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 PLEKHO1 51177 broad.mit.edu 37 1 150131552 150131552 + Missense_Mutation SNP C T T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr1:150131552C>T uc001ett.2 + 6 1342 c.1064C>T c.(1063-1065)ACG>ATG p.T355M PLEKHO1_uc001etr.2_Missense_Mutation_p.T183M|PLEKHO1_uc001ets.2_Missense_Mutation_p.T172M|PLEKHO1_uc001etu.2_Missense_Mutation_p.T183M NM_016274 NP_057358 Q53GL0 PKHO1_HUMAN pleckstrin homology domain containing, family O 355 Negative regulator of AP-1 activity. cytoplasm|nucleus|plasma membrane lung(1) 1 Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) CTGCTGGAGACGGAACGGCTG 0.607 TCHH 7062 broad.mit.edu 37 1 152083688 152083688 + Missense_Mutation SNP C G G TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr1:152083688C>G uc001ezp.2 - 2 2005 c.2005G>C c.(2005-2007)GAG>CAG p.E669Q TCHH_uc009wne.1_Missense_Mutation_p.E669Q NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 669 9 X 28 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGCCGCTGCTCGAGCCTCTCT 0.662 NUP210L 91181 broad.mit.edu 37 1 154110601 154110601 + Missense_Mutation SNP C A A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr1:154110601C>A uc001fdw.2 - 6 903 c.831G>T c.(829-831)ATG>ATT p.M277I NUP210L_uc009woq.2_5'Flank|NUP210L_uc010peh.1_Missense_Mutation_p.M277I NM_207308 NP_997191 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like isoform 1 277 integral to membrane skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) TCCCTTGAACCATTTTTGCAA 0.343 SPTA1 6708 broad.mit.edu 37 1 158626393 158626393 + Missense_Mutation SNP G C C TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr1:158626393G>C uc001fst.1 - 20 3058 c.2859C>G c.(2857-2859)GAC>GAG p.D953E NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 953 Spectrin 10. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) CTTTCATACTGTCTCCAAATG 0.413 SPTA1 6708 broad.mit.edu 37 1 158632602 158632602 + Missense_Mutation SNP C T T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr1:158632602C>T uc001fst.1 - 17 2553 c.2354G>A c.(2353-2355)CGA>CAA p.R785Q NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 785 Spectrin 8. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) CTTCTTCTTTCGGGTGGCCAG 0.478 LAMB3 3914 broad.mit.edu 37 1 209804029 209804029 + Missense_Mutation SNP G A A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr1:209804029G>A uc001hhg.2 - 8 1264 c.874C>T c.(874-876)CGC>TGC p.R292C LAMB3_uc009xco.2_Missense_Mutation_p.R292C|LAMB3_uc001hhh.2_Missense_Mutation_p.R292C|LAMB3_uc010psl.1_RNA|LAMB3_uc009xcp.1_Missense_Mutation_p.R228C NM_001017402 NP_001017402 Q13751 LAMB3_HUMAN laminin, beta 3 precursor 292 Laminin EGF-like 1. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0519) GGTGCACAGCGCTCACAATTT 0.597 SIPA1L2 57568 broad.mit.edu 37 1 232615447 232615447 + Missense_Mutation SNP T C C TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr1:232615447T>C uc001hvg.2 - 5 2169 c.2011A>G c.(2011-2013)ACC>GCC p.T671A NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 671 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) TTGTATGTGGTATAGAGAGAG 0.448 KIAA1804 84451 broad.mit.edu 37 1 233515030 233515030 + Nonsense_Mutation SNP C T T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr1:233515030C>T uc001hvt.3 + 9 2539 c.2278C>T c.(2278-2280)CGA>TGA p.R760* KIAA1804_uc001hvu.3_Nonsense_Mutation_p.R206* NM_032435 NP_115811 Q5TCX8 M3KL4_HUMAN mixed lineage kinase 4 760 activation of JUN kinase activity|protein autophosphorylation ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity lung(5)|central_nervous_system(2)|skin(1) 8 all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122) GAAGAAGAAACGAGAGGGAAT 0.602 OR2M4 26245 broad.mit.edu 37 1 248402638 248402638 + Missense_Mutation SNP G T T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr1:248402638G>T uc010pzh.1 + 1 408 c.408G>T c.(406-408)ATG>ATT p.M136I NM_017504 NP_059974 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, 136 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2) 2 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CCATCCTCATGAATCCGAAAC 0.473 CALML5 51806 broad.mit.edu 37 10 5540984 5540984 + Missense_Mutation SNP C T T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr10:5540984C>T uc001iic.2 - 1 550 c.418G>A c.(418-420)GCG>ACG p.A140T NM_017422 NP_059118 Q9NZT1 CALL5_HUMAN calmodulin-like 5 140 EF-hand 4. epidermis development|signal transduction calcium ion binding|protein binding 0 AGCATCCTCGCGAACTCCTCG 0.701 SLK 9748 broad.mit.edu 37 10 105752828 105752828 + Missense_Mutation SNP A G G TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr10:105752828A>G uc001kxo.1 + 4 485 c.451A>G c.(451-453)ATC>GTC p.I151V SLK_uc001kxp.1_Missense_Mutation_p.I151V NM_014720 NP_055535 Q9H2G2 SLK_HUMAN serine/threonine kinase 2 151 Protein kinase. apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) TGATAATAAGATCATCCACAG 0.333 IFITM1 8519 broad.mit.edu 37 11 314342 314342 + Missense_Mutation SNP G A A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr11:314342G>A uc001loy.3 + 1 352 c.172G>A c.(172-174)GCC>ACC p.A58T NM_003641 NP_003632 P13164 IFM1_HUMAN interferon induced transmembrane protein 1 58 Cytoplasmic (Potential). negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway integral to membrane|plasma membrane protein binding|receptor signaling protein activity 0 all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) CATAGCATTCGCCTACTCCGT 0.612 SYT9 143425 broad.mit.edu 37 11 7334771 7334771 + Missense_Mutation SNP C T T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr11:7334771C>T uc001mfe.2 + 3 880 c.643C>T c.(643-645)CGG>TGG p.R215W SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_Intron NM_175733 NP_783860 Q86SS6 SYT9_HUMAN synaptotagmin IX 215 Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(2)|large_intestine(1) 3 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) TGACGGGAGACGGAGTAACAG 0.398 OR5J2 282775 broad.mit.edu 37 11 55944236 55944236 + Nonsense_Mutation SNP T A A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr11:55944236T>A uc010rjb.1 + 1 143 c.143T>A c.(142-144)TTA>TAA p.L48* NM_001005492 NP_001005492 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, 48 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|large_intestine(1)|breast(1)|pancreas(1) 4 Esophageal squamous(21;0.00693) ATGATCCTCTTAATCCAAATC 0.428 POLA2 23649 broad.mit.edu 37 11 65048610 65048610 + Missense_Mutation SNP C A A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr11:65048610C>A uc001odj.2 + 8 1234 c.892C>A c.(892-894)CCT>ACT p.P298T POLA2_uc010rod.1_Missense_Mutation_p.P90T|POLA2_uc001odk.2_5'UTR NM_002689 NP_002680 Q14181 DPOA2_HUMAN DNA-directed DNA polymerase alpha 2 298 DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication nucleoplasm DNA binding 0 Dacarbazine(DB00851) TTCTCTGTTTCCTGGACAGGT 0.512 OR10G7 390265 broad.mit.edu 37 11 123909464 123909464 + Missense_Mutation SNP G A A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr11:123909464G>A uc001pzq.1 - 1 245 c.245C>T c.(244-246)ACC>ATC p.T82I NM_001004463 NP_001004463 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, 82 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 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;0.0521) GGACACCAAGGTCATCAGCAT 0.532 IQSEC3 440073 broad.mit.edu 37 12 248252 248254 + In_Frame_Del DEL GAG - - TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr12:248252_248254delGAG uc001qhw.1 + 1 820_822 c.814_816delGAG c.(814-816)GAGdel p.E276del IQSEC3_uc001qhu.1_In_Frame_Del_p.E276del|IQSEC3_uc001qht.1_In_Frame_Del_p.E361del|uc001qhv.1_Intron NM_015232 NP_056047 Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 579 Poly-Glu. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|large_intestine(1)|skin(1) 4 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) Agaggaggaagaggaggaggagg 0.586 C3AR1 719 broad.mit.edu 37 12 8211864 8211864 + Silent SNP G A A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr12:8211864G>A uc001qtv.1 - 2 1010 c.918C>T c.(916-918)TAC>TAT p.Y306Y NM_004054 NP_004045 Q16581 C3AR_HUMAN complement component 3a receptor 1 306 Extracellular (Potential). blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response integral to plasma membrane C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity ovary(1) 1 Kidney(36;0.0893) GCTCAGACTCGTAGAAGGAAT 0.438 C12orf51 283450 broad.mit.edu 37 12 112622744 112622744 + Silent SNP G A A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr12:112622744G>A uc009zwc.2 - 54 8778 c.8760C>T c.(8758-8760)AGC>AGT p.S2920S NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 TGCCTCCGATGCTGAGCACGG 0.627 DDX54 79039 broad.mit.edu 37 12 113600992 113600992 + Silent SNP G T T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr12:113600992G>T uc001tup.2 - 16 2054 c.2026C>A c.(2026-2028)CGG>AGG p.R676R DDX54_uc001tuq.3_Silent_p.R676R NM_024072 NP_076977 Q8TDD1 DDX54_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 676 estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nucleolus ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity skin(2)|central_nervous_system(1) 3 TCCTGGTCCCGCTGCCGGGCC 0.667 LTBP2 4053 broad.mit.edu 37 14 74991895 74991895 + Missense_Mutation SNP C G G TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr14:74991895C>G uc001xqa.2 - 15 2849 c.2462G>C c.(2461-2463)GGG>GCG p.G821A NM_000428 NP_000419 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding 821 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding liver(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) CTCTGCAATCCCCTGTTCAGG 0.612 LTBP2 4053 broad.mit.edu 37 14 74991927 74991927 + Silent SNP C G G TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr14:74991927C>G uc001xqa.2 - 15 2817 c.2430G>C c.(2428-2430)GGG>GGC p.G810G NM_000428 NP_000419 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding 810 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding liver(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) TTGTGGCATTCCCTGTGGAGG 0.597 STON2 85439 broad.mit.edu 37 14 81744671 81744671 + Missense_Mutation SNP G C C TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr14:81744671G>C uc010tvu.1 - 4 1185 c.984C>G c.(982-984)ATC>ATG p.I328M STON2_uc001xvk.1_Missense_Mutation_p.I328M|STON2_uc010tvt.1_Missense_Mutation_p.I125M NM_033104 NP_149095 Q8WXE9 STON2_HUMAN stonin 2 328 endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding skin(3)|pancreas(2) 5 BRCA - Breast invasive adenocarcinoma(234;0.0348) TGAAAGGGTTGATAGGGGAGG 0.512 C14orf109 26175 broad.mit.edu 37 14 93651787 93651787 + Missense_Mutation SNP T A A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr14:93651787T>A uc010auo.2 + 1 413 c.55T>A c.(55-57)TCT>ACT p.S19T MOAP1_uc001ybj.2_5'Flank|C14orf109_uc001ybk.3_Intron NM_001098621 NP_001092091 Q8N6I4 CN109_HUMAN hypothetical protein LOC26175 isoform 1 13 integral to membrane 0 all_cancers(154;0.11)|Acute lymphoblastic leukemia(33;0.0488) Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202) GCTGAGTGACTCTTTAACGCT 0.502 RLTPR 146206 broad.mit.edu 37 16 67683828 67683828 + Missense_Mutation SNP C T T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr16:67683828C>T uc002etn.2 + 21 2159 c.2039C>T c.(2038-2040)GCG>GTG p.A680V RLTPR_uc010cel.1_Missense_Mutation_p.A673V|RLTPR_uc010vjr.1_Missense_Mutation_p.A644V NM_001013838 NP_001013860 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin 680 LRR 16. breast(1) 1 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) GTGGCCCAGGCGCAGCGCAGC 0.647 TP53 7157 broad.mit.edu 37 17 7578203 7578203 + Missense_Mutation SNP C T T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr17:7578203C>T uc002gim.2 - 6 840 c.646G>A c.(646-648)GTG>ATG p.V216M TP53_uc002gig.1_Missense_Mutation_p.V216M|TP53_uc002gih.2_Missense_Mutation_p.V216M|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V84M|TP53_uc010cng.1_Missense_Mutation_p.V84M|TP53_uc002gii.1_Missense_Mutation_p.V84M|TP53_uc010cnh.1_Missense_Mutation_p.V216M|TP53_uc010cni.1_Missense_Mutation_p.V216M|TP53_uc002gij.2_Missense_Mutation_p.V216M|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.V123M|TP53_uc002gio.2_Missense_Mutation_p.V84M|TP53_uc010vug.1_Missense_Mutation_p.V177M NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 216 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|V -> M (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> G (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.V216M(49)|p.V216del(8)|p.0?(7)|p.V216L(7)|p.V216E(4)|p.V216G(3)|p.V216A(3)|p.V216fs*6(2)|p.V216fs*31(2)|p.H214fs*5(2)|p.K164_P219del(1)|p.V216fs*32(1)|p.V216fs*33(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.V216fs*5(1)|p.V216_Y220delVVVPY(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.V216fs*28(1)|p.S215fs*31(1)|p.S215_V216insX(1)|p.T211fs*28(1)|p.D207_V216del10(1)|p.S215_V218>R(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) GGCACCACCACACTATGTCGA 0.537 111 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) PLXDC1 57125 broad.mit.edu 37 17 37265501 37265501 + Silent SNP C T T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr17:37265501C>T uc002hrg.2 - 3 611 c.399G>A c.(397-399)TCG>TCA p.S133S PLXDC1_uc002hrh.2_RNA|PLXDC1_uc002hri.2_RNA|PLXDC1_uc002hrj.1_RNA|PLXDC1_uc002hrk.1_RNA NM_020405 NP_065138 Q8IUK5 PXDC1_HUMAN plexin domain containing 1 precursor 133 Extracellular (Potential). angiogenesis cytoplasm|extracellular region|integral to membrane|tight junction ovary(1)|kidney(1)|skin(1) 3 GGGCACTCACCGAAGCCTGCC 0.657 KRTAP4-8 728224 broad.mit.edu 37 17 39254054 39254054 + Missense_Mutation SNP A T T rs76270529 by1000genomes TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr17:39254054A>T uc010wfo.1 - 1 322 c.283T>A c.(283-285)TGC>AGC p.C95S NM_031960 NP_114166 Q9BYQ9 KRA48_HUMAN keratin associated protein 4.8 95 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].|15. keratin filament 0 ctggagatgcagcagcTAGGG 0.318 SCN4A 6329 broad.mit.edu 37 17 62036660 62036660 + Missense_Mutation SNP C T T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr17:62036660C>T uc002jds.1 - 12 2061 c.1984G>A c.(1984-1986)GTA>ATA p.V662I NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 662 II. muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) AGTCCCTGTACGTTGGCCAGG 0.592 PALM 5064 broad.mit.edu 37 19 746653 746653 + Missense_Mutation SNP G A A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr19:746653G>A uc002lpm.1 + 9 1197 c.1003G>A c.(1003-1005)GCT>ACT p.A335T PALM_uc002lpn.1_Missense_Mutation_p.A291T|PALM_uc010xfu.1_Missense_Mutation_p.A200T NM_002579 NP_002570 O75781 PALM_HUMAN paralemmin isoform 1 335 cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane 0 all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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)|Lung(535;0.201) CGAAGACGCGGCTGAGCCCAA 0.647 SAFB2 9667 broad.mit.edu 37 19 5587954 5587954 + Missense_Mutation SNP C T T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr19:5587954C>T uc002mcd.2 - 19 2775 c.2563G>A c.(2563-2565)GAG>AAG p.E855K NM_014649 NP_055464 Q14151 SAFB2_HUMAN scaffold attachment factor B2 855 Interacts with SAFB1.|Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding 0 UCEC - Uterine corpus endometrioid carcinoma (162;0.000228) TGGTGCTCCTCTAGCCGCTGG 0.652 IFT172 26160 broad.mit.edu 37 2 27670769 27670769 + Missense_Mutation SNP C A A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr2:27670769C>A uc002rku.2 - 41 4500 c.4449G>T c.(4447-4449)AGG>AGT p.R1483S IFT172_uc010ezb.2_RNA NM_015662 NP_056477 Q9UG01 IF172_HUMAN selective LIM binding factor homolog 1483 cilium assembly cilium binding large_intestine(1)|ovary(1) 2 Acute lymphoblastic leukemia(172;0.155) CAGTGAAGATCCTTTTGTAGA 0.502 CAPN13 92291 broad.mit.edu 37 2 30959413 30959413 + Missense_Mutation SNP G T T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr2:30959413G>T uc002rnn.2 - 17 1854 c.1678C>A c.(1678-1680)CAA>AAA p.Q560K CAPN13_uc002rnm.2_RNA NM_144575 NP_653176 Q6MZZ7 CAN13_HUMAN calpain 13 560 EF-hand 1. proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity large_intestine(1)|ovary(1) 2 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) AACTCCTCTTGGTCTAGCCGC 0.493 FAM82A1 151393 broad.mit.edu 37 2 38202445 38202445 + Missense_Mutation SNP T C C TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr2:38202445T>C uc002rql.2 + 4 841 c.718T>C c.(718-720)TAT>CAT p.Y240H FAM82A1_uc002rqn.1_Missense_Mutation_p.Y418H|FAM82A1_uc002rqk.1_Missense_Mutation_p.Y95H|FAM82A1_uc002rqm.2_Missense_Mutation_p.Y95H NM_144713 NP_653314 Q96LZ7 RMD2_HUMAN family with sequence similarity 82, member A1 240 cytoplasm|integral to membrane|microtubule|spindle pole binding ovary(1) 1 AAAGAAACATTATGCTAATAT 0.254 SULT1C4 27233 broad.mit.edu 37 2 108999906 108999906 + Silent SNP A T T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr2:108999906A>T uc002tea.1 + 5 928 c.555A>T c.(553-555)GGA>GGT p.G185G SULT1C4_uc010ywr.1_RNA|SULT1C4_uc002teb.1_Silent_p.G110G NM_006588 NP_006579 O75897 ST1C4_HUMAN sulfotransferase family, cytosolic, 1C, member 185 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol sulfotransferase activity 0 ATGTGAAAGGATGGTGGGAAG 0.478 RPRM 56475 broad.mit.edu 37 2 154334770 154334770 + Missense_Mutation SNP C T T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr2:154334770C>T uc002tyq.1 - 1 553 c.310G>A c.(310-312)GTG>ATG p.V104M NM_019845 NP_062819 Q9NS64 RPRM_HUMAN reprimo, TP53 dependant G2 arrest mediator 104 cell cycle arrest cytoplasm|integral to membrane protein binding 0 CCCACGACCACCGCCTCCACC 0.637 STAT4 6775 broad.mit.edu 37 2 192011451 192011451 + Missense_Mutation SNP G A A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr2:192011451G>A uc002usm.1 - 3 415 c.161C>T c.(160-162)ACG>ATG p.T54M STAT4_uc010zgm.1_RNA|STAT4_uc010zgn.1_RNA|STAT4_uc010zgo.1_RNA|STAT4_uc002usn.1_Missense_Mutation_p.T54M|STAT4_uc002uso.2_Missense_Mutation_p.T54M|STAT4_uc002usp.3_Missense_Mutation_p.T54M|STAT4_uc010zgl.1_Missense_Mutation_p.T54M NM_003151 NP_003142 Q14765 STAT4_HUMAN signal transducer and activator of transcription 54 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) AAGAAGAATCGTTGCCATGGT 0.323 CD28 940 broad.mit.edu 37 2 204599561 204599561 + Missense_Mutation SNP C T T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr2:204599561C>T uc002vah.3 + 4 811 c.589C>T c.(589-591)CGC>TGC p.R197C CD28_uc010zio.1_RNA|CD28_uc010ftx.2_Missense_Mutation_p.R78C|CD28_uc002vaj.3_RNA NM_006139 NP_006130 P10747 CD28_HUMAN CD28 antigen precursor 197 Cytoplasmic (Potential). cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction cytosol|external side of plasma membrane|integral to plasma membrane coreceptor activity|protease binding|SH3/SH2 adaptor activity 0 CATGACTCCCCGCCGCCCCGG 0.597 ANGPT4 51378 broad.mit.edu 37 20 860425 860425 + Missense_Mutation SNP C T T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr20:860425C>T uc002wei.2 - 6 1121 c.1018G>A c.(1018-1020)GTG>ATG p.V340M ANGPT4_uc010zpn.1_Missense_Mutation_p.V334M NM_015985 NP_057069 Q9Y264 ANGP4_HUMAN angiopoietin 4 precursor 340 Fibrinogen C-terminal. anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity ovary(2) 2 TGAAAATTCACGGTGCCATTC 0.617 PTPRT 11122 broad.mit.edu 37 20 41306569 41306569 + Nonsense_Mutation SNP G A A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr20:41306569G>A uc002xkg.2 - 7 1274 c.1090C>T c.(1090-1092)CGA>TGA p.R364* PTPRT_uc010ggj.2_Nonsense_Mutation_p.R364* NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 364 Extracellular (Potential).|Fibronectin type-III 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TCACCTGGTCGTGTGAGGAGC 0.562 MATN4 8785 broad.mit.edu 37 20 43927042 43927042 + Silent SNP A T T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr20:43927042A>T uc002xnn.2 - 7 1381 c.1194T>A c.(1192-1194)CCT>CCA p.P398P MATN4_uc002xno.2_Silent_p.P357P|MATN4_uc002xnp.2_Silent_p.P316P|MATN4_uc010zwr.1_Silent_p.P346P|MATN4_uc002xnr.1_Silent_p.P398P NM_003833 NP_003824 O95460 MATN4_HUMAN matrilin 4 isoform 1 precursor 439 VWFA 2. extracellular region protein binding 0 Myeloproliferative disorder(115;0.0122) AGCGACCCAGAGGGAACTCGG 0.662 MATN4 8785 broad.mit.edu 37 20 43933002 43933002 + Missense_Mutation SNP G A A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr20:43933002G>A uc002xnn.2 - 3 696 c.509C>T c.(508-510)GCG>GTG p.A170V MATN4_uc002xno.2_Missense_Mutation_p.A170V|MATN4_uc002xnp.2_Missense_Mutation_p.A170V|MATN4_uc010zwr.1_Missense_Mutation_p.A118V|MATN4_uc002xnr.1_Missense_Mutation_p.A170V|RBPJL_uc002xns.2_5'Flank|RBPJL_uc002xnt.2_5'Flank NM_003833 NP_003824 O95460 MATN4_HUMAN matrilin 4 isoform 1 precursor 170 VWFA 1. extracellular region protein binding 0 Myeloproliferative disorder(115;0.0122) CACCCCCACCGCGTAAATTTC 0.706 MMP9 4318 broad.mit.edu 37 20 44641083 44641083 + Missense_Mutation SNP G A A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr20:44641083G>A uc002xqz.2 + 8 1211 c.1192G>A c.(1192-1194)GTG>ATG p.V398M NM_004994 NP_004985 P14780 MMP9_HUMAN matrix metalloproteinase 9 preproprotein 398 collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis extracellular space|proteinaceous extracellular matrix collagen binding|metalloendopeptidase activity|zinc ion binding ovary(1)|pancreas(1) 2 Myeloproliferative disorder(115;0.0122) Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641) TTTGTTCCTCGTGGCGGCGCA 0.662 MIOX 55586 broad.mit.edu 37 22 50928230 50928230 + Missense_Mutation SNP G A A rs140377157 byFrequency TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr22:50928230G>A uc003bll.1 + 10 917 c.803G>A c.(802-804)CGG>CAG p.R268Q MIOX_uc003blm.1_Silent_p.A263A|MIOX_uc003bln.1_Silent_p.A224A NM_017584 NP_060054 Q9UGB7 MIOX_HUMAN myo-inositol oxygenase 268 inositol catabolic process cytoplasm|inclusion body aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity 0 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GACAAGCTGCGGCCCTACTAC 0.662 SCN5A 6331 broad.mit.edu 37 3 38592026 38592026 + Missense_Mutation SNP C A A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr3:38592026C>A uc003cio.2 - 28 6031 c.5837G>T c.(5836-5838)GGC>GTC p.G1946V SCN5A_uc003cin.2_Missense_Mutation_p.G1945V|SCN5A_uc003cil.3_Missense_Mutation_p.G1946V|SCN5A_uc010hhi.2_Missense_Mutation_p.G1928V|SCN5A_uc010hhk.2_Missense_Mutation_p.G1913V|SCN5A_uc011ayr.1_Missense_Mutation_p.G1892V NM_198056 NP_932173 Q14524 SCN5A_HUMAN voltage-gated sodium channel type V alpha 1946 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1) 9 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GGCGATGAGGCCCTCTCGCTC 0.622 SNRK 54861 broad.mit.edu 37 3 43381834 43381834 + Missense_Mutation SNP A C C TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr3:43381834A>C uc003cms.3 + 5 1119 c.787A>C c.(787-789)ATT>CTT p.I263L SNRK_uc003cmt.3_Missense_Mutation_p.I263L|SNRK_uc010hik.2_Missense_Mutation_p.I263L|SNRK_uc011azr.1_Missense_Mutation_p.I57L NM_017719 NP_060189 Q9NRH2 SNRK_HUMAN SNF related kinase 263 Protein kinase. myeloid cell differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity ovary(3)|stomach(1)|breast(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792) TTTAGAAGAGATTGAAAATCA 0.443 LETM1 3954 broad.mit.edu 37 4 1818642 1818642 + Splice_Site SNP C T T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr4:1818642C>T uc003gdv.2 - 12 2041 c.1744_splice c.e12-1 p.D582_splice NM_012318 NP_036450 O95202 LETM1_HUMAN leucine zipper-EF-hand containing transmembrane cristae formation integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding central_nervous_system(1) 1 all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141) CCTGCAAGTCCTAATAAAATT 0.264 WHSC1 7468 broad.mit.edu 37 4 1978378 1978378 + Silent SNP C A A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr4:1978378C>A uc003gdz.3 + 21 3974 c.3798C>A c.(3796-3798)TCC>TCA p.S1266S WHSC1_uc003geb.3_Silent_p.S1266S|WHSC1_uc003gec.3_Silent_p.S1266S|WHSC1_uc003ged.3_Silent_p.S1266S|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Silent_p.S485S|WHSC1_uc011bvh.1_Silent_p.S327S|WHSC1_uc010icf.2_Silent_p.S614S NM_001042424 NP_001035889 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 protein 1266 PHD-type 4; atypical. anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) ACCACCTGTCCTGCCTGGGCC 0.657 T IGH@ MM FAM193A 8603 broad.mit.edu 37 4 2692666 2692667 + Frame_Shift_Del DEL CA - - TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr4:2692666_2692667delCA uc010icl.2 + 13 2250_2251 c.1899_1900delCA c.(1897-1902)TTCAGAfs p.F633fs FAM193A_uc010ick.2_Frame_Shift_Del_p.F833fs|FAM193A_uc003gfd.2_Frame_Shift_Del_p.F633fs|FAM193A_uc011bvm.1_Frame_Shift_Del_p.F655fs|FAM193A_uc011bvn.1_Frame_Shift_Del_p.F633fs|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Frame_Shift_Del_p.F487fs NM_003704 NP_003695 P78312 F193A_HUMAN hypothetical protein LOC8603 633_634 ovary(3) 3 ACAGCCAGTTCAGAGTGTCATC 0.530 USP46 64854 broad.mit.edu 37 4 53468067 53468067 + Silent SNP C G G TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr4:53468067C>G uc003gzn.2 - 7 1061 c.876G>C c.(874-876)CTG>CTC p.L292L USP46_uc003gzm.3_Silent_p.L285L|USP46_uc011bzr.1_Silent_p.L269L|USP46_uc011bzs.1_Silent_p.L176L NM_022832 NP_073743 P62068 UBP46_HUMAN ubiquitin specific peptidase 46 isoform 1 292 behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(1) 1 LUSC - Lung squamous cell carcinoma(32;0.0295) ACATGCGGTCCAGGTTCACTG 0.537 C4orf40 401137 broad.mit.edu 37 4 71024299 71024299 + Silent SNP G A A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr4:71024299G>A uc003hfa.3 + 4 403 c.330G>A c.(328-330)CCG>CCA p.P110P C4orf40_uc003hfb.3_Silent_p.P110P NM_214711 NP_999876 Q6MZM9 CD040_HUMAN hypothetical protein LOC401137 precursor 110 extracellular region 0 GGGGTTTCCCGTTTGTCCCTC 0.532 PRDM5 11107 broad.mit.edu 37 4 121720881 121720884 + Frame_Shift_Del DEL CAAT - - rs34666716 byFrequency TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr4:121720881_121720884delCAAT uc003idn.2 - 9 1212_1215 c.962_965delATTG c.(961-966)GATTGTfs p.D321fs PRDM5_uc003ido.2_Frame_Shift_Del_p.D290fs|PRDM5_uc010ine.2_Frame_Shift_Del_p.D290fs NM_018699 NP_061169 Q9NQX1 PRDM5_HUMAN PR domain containing 5 321_322 C2H2-type 6. histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|pancreas(1) 2 ACATTCTTGACAATCAAATATCTC 0.309 GPR98 84059 broad.mit.edu 37 5 89981612 89981612 + Missense_Mutation SNP G A A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr5:89981612G>A uc003kju.2 + 29 6386 c.6290G>A c.(6289-6291)CGT>CAT p.R2097H GPR98_uc003kjt.2_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 2097 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AATTCTCCACGTCTTGGGCCT 0.423 ADAMTS19 171019 broad.mit.edu 37 5 128957961 128957961 + Missense_Mutation SNP C G G TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr5:128957961C>G uc003kvb.1 + 10 1672 c.1672C>G c.(1672-1674)CTG>GTG p.L558V ADAMTS19_uc010jdh.1_RNA NM_133638 NP_598377 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 558 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|breast(2)|lung(1)|skin(1) 9 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) TCCCTCCAAGCTGCCAGGGAT 0.468 GABRA6 2559 broad.mit.edu 37 5 161116169 161116169 + Missense_Mutation SNP C A A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr5:161116169C>A uc003lyu.2 + 4 778 c.440C>A c.(439-441)ACC>AAC p.T147N GABRA6_uc003lyv.2_5'Flank NM_000811 NP_000802 Q16445 GBRA6_HUMAN gamma-aminobutyric acid A receptor, alpha 6 147 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ATTTTATACACCATGAGGTGA 0.373 TCGA Ovarian(5;0.080) DDX41 51428 broad.mit.edu 37 5 176943782 176943782 + Missense_Mutation SNP C G G TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr5:176943782C>G uc003mho.2 - 2 103 c.82G>C c.(82-84)GAG>CAG p.E28Q DDX41_uc003mhm.2_5'Flank|DDX41_uc003mhn.2_5'UTR|DDX41_uc003mhp.2_5'UTR|DDX41_uc003mhq.1_5'UTR NM_016222 NP_057306 Q9UJV9 DDX41_HUMAN DEAD-box protein abstrakt 28 PAGGSRSEAEDEDDEDYVPYVPLRQRR -> LPEEAAPRRK MRTTRTTCPMCRYAAP (in Ref. 1; AAF04150). apoptosis|multicellular organismal development catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding 0 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191) TCGTCGTCCTCATCTTCCGCC 0.706 GPR116 221395 broad.mit.edu 37 6 46826114 46826114 + Missense_Mutation SNP C T T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr6:46826114C>T uc003oyo.3 - 17 3815 c.3526G>A c.(3526-3528)GCC>ACC p.A1176T GPR116_uc011dwj.1_Missense_Mutation_p.A731T|GPR116_uc011dwk.1_Missense_Mutation_p.A605T|GPR116_uc003oyp.3_Missense_Mutation_p.A1034T|GPR116_uc003oyq.3_Missense_Mutation_p.A1176T|GPR116_uc010jzi.1_Missense_Mutation_p.A848T NM_001098518 NP_001091988 Q8IZF2 GP116_HUMAN G-protein coupled receptor 116 precursor 1176 Helical; Name=5; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|skin(1) 2 Lung(136;0.192) GCTGGGATGGCGAAAGCCAGC 0.547 NT5E 4907 broad.mit.edu 37 6 86197137 86197137 + Missense_Mutation SNP A G G TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr6:86197137A>G uc003pko.3 + 5 1590 c.1034A>G c.(1033-1035)TAT>TGT p.Y345C NT5E_uc010kbr.2_Missense_Mutation_p.Y345C NM_002526 NP_002517 P21589 5NTD_HUMAN 5' nucleotidase, ecto precursor 345 DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process anchored to membrane|cytoplasm|membrane fraction|plasma membrane 5'-nucleotidase activity|nucleotide binding ovary(3)|central_nervous_system(1) 4 all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427) BRCA - Breast invasive adenocarcinoma(108;0.0417) Pentoxifylline(DB00806) ACAATTGTCTATCTGGATGGC 0.393 MDN1 23195 broad.mit.edu 37 6 90362720 90362720 + Frame_Shift_Del DEL C - - TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr6:90362720delC uc003pnn.1 - 94 15932 c.15816delG c.(15814-15816)ACGfs p.T5272fs NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 5272 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CCTGGAAGATCGTGTCCATGA 0.333 MAP3K7 6885 broad.mit.edu 37 6 91281453 91281453 + Missense_Mutation SNP A G G TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr6:91281453A>G uc003pnz.1 - 2 356 c.194T>C c.(193-195)ATA>ACA p.I65T MAP3K7_uc003poa.1_Missense_Mutation_p.I65T|MAP3K7_uc003pob.1_Missense_Mutation_p.I65T|MAP3K7_uc003poc.1_Missense_Mutation_p.I65T NM_145331 NP_663304 O43318 M3K7_HUMAN mitogen-activated protein kinase kinase kinase 7 65 Protein kinase. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1) 6 all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164) OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429) TTCACTTTCTATTTGTTTAAT 0.318 SLC16A10 117247 broad.mit.edu 37 6 111498841 111498841 + Silent SNP T C C TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr6:111498841T>C uc003pus.2 + 3 1090 c.915T>C c.(913-915)TTT>TTC p.F305F SLC16A10_uc003pur.3_Silent_p.F305F|SLC16A10_uc003put.2_5'UTR NM_018593 NP_061063 Q8TF71 MOT10_HUMAN solute carrier family 16, member 10 305 Helical; (Potential). aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport basolateral plasma membrane|integral to membrane amino acid transmembrane transporter activity 0 all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466) OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132) TTGCACTTTTTGGATACTTTG 0.363 RSPH4A 345895 broad.mit.edu 37 6 116938051 116938051 + Nonsense_Mutation SNP G T T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr6:116938051G>T uc003pxe.2 + 1 410 c.265G>T c.(265-267)GAG>TAG p.E89* RSPH4A_uc010kee.2_Nonsense_Mutation_p.E89* NM_001010892 NP_001010892 Q5TD94 RSH4A_HUMAN radial spoke head 4 homolog A isoform 1 89 cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton|radial spoke 0 CTCTCCGCGGGAGCCCTCTTC 0.647 Kartagener_syndrome RFX6 222546 broad.mit.edu 37 6 117244279 117244279 + Missense_Mutation SNP C A A rs144863251 TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr6:117244279C>A uc003pxm.2 + 14 1510 c.1447C>A c.(1447-1449)CAA>AAA p.Q483K NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 483 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding p.Q483K(1) ovary(1)|pancreas(1)|skin(1) 3 GACCAGCAAACAAAATGGAAG 0.363 CNKSR3 154043 broad.mit.edu 37 6 154743668 154743668 + Frame_Shift_Del DEL T - - TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr6:154743668delT uc003qpy.2 - 9 1422 c.917delA c.(916-918)AACfs p.N306fs NM_173515 NP_775786 Q6P9H4 CNKR3_HUMAN CNKSR family member 3 306 negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport cytoplasm|membrane ovary(2)|breast(1)|skin(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627) CCACCGTAGGTTTTTCAGGGG 0.448 DLL1 28514 broad.mit.edu 37 6 170599203 170599203 + Silent SNP G A A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr6:170599203G>A uc003qxm.2 - 1 495 c.25C>T c.(25-27)CTG>TTG p.L9L DLL1_uc011ehc.1_Silent_p.L9L|DLL1_uc003qxn.3_Silent_p.L9L NM_005618 NP_005609 O00548 DLL1_HUMAN delta-like 1 precursor 9 cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion extracellular region|integral to plasma membrane calcium ion binding|Notch binding lung(4)|ovary(1) 5 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584) AGCACCGCCAGGGCCAGCGCG 0.647 HOXA6 3203 broad.mit.edu 37 7 27186942 27186942 + Missense_Mutation SNP T G G TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr7:27186942T>G uc003syo.1 - 1 427 c.427A>C c.(427-429)ATG>CTG p.M143L uc003syp.1_Missense_Mutation_p.S9A NM_024014 NP_076919 P31267 HXA6_HUMAN homeobox A6 143 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 CAGGAGTTCATCCGCTGCATC 0.493 TXNDC3 51314 broad.mit.edu 37 7 37903981 37903981 + Silent SNP G C C TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr7:37903981G>C uc003tfn.2 + 9 858 c.486G>C c.(484-486)CCG>CCC p.P162P NM_016616 NP_057700 Q8N427 TXND3_HUMAN thioredoxin domain containing 3 162 NDK 1. cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity ovary(1)|breast(1)|central_nervous_system(1) 3 TTATCAAACCGGATGCTGTGA 0.284 Kartagener_syndrome ABCB1 5243 broad.mit.edu 37 7 87179256 87179256 + Missense_Mutation SNP G A A rs142600685 byFrequency TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr7:87179256G>A uc003uiz.1 - 14 1883 c.1465C>T c.(1465-1467)CGC>TGC p.R489C ABCB1_uc011khc.1_Missense_Mutation_p.R425C NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 489 ABC transporter 1.|Cytoplasmic (Potential). G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) CGGCCATAGCGAATGTTTTCA 0.428 MCM7 4176 broad.mit.edu 37 7 99693696 99693696 + Silent SNP C T T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr7:99693696C>T uc003usw.1 - 11 1806 c.1296G>A c.(1294-1296)GGG>GGA p.G432G MCM7_uc003usv.1_Silent_p.G256G|MCM7_uc003usx.1_Silent_p.G256G|uc003usy.1_5'Flank|MIR25_hsa-mir-25|MI0000082_5'Flank|uc003usz.1_5'Flank|MIR93_hsa-mir-93|MI0000095_5'Flank|uc003uta.1_5'Flank|MIR106B_hsa-mir-106b|MI0000734_5'Flank NM_005916 NP_005907 P33993 MCM7_HUMAN minichromosome maintenance complex component 7 432 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|protein binding 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Atorvastatin(DB01076) GCACCAGGGCCCCACCCTCTA 0.612 MUC17 140453 broad.mit.edu 37 7 100681846 100681846 + Silent SNP C T T rs138267850 TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr7:100681846C>T uc003uxp.1 + 3 7202 c.7149C>T c.(7147-7149)GAC>GAT p.D2383D MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 2383 Extracellular (Potential).|59 X approximate tandem repeats.|38.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) CAACTGCTGACGATACTAGCA 0.498 PIK3CG 5294 broad.mit.edu 37 7 106508257 106508257 + Missense_Mutation SNP C T T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr7:106508257C>T uc003vdv.3 + 2 336 c.251C>T c.(250-252)GCG>GTG p.A84V PIK3CG_uc003vdu.2_Missense_Mutation_p.A84V|PIK3CG_uc003vdw.2_Missense_Mutation_p.A84V NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 84 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 ACCAGCGTGGCGGCGGACTTC 0.637 EBF2 64641 broad.mit.edu 37 8 25766052 25766052 + Missense_Mutation SNP G T T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr8:25766052G>T uc003xes.1 - 7 588 c.571C>A c.(571-573)CTC>ATC p.L191I PPP2R2A_uc003xek.2_Intron NM_022659 NP_073150 Q9HAK2 COE2_HUMAN early B-cell factor 2 191 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding ovary(3)|skin(1) 4 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) TTGCACTTGAGGAAAAATTTT 0.363 TMC1 117531 broad.mit.edu 37 9 75441788 75441789 + Frame_Shift_Ins INS - A A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr9:75441788_75441789insA uc004aiz.1 + 21 2547_2548 c.2007_2008insA c.(2005-2010)GGCAAAfs p.G669fs TMC1_uc010moz.1_Frame_Shift_Ins_p.G627fs|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Frame_Shift_Ins_p.G523fs|TMC1_uc010mpa.1_Frame_Shift_Ins_p.G523fs NM_138691 NP_619636 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 669_670 Extracellular (Potential). sensory perception of sound integral to membrane ovary(1) 1 CCCCCAGTGGCAAAAATAGAAT 0.411 ACTL7B 10880 broad.mit.edu 37 9 111618206 111618206 + Missense_Mutation SNP G A A rs139165156 TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr9:111618206G>A uc004bdi.2 - 1 70 c.5C>T c.(4-6)GCG>GTG p.A2V NM_006686 NP_006677 Q9Y614 ACL7B_HUMAN actin-like 7B 2 actin cytoskeleton|cytoplasm structural constituent of cytoskeleton pancreas(1) 1 GTTCCTTGTCGCCATCTGCCT 0.667 COL5A1 1289 broad.mit.edu 37 9 137620520 137620520 + Missense_Mutation SNP C T T rs148548209 TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr9:137620520C>T uc004cfe.2 + 6 1173 c.791C>T c.(790-792)ACG>ATG p.T264M NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 264 Nonhelical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) TTTCAGTACACGGAAGGAGAC 0.612 EIF1AX 1964 broad.mit.edu 37 X 20148634 20148634 + Silent SNP G A A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chrX:20148634G>A uc004czt.2 - 6 637 c.429C>T c.(427-429)GAC>GAT p.D143D NM_001412 NP_001403 P47813 IF1AX_HUMAN X-linked eukaryotic translation initiation 143 cytosol translation initiation factor activity ovary(1) 1 ATCTACTTACGTCATCAATAT 0.338 ZNF674 641339 broad.mit.edu 37 X 46359485 46359485 + Silent SNP G T T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chrX:46359485G>T uc004dgr.2 - 6 1766 c.1539C>A c.(1537-1539)ATC>ATA p.I513I ZNF674_uc011mlg.1_Silent_p.I507I NM_001039891 NP_001034980 Q2M3X9 ZN674_HUMAN zinc finger family member 674 isoform 1 513 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2) 2 TCTGATGTTTGATGAGAGTTG 0.398 LOC100133957 100133957 broad.mit.edu 37 X 47518408 47518408 + Silent SNP C T T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chrX:47518408C>T uc011mlt.1 + 1 157 c.84C>T c.(82-84)CTC>CTT p.L28L UXT_uc004dim.2_5'UTR|UXT_uc004din.2_Intron|LOC100133957_uc011mls.1_Silent_p.L28L NR_027444 SubName: Full=cDNA FLJ53557; 0 TCTCTACCCTCTCAACGCTGG 0.642 ACRC 93953 broad.mit.edu 37 X 70830591 70830591 + Missense_Mutation SNP A G G TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chrX:70830591A>G uc004eae.2 + 11 2173 c.1672A>G c.(1672-1674)AGC>GGC p.S558G BCYRN1_uc011mpt.1_Intron NM_052957 NP_443189 Q96QF7 ACRC_HUMAN ACRC protein 558 nucleus ovary(3) 3 Renal(35;0.156) TGGCTTATGCAGCACTGGTGA 0.493 RPS4X 6191 broad.mit.edu 37 X 71492579 71492579 + Missense_Mutation SNP C T T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chrX:71492579C>T uc004ear.2 - 7 830 c.734G>A c.(733-735)CGC>CAC p.R245H NM_001007 NP_000998 P62701 RS4X_HUMAN ribosomal protein S4, X-linked X isoform 245 endocrine pancreas development|positive regulation of cell proliferation|positive regulation of translation|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|polysome rRNA binding|structural constituent of ribosome 0 Renal(35;0.156) AATGGTGAGGCGGATACCCTT 0.488 COL4A6 1288 broad.mit.edu 37 X 107407829 107407829 + Splice_Site SNP C A A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chrX:107407829C>A uc004enw.3 - 40 4175 c.4072_splice c.e40+1 p.G1358_splice COL4A6_uc004env.3_Splice_Site_p.G1357_splice|COL4A6_uc011msn.1_Splice_Site_p.G1333_splice|COL4A6_uc010npk.2_Intron|COL4A6_uc010npj.2_5'Flank NM_001847 NP_001838 Q14031 CO4A6_HUMAN type IV alpha 6 collagen isoform A precursor cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding ovary(6)|urinary_tract(1)|large_intestine(1) 8 TCTCAACTTACCTCTTGGCCC 0.592 Alport_syndrome_with_Diffuse_Leiomyomatosis MAGEC2 51438 broad.mit.edu 37 X 141291591 141291591 + Silent SNP C T T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chrX:141291591C>T uc004fbu.1 - 3 531 c.183G>A c.(181-183)CTG>CTA p.L61L NM_016249 NP_057333 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 61 cytoplasm|nucleus breast(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) CACCAAGAATCAGAGAAGAGG 0.443 HNSCC(46;0.14)