Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut ACTRT2 140625 broad.mit.edu 37 1 2939015 2939015 + Silent SNP G G A rs145991951 TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr1:2939015G>A uc001ajz.2 + 1 970 c.765G>A c.(763-765)CCG>CCA p.P255P NM_080431 NP_536356 Q8TDY3 ACTT2_HUMAN actin-related protein M2 255 cytoplasm|cytoskeleton 0 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) TCGGGGACCCGCTGCACCAGG 0.657 NA 11 62 0 0 0 0 STX12 23673 broad.mit.edu 37 1 28144385 28144385 + Silent SNP G G A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr1:28144385G>A uc001bou.3 + 7 725 c.600G>A c.(598-600)CAG>CAA p.Q200Q NM_177424 NP_803173 Q86Y82 STX12_HUMAN syntaxin 12 200 t-SNARE coiled-coil homology.|Cytoplasmic (Potential). cholesterol efflux|intracellular protein transport|protein stabilization|vesicle-mediated transport Golgi apparatus|integral to membrane|membrane raft|phagocytic vesicle SNAP receptor activity breast(1)|central_nervous_system(1) 2 Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649) ATGTCAATCAGATATTTAAAG 0.333 NA 6 27 0 0 0 0 C8A 731 broad.mit.edu 37 1 57340684 57340684 + Silent SNP C C A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr1:57340684C>A uc001cyo.2 + 3 366 c.234C>A c.(232-234)ATC>ATA p.I78I NM_000562 NP_000553 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 78 TSP type-1 1. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex ovary(1)|central_nervous_system(1)|skin(1) 3 GTGGTGACATCTGGGATCAAG 0.488 NA 16 28 1.15e-07 1.49e-07 1 0 ZZZ3 26009 broad.mit.edu 37 1 78098454 78098454 + Missense_Mutation SNP T T C TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr1:78098454T>C uc001dhq.2 - 5 1062 c.586A>G c.(586-588)ATC>GTC p.I196V ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.I196V|ZZZ3_uc001dhp.2_Missense_Mutation_p.I196V NM_015534 NP_056349 Q8IYH5 ZZZ3_HUMAN zinc finger, ZZ-type containing 3 196 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|large_intestine(1) 5 TAGCCTGTGATTTCTTCAACT 0.398 NA 9 94 0 0 0 0 NOTCH2 4853 broad.mit.edu 37 1 120512221 120512221 + Missense_Mutation SNP C C A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr1:120512221C>A uc001eik.2 - 6 1277 c.1021G>T c.(1021-1023)GAT>TAT p.D341Y NOTCH2_uc001eil.2_Missense_Mutation_p.D341Y|NOTCH2_uc001eim.3_Missense_Mutation_p.D258Y NM_024408 NP_077719 Q04721 NOTC2_HUMAN notch 2 preproprotein 341 Extracellular (Potential).|EGF-like 9; calcium-binding (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1) 27 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) AAGGCACAATCATCAATGTTC 0.562 NA N|F|Mis marginal zone lymphoma|DLBCL Alagille_Syndrome 14 57 6.32e-08 8.24e-08 1 0 FLG 2312 broad.mit.edu 37 1 152282297 152282297 + Missense_Mutation SNP C C G rs139417173 by1000genomes TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr1:152282297C>G uc001ezu.1 - 3 5101 c.5065G>C c.(5065-5067)GCA>CCA p.A1689P NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1689 Ser-rich.|Filaggrin 10. 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) GAGCTGTCTGCTGACTGCTGG 0.572 NA Ichthyosis 156 410 0 0 0 0 FLAD1 80308 broad.mit.edu 37 1 154961254 154961254 + Missense_Mutation SNP G G A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr1:154961254G>A uc001fgf.1 + 2 1400 c.1046G>A c.(1045-1047)GGA>GAA p.G349E FLAD1_uc001fgc.2_Missense_Mutation_p.G250E|FLAD1_uc001fgd.1_Missense_Mutation_p.G349E|FLAD1_uc001fge.1_Missense_Mutation_p.G252E|FLAD1_uc001fgg.1_Missense_Mutation_p.G252E|FLAD1_uc001fgh.1_Missense_Mutation_p.G82E NM_025207 NP_079483 Q8NFF5 FAD1_HUMAN flavin adenine dinucleotide synthetase isoform 349 FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|FMN adenylyltransferase activity ovary(2)|skin(1) 3 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) TTGCCCCAGGGATCGCTGGTC 0.562 NA 16 83 0 0 0 0 BAT2L2 23215 broad.mit.edu 37 1 171549100 171549100 + Missense_Mutation SNP A A G TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr1:171549100A>G uc010pmg.1 + 28 7666 c.7400A>G c.(7399-7401)TAT>TGT p.Y2467C BAT2L2_uc010pmh.1_Missense_Mutation_p.Y1379C|BAT2L2_uc010pmi.1_Missense_Mutation_p.Y304C|BAT2L2_uc010pmj.1_Translation_Start_Site NM_015172 NP_055987 Q9Y520 PRC2C_HUMAN HBxAg transactivated protein 2 2467 Gln-rich. protein C-terminus binding 0 CTTCAACCATATAGGTAAATG 0.448 NA 4 25 0 0 0 0 NEK2 4751 broad.mit.edu 37 1 211843718 211843718 + Missense_Mutation SNP G G C TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr1:211843718G>C uc001hir.1 - 5 816 c.670C>G c.(670-672)CTC>GTC p.L224V NEK2_uc001hiq.1_Missense_Mutation_p.L224V|NEK2_uc001his.3_Missense_Mutation_p.L224V|NEK2_uc001hit.1_RNA NM_002497 NP_002488 P51955 NEK2_HUMAN NIMA-related kinase 2 224 Protein kinase. cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis centrosome|condensed chromosome kinetochore|cytosol|nucleolus ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity breast(2)|stomach(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546) TTCCCAGCGAGTTCTTTCTGG 0.343 NA 19 202 0 0 0 0 URB2 9816 broad.mit.edu 37 1 229794895 229794895 + Missense_Mutation SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr1:229794895C>T uc001hts.1 + 10 4562 c.4426C>T c.(4426-4428)CTC>TTC p.L1476F URB2_uc009xfd.1_Missense_Mutation_p.L1476F NM_014777 NP_055592 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog 1476 nucleolus central_nervous_system(2)|ovary(1) 3 GGGCATTTACCTCATCCTGGA 0.517 NA 54 127 0 0 0 0 SLC39A12 221074 broad.mit.edu 37 10 18289628 18289628 + Silent SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr10:18289628C>T uc001ipo.2 + 11 1906 c.1633C>T c.(1633-1635)CTG>TTG p.L545L SLC39A12_uc001ipn.2_Silent_p.L508L|SLC39A12_uc001ipp.2_Silent_p.L544L|SLC39A12_uc010qck.1_Silent_p.L411L NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), 545 Helical; (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1)|breast(1) 2 AATCATGATTCTGGTTGGGGA 0.423 NA 21 58 0 0 0 0 OR52K1 390036 broad.mit.edu 37 11 4510853 4510853 + Silent SNP G G A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr11:4510853G>A uc001lza.1 + 1 723 c.723G>A c.(721-723)GGG>GGA p.G241G NM_001005171 NP_001005171 Q8NGK4 O52K1_HUMAN olfactory receptor, family 52, subfamily K, 241 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192) AGGCATTTGGGACATGTGTGT 0.537 NA 55 121 0 0 0 0 FNBP4 23360 broad.mit.edu 37 11 47741494 47741494 + Nonsense_Mutation SNP G G A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr11:47741494G>A uc009ylv.2 - 16 3103 c.2950C>T c.(2950-2952)CAG>TAG p.Q984* FNBP4_uc001ngi.2_Nonsense_Mutation_p.Q298*|FNBP4_uc001ngj.2_Nonsense_Mutation_p.Q891* NM_015308 NP_056123 Q8N3X1 FNBP4_HUMAN formin binding protein 4 984 ovary(1) 1 ACCAGCTGCTGCTGTTTCCAC 0.443 NA 12 60 0 0 0 0 OR5T1 390155 broad.mit.edu 37 11 56043788 56043788 + Missense_Mutation SNP T T C TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr11:56043788T>C uc001nio.1 + 1 674 c.674T>C c.(673-675)ATT>ACT p.I225T NM_001004745 NP_001004745 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, 225 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1) 3 Esophageal squamous(21;0.00448) ACTATCCTGATTGTCCTGATC 0.428 NA 58 131 0 0 0 0 SHANK2 22941 broad.mit.edu 37 11 70319378 70319378 + Missense_Mutation SNP C C G TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr11:70319378C>G uc001oqc.2 - 22 5224 c.5146G>C c.(5146-5148)GAG>CAG p.E1716Q SHANK2_uc010rqn.1_Missense_Mutation_p.E1128Q|SHANK2_uc001opz.2_Missense_Mutation_p.E1121Q|uc009ysn.1_Intron|SHANK2_uc001opy.2_Missense_Mutation_p.E52Q NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 1337 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) TTGTTCATCTCTGTTGGCGAG 0.632 NA 26 420 0 0 0 0 SHANK2 22941 broad.mit.edu 37 11 70332717 70332717 + Missense_Mutation SNP C C A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr11:70332717C>A uc001oqc.2 - 21 3759 c.3681G>T c.(3679-3681)ATG>ATT p.M1227I SHANK2_uc010rqn.1_Missense_Mutation_p.M639I|SHANK2_uc001opz.2_Missense_Mutation_p.M632I|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 848 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) GAGACTCCTTCATGGCTCGGT 0.627 NA 25 506 3.01e-09 3.96e-09 1 0 OR10S1 219873 broad.mit.edu 37 11 123847523 123847523 + Silent SNP G G T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr11:123847523G>T uc001pzm.1 - 1 876 c.876C>A c.(874-876)ATC>ATA p.I292I NM_001004474 NP_001004474 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, 292 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TTGGAGTTACGATTGTGTAGA 0.537 NA 33 76 2.5e-28 3.44e-28 1 0 ADAMTS8 11095 broad.mit.edu 37 11 130281312 130281312 + Missense_Mutation SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr11:130281312C>T uc001qgg.3 - 6 2108 c.1750G>A c.(1750-1752)GGG>AGG p.G584R ADAMTS8_uc001qgf.2_Missense_Mutation_p.G65R NM_007037 NP_008968 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 584 Cys-rich. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1) 1 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) TGGTAATTACCGTCAGGGGGG 0.587 NA 13 30 0 0 0 0 OLR1 4973 broad.mit.edu 37 12 10313470 10313470 + Missense_Mutation SNP G G A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr12:10313470G>A uc001qxo.1 - 4 593 c.479C>T c.(478-480)TCG>TTG p.S160L OLR1_uc010sgz.1_Intron|OLR1_uc010sha.1_Intron NM_002543 NP_002534 P78380 OLR1_HUMAN oxidized low density lipoprotein (lectin-like) 160 Extracellular (Potential).|C-type lectin. blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis extracellular region|integral to plasma membrane|membrane fraction sugar binding ovary(1) 1 AAATGAGCCCGAGGAAAATAG 0.428 NA 38 110 0 0 0 0 ITPR2 3709 broad.mit.edu 37 12 26808652 26808652 + Silent SNP G G A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr12:26808652G>A uc001rhg.2 - 20 2995 c.2578C>T c.(2578-2580)CTG>TTG p.L860L NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 860 Cytoplasmic (Potential). activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) TCAAATGTCAGTTTATTTTTT 0.313 NA 20 58 0 0 0 0 SLC4A8 9498 broad.mit.edu 37 12 51883736 51883736 + Splice_Site SNP G G A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr12:51883736G>A uc001rys.1 + 19 2878 c.2700_splice c.e19+1 p.K900_splice SLC4A8_uc001rym.2_Splice_Site_p.K847_splice|SLC4A8_uc001ryn.2_Splice_Site_p.K847_splice|SLC4A8_uc001ryo.2_Splice_Site_p.K847_splice|SLC4A8_uc010snj.1_Splice_Site_p.K927_splice|SLC4A8_uc001ryr.2_Splice_Site_p.K900_splice NM_001039960 NP_001035049 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity ovary(3)|pancreas(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.15) TATCTTAAAGGTAATCATCCT 0.269 NA 10 64 0 0 0 0 SMUG1 23583 broad.mit.edu 37 12 54576251 54576251 + Missense_Mutation SNP G G T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr12:54576251G>T uc001sff.1 - 4 571 c.442C>A c.(442-444)CTC>ATC p.L148I SMUG1_uc001sfa.1_5'Flank|SMUG1_uc001sfe.1_3'UTR|SMUG1_uc001sfg.1_Missense_Mutation_p.L148I|SMUG1_uc009znf.1_Missense_Mutation_p.L148I|SMUG1_uc001sfb.3_Intron|SMUG1_uc001sfc.3_Intron|SMUG1_uc001sfd.3_Intron NM_014311 NP_055126 Q53HV7 SMUG1_HUMAN single-strand-selective monofunctional 148 Missing (in Ref. 3; BAC03670). depyrimidination nucleolus|nucleoplasm DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity 0 TGTCCACAGAGGTTCCGGAAA 0.567 NA BER_DNA_glycosylases 17 109 1.15e-07 1.49e-07 1 0 TSPAN19 144448 broad.mit.edu 37 12 85421708 85421708 + Missense_Mutation SNP A A G TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr12:85421708A>G uc009zsj.2 - 4 334 c.233T>C c.(232-234)ATT>ACT p.I78T NM_001100917 NP_001094387 P0C672 TSN19_HUMAN tetraspanin 19 78 Helical; (Potential). integral to membrane ovary(1) 1 TTCGTTGTGAATTCCTATATA 0.299 NA 3 13 0 0 0 0 TXNRD1 7296 broad.mit.edu 37 12 104725379 104725379 + Missense_Mutation SNP A A G TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr12:104725379A>G uc010swk.1 + 14 1632 c.1610A>G c.(1609-1611)GAG>GGG p.E537G TXNRD1_uc010swl.1_Missense_Mutation_p.E387G|TXNRD1_uc010swm.1_Missense_Mutation_p.E439G|TXNRD1_uc010swn.1_Missense_Mutation_p.E387G|TXNRD1_uc010swo.1_Missense_Mutation_p.E387G|TXNRD1_uc010swp.1_Missense_Mutation_p.E349G|TXNRD1_uc010swq.1_Missense_Mutation_p.E437G|TXNRD1_uc001tku.2_RNA|TXNRD1_uc009zun.2_Missense_Mutation_p.E453G NM_001093771 NP_001087240 Q16881 TRXR1_HUMAN thioredoxin reductase 1 isoform 3 537 cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport cytosol|nucleolus electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity 0 GGCCTTTCTGAGGAGAAAGCT 0.333 NA 4 22 0 0 0 0 RFC5 5985 broad.mit.edu 37 12 118467588 118467588 + Missense_Mutation SNP C C G TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr12:118467588C>G uc001twq.2 + 10 1009 c.884C>G c.(883-885)TCT>TGT p.S295C RFC5_uc010syx.1_Missense_Mutation_p.S274C|RFC5_uc010syy.1_Missense_Mutation_p.S274C|RFC5_uc010syz.1_Missense_Mutation_p.S210C|RFC5_uc009zwr.2_Missense_Mutation_p.S292C NM_007370 NP_031396 P40937 RFC5_HUMAN replication factor C 5 isoform 1 295 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|enzyme binding 0 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GACTTTCCATCTTCAGTTCGA 0.373 NA 20 101 0 0 0 0 CLIP1 6249 broad.mit.edu 37 12 122839067 122839067 + Nonsense_Mutation SNP G G A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr12:122839067G>A uc001ucg.1 - 6 1346 c.1240C>T c.(1240-1242)CGA>TGA p.R414* CLIP1_uc001uch.1_Nonsense_Mutation_p.R414*|CLIP1_uc001uci.1_Nonsense_Mutation_p.R414*|CLIP1_uc001ucj.1_Nonsense_Mutation_p.R115*|CLIP1_uc009zxo.1_Nonsense_Mutation_p.R5*|CLIP1_uc010tae.1_Nonsense_Mutation_p.R348* NM_002956 NP_002947 P30622 CLIP1_HUMAN restin isoform a 414 Potential. mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding ovary(2)|breast(1) 3 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) ACCATTGTTCGCAGCTGGTCC 0.507 NA 12 60 0 0 0 0 FRY 10129 broad.mit.edu 37 13 32798468 32798468 + Missense_Mutation SNP C C A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr13:32798468C>A uc001utx.2 + 37 5358 c.4862C>A c.(4861-4863)GCC>GAC p.A1621D FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 1621 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) GGATGCTGGGCCCCCCTGGTT 0.572 NA 26 68 2.45e-14 3.32e-14 1 0 ING1 3621 broad.mit.edu 37 13 111371619 111371619 + Silent SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr13:111371619C>T uc001vri.2 + 2 1041 c.609C>T c.(607-609)CGC>CGT p.R203R ING1_uc001vrf.2_Silent_p.R16R|ING1_uc001vrg.2_5'UTR|ING1_uc001vrh.2_Silent_p.R60R NM_005537 NP_005528 Q9UK53 ING1_HUMAN inhibitor of growth family, member 1 isoform D 203 cell cycle|negative regulation of cell growth|negative regulation of cell proliferation nucleus zinc ion binding ovary(1) 1 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.188) GCTTCAGTCGCGAGACAGACG 0.647 NA 13 91 0 0 0 0 DHRS7 51635 broad.mit.edu 37 14 60622827 60622827 + Silent SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr14:60622827C>T uc001xes.2 - 2 361 c.177G>A c.(175-177)TCG>TCA p.S59S C14orf135_uc001xeq.2_Intron|DHRS7_uc001xet.2_Silent_p.S9S|DHRS7_uc001xeu.2_Silent_p.S59S NM_016029 NP_057113 Q9Y394 DHRS7_HUMAN dehydrogenase/reductase (SDR family) member 7 59 NAD (By similarity). binding|oxidoreductase activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.121) CAATTCCACTCGAGGCTCCAG 0.448 NA 10 86 0 0 0 0 CILP 8483 broad.mit.edu 37 15 65490732 65490732 + Missense_Mutation SNP T T C TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr15:65490732T>C uc002aon.2 - 9 2073 c.1892A>G c.(1891-1893)AAT>AGT p.N631S NM_003613 NP_003604 O75339 CILP1_HUMAN cartilage intermediate layer protein 631 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix ovary(4)|pancreas(2)|skin(1) 7 TGTGGAAATATTCCGGGGATC 0.517 NA 51 124 0 0 0 0 C15orf60 283677 broad.mit.edu 37 15 73766183 73766183 + Missense_Mutation SNP C C G TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr15:73766183C>G uc002avq.2 + 2 198 c.170C>G c.(169-171)TCC>TGC p.S57C C15orf60_uc010bjb.2_Missense_Mutation_p.S57C NM_001042367 NP_001035826 Q7Z4M0 CO060_HUMAN hypothetical protein LOC283677 57 pancreas(1) 1 GTTTTTGATTCCAATGAAGAA 0.323 NA 5 6 0 0 0 0 CSPG4 1464 broad.mit.edu 37 15 75981392 75981392 + Nonsense_Mutation SNP G G A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr15:75981392G>A uc002baw.2 - 3 2107 c.2014C>T c.(2014-2016)CGA>TGA p.R672* NM_001897 NP_001888 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 precursor 672 CSPG 3.|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity ovary(2)|pancreas(1) 3 TGGGCCAGTCGCAACCCTGTG 0.672 NA 13 86 0 0 0 0 PEX11A 8800 broad.mit.edu 37 15 90226795 90226795 + Missense_Mutation SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr15:90226795C>T uc002boi.2 - 3 652 c.557G>A c.(556-558)CGA>CAA p.R186Q PEX11A_uc010upy.1_RNA NM_003847 NP_003838 O75192 PX11A_HUMAN peroxisomal biogenesis factor 11 alpha 186 Lumenal (Potential). cellular lipid metabolic process|peroxisome fission|signal transduction integral to peroxisomal membrane 0 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) CTTCAGAGATCGGAATAAAAG 0.473 NA 40 232 0 0 0 0 USP31 57478 broad.mit.edu 37 16 23117561 23117561 + Missense_Mutation SNP G G A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr16:23117561G>A uc002dll.2 - 4 926 c.926C>T c.(925-927)TCT>TTT p.S309F NM_020718 NP_065769 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 309 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1) 10 GBM - Glioblastoma multiforme(48;0.0187) AATTGGCAAAGAAATGCAAAG 0.383 NA 6 42 0 0 0 0 CDYL2 124359 broad.mit.edu 37 16 80654799 80654799 + Missense_Mutation SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr16:80654799C>T uc002ffs.2 - 4 973 c.868G>A c.(868-870)GCA>ACA p.A290T NM_152342 NP_689555 Q8N8U2 CDYL2_HUMAN chromodomain protein, Y-like 2 290 nucleus catalytic activity|protein binding central_nervous_system(1) 1 TCTGTGGCTGCGTTGCAGAGC 0.557 NA 9 40 0 0 0 0 PELP1 27043 broad.mit.edu 37 17 4594214 4594214 + Missense_Mutation SNP G G C TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr17:4594214G>C uc002fyi.3 - 3 615 c.389C>G c.(388-390)TCT>TGT p.S130C PELP1_uc010vsf.1_5'UTR NM_014389 NP_055204 Q8IZL8 PELP1_HUMAN proline, glutamic acid and leucine rich protein 130 transcription, DNA-dependent cytoplasm|MLL1 complex protein binding ovary(1)|central_nervous_system(1) 2 CCGAAGCCAAGACACACAGTG 0.537 NA 12 53 0 0 0 0 DNAH9 1770 broad.mit.edu 37 17 11572997 11572997 + Missense_Mutation SNP T T G TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr17:11572997T>G uc002gne.2 + 17 3307 c.3239T>G c.(3238-3240)GTG>GGG p.V1080G DNAH9_uc010coo.2_Missense_Mutation_p.V374G NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 1080 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CCCATCAAGGTGTTTGACGGC 0.468 NA 21 150 0 0 0 0 NF1 4763 broad.mit.edu 37 17 29586061 29586061 + Missense_Mutation SNP T T A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr17:29586061T>A uc002hgg.2 + 33 4677 c.4344T>A c.(4342-4344)AGT>AGA p.S1448R NF1_uc002hgh.2_Missense_Mutation_p.S1427R|NF1_uc002hgi.1_Missense_Mutation_p.S460R NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 1448 Ras-GAP. actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.?(3) soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TACTTCAGAGTATTGCCAATC 0.313 NA D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 4 14 0 0 0 0 LRRC37B 114659 broad.mit.edu 37 17 30349724 30349724 + Missense_Mutation SNP T T G TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr17:30349724T>G uc002hgu.2 + 1 1570 c.1559T>G c.(1558-1560)ATA>AGA p.I520R LRRC37B_uc010wbx.1_Missense_Mutation_p.I438R|LRRC37B_uc010csu.2_Missense_Mutation_p.I520R NM_052888 NP_443120 Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B precursor 520 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) AGCACCAACATATGTGAGCTC 0.537 NA 57 164 0 0 0 0 UBTF 7343 broad.mit.edu 37 17 42288993 42288993 + Missense_Mutation SNP T T C TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr17:42288993T>C uc002igb.2 - 9 1095 c.1028A>G c.(1027-1029)TAT>TGT p.Y343C UBTF_uc002igc.2_Missense_Mutation_p.Y306C|UBTF_uc010czs.2_Missense_Mutation_p.Y343C|UBTF_uc002igd.2_Missense_Mutation_p.Y306C|UBTF_uc010czt.2_Missense_Mutation_p.Y343C|UBTF_uc002ige.2_Missense_Mutation_p.Y306C NM_014233 NP_055048 P17480 UBF1_HUMAN upstream binding transcription factor, RNA 343 HMG box 3. positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm DNA binding|protein binding 0 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.114) CTTCTTGTGATAGGCGTCCTT 0.587 NA 31 134 0 0 0 0 LRRC37A2 474170 broad.mit.edu 37 17 44626341 44626341 + Missense_Mutation SNP T T C TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr17:44626341T>C uc002ikn.1 + 9 3839 c.3836T>C c.(3835-3837)ATT>ACT p.I1279T ARL17A_uc002iko.3_Intron|LRRC37A2_uc002ikq.1_Missense_Mutation_p.I240T|LRRC37A2_uc010dax.1_Missense_Mutation_p.I209T NM_001006607 NP_001006608 A6NM11 L37A2_HUMAN c114 SLIT-like testicular protein precursor 1279 Extracellular (Potential). integral to membrane 0 Melanoma(429;0.211) BRCA - Breast invasive adenocarcinoma(366;0.232) ACCCACGCTATTTCCATTTTA 0.468 NA 18 96 0 0 0 0 AKAP1 8165 broad.mit.edu 37 17 55196358 55196358 + Missense_Mutation SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr17:55196358C>T uc002iux.2 + 10 2821 c.2590C>T c.(2590-2592)CCA>TCA p.P864S AKAP1_uc010wnl.1_Missense_Mutation_p.P864S|AKAP1_uc010dcm.2_Missense_Mutation_p.P864S NM_003488 NP_003479 Q92667 AKAP1_HUMAN A-kinase anchor protein 1 precursor 864 blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding ovary(1) 1 Breast(9;5.46e-08) AAGTTACAGTCCAACTGGTCT 0.333 NA 70 261 0 0 0 0 FAM20A 54757 broad.mit.edu 37 17 66536060 66536060 + Missense_Mutation SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr17:66536060C>T uc002jho.2 - 9 1555 c.1267G>A c.(1267-1269)GAT>AAT p.D423N FAM20A_uc010wqp.1_Missense_Mutation_p.D285N|PRKAR1A_uc002jhm.2_Intron|FAM20A_uc002jhn.2_Missense_Mutation_p.D134N NM_017565 NP_060035 Q96MK3 FA20A_HUMAN family with sequence similarity 20, member A 423 extracellular region 0 Breast(10;1.64e-13) AGGAACCCATCATCCCCGAAC 0.567 NA 8 49 0 0 0 0 ABCA9 10350 broad.mit.edu 37 17 66978771 66978771 + Missense_Mutation SNP A A G TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr17:66978771A>G uc002jhu.2 - 37 4795 c.4652T>C c.(4651-4653)CTG>CCG p.L1551P ABCA9_uc010dez.2_Missense_Mutation_p.L1513P NM_080283 NP_525022 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A, member 9 1551 transport integral to membrane ATP binding|ATPase activity ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 Breast(10;1.47e-12) ATAGACCATCAGGGAGGAGAA 0.433 NA 3 106 0 0 0 0 SMCHD1 23347 broad.mit.edu 37 18 2673310 2673310 + Nonsense_Mutation SNP C C G TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr18:2673310C>G uc002klm.3 + 4 644 c.455C>G c.(454-456)TCA>TGA p.S152* NM_015295 NP_056110 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible 152 chromosome organization ATP binding 0 ATTGACAATTCATTGTCTGCT 0.328 NA 8 22 0 0 0 0 CDH2 1000 broad.mit.edu 37 18 25532209 25532209 + Missense_Mutation SNP T T G TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr18:25532209T>G uc002kwg.2 - 16 3088 c.2629A>C c.(2629-2631)AGT>CGT p.S877R CDH2_uc010xbn.1_Missense_Mutation_p.S846R NM_001792 NP_001783 P19022 CADH2_HUMAN cadherin 2, type 1 preproprotein 877 Ser-rich.|Cytoplasmic (Potential). adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding ovary(3)|lung(1) 4 CCACCACTACTTGAGGAATTA 0.507 NA OREG0003876 type=REGULATORY REGION|Gene=CDH2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 15 95 0 0 0 0 FAM59A 64762 broad.mit.edu 37 18 29867548 29867548 + Missense_Mutation SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr18:29867548C>T uc002kxl.2 - 4 1068 c.1012G>A c.(1012-1014)GAG>AAG p.E338K FAM59A_uc002kxk.1_Missense_Mutation_p.E338K NM_022751 NP_073588 Q9H706 FA59A_HUMAN family with sequence similarity 59, member A 338 ovary(1)|skin(1) 2 CGTGAATACTCATCGATGTCG 0.547 NA 13 103 0 0 0 0 NOL4 8715 broad.mit.edu 37 18 31538215 31538215 + Silent SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr18:31538215C>T uc010dmi.2 - 7 1453 c.1224G>A c.(1222-1224)CTG>CTA p.L408L NOL4_uc010xbs.1_Silent_p.L123L|NOL4_uc002kxr.3_Silent_p.L244L|NOL4_uc010xbt.1_Silent_p.L334L|NOL4_uc010dmh.2_Silent_p.L334L|NOL4_uc010xbu.1_Silent_p.L408L|NOL4_uc002kxt.3_Silent_p.L408L|NOL4_uc010xbv.1_Silent_p.L157L|NOL4_uc010xbw.1_Silent_p.L294L NM_003787 NP_003778 O94818 NOL4_HUMAN nucleolar protein 4 408 nucleolus RNA binding ovary(3) 3 TAAAAGCTTTCAGCCGCTCGG 0.448 NA 40 85 0 0 0 0 MEX3D 399664 broad.mit.edu 37 19 1556787 1556788 + Missense_Mutation DNP GC GC TT TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr19:1556787_1556788GC>TT uc010dsn.2 - 2 730_731 c.730_731GC>AA c.(730-732)GCC>AAC p.A244N NM_203304 NP_976049 Q86XN8 MEX3D_HUMAN ring finger and KH domain containing 1 244 mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis nucleus|perinuclear region of cytoplasm AU-rich element binding|zinc ion binding lung(1) 1 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GAAGTGTTCGGCCGCCGACAGG 0.688 NA 19 49 0 0 0 0 OR2Z1 284383 broad.mit.edu 37 19 8841649 8841649 + Missense_Mutation SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr19:8841649C>T uc010xkg.1 + 1 259 c.259C>T c.(259-261)CGG>TGG p.R87W NM_001004699 NP_001004699 Q8NG97 OR2Z1_HUMAN olfactory receptor, family 2, subfamily Z, 87 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 AGACTTTCTGCGGGGAGAAGG 0.552 NA 19 74 0 0 0 0 ANGPTL6 83854 broad.mit.edu 37 19 10203335 10203335 + Missense_Mutation SNP C C G TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr19:10203335C>G uc002mmx.1 - 6 1461 c.1343G>C c.(1342-1344)TGG>TCG p.W448S C19orf66_uc002mmu.3_3'UTR|C19orf66_uc002mmv.3_3'UTR|C19orf66_uc002mmw.3_3'UTR|ANGPTL6_uc002mmy.1_Missense_Mutation_p.W448S NM_031917 NP_114123 Q8NI99 ANGL6_HUMAN angiopoietin-like 6 precursor 448 Fibrinogen C-terminal. angiogenesis|cell differentiation|signal transduction extracellular space receptor binding 0 OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05) AAACTCAGCCCAGTAGACACC 0.617 NA 28 83 0 0 0 0 ZNF208 7757 broad.mit.edu 37 19 22157159 22157159 + Missense_Mutation SNP T T C TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr19:22157159T>C uc002nqp.2 - 4 826 c.677A>G c.(676-678)GAG>GGG p.E226G ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) GTAGGGTTTCTCTCCAGTATG 0.358 NA 15 57 0 0 0 0 DPY19L3 147991 broad.mit.edu 37 19 32930743 32930743 + Missense_Mutation SNP A A G TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr19:32930743A>G uc002ntg.2 + 8 958 c.782A>G c.(781-783)AAT>AGT p.N261S DPY19L3_uc002nth.1_Missense_Mutation_p.N261S|DPY19L3_uc002nti.1_RNA NM_207325 NP_997208 Q6ZPD9 D19L3_HUMAN dpy-19-like 3 261 Helical; (Potential). integral to membrane ovary(4) 4 Esophageal squamous(110;0.162) TGGCAATTTAATCAATTTATG 0.388 NA 28 49 0 0 0 0 ZSCAN5A 79149 broad.mit.edu 37 19 56734095 56734095 + Silent SNP G G A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr19:56734095G>A uc002qmq.2 - 4 770 c.604C>T c.(604-606)CTA>TTA p.L202L ZSCAN5A_uc010ygi.1_Silent_p.L85L|ZSCAN5A_uc002qmr.2_Silent_p.L202L|ZSCAN5A_uc002qms.1_Silent_p.L202L NM_024303 NP_077279 Q9BUG6 ZSA5A_HUMAN zinc finger and SCAN domain containing 5A 202 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(1)|ovary(1)|skin(1) 3 CTCTTGTGTAGCAGAAAGTCC 0.488 NA 17 68 0 0 0 0 ABHD1 84696 broad.mit.edu 37 2 27352690 27352690 + Missense_Mutation SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr2:27352690C>T uc002rit.2 + 6 846 c.686C>T c.(685-687)TCT>TTT p.S229F ABHD1_uc002riu.2_RNA|ABHD1_uc002riv.2_RNA NM_032604 NP_115993 Q96SE0 ABHD1_HUMAN abhydrolase domain-containing protein 1 229 integral to membrane carboxylesterase activity 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTGACTCTGTCTGCATGCTGG 0.567 NA 16 81 0 0 0 0 THADA 63892 broad.mit.edu 37 2 43801884 43801884 + Silent SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr2:43801884C>T uc002rsw.3 - 11 1672 c.1320G>A c.(1318-1320)TTG>TTA p.L440L THADA_uc002rsx.3_Silent_p.L440L|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Silent_p.L150L|THADA_uc002rta.2_Silent_p.L150L|THADA_uc002rtb.1_Silent_p.L440L|THADA_uc002rtc.3_Silent_p.L440L|THADA_uc002rtd.2_Silent_p.L440L NM_001083953 NP_001077422 Q6YHU6 THADA_HUMAN thyroid adenoma associated 440 binding ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) GACTCTCAGTCAATTCCACAA 0.418 NA 34 83 0 0 0 0 RANBP2 5903 broad.mit.edu 37 2 109382140 109382140 + Silent SNP C C T rs139290272 byFrequency TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr2:109382140C>T uc002tem.3 + 20 5271 c.5145C>T c.(5143-5145)AGC>AGT p.S1715S NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 1715 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 CTCCAAAGAGCGGATTTGAGG 0.428 NA 25 130 0 0 0 0 WDR33 55339 broad.mit.edu 37 2 128471233 128471233 + Missense_Mutation SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr2:128471233C>T uc002tpg.1 - 18 3415 c.3232G>A c.(3232-3234)GAA>AAA p.E1078K NM_018383 NP_060853 Q9C0J8 WDR33_HUMAN WD repeat domain 33 isoform 1 1078 postreplication repair|spermatogenesis collagen|nucleus protein binding 0 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) CTGCGGCCTTCCCATGCCCCC 0.677 NA 33 128 0 0 0 0 ZEB2 9839 broad.mit.edu 37 2 145147391 145147391 + Missense_Mutation SNP G G T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr2:145147391G>T uc002tvu.2 - 10 3752 c.3272C>A c.(3271-3273)GCG>GAG p.A1091E ZEB2_uc002tvv.2_Missense_Mutation_p.A1085E|ZEB2_uc010zbm.1_Missense_Mutation_p.A1062E|ZEB2_uc010fnp.2_Intron NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 1091 Glu-rich (acidic). cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) CTCGCGCTCCGCCGCTTCCCG 0.602 NA 17 91 5.01e-05 6.32e-05 1 0 TTN 7273 broad.mit.edu 37 2 179669322 179669322 + Silent SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr2:179669322C>T uc002und.2 - 2 273 c.48G>A c.(46-48)GTG>GTA p.V16V TTN_uc010zfg.1_Silent_p.V16V|TTN_uc010zfh.1_Silent_p.V16V|TTN_uc010zfi.1_Silent_p.V16V|TTN_uc010zfj.1_Silent_p.V16V|TTN_uc002unb.2_Silent_p.V16V Q8WZ42 TITIN_HUMAN Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein. 16 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) CCTCCAGTACCACAACGCTTT 0.438 NA 14 59 0 0 0 0 NRP2 8828 broad.mit.edu 37 2 206562314 206562314 + Silent SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr2:206562314C>T uc002vaw.2 + 2 911 c.120C>T c.(118-120)ATC>ATT p.I40I NRP2_uc002vat.2_Silent_p.I40I|NRP2_uc002vau.2_Silent_p.I40I|NRP2_uc002vav.2_Silent_p.I40I|NRP2_uc002vax.2_Silent_p.I40I|NRP2_uc002vay.2_Silent_p.I40I|NRP2_uc010fud.2_Silent_p.I40I NM_201266 NP_957718 O60462 NRP2_HUMAN neuropilin 2 isoform 1 precursor 40 Extracellular (Potential).|CUB 1. angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 CTGGCTATATCACCTCTCCCG 0.498 NA 62 371 0 0 0 0 CUL3 8452 broad.mit.edu 37 2 225376090 225376090 + Silent SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr2:225376090C>T uc002vny.2 - 6 1248 c.864G>A c.(862-864)TTG>TTA p.L288L CUL3_uc010zls.1_Silent_p.L222L|CUL3_uc010fwy.1_Silent_p.L294L NM_003590 NP_003581 Q13618 CUL3_HUMAN cullin 3 288 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1) 4 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) TTCCATTTTTCAACATATGTA 0.338 NA 24 110 0 0 0 0 CUL3 8452 broad.mit.edu 37 2 225378279 225378279 + Missense_Mutation SNP C C G TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr2:225378279C>G uc002vny.2 - 5 1000 c.616G>C c.(616-618)GAG>CAG p.E206Q CUL3_uc010zls.1_Missense_Mutation_p.E140Q|CUL3_uc010fwy.1_Missense_Mutation_p.E212Q NM_003590 NP_003581 Q13618 CUL3_HUMAN cullin 3 206 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1) 4 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) AAAGGAGCCTCAAAATCTTCT 0.308 NA 5 24 0 0 0 0 C20orf30 29058 broad.mit.edu 37 20 5086842 5086842 + Missense_Mutation SNP T T G TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr20:5086842T>G uc002wll.2 - 4 680 c.214A>C c.(214-216)AGC>CGC p.S72R C20orf30_uc010gbi.2_Missense_Mutation_p.S72R|C20orf30_uc002wlk.2_Missense_Mutation_p.S135R|C20orf30_uc002wlm.2_Missense_Mutation_p.S72R|C20orf30_uc002wln.2_Missense_Mutation_p.S72R|C20orf30_uc002wlo.2_RNA NM_001009924 NP_001009924 Q96A57 CT030_HUMAN hypothetical protein LOC29058 isoform 2 72 integral to membrane 0 ACCCCTTTGCTGATGTAGCCT 0.388 NA 3 85 0 0 0 0 C20orf26 26074 broad.mit.edu 37 20 20054956 20054956 + Missense_Mutation SNP C C G TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr20:20054956C>G uc002wru.2 + 4 381 c.305C>G c.(304-306)ACG>AGG p.T102R C20orf26_uc010gcw.1_Missense_Mutation_p.T56R|C20orf26_uc010zse.1_Missense_Mutation_p.T102R|C20orf26_uc010zsf.1_Missense_Mutation_p.T102R NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 102 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) CCCCTGAATACGTTGTTCATG 0.512 NA 33 113 0 0 0 0 CST1 1469 broad.mit.edu 37 20 23731396 23731396 + Missense_Mutation SNP G G T rs143815991 TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr20:23731396G>T uc002wtp.2 - 1 179 c.108C>A c.(106-108)AAC>AAA p.N36K NM_001898 NP_001889 P01037 CYTN_HUMAN cystatin SN precursor 36 extracellular region cysteine-type endopeptidase inhibitor activity ovary(1) 1 Lung NSC(19;0.0676)|all_lung(19;0.148) TGAGGTCTGCGTTATAGATGC 0.572 NA 7 63 1.13e-05 1.44e-05 1 0 NEURL2 140825 broad.mit.edu 37 20 44519120 44519120 + Missense_Mutation SNP G G C TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr20:44519120G>C uc002xqg.1 - 1 782 c.511C>G c.(511-513)CTC>GTC p.L171V C20orf165_uc002xqf.2_5'Flank|CTSA_uc002xqh.2_5'Flank|CTSA_uc002xqj.3_5'Flank|CTSA_uc002xqi.2_5'Flank|CTSA_uc010zxi.1_5'Flank|CTSA_uc002xqk.3_5'Flank NM_080749 NP_542787 Q9BR09 NEUL2_HUMAN neuralized-like protein 2 171 NHR. intracellular signal transduction 0 Myeloproliferative disorder(115;0.0122) TGGTCCAAGAGATGGCTGTAG 0.657 NA OREG0025985 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 77 0 0 0 0 CSE1L 1434 broad.mit.edu 37 20 47704564 47704564 + Missense_Mutation SNP C C A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr20:47704564C>A uc002xty.2 + 17 1876 c.1742C>A c.(1741-1743)TCT>TAT p.S581Y CSE1L_uc010zyg.1_Missense_Mutation_p.S364Y|CSE1L_uc010ghx.2_Missense_Mutation_p.S525Y|CSE1L_uc010ghy.2_Missense_Mutation_p.S202Y|CSE1L_uc010zyh.1_Missense_Mutation_p.S230Y NM_001316 NP_001307 P55060 XPO2_HUMAN CSE1 chromosome segregation 1-like protein 581 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) AGAAGTTTTTCTCTCCTACAA 0.373 NA 11 27 2.81e-09 3.7e-09 1 0 CBLN4 140689 broad.mit.edu 37 20 54578941 54578941 + Missense_Mutation SNP T T G TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr20:54578941T>G uc002xxa.2 - 1 1072 c.287A>C c.(286-288)GAT>GCT p.D96A NM_080617 NP_542184 Q9NTU7 CBLN4_HUMAN cerebellin 4 precursor 96 C1q. cell junction|extracellular region|synapse ovary(3)|pancreas(1) 4 Colorectal(105;0.202) TCTGACCTGATCGAAGTAAAT 0.647 NA 30 192 0 0 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28307044 28307044 + Missense_Mutation SNP C C A rs142161826 TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr21:28307044C>A uc002ymg.2 - 4 2159 c.1430G>T c.(1429-1431)CGA>CTA p.R477L NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 477 proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 GATCTGCTTTCGTGGTAGGTC 0.507 NA 8 43 1.13e-05 1.44e-05 1 0 IFNAR2 3455 broad.mit.edu 37 21 34624976 34624976 + Missense_Mutation SNP G G A rs147789575 byFrequency TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr21:34624976G>A uc002yrd.2 + 7 878 c.550G>A c.(550-552)GAA>AAA p.E184K IFNAR2_uc002yrb.2_Missense_Mutation_p.E184K|IFNAR2_uc002yrc.2_Missense_Mutation_p.E184K|IFNAR2_uc002yre.2_Missense_Mutation_p.E184K|IFNAR2_uc002yrf.2_Missense_Mutation_p.E184K|IFNAR2_uc002yrg.2_Missense_Mutation_p.E53K|IL10RB_uc002yrh.1_Missense_Mutation_p.E34K|IL10RB_uc002yri.1_5'UTR NM_207585 NP_997468 P48551 INAR2_HUMAN interferon alpha/beta receptor 2 isoform a 184 Extracellular (Potential). JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway extracellular region|extracellular space|integral to plasma membrane protein kinase binding|type I interferon binding|type I interferon receptor activity 0 Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) GCATAAACCCGAAATAAAAGG 0.333 NA 12 25 0 0 0 0 PIK3IP1 113791 broad.mit.edu 37 22 31679217 31679217 + Silent SNP T T A rs145125391 TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr22:31679217T>A uc003akm.2 - 6 835 c.645A>T c.(643-645)CGA>CGT p.R215R PIK3IP1_uc003akl.2_RNA|PIK3IP1_uc011alo.1_3'UTR|PIK3IP1_uc003akn.2_Silent_p.R195R NM_052880 NP_443112 Q96FE7 P3IP1_HUMAN HGFL protein isoform 1 215 Cytoplasmic (Potential). integral to membrane ovary(1) 1 GCAGAGTGATTCGCTGCATCT 0.507 NA 15 71 0 0 0 0 LARGE 9215 broad.mit.edu 37 22 34157394 34157394 + Missense_Mutation SNP T T C TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr22:34157394T>C uc003and.3 - 3 649 c.70A>G c.(70-72)ATC>GTC p.I24V LARGE_uc003ane.3_Missense_Mutation_p.I24V|LARGE_uc010gwp.2_Missense_Mutation_p.I24V|LARGE_uc011ame.1_Intron|LARGE_uc011amf.1_Missense_Mutation_p.I24V NM_004737 NP_004728 O95461 LARGE_HUMAN like-glycosyltransferase 24 Helical; Signal-anchor for type II membrane protein; (Potential). glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(1;0.219) ATCCAGGTGATGGCTGGGATG 0.507 NA 24 100 0 0 0 0 PLXNB2 23654 broad.mit.edu 37 22 50727227 50727227 + Missense_Mutation SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr22:50727227C>T uc003bkv.3 - 5 1431 c.1325G>A c.(1324-1326)CGC>CAC p.R442H NM_012401 NP_036533 O15031 PLXB2_HUMAN plexin B2 precursor 442 Extracellular (Potential).|Sema. regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity ovary(4)|central_nervous_system(1)|skin(1) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TACCAGGTCGCGCTTGACTCT 0.607 NA 10 40 0 0 0 0 CNTN6 27255 broad.mit.edu 37 3 1367528 1367528 + Missense_Mutation SNP A A T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr3:1367528A>T uc003boz.2 + 9 1243 c.976A>T c.(976-978)AAT>TAT p.N326Y CNTN6_uc011asj.1_Missense_Mutation_p.N254Y|CNTN6_uc003bpa.2_Missense_Mutation_p.N326Y NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 326 Ig-like C2-type 4. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane skin(3)|lung(2)|breast(2)|pancreas(1) 8 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) GAAAATCCAAAATACACACCT 0.403 NA 11 40 0 0 0 0 CCR3 1232 broad.mit.edu 37 3 46307687 46307687 + Silent SNP A A T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr3:46307687A>T uc003cpg.1 + 4 1581 c.1038A>T c.(1036-1038)ACA>ACT p.T346T CCR3_uc003cpi.1_Silent_p.T346T|CCR3_uc003cpj.1_Silent_p.T346T|CCR3_uc003cpk.1_Silent_p.T367T|CCR3_uc010hjb.1_Silent_p.T364T|CCR3_uc003cpl.1_Silent_p.T379T NM_178329 NP_847899 P51677 CCR3_HUMAN CC chemokine receptor 3 isoform 1 346 Cytoplasmic (Potential). cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis integral to plasma membrane ovary(3)|lung(3)|breast(1)|kidney(1) 8 BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216) CTCCATCCACAGCAGAGCCGG 0.488 NA 14 28 0 0 0 0 TSC22D2 9819 broad.mit.edu 37 3 150128558 150128558 + Missense_Mutation SNP G G A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr3:150128558G>A uc003exv.2 + 1 1771 c.1421G>A c.(1420-1422)GGG>GAG p.G474E TSC22D2_uc003exw.2_RNA|TSC22D2_uc003exx.2_Missense_Mutation_p.G474E NM_014779 NP_055594 O75157 T22D2_HUMAN TSC22 domain family, member 2 474 sequence-specific DNA binding transcription factor activity ovary(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) GGTCCTGCCGGGGCTGGGCAG 0.726 NA 6 44 0 0 0 0 MED12L 116931 broad.mit.edu 37 3 151101967 151101967 + Missense_Mutation SNP G G T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr3:151101967G>T uc003eyp.2 + 33 4820 c.4782G>T c.(4780-4782)GAG>GAT p.E1594D MED12L_uc011bnz.1_Missense_Mutation_p.E1454D|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.E757D NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 1594 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GATCTGAAGAGAACAAGCGTG 0.378 NA 50 44 6.32e-29 8.74e-29 1 0 SI 6476 broad.mit.edu 37 3 164737435 164737435 + Silent SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr3:164737435C>T uc003fei.2 - 28 3440 c.3378G>A c.(3376-3378)CTG>CTA p.L1126L NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1126 Sucrase.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TATTCCAGTTCAGATCTCGCT 0.433 NA HNSCC(35;0.089) 38 158 0 0 0 0 SI 6476 broad.mit.edu 37 3 164777770 164777770 + Missense_Mutation SNP G G T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr3:164777770G>T uc003fei.2 - 10 1128 c.1066C>A c.(1066-1068)CAA>AAA p.Q356K NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 356 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CGACTTAGTTGGAATCCAAGA 0.363 NA HNSCC(35;0.089) 44 420 1.23e-20 1.68e-20 1 0 NAALADL2 254827 broad.mit.edu 37 3 175184818 175184818 + Missense_Mutation SNP G G A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr3:175184818G>A uc003fit.2 + 8 1466 c.1379G>A c.(1378-1380)GGA>GAA p.G460E NAALADL2_uc003fiu.1_Missense_Mutation_p.G453E|NAALADL2_uc010hwy.1_Missense_Mutation_p.G234E|NAALADL2_uc010hwz.1_Missense_Mutation_p.G54E NM_207015 NP_996898 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 460 Extracellular (Potential). proteolysis integral to membrane peptidase activity pancreas(1) 1 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) AGTTATAATGGACAAGAATGG 0.408 NA 7 555 0 0 0 0 ZNF639 51193 broad.mit.edu 37 3 179051488 179051488 + Missense_Mutation SNP A A G TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr3:179051488A>G uc003fjq.1 + 6 1079 c.736A>G c.(736-738)ATG>GTG p.M246V ZNF639_uc003fjr.1_Missense_Mutation_p.M246V NM_016331 NP_057415 Q9UID6 ZN639_HUMAN zinc finger protein 639 246 C2H2-type 2. initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent nucleus protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding 0 all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923) CTCTACCAATATGCTTCTGAT 0.368 NA 46 124 0 0 0 0 MFN1 55669 broad.mit.edu 37 3 179082965 179082965 + Silent SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr3:179082965C>T uc003fjs.2 + 7 831 c.705C>T c.(703-705)CTC>CTT p.L235L MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Silent_p.L263L|MFN1_uc010hxc.2_Silent_p.L88L NM_033540 NP_284941 Q8IWA4 MFN1_HUMAN mitofusin 1 235 Cytoplasmic (Potential). mitochondrial fusion integral to membrane|mitochondrial outer membrane GTP binding|GTPase activity ovary(2)|large_intestine(1) 3 all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923) TTTTCATTCTCAATAATCGTT 0.338 NA 10 164 0 0 0 0 MUC4 4585 broad.mit.edu 37 3 195505836 195505836 + Missense_Mutation SNP G G C TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr3:195505836G>C uc011bto.1 - 3 12691 c.12231C>G c.(12229-12231)CAC>CAG p.H4077Q MUC4_uc003fva.2_5'Flank|MUC4_uc003fvb.2_5'Flank|MUC4_uc003fvc.2_5'Flank|MUC4_uc003fvd.2_5'Flank|MUC4_uc003fve.2_5'Flank|MUC4_uc010hzr.2_5'Flank|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGGGTGGCGTGACCTGTGG 0.597 NA 4 13 0 0 0 0 MUC4 4585 broad.mit.edu 37 3 195511959 195511959 + Silent SNP G G A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr3:195511959G>A uc011bto.1 - 2 6952 c.6492C>T c.(6490-6492)ACC>ACT p.T2164T MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 45 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) AGGAAGTGTCGGTGACAGGAA 0.577 NA 3 13 0 0 0 0 UBA6 55236 broad.mit.edu 37 4 68499067 68499067 + Missense_Mutation SNP T T C TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr4:68499067T>C uc003hdg.3 - 23 2190 c.2138A>G c.(2137-2139)CAT>CGT p.H713R NM_018227 NP_060697 A0AVT1 UBA6_HUMAN ubiquitin-activating enzyme E1-like 2 713 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding 0 ACTTACCTTATGGTTAAAATA 0.303 NA 21 58 0 0 0 0 ODAM 54959 broad.mit.edu 37 4 71063726 71063726 + Missense_Mutation SNP C C A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr4:71063726C>A uc003hfc.2 + 4 244 c.227C>A c.(226-228)TCT>TAT p.S76Y NM_017855 NP_060325 A1E959 ODAM_HUMAN odontogenic ameloblast-associated protein 76 Gln-rich. biomineral tissue development|odontogenesis of dentine-containing tooth fibril ovary(3)|large_intestine(1) 4 TCCCAGTTCTCTTTATCAGCT 0.478 NA 52 141 2.49e-17 3.4e-17 1 0 GRID2 2895 broad.mit.edu 37 4 94411922 94411922 + Missense_Mutation SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr4:94411922C>T uc011cdt.1 + 12 2249 c.1991C>T c.(1990-1992)TCC>TTC p.S664F GRID2_uc011cdu.1_Missense_Mutation_p.S569F NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 664 Extracellular (Potential). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(3)|skin(2)|large_intestine(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) ATTGAAAGTTCCATCCAGTAA 0.393 NA 13 45 0 0 0 0 USP53 54532 broad.mit.edu 37 4 120177469 120177469 + Silent SNP A A G TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr4:120177469A>G uc003ics.3 + 7 1507 c.441A>G c.(439-441)AAA>AAG p.K147K USP53_uc003icr.3_Silent_p.K147K|USP53_uc003icu.3_5'UTR NM_019050 NP_061923 Q70EK8 UBP53_HUMAN ubiquitin specific protease 53 147 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity ovary(1)|breast(1)|kidney(1)|skin(1) 4 GTACCTCTAAATCTTGTATCA 0.323 NA 5 8 0 0 0 0 ASB5 140458 broad.mit.edu 37 4 177143474 177143474 + Missense_Mutation SNP G G C TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr4:177143474G>C uc003iuq.1 - 3 390 c.374C>G c.(373-375)GCA>GGA p.A125G ASB5_uc003iup.1_Missense_Mutation_p.A72G NM_080874 NP_543150 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box-containing protein 125 ANK 2. intracellular signal transduction skin(2) 2 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) ATTAGCTCCTGCTTCCAGCAG 0.418 NA 6 48 0 0 0 0 FAT1 2195 broad.mit.edu 37 4 187557927 187557927 + Nonsense_Mutation SNP G G A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr4:187557927G>A uc003izf.2 - 5 3972 c.3784C>T c.(3784-3786)CGA>TGA p.R1262* NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 1262 Extracellular (Potential).|Cadherin 11. 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 TTTCTTTCTCGGTCTGGCTTT 0.478 NA HNSCC(5;0.00058) 119 168 0 0 0 0 MRPS30 10884 broad.mit.edu 37 5 44813292 44813292 + Missense_Mutation SNP G G A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr5:44813292G>A uc003joh.2 + 4 976 c.938G>A c.(937-939)AGA>AAA p.R313K NM_016640 NP_057724 Q9NP92 RT30_HUMAN mitochondrial ribosomal protein S30 313 apoptosis|translation mitochondrion|ribosome structural constituent of ribosome 0 Lung NSC(6;8.08e-07) AGGCTTTTGAGACAAAACTGT 0.393 NA 4 42 0 0 0 0 RPS23 6228 broad.mit.edu 37 5 81571952 81571953 + Missense_Mutation DNP GC GC AT TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr5:81571952_81571953GC>AT uc003khu.2 - 4 500_501 c.407_408GC>AT c.(406-408)GGC>GAT p.G136D NM_001025 NP_001016 P62266 RS23_HUMAN ribosomal protein S23 136 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|structural constituent of ribosome 0 Lung NSC(167;0.0025)|all_lung(232;0.00278)|Ovarian(174;0.0336) OV - Ovarian serous cystadenocarcinoma(54;1.94e-42)|Epithelial(54;8.38e-37)|all cancers(79;1.42e-31) TTTCCTTCTTGCCTTTGTATAG 0.381 NA 8 67 0 0 0 0 PCDHA13 56136 broad.mit.edu 37 5 140263131 140263131 + Silent SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr5:140263131C>T uc003lif.2 + 1 1278 c.1278C>T c.(1276-1278)ACC>ACT p.T426T PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.T426T|PCDHA13_uc003lid.2_Silent_p.T426T NM_018904 NP_061727 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 isoform 1 precursor 426 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGTGGTGACCGCGCGGGACG 0.657 NA 34 157 0 0 0 0 TCERG1 10915 broad.mit.edu 37 5 145836812 145836812 + Missense_Mutation SNP G G A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr5:145836812G>A uc003lob.2 + 3 392 c.352G>A c.(352-354)GGA>AGA p.G118R TCERG1_uc003loc.2_Missense_Mutation_p.G118R|TCERG1_uc011dbt.1_Missense_Mutation_p.G118R NM_006706 NP_006697 O14776 TCRG1_HUMAN transcription elongation regulator 1 isoform 1 118 Pro-rich. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity ovary(1)|skin(1) 2 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GTTTCCACCAGGAATGCCTCC 0.453 NA 18 81 0 0 0 0 ADAM19 8728 broad.mit.edu 37 5 156934146 156934146 + Missense_Mutation SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr5:156934146C>T uc003lwz.2 - 10 972 c.908G>A c.(907-909)GGC>GAC p.G303D ADAM19_uc003lww.1_Missense_Mutation_p.G36D|ADAM19_uc011ddr.1_Missense_Mutation_p.G234D NM_033274 NP_150377 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 preproprotein 303 Peptidase M12B.|Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GAAGGACATGCCCCTGCAGGA 0.622 NA 4 75 0 0 0 0 C5orf41 153222 broad.mit.edu 37 5 172517748 172517748 + Missense_Mutation SNP A A G TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr5:172517748A>G uc003mch.2 + 4 870 c.566A>G c.(565-567)AAG>AGG p.K189R C5orf41_uc003mcg.2_Missense_Mutation_p.K189R|C5orf41_uc003mcf.2_Missense_Mutation_p.K189R|C5orf41_uc011dfd.1_Missense_Mutation_p.K189R NM_153607 NP_705835 Q8IUR6 CE041_HUMAN luman-recruiting factor 189 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TGTTCTTCTAAGACTCTGCAG 0.438 NA 8 26 0 0 0 0 MAPK9 5601 broad.mit.edu 37 5 179669687 179669687 + Missense_Mutation SNP G G T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr5:179669687G>T uc003mls.3 - 8 1028 c.757C>A c.(757-759)CAG>AAG p.Q253K MAPK9_uc003mlt.3_Missense_Mutation_p.Q253K|MAPK9_uc010jlc.2_Missense_Mutation_p.Q253K|MAPK9_uc003mlv.3_Missense_Mutation_p.Q253K NM_002752 NP_002743 P45984 MK09_HUMAN mitogen-activated protein kinase 9 isoform JNK2 253 Protein kinase. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|JUN kinase activity|protein binding|protein binding central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1) 4 all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACAGTTGGCTGAAGTTTCTTC 0.388 NA 5 46 1.24e-05 1.57e-05 1 0 DSP 1832 broad.mit.edu 37 6 7585963 7585963 + Missense_Mutation SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr6:7585963C>T uc003mxp.1 + 24 8747 c.8468C>T c.(8467-8469)CCG>CTG p.P2823L DSP_uc003mxq.1_Missense_Mutation_p.P2224L NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 2823 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TCTTCGGCTCCGGGGtcccgc 0.428 NA 5 120 0 0 0 0 EEF1E1 9521 broad.mit.edu 37 6 8102741 8102742 + Missense_Mutation DNP GC GC AA TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr6:8102741_8102742GC>AA uc003mxz.2 - 1 87_88 c.13_14GC>TT c.(13-15)GCA>TTA p.A5L EEF1E1_uc011dic.1_Missense_Mutation_p.A5L NM_004280 NP_004271 O43324 MCA3_HUMAN eukaryotic translation elongation factor 1 5 negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation cytosol|nucleus 0 Ovarian(93;0.0398) CGACAACTCTGCGGCCGCCGCC 0.604 NA 6 47 0 0 0 0 HSP90AB1 3326 broad.mit.edu 37 6 44217786 44217786 + Silent SNP G G A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr6:44217786G>A uc003oxa.1 + 5 627 c.543G>A c.(541-543)GTG>GTA p.V181V HSP90AB1_uc011dvr.1_Silent_p.V171V|HSP90AB1_uc003oxb.1_Silent_p.V181V|HSP90AB1_uc011dvs.1_Missense_Mutation_p.M1I|HSP90AB1_uc003oxc.1_5'UTR NM_007355 NP_031381 P08238 HS90B_HUMAN heat shock 90kDa protein 1, beta 181 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding lung(3)|breast(1) 4 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GTACCAAAGTGATCCTCCATC 0.438 NA 23 78 0 0 0 0 CD2AP 23607 broad.mit.edu 37 6 47563619 47563619 + Silent SNP G G A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr6:47563619G>A uc003oyw.2 + 12 1587 c.1131G>A c.(1129-1131)CAG>CAA p.Q377Q NM_012120 NP_036252 Q9Y5K6 CD2AP_HUMAN CD2-associated protein 377 Pro-rich. cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle SH3 domain binding|structural constituent of cytoskeleton ovary(1)|skin(1) 2 Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138) CACTGGAACAGAAACCTTCTA 0.353 NA 25 190 0 0 0 0 TFAP2B 7021 broad.mit.edu 37 6 50810853 50810853 + Silent SNP G G A rs140849621 TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr6:50810853G>A uc003pag.2 + 7 1297 c.1131G>A c.(1129-1131)CCG>CCA p.P377P NM_003221 NP_003212 Q92481 AP2B_HUMAN transcription factor AP-2 beta 377 QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047). nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity 0 Lung NSC(77;0.156) ACCGGACACCGATAGGGAACA 0.592 NA 60 142 0 0 0 0 TBL2 26608 broad.mit.edu 37 7 72987687 72987687 + Silent SNP G G A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr7:72987687G>A uc003tyh.2 - 4 695 c.561C>T c.(559-561)CAC>CAT p.H187H TBL2_uc011kex.1_Silent_p.H151H|TBL2_uc010lbg.2_Silent_p.H92H|TBL2_uc003tyi.2_Silent_p.H22H|TBL2_uc011key.1_Silent_p.H58H|TBL2_uc010lbh.2_Silent_p.H92H NM_012453 NP_036585 Q9Y4P3 TBL2_HUMAN transducin (beta)-like 2 187 WD 3. 0 Lung NSC(55;0.0659)|all_lung(88;0.152) CAGGCGCCTTGTGCTTTTTAG 0.557 NA 28 134 0 0 0 0 STEAP4 79689 broad.mit.edu 37 7 87913481 87913481 + Missense_Mutation SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr7:87913481C>T uc003ujs.2 - 2 209 c.104G>A c.(103-105)GGA>GAA p.G35E STEAP4_uc010lek.2_Missense_Mutation_p.G35E|STEAP4_uc003ujt.2_Missense_Mutation_p.G35E NM_024636 NP_078912 Q687X5 STEA4_HUMAN tumor necrosis factor, alpha-induced protein 9 35 fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity 0 Esophageal squamous(14;0.00802) CATTTTCAATCCCAGTGATCT 0.413 NA 10 100 0 0 0 0 SRRT 51593 broad.mit.edu 37 7 100484783 100484783 + Missense_Mutation SNP G G A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr7:100484783G>A uc003uwy.2 + 16 2205 c.1937G>A c.(1936-1938)CGG>CAG p.R646Q SRRT_uc010lhl.1_Missense_Mutation_p.R645Q|SRRT_uc003uxa.2_Missense_Mutation_p.R645Q|SRRT_uc003uwz.2_Missense_Mutation_p.R646Q NM_015908 NP_056992 Q9BXP5 SRRT_HUMAN arsenate resistance protein 2 isoform a 646 cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding ovary(2) 2 ATCCACGTTCGGGGGCCCATG 0.602 NA 26 184 0 0 0 0 GPR37 2861 broad.mit.edu 37 7 124404598 124404598 + Missense_Mutation SNP A A T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr7:124404598A>T uc003vli.2 - 1 1084 c.433T>A c.(433-435)TTC>ATC p.F145I NM_005302 NP_005293 O15354 GPR37_HUMAN G protein-coupled receptor 37 precursor 145 Extracellular (Potential). endoplasmic reticulum membrane|integral to plasma membrane G-protein coupled receptor activity ovary(1)|lung(1)|central_nervous_system(1) 3 ATCTGAAGGAAGAGCTGGAGG 0.627 NA 17 154 0 0 0 0 TRIM24 8805 broad.mit.edu 37 7 138239468 138239469 + Missense_Mutation DNP GA GA TT TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr7:138239468_138239469GA>TT uc003vuc.2 + 9 1502_1503 c.1287_1288GA>TT c.(1285-1290)GAGAGC>GATTGC p.429_430ES>DC TRIM24_uc003vub.2_Missense_Mutation_p.429_430ES>DC NM_015905 NP_056989 O15164 TIF1A_HUMAN transcriptional intermediary factor 1 alpha 429_430 cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter cytoplasm chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1) 8 AGGATAAAGAGAGCCAGCCACA 0.371 NA 10 113 0 0 0 0 SORBS3 10174 broad.mit.edu 37 8 22429318 22429318 + Nonsense_Mutation SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr8:22429318C>T uc003xbv.2 + 19 2171 c.1831C>T c.(1831-1833)CAG>TAG p.Q611* SORBS3_uc003xbw.3_Nonsense_Mutation_p.Q269* NM_005775 NP_005766 O60504 VINEX_HUMAN sorbin and SH3 domain containing 3 isoform 1 611 muscle contraction|positive regulation of stress fiber assembly cytoskeleton|cytosol|nucleus protein binding|structural constituent of cytoskeleton|vinculin binding 0 Prostate(55;0.0421)|Breast(100;0.102) BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061) TAACACCTCTCAGATACACTG 0.607 NA 12 77 0 0 0 0 POTEA 340441 broad.mit.edu 37 8 43157231 43157231 + Missense_Mutation SNP G G C TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr8:43157231G>C uc003xpz.1 + 5 854 c.811G>C c.(811-813)GCA>CCA p.A271P POTEA_uc003xqa.1_Intron NM_001005365 NP_001005365 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A isoform 2 271 ovary(1) 1 TGAAGATTATGCAGTTTCTAG 0.294 NA 14 52 0 0 0 0 SNX16 64089 broad.mit.edu 37 8 82713776 82713776 + Missense_Mutation SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr8:82713776C>T uc011lft.1 - 9 1498 c.991G>A c.(991-993)GAG>AAG p.E331K SNX16_uc003ycn.2_Missense_Mutation_p.E331K|SNX16_uc003yco.2_Missense_Mutation_p.E302K NM_022133 NP_071416 P57768 SNX16_HUMAN sorting nexin 16 isoform a 331 cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome identical protein binding|phosphatidylinositol binding ovary(1)|pancreas(1) 2 ACTTCTATCTCTGATACAGCA 0.353 NA 5 107 0 0 0 0 KCNV1 27012 broad.mit.edu 37 8 110980374 110980374 + Silent SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr8:110980374C>T uc003ynr.3 - 3 1788 c.1446G>A c.(1444-1446)CTG>CTA p.L482L KCNV1_uc010mcw.2_Silent_p.L482L NM_014379 NP_055194 Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 482 Cytoplasmic (Potential). voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity lung(1)|kidney(1) 2 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) CTCTGCCTTTCAGTCGCAGCA 0.388 NA 10 35 0 0 0 0 SPTLC1 10558 broad.mit.edu 37 9 94794749 94794749 + Nonstop_Mutation SNP A A G TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr9:94794749A>G uc004arl.1 - 15 1458 c.1420T>C c.(1420-1422)TAG>CAG p.*474Q SPTLC1_uc011ltv.1_Missense_Mutation_p.L463P NM_006415 NP_006406 O15269 SPTC1_HUMAN serine palmitoyltransferase subunit 1 isoform a 474 integral to membrane|SPOTS complex protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups ovary(1)|breast(1) 2 L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) GACTCTGCCTAGAGCAGGACG 0.582 NA 11 45 0 0 0 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112898859 112898859 + Silent SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr9:112898859C>T uc004bei.2 + 9 1923 c.1731C>T c.(1729-1731)CAC>CAT p.H577H PALM2-AKAP2_uc004bek.3_Silent_p.H345H|PALM2-AKAP2_uc004bej.3_Silent_p.H345H|PALM2-AKAP2_uc004bel.1_Silent_p.H155H|AKAP2_uc011lwi.1_Silent_p.H203H|AKAP2_uc004bem.2_Silent_p.H203H|PALM2-AKAP2_uc010mtw.1_Silent_p.H163H|AKAP2_uc011lwj.1_Silent_p.H114H|PALM2-AKAP2_uc004ben.2_Silent_p.H114H NM_001136562 NP_001130034 Q9Y2D5 AKAP2_HUMAN A kinase (PRKA) anchor protein 2 isoform 2 114 enzyme binding ovary(3)|central_nervous_system(2)|skin(1) 6 CACCTCCTCACATCGAGCTCA 0.622 NA 9 62 0 0 0 0 NOTCH1 4851 broad.mit.edu 37 9 139407980 139407980 + Nonsense_Mutation SNP G G T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr9:139407980G>T uc004chz.2 - 14 2217 c.2217C>A c.(2215-2217)TGC>TGA p.C739* NOTCH1_uc004cia.1_5'UTR NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 739 Extracellular (Potential).|EGF-like 19; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GGTCACAGTCGCACTTGTACC 0.612 NA T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 16 9 3.41e-10 4.55e-10 1 0 TBX22 50945 broad.mit.edu 37 X 79286052 79286052 + Missense_Mutation SNP G G T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chrX:79286052G>T uc010nmg.1 + 9 1139 c.1005G>T c.(1003-1005)TTG>TTT p.L335F TBX22_uc004edi.1_Missense_Mutation_p.L215F|TBX22_uc004edj.1_Missense_Mutation_p.L335F NM_001109878 NP_001103348 Q9Y458 TBX22_HUMAN T-box 22 isoform 1 335 multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1) 15 CCTCTCCTTTGAACTCCTTAC 0.473 NA 34 43 1.02e-06 1.32e-06 1 0 NXF5 55998 broad.mit.edu 37 X 101092616 101092616 + Silent SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chrX:101092616C>T uc011mrk.1 - 15 1290 c.930G>A c.(928-930)AGG>AGA p.R310R NXF5_uc004eih.1_RNA|NXF5_uc004eii.1_RNA|NXF5_uc004eij.1_RNA|NXF5_uc004eik.1_RNA|NXF5_uc004eil.1_RNA NM_032946 NP_116564 Q9H1B4 NXF5_HUMAN nuclear RNA export factor 5 310 NTF2; truncated. mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nucleus nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding central_nervous_system(1) 1 TTAGCAGCTTCCTCTGCAGGT 0.527 NA 5 72 0 0 0 0 CTTN 2017 broad.mit.edu 37 11 70275169 70275178 + Frame_Shift_Del DEL CAAGTAACAT CAAGTAACAT - TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr11:70275169_70275178delCAAGTAACAT uc001opv.3 + 14 1246_1255 c.1040_1049delCAAGTAACAT c.(1039-1050)ACAAGTAACATCfs p.T347fs CTTN_uc001opu.2_Frame_Shift_Del_p.T310fs|CTTN_uc001opw.3_Frame_Shift_Del_p.T310fs|CTTN_uc010rqm.1_Frame_Shift_Del_p.T31fs|CTTN_uc001opx.2_Frame_Shift_Del_p.T31fs NM_005231 NP_005222 Q14247 SRC8_HUMAN cortactin isoform a 347_350 cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513) Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133) ACCAGCAAAACAAGTAACATCAGAGCTAAC 0.567 NA 18 1368 --- --- --- --- NA NA NA NA FSD2 123722 broad.mit.edu 37 15 83434772 83434772 + Frame_Shift_Del DEL C C - TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr15:83434772delC uc002bjd.2 - 10 1732 c.1565delG c.(1564-1566)GGCfs p.G522fs FSD2_uc010uol.1_Frame_Shift_Del_p.G477fs|FSD2_uc010uom.1_Frame_Shift_Del_p.G477fs NM_001007122 NP_001007123 A1L4K1 FSD2_HUMAN fibronectin type III and SPRY domain containing 522 Fibronectin type-III 2. central_nervous_system(1) 1 GGTCGGGATGCCCACAACAGA 0.597 NA 2 4 --- --- --- --- NA NA NA NA TP53 7157 broad.mit.edu 37 17 7577516 7577517 + Frame_Shift_Ins INS - - A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr17:7577516_7577517insA uc002gim.2 - 7 958_959 c.764_765insT c.(763-765)ATCfs p.I255fs TP53_uc002gig.1_Frame_Shift_Ins_p.I255fs|TP53_uc002gih.2_Frame_Shift_Ins_p.I255fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Ins_p.I123fs|TP53_uc010cng.1_Frame_Shift_Ins_p.I123fs|TP53_uc002gii.1_Frame_Shift_Ins_p.I123fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.I255fs|TP53_uc010cni.1_Frame_Shift_Ins_p.I255fs|TP53_uc002gij.2_Frame_Shift_Ins_p.I255fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Ins_p.I162fs|TP53_uc002gio.2_Frame_Shift_Ins_p.I123fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 255 |Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). I -> T (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> M (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> F (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.I255F(16)|p.0?(7)|p.I255del(7)|p.I255S(7)|p.I255N(7)|p.I255T(7)|p.I255fs*90(4)|p.I255fs*9(3)|p.I255V(3)|p.T253_I255del(2)|p.I255I(2)|p.I255fs*8(1)|p.?(1)|p.T256fs*8(1)|p.I254fs*7(1)|p.I255M(1)|p.R249_T256delRPILTIIT(1)|p.T256fs*17(1)|p.I254_T256del(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CTTCCAGTGTGATGATGGTGAG 0.584 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 38 63 --- --- --- --- NA NA NA NA MFAP4 4239 broad.mit.edu 37 17 19290122 19290123 + In_Frame_Ins INS - - AGC TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr17:19290122_19290123insAGC uc002gvt.2 - 2 60_61 c.35_36insGCT c.(34-36)CTT>CTGCTT p.12_12L>LL MFAP4_uc002gvr.2_RNA|MFAP4_uc002gvs.2_In_Frame_Ins_p.36_36L>LL NM_002404 NP_002395 P55083 MFAP4_HUMAN microfibrillar-associated protein 4 precursor 12 cell adhesion|signal transduction microfibril receptor binding 0 all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206) GCGTGGAGAGAAGCAGCAGCAG 0.649 NA 3 5 --- --- --- --- NA NA NA NA ATR 545 broad.mit.edu 37 3 142176524 142176524 + Frame_Shift_Del DEL A A - TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr3:142176524delA uc003eux.3 - 45 7699 c.7577delT c.(7576-7578)ATGfs p.M2526fs ATR_uc003euy.1_Frame_Shift_Del_p.M412fs NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 2526 PI3K/PI4K. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 CTCTGTTCCCATAGGACCCAT 0.388 NA Other_conserved_DNA_damage_response_genes 10 108 --- --- --- --- NA NA NA NA SMC4 10051 broad.mit.edu 37 3 160150162 160150162 + Frame_Shift_Del DEL A A - TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr3:160150162delA uc003fdh.2 + 22 3502 c.3389delA c.(3388-3390)CAAfs p.Q1130fs IFT80_uc003fda.2_Intron|SMC4_uc003fdi.2_Frame_Shift_Del_p.Q1105fs|SMC4_uc003fdj.2_Frame_Shift_Del_p.Q1130fs|SMC4_uc010hwd.2_Frame_Shift_Del_p.Q1072fs|SMC4_uc003fdl.2_Frame_Shift_Del_p.Q833fs NM_001002800 NP_001002800 Q9NTJ3 SMC4_HUMAN SMC4 structural maintenance of chromosomes 1130 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity ovary(1)|breast(1) 2 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) CTTCGGAAACAAAGGCTTAAT 0.348 NA 29 55 --- --- --- --- NA NA NA NA SEMA5A 9037 broad.mit.edu 37 5 9054270 9054270 + Frame_Shift_Del DEL G G - TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr5:9054270delG uc003jek.2 - 19 3330 c.2618delC c.(2617-2619)CCGfs p.P873fs NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 873 TSP type-1 6.|Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 TCCATAGGCCGGGGCTGGATT 0.607 NA 10 66 --- --- --- --- NA NA NA NA