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 CELA3A 10136 broad.mit.edu 37 1 22333423 22333423 + Missense_Mutation SNP G A A TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr1:22333423G>A uc001bfl.2 + 5 434 c.415G>A c.(415-417)GTC>ATC p.V139I NM_005747 NP_005738 P09093 CEL3A_HUMAN elastase 3A, pancreatic preproprotein 139 Peptidase S1. cholesterol metabolic process|digestion|proteolysis serine-type endopeptidase activity haematopoietic_and_lymphoid_tissue(1) 1 GGGAGATGCCGTCCAGCTCGC 0.627 EPB41 2035 broad.mit.edu 37 1 29344851 29344851 + Missense_Mutation SNP G A A TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr1:29344851G>A uc001brm.1 + 6 1028 c.1021G>A c.(1021-1023)GAC>AAC p.D341N EPB41_uc001brg.1_Missense_Mutation_p.D132N|EPB41_uc001brh.1_Missense_Mutation_p.D132N|EPB41_uc001bri.1_Missense_Mutation_p.D306N|EPB41_uc001brj.1_Missense_Mutation_p.D132N|EPB41_uc009vtk.1_Missense_Mutation_p.D306N|EPB41_uc001brk.2_Missense_Mutation_p.D341N|EPB41_uc001brl.1_Missense_Mutation_p.D341N|EPB41_uc009vtl.1_Missense_Mutation_p.D132N|EPB41_uc009vtm.1_5'UTR NM_203342 NP_976217 P11171 41_HUMAN erythrocyte membrane protein band 4.1 341 FERM. blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton 1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton ovary(1) 1 Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757) GGGAGACTACGACCCAGAACT 0.468 EIF2C3 192669 broad.mit.edu 37 1 36505436 36505436 + Missense_Mutation SNP G A A TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr1:36505436G>A uc001bzp.2 + 15 2144 c.1888G>A c.(1888-1890)GTA>ATA p.V630I EIF2C3_uc001bzq.2_Missense_Mutation_p.V396I NM_024852 NP_079128 Q9H9G7 AGO3_HUMAN eukaryotic translation initiation factor 2C, 3 630 Piwi. mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|cytosol protein binding|RNA binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CTGTGCCACAGTAAGAGTTCA 0.383 EPHA10 284656 broad.mit.edu 37 1 38197175 38197175 + Missense_Mutation SNP C T T TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr1:38197175C>T uc009vvi.2 - 7 1657 c.1571G>A c.(1570-1572)CGC>CAC p.R524H EPHA10_uc009vvh.1_RNA|EPHA10_uc001cbu.2_RNA|EPHA10_uc001cbv.1_RNA NM_001099439 NP_001092909 Q5JZY3 EPHAA_HUMAN EPH receptor A10 isofom 3 524 Fibronectin type-III 2.|Extracellular (Potential). extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity breast(4)|stomach(3)|lung(1) 8 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) AAAGACGTAGCGGGTAGCCGG 0.592 GBP1 2633 broad.mit.edu 37 1 89525904 89525904 + Silent SNP G A A TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr1:89525904G>A uc001dmx.2 - 3 514 c.294C>T c.(292-294)ACC>ACT p.T98T NM_002053 NP_002044 P32455 GBP1_HUMAN guanylate binding protein 1, 98 GTP. interferon-gamma-mediated signaling pathway plasma membrane GTP binding|GTPase activity ovary(1)|skin(1) 2 Lung NSC(277;0.123) all cancers(265;0.0156)|Epithelial(280;0.0291) CCAGACCCTCGGTGTCCAGCA 0.507 TXNIP 10628 broad.mit.edu 37 1 145440909 145440909 + Silent SNP C T T TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr1:145440909C>T uc001enn.3 + 7 1337 c.996C>T c.(994-996)CCC>CCT p.P332P NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Silent_p.P277P NM_006472 NP_006463 Q9H3M7 TXNIP_HUMAN thioredoxin interacting protein 332 cell cycle|keratinocyte differentiation|transcription, DNA-dependent ubiquitin protein ligase binding ovary(2) 2 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TAGCTCCTCCCTGCTATATGG 0.443 FLG 2312 broad.mit.edu 37 1 152278855 152278855 + Missense_Mutation SNP C T T TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr1:152278855C>T uc001ezu.1 - 3 8543 c.8507G>A c.(8506-8508)AGT>AAT p.S2836N NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2836 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCTGCTTGCACTTCTGGATCC 0.557 Ichthyosis PRRG4 79056 broad.mit.edu 37 11 32875008 32875008 + Missense_Mutation SNP C T T TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr11:32875008C>T uc001mtx.2 + 6 869 c.616C>T c.(616-618)CCA>TCA p.P206S NM_024081 NP_076986 Q9BZD6 TMG4_HUMAN proline rich Gla (G-carboxyglutamic acid) 4 206 Cytoplasmic (Potential).|Poly-Pro. extracellular region|Golgi apparatus|integral to membrane calcium ion binding 0 Breast(20;0.206) ACCACCACCACCATATCCTGG 0.438 TRIM49 57093 broad.mit.edu 37 11 89531694 89531694 + Silent SNP G A A TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr11:89531694G>A uc001pdb.2 - 8 1292 c.963C>T c.(961-963)TTC>TTT p.F321F NM_020358 NP_065091 P0CI25 TRI49_HUMAN ring finger protein 18 321 B30.2/SPRY. intracellular zinc ion binding 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) GTGTTGCAGTGAAATAGGGTA 0.418 ENO2 2026 broad.mit.edu 37 12 7026819 7026819 + Missense_Mutation SNP C G G TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr12:7026819C>G uc001qru.1 + 6 607 c.385C>G c.(385-387)CCC>GCC p.P129A ENO2_uc009zfi.1_Missense_Mutation_p.P129A|ENO2_uc010sfq.1_Missense_Mutation_p.P86A|ENO2_uc001qrv.1_Missense_Mutation_p.P129A NM_001975 NP_001966 P09104 ENOG_HUMAN enolase 2 129 gluconeogenesis|glycolysis phosphopyruvate hydratase complex|plasma membrane magnesium ion binding|phosphopyruvate hydratase activity 0 GCGGGAACTGCCCCTGTATCG 0.617 MLL2 8085 broad.mit.edu 37 12 49448322 49448322 + Missense_Mutation SNP C T T TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr12:49448322C>T uc001rta.3 - 3 389 c.389G>A c.(388-390)GGA>GAA p.G130E NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 130 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 TCCAGGTTCTCCTAGGTGGGC 0.557 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) LRRIQ1 84125 broad.mit.edu 37 12 85492269 85492269 + Silent SNP C T T TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr12:85492269C>T uc001tac.2 + 12 3135 c.3024C>T c.(3022-3024)GGC>GGT p.G1008G LRRIQ1_uc001tab.1_Silent_p.G1008G NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1008 LRR 6. ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) ATGTAGAGGGCGTTGAAAATT 0.343 LRRIQ1 84125 broad.mit.edu 37 12 85546073 85546073 + Frame_Shift_Del DEL G - - TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr12:85546073delG uc001tac.2 + 20 4456 c.4345delG c.(4345-4347)GAAfs p.E1449fs NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1449 ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) CTTAGAAGAAGAATGGCTAGC 0.353 GPR81 27198 broad.mit.edu 37 12 123214178 123214178 + Missense_Mutation SNP C T T TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr12:123214178C>T uc001ucz.2 - 1 952 c.709G>A c.(709-711)GTG>ATG p.V237M GPR81_uc001ucw.1_RNA NM_032554 NP_115943 Q9BXC0 HCAR1_HUMAN G protein-coupled receptor 81 237 Helical; Name=6; (Potential). response to estradiol stimulus integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.14e-05)|Epithelial(86;3.25e-05)|BRCA - Breast invasive adenocarcinoma(302;0.197) CTAGCAGACACGCTGGGCAGG 0.582 ZNF10 7556 broad.mit.edu 37 12 133732279 133732279 + Silent SNP A G G TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr12:133732279A>G uc009zzb.2 + 5 894 c.447A>G c.(445-447)CAA>CAG p.Q149Q ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.2_Silent_p.Q149Q NM_015394 NP_056209 P21506 ZNF10_HUMAN zinc finger protein 10 149 Missing (in Ref. 1). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|skin(1) 3 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) ATTTGAGGCAAGTGGCATTCA 0.428 ZNF10 7556 broad.mit.edu 37 12 133732444 133732444 + Missense_Mutation SNP T A A TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr12:133732444T>A uc009zzb.2 + 5 1059 c.612T>A c.(610-612)CAT>CAA p.H204Q ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.2_Missense_Mutation_p.H204Q NM_015394 NP_056209 P21506 ZNF10_HUMAN zinc finger protein 10 204 Missing (in Ref. 1). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|skin(1) 3 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) TTAATGGTCATCAGGACAGTT 0.363 ZNF10 7556 broad.mit.edu 37 12 133732460 133732460 + Missense_Mutation SNP A G G TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr12:133732460A>G uc009zzb.2 + 5 1075 c.628A>G c.(628-630)AGT>GGT p.S210G ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.2_Missense_Mutation_p.S210G NM_015394 NP_056209 P21506 ZNF10_HUMAN zinc finger protein 10 210 C2H2-type 1; atypical. Missing (in Ref. 1). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|skin(1) 3 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) CAGTTGTGCAAGTAACAGTAA 0.358 POTEG 404785 broad.mit.edu 37 14 19553826 19553826 + Missense_Mutation SNP G A A TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr14:19553826G>A uc001vuz.1 + 1 462 c.410G>A c.(409-411)CGA>CAA p.R137Q POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 137 ovary(1) 1 CACGTCCGTCGAGAAGATCTG 0.577 POTEG 404785 broad.mit.edu 37 14 19566060 19566060 + Silent SNP C G G TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr14:19566060C>G uc001vuz.1 + 6 1156 c.1104C>G c.(1102-1104)GTC>GTG p.V368V POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA|uc001vvb.2_Intron NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 368 ovary(1) 1 TGCTAAAAGTCTCTTCTGAAA 0.214 ADCY4 196883 broad.mit.edu 37 14 24801072 24801072 + Silent SNP G A A TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr14:24801072G>A uc001wov.2 - 4 597 c.591C>T c.(589-591)CGC>CGT p.R197R ADCY4_uc001wow.2_Silent_p.R197R|ADCY4_uc010toh.1_5'UTR|ADCY4_uc001wox.2_Silent_p.R197R|ADCY4_uc001woy.2_Silent_p.R197R NM_139247 NP_640340 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 197 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 cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding ovary(1)|lung(1)|pancreas(1) 3 GBM - Glioblastoma multiforme(265;0.0192) CCCGCAGGGCGCGCTCCATCA 0.667 SYT16 83851 broad.mit.edu 37 14 62547865 62547865 + Missense_Mutation SNP G A A TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr14:62547865G>A uc001xfu.1 + 4 1504 c.1307G>A c.(1306-1308)CGC>CAC p.R436H SYT16_uc010tsd.1_3'UTR|SYT16_uc010tse.1_5'UTR NM_031914 NP_114120 Q17RD7 SYT16_HUMAN synaptotagmin XIV-like 436 C2 1. central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) GTCCGCTTCCGCCTGTACGCT 0.562 C15orf48 84419 broad.mit.edu 37 15 45723253 45723253 + Missense_Mutation SNP G A A rs143173357 TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr15:45723253G>A uc001zvg.2 + 3 209 c.91G>A c.(91-93)GCT>ACT p.A31T C15orf48_uc001zvh.2_Missense_Mutation_p.A31T|MIR147B_hsa-mir-147b|MI0005544_5'Flank NM_197955 NP_922946 Q9C002 NMES1_HUMAN normal mucosa of esophagus specific 1 31 nucleus p.A31P(1) ovary(1) 1 Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06) CTCATCTTTCGCTGTGTATTC 0.413 CCDC33 80125 broad.mit.edu 37 15 74564064 74564064 + Silent SNP C T T TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr15:74564064C>T uc002axo.2 + 6 961 c.567C>T c.(565-567)AAC>AAT p.N189N CCDC33_uc002axp.2_Silent_p.N11N NM_025055 NP_079331 Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 isoform 1 392 protein binding ovary(3)|skin(2) 5 GGGGAGTCAACGAGCCCCTGG 0.592 CCDC33 80125 broad.mit.edu 37 15 74573074 74573074 + Missense_Mutation SNP C T T TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr15:74573074C>T uc002axo.2 + 9 1349 c.955C>T c.(955-957)CGT>TGT p.R319C CCDC33_uc002axp.2_Missense_Mutation_p.R141C NM_025055 NP_079331 Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 isoform 1 522 protein binding ovary(3)|skin(2) 5 GCTAAAGAGCCGTTTGTACCA 0.612 ITGAX 3687 broad.mit.edu 37 16 31374348 31374348 + Silent SNP C T T TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr16:31374348C>T uc002ebu.1 + 13 1519 c.1452C>T c.(1450-1452)TAC>TAT p.Y484Y ITGAX_uc002ebt.2_Silent_p.Y484Y|ITGAX_uc010vfk.1_Silent_p.Y134Y NM_000887 NP_000878 P20702 ITAX_HUMAN integrin alpha X precursor 484 FG-GAP 5.|Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 CCCATTACTACGAGCAGACCC 0.677 MYLK3 91807 broad.mit.edu 37 16 46755087 46755087 + Missense_Mutation SNP C T T TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr16:46755087C>T uc002eei.3 - 9 2049 c.1933G>A c.(1933-1935)GTC>ATC p.V645I MYLK3_uc010vge.1_Missense_Mutation_p.V304I NM_182493 NP_872299 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 645 Protein kinase. cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1) 7 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) GTCTGATTGACGCACAATATG 0.448 SLC2A4 6517 broad.mit.edu 37 17 7187697 7187697 + Silent SNP G A A TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr17:7187697G>A uc002gfp.2 + 6 926 c.726G>A c.(724-726)AAG>AAA p.K242K SLC2A4_uc002gfo.2_Silent_p.K242K|SLC2A4_uc010cmd.2_RNA NM_001042 NP_001033 P14672 GTR4_HUMAN glucose transporter 4 242 Cytoplasmic (Potential). carbohydrate metabolic process|glucose homeostasis|glucose import external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm D-glucose transmembrane transporter activity|protein binding 0 CTGCCAGAAAGAGTAAGCTCT 0.632 MYOCD 93649 broad.mit.edu 37 17 12666835 12666835 + Silent SNP G A A rs149918258 TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr17:12666835G>A uc002gnn.2 + 13 2990 c.2691G>A c.(2689-2691)CCG>CCA p.P897P MYOCD_uc002gno.2_Silent_p.P945P|MYOCD_uc002gnq.2_Silent_p.P621P NM_153604 NP_705832 Q8IZQ8 MYCD_HUMAN myocardin isoform 2 897 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding central_nervous_system(2)|skin(2)|ovary(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) ACCTCACTCCGCCAAATTCCA 0.512 KCNJ12 3768 broad.mit.edu 37 17 21319341 21319341 + Silent SNP C T T TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr17:21319341C>T uc002gyv.1 + 3 1392 c.687C>T c.(685-687)CGC>CGT p.R229R NM_021012 NP_066292 Q14500 IRK12_HUMAN potassium inwardly-rectifying channel, subfamily 229 Cytoplasmic (By similarity). blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission integral to membrane inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity ovary(3)|skin(1) 4 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) Dofetilide(DB00204) CCCATGTGCGCGCGCAGCTCA 0.642 Prostate(3;0.18) RHBDF2 79651 broad.mit.edu 37 17 74473065 74473065 + Missense_Mutation SNP C T T TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr17:74473065C>T uc002jrq.1 - 9 1342 c.1049G>A c.(1048-1050)GGC>GAC p.G350D RHBDF2_uc002jrp.1_Missense_Mutation_p.G321D|RHBDF2_uc002jrr.1_Missense_Mutation_p.G202D|RHBDF2_uc010wtf.1_Missense_Mutation_p.G321D|RHBDF2_uc002jrs.1_Missense_Mutation_p.G345D NM_024599 NP_078875 Q6PJF5 RHDF2_HUMAN rhomboid, veinlet-like 6 isoform 1 350 Cytoplasmic (Potential). negative regulation of protein secretion|protein transport|proteolysis endoplasmic reticulum membrane|integral to membrane growth factor binding|serine-type endopeptidase activity 0 GATGCGCTTGCCGCGCCGGGG 0.647 POLI 11201 broad.mit.edu 37 18 51809324 51809324 + Missense_Mutation SNP G A A rs146107490 TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr18:51809324G>A uc002lfj.3 + 6 982 c.914G>A c.(913-915)CGT>CAT p.R305H POLI_uc010xds.1_Missense_Mutation_p.R226H|POLI_uc002lfk.3_Missense_Mutation_p.R202H|POLI_uc002lfl.1_Missense_Mutation_p.R237H|POLI_uc010dpg.2_5'UTR NM_007195 NP_009126 Q9UNA4 POLI_HUMAN DNA polymerase iota 305 DNA repair|DNA replication nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding ovary(2)|kidney(1) 3 Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197) GTTGCTCAGCGTATCCAAAAG 0.393 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage ZNF77 58492 broad.mit.edu 37 19 2933838 2933838 + Silent SNP C T T TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr19:2933838C>T uc002lws.3 - 4 1418 c.1287G>A c.(1285-1287)ACG>ACA p.T429T NM_021217 NP_067040 Q15935 ZNF77_HUMAN zinc finger protein 77 429 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|zinc ion binding ovary(1) 1 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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18) CTCCAGTATGCGTCCTCACGT 0.512 TJP3 27134 broad.mit.edu 37 19 3735631 3735631 + Missense_Mutation SNP C T T TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr19:3735631C>T uc010xhv.1 + 8 1153 c.1153C>T c.(1153-1155)CGG>TGG p.R385W TJP3_uc010xhs.1_Missense_Mutation_p.R352W|TJP3_uc010xht.1_Missense_Mutation_p.R316W|TJP3_uc010xhu.1_Missense_Mutation_p.R361W|TJP3_uc010xhw.1_Missense_Mutation_p.R371W NM_014428 NP_055243 O95049 ZO3_HUMAN tight junction protein 3 366 tight junction protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) AGATGAGCAACGGTCAGGTGG 0.602 SH2D3A 10045 broad.mit.edu 37 19 6760704 6760704 + Missense_Mutation SNP G A A TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr19:6760704G>A uc002mft.2 - 3 558 c.364C>T c.(364-366)CGC>TGC p.R122C SH2D3A_uc010xjg.1_Intron NM_005490 NP_005481 Q9BRG2 SH23A_HUMAN SH2 domain containing 3A 122 JNK cascade|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(2) 2 CTAAAGCTGCGTCGCAGAGGC 0.612 FBN3 84467 broad.mit.edu 37 19 8154483 8154483 + Missense_Mutation SNP G A A TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr19:8154483G>A uc002mjf.2 - 50 6343 c.6322C>T c.(6322-6324)CGC>TGC p.R2108C FBN3_uc002mje.2_5'UTR NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 2108 EGF-like 33; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 CACTCACAGCGGAAGGATCCA 0.607 DDX49 54555 broad.mit.edu 37 19 19030579 19030579 + Missense_Mutation SNP C T T TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr19:19030579C>T uc002nkq.1 + 1 86 c.29C>T c.(28-30)TCA>TTA p.S10L COPE_uc002nkk.2_5'Flank|COPE_uc002nkl.2_5'Flank|COPE_uc002nkm.2_5'Flank|COPE_uc002nkn.2_5'Flank|HOMER3_uc002nko.1_Intron|HOMER3_uc002nkp.1_Intron|DDX49_uc002nkr.1_RNA|DDX49_uc002nks.1_5'UTR|DDX49_uc002nkt.1_5'Flank NM_019070 NP_061943 Q9Y6V7 DDX49_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 49 10 Q motif. ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 Epithelial(12;0.0289) CTCGGGCTGTCATCGTGGCTC 0.677 TSHZ3 57616 broad.mit.edu 37 19 31767726 31767726 + Silent SNP G A A TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr19:31767726G>A uc002nsy.3 - 2 3038 c.2973C>T c.(2971-2973)TAC>TAT p.Y991Y NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 991 C2H2-type 4. negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) GGTGACTGATGTACGTGGAAG 0.488 VASP 7408 broad.mit.edu 37 19 46027874 46027874 + Missense_Mutation SNP A G G TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr19:46027874A>G uc002pcg.2 + 11 1345 c.1003A>G c.(1003-1005)ACG>GCG p.T335A VASP_uc010eki.2_Missense_Mutation_p.T169A|VASP_uc002pci.2_Missense_Mutation_p.T321A NM_003370 NP_003361 P50552 VASP_HUMAN vasodilator-stimulated phosphoprotein 335 EVH2. axon guidance|cell junction assembly|T cell receptor signaling pathway actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane actin binding|profilin binding|SH3 domain binding 0 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154) CCAACCCTGCACGCCCAGCTC 0.498 NT5C1B 93034 broad.mit.edu 37 2 18765378 18765378 + Silent SNP C T T TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr2:18765378C>T uc002rcz.2 - 6 1151 c.1047G>A c.(1045-1047)CCG>CCA p.P349P NT5C1B_uc002rcy.2_Silent_p.P349P|NT5C1B_uc010exr.2_Silent_p.P291P|NT5C1B_uc010yju.1_Silent_p.P289P|NT5C1B_uc002rda.2_Silent_p.P289P|NT5C1B_uc010yjv.1_Silent_p.P366P|NT5C1B_uc010yjw.1_Silent_p.P332P|NT5C1B_uc010exs.2_Silent_p.P351P|NT5C1B_uc002rdb.1_Silent_p.P141P NM_001002006 NP_001002006 Q96P26 5NT1B_HUMAN 5' nucleotidase, cytosolic IB isoform 1 349 purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding skin(2)|ovary(1) 3 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) ACGCCGGGCCCGGGGTCAGGA 0.587 MYADML 151325 broad.mit.edu 37 2 33952485 33952485 + Missense_Mutation SNP A T T TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr2:33952485A>T uc002rpb.2 - 1 800 c.358T>A c.(358-360)TAC>AAC p.Y120N NR_003143 RecName: Full=Myeloid-associated differentiation marker-like protein.; 0 CGGTTGTGGTACACGTAGGGG 0.627 TBC1D8 11138 broad.mit.edu 37 2 101650173 101650173 + Missense_Mutation SNP C G G TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr2:101650173C>G uc010fiv.2 - 10 1737 c.1606G>C c.(1606-1608)GTG>CTG p.V536L TBC1D8_uc010yvw.1_Missense_Mutation_p.V551L|TBC1D8_uc002tau.3_Missense_Mutation_p.V293L NM_001102426 NP_001095896 O95759 TBCD8_HUMAN TBC1 domain family, member 8 536 Rab-GAP TBC. blood circulation|positive regulation of cell proliferation intracellular|membrane calcium ion binding|Rab GTPase activator activity ovary(3) 3 GACTCCTCCACCAGATTCCCG 0.542 SAP130 79595 broad.mit.edu 37 2 128707447 128707447 + Silent SNP G C C TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr2:128707447G>C uc002tpp.2 - 17 2898 c.2766C>G c.(2764-2766)GTC>GTG p.V922V SAP130_uc002tpn.2_Silent_p.V682V|SAP130_uc002tpo.2_Silent_p.V702V|SAP130_uc010fmd.2_Silent_p.V957V NM_024545 NP_078821 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa isoform b 922 Interactions with SIN3A and HDAC1. histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity ovary(2)|skin(2) 4 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) ACTAACCTTTGACCCGGACGT 0.433 KBTBD10 10324 broad.mit.edu 37 2 170382111 170382111 + Missense_Mutation SNP A G G TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr2:170382111A>G uc002ueu.1 + 6 1803 c.1726A>G c.(1726-1728)AAA>GAA p.K576E KBTBD10_uc010zdh.1_Missense_Mutation_p.K514E NM_006063 NP_006054 O60662 KBTBA_HUMAN kelch repeat and BTB (POZ) domain containing 10 576 Kelch 5. striated muscle contraction centrosome|nucleolus|plasma membrane|pseudopodium|ruffle 0 AGATGATAAAAAAGAATGGGC 0.373 TTN 7273 broad.mit.edu 37 2 179419816 179419816 + Missense_Mutation SNP G A A TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr2:179419816G>A uc010zfg.1 - 280 80890 c.80666C>T c.(80665-80667)TCT>TTT p.S26889F uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S20584F|TTN_uc010zfi.1_Missense_Mutation_p.S20517F|TTN_uc010zfj.1_Missense_Mutation_p.S20392F NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 27816 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GAGCTTCACAGATGTACCTGC 0.373 PLCL1 5334 broad.mit.edu 37 2 198966043 198966043 + Missense_Mutation SNP C T T TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr2:198966043C>T uc010fsp.2 + 4 3245 c.2954C>T c.(2953-2955)GCG>GTG p.A985V PLCL1_uc002uuv.3_Missense_Mutation_p.A906V NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 985 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) ATAGAAATGGCGGACACAGTC 0.318 COL4A4 1286 broad.mit.edu 37 2 227872085 227872085 + Missense_Mutation SNP G A A TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr2:227872085G>A uc010zlt.1 - 47 5683 c.5029C>T c.(5029-5031)CGC>TGC p.R1677C NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 1677 Collagen IV NC1. 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) ATTTTCTGGCGTTGGGCCTGG 0.493 CSE1L 1434 broad.mit.edu 37 20 47688965 47688965 + Missense_Mutation SNP C T T TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr20:47688965C>T uc002xty.2 + 9 1045 c.911C>T c.(910-912)ACG>ATG p.T304M CSE1L_uc010zyg.1_Missense_Mutation_p.T87M|CSE1L_uc010ghx.2_Intron|CSE1L_uc010ghy.2_Translation_Start_Site|CSE1L_uc010zyh.1_5'Flank NM_001316 NP_001307 P55060 XPO2_HUMAN CSE1 chromosome segregation 1-like protein 304 apoptosis|cell proliferation|intracellular protein transport cytoplasm|nucleus importin-alpha export receptor activity large_intestine(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198) CTAGTTACAACGGGTCAAGAG 0.383 UCKL1 54963 broad.mit.edu 37 20 62571796 62571796 + Missense_Mutation SNP C T T TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr20:62571796C>T uc010gkn.2 - 13 1388 c.1345G>A c.(1345-1347)GTG>ATG p.V449M UCKL1_uc002yhj.2_Missense_Mutation_p.V92M|UCKL1_uc011abm.1_Missense_Mutation_p.V434M|UCKL1_uc011abn.1_RNA NM_017859 NP_060329 Q9NWZ5 UCKL1_HUMAN uridine-cytidine kinase 1-like 1 449 interspecies interaction between organisms endoplasmic reticulum|nucleus ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity 0 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) ATGAGGATCACGTGGTCATCG 0.677 KRTAP10-4 386672 broad.mit.edu 37 21 45993777 45993777 + Missense_Mutation SNP G A A TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr21:45993777G>A uc002zfk.1 + 1 172 c.142G>A c.(142-144)GCC>ACC p.A48T C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198687 NP_941960 P60372 KR104_HUMAN keratin associated protein 10-4 48 3.|36 X 5 AA repeats of C-C-X(3). keratin filament 0 CAGCTGCTGCGCCCCGGCCCC 0.701 BPIL2 254240 broad.mit.edu 37 22 32829708 32829708 + Missense_Mutation SNP G A A TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr22:32829708G>A uc003amn.2 - 9 976 c.976C>T c.(976-978)CGG>TGG p.R326W BPIL2_uc010gwo.2_Missense_Mutation_p.R140W|BPIL2_uc011amb.1_Missense_Mutation_p.R50W NM_174932 NP_777592 Q8NFQ6 BPIL2_HUMAN bactericidal/permeability-increasing 326 extracellular region lipopolysaccharide binding|phospholipid binding ovary(1)|skin(1) 2 GCACTTACCCGGGAGAGCACG 0.418 CACNA1I 8911 broad.mit.edu 37 22 40080363 40080363 + Nonsense_Mutation SNP G T T TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr22:40080363G>T uc003ayc.2 + 36 5887 c.5887G>T c.(5887-5889)GAG>TAG p.E1963* CACNA1I_uc003ayd.2_Nonsense_Mutation_p.E1928*|CACNA1I_uc003aye.2_Nonsense_Mutation_p.E1878*|CACNA1I_uc003ayf.2_Nonsense_Mutation_p.E1843* NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, 1963 Cytoplasmic (Potential). axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(1)|central_nervous_system(1) 2 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) CATGCCAGCCGAGTTCTTCCA 0.637 CSDC2 27254 broad.mit.edu 37 22 41969718 41969718 + Missense_Mutation SNP C T T TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr22:41969718C>T uc003bak.1 + 3 533 c.236C>T c.(235-237)TCA>TTA p.S79L NM_014460 NP_055275 Q9Y534 CSDC2_HUMAN RNA-binding protein pippin 79 CSD. histone mRNA 3'-end processing|regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|RNA binding 0 TTCTCACGCTCACAGGGCCAT 0.612 ATP2B2 491 broad.mit.edu 37 3 10387792 10387792 + Missense_Mutation SNP G A A TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr3:10387792G>A uc003bvt.2 - 17 2873 c.2434C>T c.(2434-2436)CGG>TGG p.R812W ATP2B2_uc003bvv.2_Missense_Mutation_p.R767W|ATP2B2_uc003bvw.2_Missense_Mutation_p.R767W|ATP2B2_uc010hdo.2_Missense_Mutation_p.R517W NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN plasma membrane calcium ATPase 2 isoform 1 812 Cytoplasmic (Potential). ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding ovary(3)|skin(2)|central_nervous_system(1) 6 ACCACCTGCCGCTGCTCAGTG 0.682 SLC6A20 54716 broad.mit.edu 37 3 45814090 45814090 + Silent SNP C T T TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr3:45814090C>T uc011bai.1 - 5 724 c.600G>A c.(598-600)GCG>GCA p.A200A SLC6A20_uc003cow.2_5'Flank|SLC6A20_uc011baj.1_Intron NM_020208 NP_064593 Q9NP91 S6A20_HUMAN solute carrier family 6, member 20 isoform 1 200 Helical; Name=5; (Potential). cellular nitrogen compound metabolic process|glycine transport|proline transport apical plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267) AGGGCAGTGACGCCGTGAAAT 0.597 GHSR 2693 broad.mit.edu 37 3 172165997 172165997 + Silent SNP C T T TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr3:172165997C>T uc003fib.1 - 1 207 c.207G>A c.(205-207)TCG>TCA p.S69S GHSR_uc011bpv.1_Silent_p.S69S NM_198407 NP_940799 Q92847 GHSR_HUMAN growth hormone secretagogue receptor isoform 1a 69 Cytoplasmic (Potential). actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity lung(3)|ovary(1)|central_nervous_system(1) 5 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) CGCGGAAGCGCGACACCACCA 0.657 SULT1B1 27284 broad.mit.edu 37 4 70599914 70599914 + Silent SNP A G G TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr4:70599914A>G uc003hen.2 - 5 742 c.444T>C c.(442-444)AAT>AAC p.N148N NM_014465 NP_055280 O43704 ST1B1_HUMAN sulfotransferase family, cytosolic, 1B, member 148 3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process cytosol 0 AAGGCTGTAAATTATTCATTA 0.353 SEPT11 55752 broad.mit.edu 37 4 77949846 77949846 + Missense_Mutation SNP G A A TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr4:77949846G>A uc003hkj.2 + 8 1180 c.1018G>A c.(1018-1020)GAA>AAA p.E340K SEPT11_uc010ijh.1_Missense_Mutation_p.E332K|SEPT11_uc011cca.1_Missense_Mutation_p.E350K NM_018243 NP_060713 Q9NVA2 SEP11_HUMAN septin 11 340 Potential. cell cycle|cell division|protein heterooligomerization axon|cell junction|dendritic spine|septin complex|stress fiber|synapse GTP binding|protein binding 0 GAAAGAAGAAGAAATGAGACA 0.403 FAT1 2195 broad.mit.edu 37 4 187541182 187541183 + Frame_Shift_Ins INS - A A TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr4:187541182_187541183insA uc003izf.2 - 10 6745_6746 c.6557_6558insT c.(6556-6558)TTCfs p.F2186fs NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 2186 Extracellular (Potential).|Cadherin 20. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 CTGCACTGTAGAAAGGTTTTTC 0.510 HNSCC(5;0.00058) FSTL4 23105 broad.mit.edu 37 5 132652162 132652162 + Missense_Mutation SNP C T T TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr5:132652162C>T uc003kyn.1 - 5 810 c.592G>A c.(592-594)GAA>AAA p.E198K NM_015082 NP_055897 Q6MZW2 FSTL4_HUMAN follistatin-like 4 precursor 198 Potential.|EF-hand. extracellular region calcium ion binding central_nervous_system(1)|skin(1) 2 all_cancers(142;0.244) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TGAGCCAGTTCGGAGCTGCTG 0.557 NPM1 4869 broad.mit.edu 37 5 170819769 170819769 + Missense_Mutation SNP A C C TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr5:170819769A>C uc011dex.1 + 6 543 c.408A>C c.(406-408)TTA>TTC p.L136F NPM1_uc003mbh.2_Missense_Mutation_p.L136F|NPM1_uc003mbi.2_Missense_Mutation_p.L136F|NPM1_uc003mbj.2_Missense_Mutation_p.L136F NM_002520 NP_002511 P06748 NPM_HUMAN nucleophosmin 1 isoform 1 136 Required for interaction with SENP3. anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding NPM1/ALK(632) haematopoietic_and_lymphoid_tissue(3109)|skin(1) 3110 Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TGAAACTCTTAAGTATATCTG 0.388 T|F ALK|RARA|MLF1 NHL|APL|AML NUP153 9972 broad.mit.edu 37 6 17629357 17629357 + Missense_Mutation SNP C T T TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr6:17629357C>T uc003ncd.1 - 18 3273 c.3073G>A c.(3073-3075)GGT>AGT p.G1025S NUP153_uc011dje.1_Missense_Mutation_p.G1056S|NUP153_uc010jpl.1_Missense_Mutation_p.G983S NM_005124 NP_005115 P49790 NU153_HUMAN nucleoporin 153kDa 1025 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding lung(4)|ovary(2)|breast(2)|skin(1) 9 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) ACACCTGTACCAAAGCTAAAA 0.443 SLC26A8 116369 broad.mit.edu 37 6 35923059 35923059 + Missense_Mutation SNP G A A TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr6:35923059G>A uc003olm.2 - 17 2213 c.2102C>T c.(2101-2103)GCG>GTG p.A701V SLC26A8_uc010jwa.2_RNA|SLC26A8_uc003olk.2_Missense_Mutation_p.A283V|SLC26A8_uc003oln.2_Missense_Mutation_p.A701V|SLC26A8_uc003oll.2_Missense_Mutation_p.A596V NM_052961 NP_443193 Q96RN1 S26A8_HUMAN solute carrier family 26, member 8 isoform a 701 Interaction with RACGAP1.|STAS.|Cytoplasmic (Potential). cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity ovary(2) 2 CTGGCTTTCCGCCACATCAGG 0.502 FRK 2444 broad.mit.edu 37 6 116263659 116263659 + Missense_Mutation SNP G A A rs142072444 TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr6:116263659G>A uc003pwi.1 - 8 1883 c.1436C>T c.(1435-1437)ACA>ATA p.T479I NM_002031 NP_002022 P42685 FRK_HUMAN fyn-related kinase 479 Protein kinase. negative regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding ovary(3)|lung(3) 6 all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465) all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625) TGTCTCAAATGTAGGTCGTTC 0.398 DFNA5 1687 broad.mit.edu 37 7 24742379 24742379 + Silent SNP C T T TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr7:24742379C>T uc010kus.1 - 9 1345 c.1257G>A c.(1255-1257)TTG>TTA p.L419L DFNA5_uc003swz.2_Silent_p.L255L|DFNA5_uc003sxa.1_Silent_p.L419L|DFNA5_uc010kut.1_Silent_p.L255L NM_001127453 NP_001120925 O60443 DFNA5_HUMAN deafness, autosomal dominant 5 protein isoform 419 sensory perception of sound ovary(1) 1 GGTTGCTTACCAAGTGGCACA 0.507 DPY19L2P1 554236 broad.mit.edu 37 7 35189704 35189704 + Translation_Start_Site SNP C T T TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr7:35189704C>T uc003teq.1 - 7 1091 c.-16G>A c.(-18--14)TCGTG>TCATG DPY19L2P1_uc003tep.1_5'Flank|DPY19L2P1_uc010kwz.1_RNA RecName: Full=Protein dpy-19 homolog 2-like 2; AltName: Full=Dpy-19-like protein 2 pseudogene 2; 0 ACTTACAACACGAGGGTCTTT 0.264 TNS3 64759 broad.mit.edu 37 7 47440469 47440469 + Missense_Mutation SNP C T T TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr7:47440469C>T uc003tnv.2 - 14 1133 c.766G>A c.(766-768)GTC>ATC p.V256I TNS3_uc003tnw.2_Missense_Mutation_p.V256I|TNS3_uc010kyo.1_3'UTR NM_022748 NP_073585 Q68CZ2 TENS3_HUMAN tensin 3 256 C2 tensin-type. focal adhesion protein binding ovary(4) 4 CGGAAAATGACGTCACGGGTG 0.567 TFPI2 7980 broad.mit.edu 37 7 93516148 93516148 + Missense_Mutation SNP C T T rs12669450 TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr7:93516148C>T uc003umy.1 - 5 767 c.692G>A c.(691-693)CGG>CAG p.R231Q GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_3'UTR|TFPI2_uc003una.1_Missense_Mutation_p.R220Q|TFPI2_uc003unb.1_Missense_Mutation_p.R237Q|TFPI2_uc010lfg.1_Missense_Mutation_p.R107Q NM_006528 NP_006519 P48307 TFPI2_HUMAN tissue factor pathway inhibitor 2 precursor 231 blood coagulation proteinaceous extracellular matrix extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity pancreas(1) 1 all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218) STAD - Stomach adenocarcinoma(171;0.000967) TTGCTTCTTCCGAATTTTCCG 0.328 NRF1 4899 broad.mit.edu 37 7 129357140 129357140 + Missense_Mutation SNP G A A TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr7:129357140G>A uc003voz.2 + 9 1264 c.1147G>A c.(1147-1149)GCA>ACA p.A383T NRF1_uc003vpa.2_Missense_Mutation_p.A383T|NRF1_uc011kpa.1_Missense_Mutation_p.A222T|NRF1_uc003vpb.2_Missense_Mutation_p.A383T NM_005011 NP_005002 Q16656 NRF1_HUMAN nuclear respiratory factor 1 383 Required for transcriptional activation. generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 CCAGGCGGTGGCATCGTTGGC 0.567 ZC3HC1 51530 broad.mit.edu 37 7 129662254 129662254 + Missense_Mutation SNP C T T TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr7:129662254C>T uc003vpi.2 - 9 1372 c.1345G>A c.(1345-1347)GAT>AAT p.D449N ZC3HC1_uc003vph.2_Missense_Mutation_p.D293N|ZC3HC1_uc010lma.2_Missense_Mutation_p.D265N NM_016478 NP_057562 Q86WB0 NIPA_HUMAN zinc finger, C3HC type 1 449 cell division|mitosis nucleus protein kinase binding|zinc ion binding 0 Melanoma(18;0.0435) GCGCTGGCATCTGGTTCAGTT 0.552 ABCF2 10061 broad.mit.edu 37 7 150921937 150921937 + Nonsense_Mutation SNP G A A TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr7:150921937G>A uc003wjp.2 - 3 403 c.292C>T c.(292-294)CAA>TAA p.Q98* ABCF2_uc003wjo.1_Nonsense_Mutation_p.Q98* NM_007189 NP_009120 Q9UG63 ABCF2_HUMAN ATP-binding cassette, sub-family F, member 2 98 ABC transporter 1. ATP-binding cassette (ABC) transporter complex|mitochondrial envelope ATP binding|ATPase activity|transporter activity central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGCAGCTCTTGACCATGAAAG 0.507 RAB11FIP1 80223 broad.mit.edu 37 8 37732412 37732412 + Missense_Mutation SNP C T T rs140686896 TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr8:37732412C>T uc003xkm.1 - 3 1287 c.1243G>A c.(1243-1245)GCA>ACA p.A415T RAB11FIP1_uc010lvz.1_Missense_Mutation_p.A263T|RAB11FIP1_uc003xkn.1_Missense_Mutation_p.A415T|RAB11FIP1_uc003xkl.1_5'Flank|RAB11FIP1_uc003xko.1_5'Flank|RAB11FIP1_uc003xkp.1_Missense_Mutation_p.A263T NM_001002814 NP_001002814 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 isoform 3 415 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) TCTGAGTTTGCGGGGGCCATG 0.557 IMPAD1 54928 broad.mit.edu 37 8 57878872 57878872 + Missense_Mutation SNP C T T TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr8:57878872C>T uc003xte.3 - 4 969 c.686G>A c.(685-687)CGC>CAC p.R229H NM_017813 NP_060283 Q9NX62 IMPA3_HUMAN inositol monophosphatase domain containing 1 229 Golgi apparatus|integral to membrane inositol-1(or 4)-monophosphatase activity|metal ion binding ovary(1) 1 all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448) GTAGGAAGAGCGGGCTTTCAC 0.423 MTDH 92140 broad.mit.edu 37 8 98735243 98735243 + Missense_Mutation SNP A G G TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr8:98735243A>G uc003yhz.2 + 11 1986 c.1658A>G c.(1657-1659)AAT>AGT p.N553S MTDH_uc010mbf.2_RNA NM_178812 NP_848927 Q86UE4 LYRIC_HUMAN metadherin 553 Cytoplasmic (Potential). lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity liver(1)|central_nervous_system(1) 2 Breast(36;2.56e-06) OV - Ovarian serous cystadenocarcinoma(57;0.178) ACCAAGCAAAATAGTGTGCCT 0.363 VPS13B 157680 broad.mit.edu 37 8 100732741 100732741 + Missense_Mutation SNP G A A TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr8:100732741G>A uc003yiv.2 + 38 7012 c.6901G>A c.(6901-6903)GAC>AAC p.D2301N VPS13B_uc003yiw.2_Missense_Mutation_p.D2276N NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 2301 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) AAGTTCAGATGACCTACGGAC 0.403 FBP2 8789 broad.mit.edu 37 9 97333780 97333780 + Silent SNP G A A TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr9:97333780G>A uc004auv.2 - 4 598 c.531C>T c.(529-531)TCC>TCT p.S177S uc004auu.2_Intron NM_003837 NP_003828 O00757 F16P2_HUMAN fructose-1,6-bisphosphatase 2 177 fructose metabolic process|gluconeogenesis cytosol fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding 0 Acute lymphoblastic leukemia(62;0.136) CTTGCCCTGTGGAGAGAGCCA 0.567 C9orf102 375748 broad.mit.edu 37 9 98669532 98669532 + Nonsense_Mutation SNP T G G TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr9:98669532T>G uc004avt.3 + 4 1188 c.800T>G c.(799-801)TTA>TGA p.L267* C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Intron|C9orf102_uc010mry.1_Intron|C9orf102_uc010mrz.2_Nonsense_Mutation_p.L78* NM_001010895 NP_001010895 Q5T890 RAD26_HUMAN RAD26L hypothetical protein 267 Helicase ATP-binding. DNA repair nucleus ATP binding|ATP-dependent helicase activity|DNA binding 0 Acute lymphoblastic leukemia(62;0.0559) ACACTACGCTTATGCCTGGAT 0.303 PALM2-AKAP2 445815 broad.mit.edu 37 9 112900147 112900147 + Missense_Mutation SNP T A A TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr9:112900147T>A uc004bei.2 + 9 3211 c.3019T>A c.(3019-3021)TTT>ATT p.F1007I PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.F775I|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.F775I|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.F585I|AKAP2_uc011lwi.1_Missense_Mutation_p.F633I|AKAP2_uc004bem.2_Missense_Mutation_p.F633I|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.F593I|AKAP2_uc011lwj.1_Missense_Mutation_p.F544I|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.F544I NM_001136562 NP_001130034 Q9Y2D5 AKAP2_HUMAN A kinase (PRKA) anchor protein 2 isoform 2 544 enzyme binding ovary(3)|central_nervous_system(2)|skin(1) 6 CTCCAAGTCATTTAGTGATCA 0.542 SVEP1 79987 broad.mit.edu 37 9 113189912 113189912 + Missense_Mutation SNP G T T TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr9:113189912G>T uc010mtz.2 - 36 6271 c.5934C>A c.(5932-5934)AAC>AAA p.N1978K SVEP1_uc010mty.2_5'UTR NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 1978 Sushi 10. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 TGAAAGTGAAGTTATTCCCCG 0.527 OREG0019389 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ZNF883 169834 broad.mit.edu 37 9 115759611 115759611 + Missense_Mutation SNP C T T TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr9:115759611C>T uc011lwy.1 - 5 2168 c.929G>A c.(928-930)CGA>CAA p.R310Q NM_001101338 NP_001094808 P0CG24 ZN883_HUMAN hypothetical protein LOC169834 310 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CCTCTGATGTCGAATTAGTGA 0.373 NR5A1 2516 broad.mit.edu 37 9 127262849 127262849 + Silent SNP C T T TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chr9:127262849C>T uc004boo.1 - 4 577 c.390G>A c.(388-390)CCG>CCA p.P130P NM_004959 NP_004950 Q13285 STF1_HUMAN nuclear receptor subfamily 5, group A, member 1 130 cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding 0 GAGGGGGCGGCGGGGGCACCC 0.697 P2RY8 286530 broad.mit.edu 37 X 1584460 1584460 + Missense_Mutation SNP G A A TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chrX:1584460G>A uc004cpz.2 - 2 1240 c.992C>T c.(991-993)ACG>ATG p.T331M NM_178129 NP_835230 Q86VZ1 P2RY8_HUMAN G-protein coupled purinergic receptor P2Y8 331 Cytoplasmic (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled lung(5) 5 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GCGCACGGACGTGGTCCTGGC 0.701 T CRLF2 B-ALL|Downs associated ALL RGAG1 57529 broad.mit.edu 37 X 109694900 109694900 + Missense_Mutation SNP C T T TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9225f366-b08b-4c43-a09f-a16b3bcfb5aa 60224709-45d6-4a6f-8b99-9ad6515e80fa g.chrX:109694900C>T uc004eor.1 + 3 1301 c.1055C>T c.(1054-1056)ACG>ATG p.T352M RGAG1_uc011msr.1_Missense_Mutation_p.T352M NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 352 lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 GCACTAATGACGGCCCTACCC 0.537