2112 c.1826T>A c.(1825-1827)cTc>cAc p.L609H MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 609 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) ATGTCTCCTCTCTACTTTCCT 0.572000 HNSCC(15;0.026) 4 146 0 0 1 0 0 REV1 51455 broad.mit.edu 37 2 100020239 100020239 + Missense_Mutation SNP G G T TCGA-VN-A943-01A-11D-A41K-08 TCGA-VN-A943-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1befde85-bf60-46a5-88b0-f6319b14a2fe ac89aa0d-1731-4467-9eb3-57726a089b7f g.chr2:100020239G>T ENST00000258428.3 - 19 3313 c.3085C>A c.(3085-3087)Cag>Aag p.Q1029K REV1_ENST00000393445.3_Missense_Mutation_p.Q1028K|REV1_ENST00000465835.1_5'UTR NM_001037872.1|NM_016316.2 NP_001032961.1|NP_057400.1 Q9UBZ9 REV1_HUMAN REV1, polymerase (DNA directed) 1029 DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 AGCTCCCTCTGAAGTTCAGCA 0.517000 Direct reversal of damage 16 39 0.00400662 0.0040901 1 1 0 TTI1 9675 broad.mit.edu 37 20 36641587 36641587 + Missense_Mutation SNP G G C TCGA-VN-A943-01A-11D-A41K-08 TCGA-VN-A943-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1befde85-bf60-46a5-88b0-f6319b14a2fe ac89aa0d-1731-4467-9eb3-57726a089b7f g.chr20:36641587G>C ENST00000373448.2 - 3 870 c.632C>G c.(631-633)cCt>cGt p.P211R TTI1_ENST00000487362.1_Intron|TTI1_ENST00000449821.1_Missense_Mutation_p.P211R|TTI1_ENST00000373447.3_Missense_Mutation_p.P211R NM_014657.1 NP_055472.1 O43156 TTI1_HUMAN TELO2 interacting protein 1 211 binding breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 47 TGAGATTCCAGGTAAAAAAGA 0.433000 6 76 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 58097609 58097609 + Splice_Site SNP G G C TCGA-VN-A943-01A-11D-A41K-08 TCGA-VN-A943-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1befde85-bf60-46a5-88b0-f6319b14a2fe ac89aa0d-1731-4467-9eb3-57726a089b7f g.chr3:58097609G>C ENST00000357272.4 + 17 2740 c.e17+1 FLNB_ENST00000295956.4_Splice_Site|FLNB_ENST00000419752.2_Splice_Site|FLNB_ENST00000429972.2_Splice_Site|FLNB_ENST00000490882.1_Splice_Site|FLNB_ENST00000358537.3_Splice_Site|FLNB_ENST00000348383.5_Splice_Site|FLNB_ENST00000493452.1_Splice_Site O75369 FLNB_HUMAN filamin B, beta actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) AGCAAAGCAGGTAAGATGGCA 0.582000 5 11 0 0 1 0 0 ELMO3 79767 broad.mit.edu 37 16 67233242 67233242 + Missense_Mutation SNP C C T TCGA-VN-A943-01A-11D-A41K-08 TCGA-VN-A943-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1befde85-bf60-46a5-88b0-f6319b14a2fe ac89aa0d-1731-4467-9eb3-57726a089b7f g.chr16:67233242C>T ENST00000393997.2 + 1 229 c.172C>T c.(172-174)Cgg>Tgg p.R58W ELMO3_ENST00000360833.1_Missense_Mutation_p.R58W NM_024712.3 NP_078988.2 Q96BJ8 ELMO3_HUMAN engulfment and cell motility 3 5 apoptosis|phagocytosis cytoplasm|cytoskeleton SH3 domain binding cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 18 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) GGCGCCTCCGCGGAACGTGGT 0.682000 3 24 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70633727 70633727 + Silent SNP G G A TCGA-VN-A943-01A-11D-A41K-08 TCGA-VN-A943-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1befde85-bf60-46a5-88b0-f6319b14a2fe ac89aa0d-1731-4467-9eb3-57726a089b7f g.chr14:70633727G>A ENST00000381269.2 - 2 2166 c.1413C>T c.(1411-1413)gaC>gaT p.D471D SLC8A3_ENST00000528359.1_Silent_p.D471D|SLC8A3_ENST00000534137.1_Silent_p.D471D|SLC8A3_ENST00000356921.2_Silent_p.D471D|SLC8A3_ENST00000357887.3_Silent_p.D471D NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 471 Calx-beta 1. cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding p.D471D(1) NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) CAAAAATGTCGTCATCAATTA 0.512000 73 94 0 0 1 0 0 MFSD2A 84879 broad.mit.edu 37 1 40432806 40432806 + Missense_Mutation SNP C C T TCGA-VN-A943-01A-11D-A41K-08 TCGA-VN-A943-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1befde85-bf60-46a5-88b0-f6319b14a2fe ac89aa0d-1731-4467-9eb3-57726a089b7f g.chr1:40432806C>T ENST00000372809.5 + 9 1158 c.1015C>T c.(1015-1017)Cgc>Tgc p.R339C MFSD2A_ENST00000420632.2_Missense_Mutation_p.R170C|MFSD2A_ENST00000372811.5_Missense_Mutation_p.R326C|MFSD2A_ENST00000480630.1_Intron NM_001136493.1 NP_001129965.1 Q8NA29 MFS2A_HUMAN major facilitator superfamily domain containing 2A 339 transmembrane transport endoplasmic reticulum membrane|integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 24 CTTGGGCTTCCGCAATGAATT 0.552000 4 49 0 0 1 0 0 AC018890.6 0 broad.mit.edu 37 2 175585079 175585079 + RNA DEL A A - TCGA-VN-A943-01A-11D-A41K-08 TCGA-VN-A943-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1befde85-bf60-46a5-88b0-f6319b14a2fe ac89aa0d-1731-4467-9eb3-57726a089b7f g.chr2:175585079delA ENST00000442996.1 + 0 217 TTTCATTCTCAAAAAAAAAAA 0.368 OREG0015078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- RP5-991G20.1 0 broad.mit.edu 37 16 72763869 72763870 + RNA DEL AA AA - TCGA-VN-A943-01A-11D-A41K-08 TCGA-VN-A943-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1befde85-bf60-46a5-88b0-f6319b14a2fe ac89aa0d-1731-4467-9eb3-57726a089b7f g.chr16:72763869_72763870delAA ENST00000563328.2 + 0 164 GGTCCAAAACAAAAAAAAAAAA 0.431 4 6 --- --- --- --- MICAL3 57553 broad.mit.edu 37 22 18314825 18314827 + In_Frame_Del DEL CTC CTC - TCGA-VN-A943-01A-11D-A41K-08 TCGA-VN-A943-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1befde85-bf60-46a5-88b0-f6319b14a2fe ac89aa0d-1731-4467-9eb3-57726a089b7f g.chr22:18314825_18314827delCTC ENST00000441493.2 - 21 3200_3202 c.2848_2850delGAG c.(2848-2850)del p.E950del NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 950 Glu-rich. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) GCAGGCGAGGctcctcctcctcc 0.557 3 6 --- --- --- ---