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 EPHA10 284656 broad.mit.edu 37 1 38227511 38227511 + Missense_Mutation SNP C T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr1:38227511C>T uc009vvi.2 - 3 502 c.416G>A c.(415-417)CGT>CAT p.R139H EPHA10_uc001cbw.3_Missense_Mutation_p.R139H NM_001099439 NP_001092909 Q5JZY3 EPHAA_HUMAN EPH receptor A10 isofom 3 139 Extracellular (Potential). extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity breast(4)|stomach(3)|lung(1) 8 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GGGACGCCCACGGCCCAGGTC 0.657 KIAA0467 23334 broad.mit.edu 37 1 43905598 43905598 + Silent SNP G A A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr1:43905598G>A uc001cjk.1 + 36 4854 c.4392G>A c.(4390-4392)GGG>GGA p.G1464G NM_015284 NP_056099 Q5T011 SZT2_HUMAN hypothetical protein LOC23334 2363 peroxisome 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GGGAAAAGGGGAACATTAGTA 0.567 DAB1 1600 broad.mit.edu 37 1 57535099 57535099 + Splice_Site SNP C T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr1:57535099C>T uc001cys.1 - 10 1272 c.598_splice c.e10-1 p.Y200_splice DAB1_uc001cyt.1_Splice_Site_p.Y200_splice|DAB1_uc001cyq.1_Intron|DAB1_uc001cyr.1_Intron|DAB1_uc009vzw.1_Intron|DAB1_uc009vzx.1_Splice_Site_p.Y200_splice NM_021080 NP_066566 O75553 DAB1_HUMAN disabled homolog 1 cell differentiation|nervous system development skin(2)|ovary(1) 3 ACACAATGTACTATTACAGGA 0.413 TNNI3K 51086 broad.mit.edu 37 1 74665467 74665467 + Missense_Mutation SNP C T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr1:74665467C>T uc001dge.1 + 2 218 c.202C>T c.(202-204)CTT>TTT p.L68F LRRIQ3_uc001dfy.3_5'Flank|LRRIQ3_uc001dfz.3_5'Flank|TNNI3K_uc001dgc.1_Missense_Mutation_p.L68F|TNNI3K_uc001dgd.2_Missense_Mutation_p.L68F|FPGT_uc010oqt.1_5'UTR|FPGT_uc010oqu.1_Missense_Mutation_p.L68F|FPGT_uc001dgb.1_Missense_Mutation_p.L68F|FPGT_uc010oqv.1_Missense_Mutation_p.L68F NM_001112808 NP_001106279 Q59H18 TNI3K_HUMAN TNNI3 interacting kinase isoform a Error:Variant_position_missing_in_Q59H18_after_alignment cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 10 GGAGTTACCCCTTGGAGTTCA 0.403 ST6GALNAC3 256435 broad.mit.edu 37 1 76877752 76877752 + Silent SNP C T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr1:76877752C>T uc001dhh.2 + 3 436 c.273C>T c.(271-273)GGC>GGT p.G91G ST6GALNAC3_uc001dhg.3_Silent_p.G91G|ST6GALNAC3_uc010orh.1_Silent_p.G26G NM_152996 NP_694541 Q8NDV1 SIA7C_HUMAN sialyltransferase 7C isoform 1 91 Lumenal (Potential). protein glycosylation integral to Golgi membrane sialyltransferase activity ovary(3)|skin(2) 5 AGATGGTTGGCCAGAAGGTGG 0.448 PDE4DIP 9659 broad.mit.edu 37 1 144854614 144854614 + Missense_Mutation SNP C T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr1:144854614C>T uc001elw.3 - 42 7147 c.6856G>A c.(6856-6858)GTA>ATA p.V2286I NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.V2180I|PDE4DIP_uc001elv.3_Missense_Mutation_p.V1293I NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 2286 Potential. cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TGTTTGGATACTTTGGTTCTC 0.498 T PDGFRB MPD LCE1E 353135 broad.mit.edu 37 1 152760044 152760044 + Missense_Mutation SNP C A A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr1:152760044C>A uc001fan.2 + 2 322 c.269C>A c.(268-270)CCC>CAC p.P90H NM_178353 NP_848130 Q5T753 LCE1E_HUMAN late cornified envelope 1E 90 Cys-rich. keratinization 0 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CGTCACAGACCCCAGAGCTCT 0.687 RGS4 5999 broad.mit.edu 37 1 163044110 163044110 + Splice_Site SNP G A A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr1:163044110G>A uc009wuy.2 + 5 890 c.379_splice c.e5-1 p.V127_splice RGS4_uc001gcl.3_Splice_Site_p.V224_splice|RGS4_uc009wuz.2_Splice_Site_p.C71_splice|RGS4_uc009wva.2_Splice_Site_p.V109_splice NM_005613 NP_005604 P49798 RGS4_HUMAN regulator of G-protein signaling 4 isoform 2 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity ovary(2)|central_nervous_system(1) 3 TTGCCCCTCAGGTGAACCTGG 0.488 C1orf129 80133 broad.mit.edu 37 1 170928687 170928687 + Silent SNP T G G TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr1:170928687T>G uc001ghg.2 + 5 367 c.237T>G c.(235-237)CTT>CTG p.L79L C1orf129_uc009wvy.2_5'UTR|C1orf129_uc010plz.1_Silent_p.L79L NM_025063 NP_079339 Q5TGP6 CA129_HUMAN hypothetical protein LOC80133 isoform 2 79 binding pancreas(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TGCCAAGTCTTGACAAAGTAA 0.363 CACNA1E 777 broad.mit.edu 37 1 181693656 181693656 + Missense_Mutation SNP G A A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr1:181693656G>A uc001gow.2 + 17 2290 c.2125G>A c.(2125-2127)GCC>ACC p.A709T CACNA1E_uc009wxs.2_Missense_Mutation_p.A616T NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 709 Cytoplasmic (Potential). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 TCTCGCCAACGCCCAGGAACT 0.463 C4BPA 722 broad.mit.edu 37 1 207300203 207300203 + Silent SNP T C C TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr1:207300203T>C uc001hfo.2 + 7 1046 c.852T>C c.(850-852)GAT>GAC p.D284D NM_000715 NP_000706 P04003 C4BPA_HUMAN complement component 4 binding protein, alpha 284 Sushi 4. complement activation, classical pathway|innate immune response extracellular region protein binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 GTGATGCTGATAGCAAATGGA 0.403 PARP1 142 broad.mit.edu 37 1 226550806 226550806 + Missense_Mutation SNP C T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr1:226550806C>T uc001hqd.3 - 21 3013 c.2842G>A c.(2842-2844)GTC>ATC p.V948I NM_001618 NP_001609 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase family, member 1 948 PARP catalytic. cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1) 10 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) TTACCTTTGACACTGTGCTTG 0.527 Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA RYR2 6262 broad.mit.edu 37 1 237789020 237789020 + Missense_Mutation SNP C T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr1:237789020C>T uc001hyl.1 + 40 6202 c.6082C>T c.(6082-6084)CGT>TGT p.R2028C NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2028 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AATTAGAGGGCGTCTGCTATC 0.393 OR2T27 403239 broad.mit.edu 37 1 248814164 248814164 + Missense_Mutation SNP C T T rs144642254 TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr1:248814164C>T uc010pzo.1 - 1 22 c.22G>A c.(22-24)GTG>ATG p.V8M NM_001001824 NP_001001824 Q8NH04 O2T27_HUMAN olfactory receptor, family 2, subfamily T, 8 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCGGCATACACGGAATAATTG 0.433 KIAA1462 57608 broad.mit.edu 37 10 30315264 30315264 + Missense_Mutation SNP C T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr10:30315264C>T uc001iux.2 - 2 3872 c.3813G>A c.(3811-3813)ATG>ATA p.M1271I KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.M1133I|KIAA1462_uc009xle.1_Missense_Mutation_p.M1271I NM_020848 NP_065899 Q9P266 K1462_HUMAN hypothetical protein LOC57608 1271 ovary(4) 4 TCAGGACTCTCATCCGTGACA 0.582 RET 5979 broad.mit.edu 37 10 43604497 43604497 + Missense_Mutation SNP A T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr10:43604497A>T uc001jal.2 + 6 1272 c.1082A>T c.(1081-1083)AAC>ATC p.N361I RET_uc001jak.1_Missense_Mutation_p.N361I|RET_uc010qez.1_Missense_Mutation_p.N107I NM_020975 NP_066124 P07949 RET_HUMAN ret proto-oncogene isoform a 361 Extracellular (Potential). homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1) 451 Ovarian(717;0.0423) Sunitinib(DB01268) CTCAACCGGAACCTCTCCATC 0.597 1 T|Mis|N|F H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3 medullary thyroid| papillary thyroid|pheochromocytoma medullary thyroid| papillary thyroid|pheochromocytoma Hirschsprung disease Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma GPRIN2 9721 broad.mit.edu 37 10 47000008 47000008 + Silent SNP G A A rs111800394 TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr10:47000008G>A uc001jec.2 + 3 1263 c.1128G>A c.(1126-1128)CCG>CCA p.P376P GPRIN2_uc010qfq.1_Silent_p.P139P NM_014696 NP_055511 O60269 GRIN2_HUMAN G protein-regulated inducer of neurite outgrowth 376 0 AGGAGGTGCCGTCCCCTGTGC 0.657 ATRNL1 26033 broad.mit.edu 37 10 117061475 117061475 + Nonsense_Mutation SNP C T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr10:117061475C>T uc001lcg.2 + 17 3126 c.2740C>T c.(2740-2742)CGA>TGA p.R914* ATRNL1_uc010qsm.1_Nonsense_Mutation_p.R89*|ATRNL1_uc010qsn.1_RNA NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 914 PSI 4.|Extracellular (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) CAGTACGAAACGATGTGTTGA 0.453 TSPAN4 7106 broad.mit.edu 37 11 866600 866600 + Silent SNP A G G TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr11:866600A>G uc001lsd.1 + 9 896 c.687A>G c.(685-687)CAA>CAG p.Q229Q TSPAN4_uc001lse.1_Silent_p.Q165Q|TSPAN4_uc001lsf.1_Silent_p.Q229Q|TSPAN4_uc001lsg.1_Silent_p.Q229Q|TSPAN4_uc001lsh.1_Silent_p.Q229Q|TSPAN4_uc001lsi.1_Silent_p.Q229Q|TSPAN4_uc001lsj.1_Silent_p.Q229Q NM_003271 NP_003262 O14817 TSN4_HUMAN tetraspanin 4 isoform a 229 Cytoplasmic (Potential). protein complex assembly integral to plasma membrane breast(1) 1 all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) TGTACTGCCAAGTGGTCAAGG 0.642 OR51S1 119692 broad.mit.edu 37 11 4870245 4870245 + Missense_Mutation SNP C T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr11:4870245C>T uc010qyo.1 - 1 194 c.194G>A c.(193-195)CGC>CAC p.R65H NM_001004758 NP_001004758 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, 65 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) GTGCATTGGGCGGTGCAGGGC 0.572 RCN1 5954 broad.mit.edu 37 11 32119964 32119964 + Missense_Mutation SNP A G G TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr11:32119964A>G uc010reb.1 + 3 783 c.517A>G c.(517-519)AGA>GGA p.R173G RCN1_uc010rea.1_Missense_Mutation_p.R122G|RCN1_uc001mtk.2_Missense_Mutation_p.R7G NM_002901 NP_002892 Q15293 RCN1_HUMAN reticulocalbin 1 precursor 173 EF-hand 3. endoplasmic reticulum lumen calcium ion binding large_intestine(1) 1 Lung SC(675;0.225) ACGTGATGAGAGAAGATTCAA 0.433 OR4C16 219428 broad.mit.edu 37 11 55340233 55340233 + Silent SNP C T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr11:55340233C>T uc010rih.1 + 1 630 c.630C>T c.(628-630)GTC>GTT p.V210V NM_001004701 NP_001004701 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, 210 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_epithelial(135;0.0748) TGAGTTATGTCATGCTAATAT 0.433 OR5D18 219438 broad.mit.edu 37 11 55587827 55587827 + Missense_Mutation SNP C A A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr11:55587827C>A uc010rin.1 + 1 722 c.722C>A c.(721-723)ACC>AAC p.T241N NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, 241 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.208) GCCTTCTCCACCTGTGCCTCC 0.507 LPXN 9404 broad.mit.edu 37 11 58295179 58295179 + Silent SNP A G G TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr11:58295179A>G uc001nmw.2 - 9 1054 c.909T>C c.(907-909)TTT>TTC p.F303F LPXN_uc009ymp.2_Silent_p.F173F|LPXN_uc010rkj.1_Silent_p.F308F|LPXN_uc010rkk.1_Silent_p.F283F NM_004811 NP_004802 O60711 LPXN_HUMAN leupaxin isoform 2 303 LIM zinc-binding 3. cell adhesion|protein complex assembly|signal transduction cytoplasm zinc ion binding ovary(1) 1 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) AGCCAGTAGAAAAACTGGTGA 0.473 TYR 7299 broad.mit.edu 37 11 88911588 88911588 + Missense_Mutation SNP A G G TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr11:88911588A>G uc001pcs.2 + 1 549 c.467A>G c.(466-468)TAT>TGT p.Y156C NM_000372 NP_000363 P14679 TYRO_HUMAN tyrosinase precursor 156 Lumenal, melanosome (Potential). eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) ATAGGGACCTATGGCCAAATG 0.408 Oculocutaneous_Albinism FAT3 120114 broad.mit.edu 37 11 92577445 92577445 + Missense_Mutation SNP G C C TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr11:92577445G>C uc001pdj.3 + 18 10929 c.10912G>C c.(10912-10914)GAG>CAG p.E3638Q FAT3_uc001pdi.3_Missense_Mutation_p.E78Q NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 3638 Cadherin 33.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CGTGCATGTGGAGCAGTTGGT 0.557 TCGA Ovarian(4;0.039) OR10G8 219869 broad.mit.edu 37 11 123901051 123901051 + Missense_Mutation SNP C G G TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr11:123901051C>G uc001pzp.1 + 1 722 c.722C>G c.(721-723)GCC>GGC p.A241G NM_001004464 NP_001004464 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, 241 Helical; Name=6; (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;0.0521) CAGACCTGTGCCTCCCACTGT 0.547 CACNA1C 775 broad.mit.edu 37 12 2675631 2675631 + Missense_Mutation SNP C T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr12:2675631C>T uc009zdu.1 + 12 1865 c.1552C>T c.(1552-1554)CGC>TGC p.R518C CACNA1C_uc009zdv.1_Missense_Mutation_p.R515C|CACNA1C_uc001qkb.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkc.2_Missense_Mutation_p.R518C|CACNA1C_uc001qke.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkf.2_Missense_Mutation_p.R518C|CACNA1C_uc001qjz.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkd.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkg.2_Missense_Mutation_p.R518C|CACNA1C_uc009zdw.1_Missense_Mutation_p.R518C|CACNA1C_uc001qkh.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkl.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkn.2_Missense_Mutation_p.R518C|CACNA1C_uc001qko.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkp.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkr.2_Missense_Mutation_p.R518C|CACNA1C_uc001qku.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkq.2_Missense_Mutation_p.R518C|CACNA1C_uc001qks.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkt.2_Missense_Mutation_p.R518C|CACNA1C_uc001qka.1_Missense_Mutation_p.R53C|CACNA1C_uc001qki.1_Missense_Mutation_p.R254C|CACNA1C_uc001qkj.1_Missense_Mutation_p.R254C|CACNA1C_uc001qkk.1_Missense_Mutation_p.R254C|CACNA1C_uc001qkm.1_Missense_Mutation_p.R254C|CACNA1C_uc009zdy.1_Missense_Mutation_p.R183C|CACNA1C_uc001qkv.1_Missense_Mutation_p.R88C NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 518 II.|Cytoplasmic (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) AAGGAAGTGCCGCGCCGCAGT 0.562 CREBL2 1389 broad.mit.edu 37 12 12765120 12765120 + Missense_Mutation SNP A C C TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr12:12765120A>C uc001rap.1 + 1 290 c.14A>C c.(13-15)AAG>ACG p.K5T NM_001310 NP_001301 O60519 CRBL2_HUMAN cAMP responsive element binding protein-like 2 5 cell cycle|signal transduction nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Prostate(47;0.0684) BRCA - Breast invasive adenocarcinoma(232;0.0503) GATGACAGTAAGGTAAGTCTT 0.677 CNTN1 1272 broad.mit.edu 37 12 41410534 41410534 + Silent SNP A T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr12:41410534A>T uc001rmm.1 + 19 2348 c.2235A>T c.(2233-2235)GCA>GCT p.A745A CNTN1_uc001rmn.1_Silent_p.A734A NM_001843 NP_001834 Q12860 CNTN1_HUMAN contactin 1 isoform 1 precursor 745 Fibronectin type-III 2. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane lung(4)|ovary(3)|large_intestine(1)|skin(1) 9 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) ACATAGTGGCATTTAAGCCAT 0.368 SRGAP1 57522 broad.mit.edu 37 12 64491111 64491111 + Missense_Mutation SNP C T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr12:64491111C>T uc010ssp.1 + 15 1825 c.1769C>T c.(1768-1770)CCC>CTC p.P590L SRGAP1_uc001srv.2_Missense_Mutation_p.P527L NM_020762 NP_065813 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 590 Rho-GAP. axon guidance cytosol ovary(2)|central_nervous_system(2) 4 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) CTGGAAAACCCCCTCTTTCCT 0.378 PTPRB 5787 broad.mit.edu 37 12 70949684 70949684 + Silent SNP C T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr12:70949684C>T uc001swb.3 - 17 4335 c.4305G>A c.(4303-4305)GAG>GAA p.E1435E PTPRB_uc010sto.1_Silent_p.E1345E|PTPRB_uc010stp.1_Silent_p.E1345E|PTPRB_uc001swc.3_Silent_p.E1653E|PTPRB_uc001swa.3_Silent_p.E1565E NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1435 Fibronectin type-III 16.|Extracellular (Potential). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CTTCAACCACCTCGCTGGTCA 0.527 PABPC3 5042 broad.mit.edu 37 13 25671682 25671682 + Missense_Mutation SNP G A A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr13:25671682G>A uc001upy.2 + 1 1407 c.1346G>A c.(1345-1347)CGC>CAC p.R449H NM_030979 NP_112241 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 449 mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding ovary(3)|skin(1) 4 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) AGTGCTATCCGCCCAGGTGCT 0.502 ATP8A2 51761 broad.mit.edu 37 13 26273468 26273468 + Missense_Mutation SNP C T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr13:26273468C>T uc001uqk.2 + 25 2511 c.2369C>T c.(2368-2370)GCG>GTG p.A790V ATP8A2_uc010tdi.1_Missense_Mutation_p.A750V|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.A340V NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter-like, 750 Cytoplasmic (Potential). ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|large_intestine(1)|skin(1) 4 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) TCGTGCAAAGCGGTCATATGC 0.522 RNASEH2B 79621 broad.mit.edu 37 13 51530575 51530575 + Missense_Mutation SNP G C C TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr13:51530575G>C uc001vfa.3 + 11 1225 c.904G>C c.(904-906)GGG>CGG p.G302R RNASEH2B_uc001vfb.3_Intron NM_024570 NP_078846 Q5TBB1 RNH2B_HUMAN ribonuclease H2, subunit B isoform 1 302 RNA catabolic process nucleus|ribonuclease H2 complex 0 Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;9e-08) TACCTTTTTTGGGGTAAAAAA 0.299 PCDH20 64881 broad.mit.edu 37 13 61985658 61985658 + Silent SNP T C C TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr13:61985658T>C uc001vid.3 - 2 2938 c.2574A>G c.(2572-2574)AGA>AGG p.R858R PCDH20_uc010thj.1_Silent_p.R858R NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN protocadherin 20 831 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|breast(1)|central_nervous_system(1) 6 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) CTGGTTCTTTTCTTAAAAGAC 0.408 MYO16 23026 broad.mit.edu 37 13 109859100 109859100 + Silent SNP T C C TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr13:109859100T>C uc001vqt.1 + 35 5619 c.5493T>C c.(5491-5493)CCT>CCC p.P1831P MYO16_uc010agk.1_Silent_p.P1853P NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 1831 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) CCCCACCACCTTGCAAGAAGC 0.597 FKBP3 2287 broad.mit.edu 37 14 45587256 45587256 + Missense_Mutation SNP C T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr14:45587256C>T uc010tqf.1 - 6 668 c.595G>A c.(595-597)GGA>AGA p.G199R NM_002013 NP_002004 Q00688 FKBP3_HUMAN FK506 binding protein 3, 25kDa 199 PPIase FKBP-type. protein folding membrane|nucleus FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity 0 CCTTTCTTTCCGTAAGCCCAT 0.378 BCL8 606 broad.mit.edu 37 15 20876531 20876531 + Missense_Mutation SNP C A A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr15:20876531C>A uc010tze.1 - 2 289 c.82G>T c.(82-84)GGT>TGT p.G28C BCL8_uc010tzd.1_RNA NR_027992 RecName: Full=Putative protein BCL8; 0 TGAGATAAACCATCAAGGTAT 0.343 SPINT1 6692 broad.mit.edu 37 15 41146113 41146113 + Missense_Mutation SNP C T T rs145193299 TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr15:41146113C>T uc001zna.2 + 5 1151 c.947C>T c.(946-948)GCG>GTG p.A316V SPINT1_uc001znb.2_Intron|SPINT1_uc001znc.2_Intron|SPINT1_uc010ucs.1_Missense_Mutation_p.A316V NM_181642 NP_857593 O43278 SPIT1_HUMAN serine peptidase inhibitor, Kunitz type 1 316 extracellular region|membrane fraction protein binding|serine-type endopeptidase inhibitor activity ovary(1) 1 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) GGGGCTCAGGCGACTTTCCCC 0.592 PLA2G4D 283748 broad.mit.edu 37 15 42364081 42364081 + Silent SNP G A A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr15:42364081G>A uc001zox.2 - 15 1559 c.1464C>T c.(1462-1464)GTC>GTT p.V488V NM_178034 NP_828848 Q86XP0 PA24D_HUMAN phospholipase A2, group IVD 488 PLA2c. phospholipid catabolic process cytoplasmic vesicle membrane|cytosol metal ion binding|phospholipase A2 activity large_intestine(1)|skin(1) 2 all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245) OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06) TCAGGAAACCGACCTCATAGG 0.607 ATP8B4 79895 broad.mit.edu 37 15 50211036 50211036 + Nonsense_Mutation SNP C A A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr15:50211036C>A uc001zxu.2 - 19 2177 c.2035G>T c.(2035-2037)GAA>TAA p.E679* ATP8B4_uc010ber.2_Nonsense_Mutation_p.E552*|ATP8B4_uc010ufd.1_Nonsense_Mutation_p.E489*|ATP8B4_uc010ufe.1_RNA NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN ATPase class I type 8B member 4 679 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity skin(3)|ovary(2)|breast(2)|large_intestine(1) 8 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) TTCAAGTTACCTTGTTTGTCT 0.318 ADAM10 102 broad.mit.edu 37 15 58925426 58925426 + Missense_Mutation SNP G A A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr15:58925426G>A uc002afd.1 - 9 1589 c.1145C>T c.(1144-1146)GCT>GTT p.A382V ADAM10_uc010bgc.1_RNA|ADAM10_uc010ugz.1_Missense_Mutation_p.A81V|ADAM10_uc002afe.1_Intron NM_001110 NP_001101 O14672 ADA10_HUMAN ADAM metallopeptidase domain 10 precursor 382 Peptidase M12B.|Extracellular (Potential). cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding skin(2) 2 GBM - Glioblastoma multiforme(80;0.202) AACTTCGTGAGCAAAAGTAAT 0.328 TMEM202 338949 broad.mit.edu 37 15 72700088 72700088 + Missense_Mutation SNP G A A rs143076809 TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr15:72700088G>A uc002auq.2 + 5 676 c.676G>A c.(676-678)GTC>ATC p.V226I TMEM202_uc002aur.2_RNA NM_001080462 NP_001073931 A6NGA9 TM202_HUMAN transmembrane protein 202 226 integral to membrane central_nervous_system(1)|skin(1) 2 TGATGAAAACGTCACTGTGAT 0.478 SCAMP5 192683 broad.mit.edu 37 15 75305137 75305137 + Missense_Mutation SNP C T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr15:75305137C>T uc002azk.1 + 3 289 c.127C>T c.(127-129)CTC>TTC p.L43F SCAMP5_uc002azl.1_Missense_Mutation_p.L43F|SCAMP5_uc002azm.1_Missense_Mutation_p.L43F|SCAMP5_uc002azn.1_Missense_Mutation_p.L43F|SCAMP5_uc010uly.1_Missense_Mutation_p.P24L NM_138967 NP_620417 Q8TAC9 SCAM5_HUMAN secretory carrier membrane protein 5 43 Helical; (Potential). exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane protein binding ovary(1) 1 CCTCTACTACCTCTGGATGTG 0.607 CORO1A 11151 broad.mit.edu 37 16 30198720 30198720 + Silent SNP C T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr16:30198720C>T uc002dww.2 + 6 776 c.654C>T c.(652-654)CAC>CAT p.H218H uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|CORO1A_uc010bzq.2_Silent_p.H218H|CORO1A_uc010bzr.2_Silent_p.H218H|CORO1A_uc002dwx.2_Silent_p.H112H|CORO1A_uc002dwy.1_Silent_p.H62H|LOC606724_uc002dwz.1_5'Flank NM_007074 NP_009005 P31146 COR1A_HUMAN coronin, actin binding protein, 1A 218 WD 5. cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity 0 ACCGTCCCCACGAGGGGACCC 0.667 ARMC5 79798 broad.mit.edu 37 16 31471307 31471307 + Silent SNP C T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr16:31471307C>T uc002ecc.2 + 1 991 c.462C>T c.(460-462)GGC>GGT p.G154G ARMC5_uc010vfn.1_Silent_p.G249G|ARMC5_uc010vfo.1_Silent_p.G186G|ARMC5_uc002eca.3_Silent_p.G154G|ARMC5_uc010vfp.1_Silent_p.G154G|ARMC5_uc002ecb.2_Silent_p.G154G NM_001105247 NP_001098717 Q96C12 ARMC5_HUMAN armadillo repeat containing 5 isoform a 154 ARM 1. binding pancreas(1) 1 GACTCGGAGGCATACTCCCTT 0.597 LRRC50 123872 broad.mit.edu 37 16 84203678 84203678 + Missense_Mutation SNP C T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr16:84203678C>T uc002fhl.3 + 8 1425 c.1244C>T c.(1243-1245)ACC>ATC p.T415I LRRC50_uc010vnw.1_Missense_Mutation_p.T179I NM_178452 NP_848547 Q8NEP3 DAAF1_HUMAN leucine rich repeat containing 50 415 Pro-rich. axonemal dynein complex assembly|cilium morphogenesis cilium axoneme|cytoplasm|spindle pole dynein binding 0 CCAGAGGGGACCCTCCCAGCT 0.617 Kartagener_syndrome TP53 7157 broad.mit.edu 37 17 7578268 7578268 + Missense_Mutation SNP A C C TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr17:7578268A>C uc002gim.2 - 6 775 c.581T>G c.(580-582)CTT>CGT p.L194R TP53_uc002gig.1_Missense_Mutation_p.L194R|TP53_uc002gih.2_Missense_Mutation_p.L194R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.L62R|TP53_uc010cng.1_Missense_Mutation_p.L62R|TP53_uc002gii.1_Missense_Mutation_p.L62R|TP53_uc010cnh.1_Missense_Mutation_p.L194R|TP53_uc010cni.1_Missense_Mutation_p.L194R|TP53_uc002gij.2_Missense_Mutation_p.L194R|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.L101R|TP53_uc002gio.2_Missense_Mutation_p.L62R|TP53_uc010vug.1_Missense_Mutation_p.L155R NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 194 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). L -> H (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> F (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> V (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.L194R(31)|p.L194F(16)|p.L194P(8)|p.0?(7)|p.L194H(5)|p.L194L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191fs*53(2)|p.L194fs*15(2)|p.K164_P219del(1)|p.A189fs*53(1)|p.L194V(1)|p.L194fs*14(1)|p.P191fs*6(1)|p.I195fs*52(1)|p.H193_I195delHLI(1)|p.H193_I195>AP(1)|p.L194I(1)|p.L194fs*52(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) CACTCGGATAAGATGCTGAGG 0.552 111 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) TP53 7157 broad.mit.edu 37 17 7578542 7578542 + Missense_Mutation SNP G A A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr17:7578542G>A uc002gim.2 - 5 582 c.388C>T c.(388-390)CTC>TTC p.L130F TP53_uc002gig.1_Missense_Mutation_p.L130F|TP53_uc002gih.2_Missense_Mutation_p.L130F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Missense_Mutation_p.L130F|TP53_uc010cni.1_Missense_Mutation_p.L130F|TP53_uc002gij.2_Missense_Mutation_p.L130F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.L37F|TP53_uc002gio.2_5'UTR|TP53_uc010vug.1_Missense_Mutation_p.L91F NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 130 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). L -> H (in sporadic cancers; somatic mutation).|L -> F (in sporadic cancers; somatic mutation).|L -> I (in a sporadic cancer; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).|L -> P (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.L130V(11)|p.L130F(7)|p.L130R(7)|p.0?(7)|p.Y126_K132delYSPALNK(6)|p.L130L(4)|p.L130H(3)|p.Y126_N131delYSPALN(3)|p.L130fs*19(2)|p.L130fs*41(2)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.A129_L130insXX(1)|p.A129_N131delALN(1)|p.L130P(1)|p.V73fs*9(1)|p.Y126fs*18(1)|p.L130fs*39(1)|p.L130fs*16(1)|p.A129_K132delALNK(1)|p.L130_M133delLNKM(1)|p.N131fs*27(1)|p.P13fs*18(1)|p.S127fs*36(1)|p.L130del(1)|p.L130fs*40(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) ATCTTGTTGAGGGCAGGGGAG 0.552 111 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) RCVRN 5957 broad.mit.edu 37 17 9808118 9808118 + Missense_Mutation SNP A G G TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr17:9808118A>G uc002gme.1 - 1 567 c.380T>C c.(379-381)ATG>ACG p.M127T NM_002903 NP_002894 P35243 RECO_HUMAN recoverin 127 EF-hand 3. visual perception calcium ion binding|calcium sensitive guanylate cyclase activator activity 0 GAGACTGACCATGACGATCTC 0.642 MYH4 4622 broad.mit.edu 37 17 10358321 10358321 + Missense_Mutation SNP C T T rs144778193 by1000genomes TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr17:10358321C>T uc002gmn.2 - 21 2483 c.2372G>A c.(2371-2373)CGC>CAC p.R791H uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 791 IQ. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 GGCTTGAGTGCGCGTGATGAG 0.463 MYH1 4619 broad.mit.edu 37 17 10419368 10419368 + Missense_Mutation SNP T A A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr17:10419368T>A uc002gmo.2 - 5 474 c.380A>T c.(379-381)AAC>ATC p.N127I uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 127 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 CTTGTAGGGGTTGACAGTGAC 0.488 ACCN1 40 broad.mit.edu 37 17 31341024 31341024 + Missense_Mutation SNP G T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr17:31341024G>T uc002hhu.2 - 10 1772 c.1498C>A c.(1498-1500)CTG>ATG p.L500M ACCN1_uc002hht.2_Missense_Mutation_p.L551M NM_001094 NP_001085 Q16515 ACCN1_HUMAN amiloride-sensitive cation channel 1, neuronal 500 Cytoplasmic (By similarity). central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Breast(31;0.042)|Ovarian(249;0.202) UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215) Amiloride(DB00594) GTCGTCTGCAGGGGCACGTTC 0.557 ERBB2 2064 broad.mit.edu 37 17 37866667 37866667 + Silent SNP G A A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr17:37866667G>A uc002hso.2 + 7 1072 c.834G>A c.(832-834)ACG>ACA p.T278T ERBB2_uc002hsm.2_Silent_p.T248T|ERBB2_uc010cwa.2_Silent_p.T263T|ERBB2_uc002hsp.2_Silent_p.T81T|ERBB2_uc010cwb.2_Silent_p.T278T|ERBB2_uc010wek.1_Intron|ERBB2_uc002hsl.2_Silent_p.T248T|ERBB2_uc002hsn.1_Silent_p.T278T NM_004448 NP_004439 P04626 ERBB2_HUMAN erbB-2 isoform a 278 Extracellular (Potential). cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1) 143 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) ACACAGACACGTTTGAGTCCA 0.582 1 A|Mis|O breast|ovarian|other tumour types|NSCLC|gastric TCGA GBM(5;<1E-08) DNAH17 8632 broad.mit.edu 37 17 76457727 76457727 + Missense_Mutation SNP C T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr17:76457727C>T uc010dhp.1 - 3 460 c.238G>A c.(238-240)GCA>ACA p.A80T DNAH17_uc002jvs.2_RNA SubName: Full=DNAH17 variant protein; Flags: Fragment; ovary(6)|breast(2)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) AGTTGGTCTGCGCTCTCATTC 0.527 DSG3 1830 broad.mit.edu 37 18 29046572 29046572 + Silent SNP C T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr18:29046572C>T uc002kws.2 + 11 1600 c.1491C>T c.(1489-1491)CTC>CTT p.L497L NM_001944 NP_001935 P32926 DSG3_HUMAN desmoglein 3 preproprotein 497 Cadherin 4.|Extracellular (Potential). cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding skin(4)|ovary(3)|lung(1)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CAGCTGTCCTCGAAAAAGATG 0.418 DSG3 1830 broad.mit.edu 37 18 29055684 29055684 + Missense_Mutation SNP G A A rs148716637 TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr18:29055684G>A uc002kws.2 + 16 2570 c.2461G>A c.(2461-2463)GCA>ACA p.A821T DSG3_uc002kwt.2_Missense_Mutation_p.A103T NM_001944 NP_001935 P32926 DSG3_HUMAN desmoglein 3 preproprotein 821 Cytoplasmic (Potential). cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding skin(4)|ovary(3)|lung(1)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TAATGAAGGCGCAGATGCCAC 0.468 SERPINB12 89777 broad.mit.edu 37 18 61232706 61232706 + Missense_Mutation SNP C T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr18:61232706C>T uc010xen.1 + 6 674 c.674C>T c.(673-675)ACG>ATG p.T225M SERPINB12_uc010xeo.1_Missense_Mutation_p.T245M NM_080474 NP_536722 Q96P63 SPB12_HUMAN serine (or cysteine) proteinase inhibitor, clade 225 negative regulation of protein catabolic process|regulation of proteolysis cytoplasm enzyme binding|serine-type endopeptidase inhibitor activity 0 AAGATGATGACGCAAAAAGGC 0.488 VMAC 400673 broad.mit.edu 37 19 5909016 5909016 + Missense_Mutation SNP G A A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr19:5909016G>A uc002mds.3 + 2 423 c.373G>A c.(373-375)GAG>AAG p.E125K NM_001017921 NP_001017921 Q2NL98 VMAC_HUMAN vimentin-type IF-associated coiled-coil protein 125 cytoplasm 0 GGCTGAGGCTGAGCGCCTGGG 0.721 LASS4 79603 broad.mit.edu 37 19 8316117 8316117 + Missense_Mutation SNP C T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr19:8316117C>T uc002mjg.2 + 3 477 c.157C>T c.(157-159)CGC>TGC p.R53C LASS4_uc002mjh.2_Missense_Mutation_p.R2C|LASS4_uc002mji.2_Intron|LASS4_uc010dvz.2_Missense_Mutation_p.R53C NM_024552 NP_078828 Q9HA82 CERS4_HUMAN LAG1 homolog, ceramide synthase 4 53 endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity ovary(1) 1 CCTGGCCATGCGCCTTGCCTT 0.627 MUC16 94025 broad.mit.edu 37 19 8966765 8966765 + Silent SNP C T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr19:8966765C>T uc002mkp.2 - 81 43392 c.43188G>A c.(43186-43188)TCG>TCA p.S14396S MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.S1196S|MUC16_uc010xki.1_RNA NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GAGCCAGTGGCGAGAAGTTAC 0.527 MUC16 94025 broad.mit.edu 37 19 9057573 9057573 + Missense_Mutation SNP G A A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr19:9057573G>A uc002mkp.2 - 3 30077 c.29873C>T c.(29872-29874)ACC>ATC p.T9958I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 9960 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 ACTTTTTTGGGTGGTGATGGT 0.488 ZNF443 10224 broad.mit.edu 37 19 12543219 12543219 + Missense_Mutation SNP G T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr19:12543219G>T uc002mtu.2 - 3 361 c.163C>A c.(163-165)CAA>AAA p.Q55K NM_005815 NP_005806 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 55 KRAB. induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 TATCTATATTGATCTTCAATG 0.294 OR7A17 26333 broad.mit.edu 37 19 14991689 14991689 + Missense_Mutation SNP C A A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr19:14991689C>A uc010xob.1 - 1 479 c.479G>T c.(478-480)AGC>ATC p.S160I NM_030901 NP_112163 O14581 OR7AH_HUMAN olfactory receptor, family 7, subfamily A, 160 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Ovarian(108;0.203) TACCATTAAGCTTTGTGACAA 0.483 ZNF208 7757 broad.mit.edu 37 19 22155210 22155210 + Missense_Mutation SNP G T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr19:22155210G>T uc002nqp.2 - 5 2475 c.2326C>A c.(2326-2328)CTT>ATT p.L776I ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) TGATAACTAAGGGTTGAGGGC 0.363 MAG 4099 broad.mit.edu 37 19 35801000 35801000 + Silent SNP C T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr19:35801000C>T uc002nyy.1 + 8 1604 c.1455C>T c.(1453-1455)CGC>CGT p.R485R MAG_uc002nyx.1_Silent_p.R485R|MAG_uc010eds.1_Silent_p.R460R|MAG_uc002nyz.1_Silent_p.R485R NM_002361 NP_002352 P20916 MAG_HUMAN myelin associated glycoprotein isoform a 485 Ig-like C2-type 4.|Extracellular (Potential). blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane sugar binding breast(3)|lung(2)|central_nervous_system(1)|skin(1) 7 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Renal(1328;0.242) Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) CCCCGCCCCGCGTCATCTGCA 0.697 CGB7 94027 broad.mit.edu 37 19 49557640 49557640 + Nonsense_Mutation SNP G A A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr19:49557640G>A uc002pmd.2 - 3 771 c.406C>T c.(406-408)CAG>TAG p.Q136* CGB_uc010yad.1_Intron|CGB8_uc002pmc.2_Intron|CGB7_uc002pme.2_Nonsense_Mutation_p.Q136* NM_033142 NP_149133 P01233 CGHB_HUMAN chorionic gonadotropin, beta polypeptide 7 136 apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction extracellular region|soluble fraction hormone activity 0 all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) Choriogonadotropin alfa(DB00097) GAGGAGGCCTGGAAGCGGGGG 0.647 ZNF28 7576 broad.mit.edu 37 19 53304049 53304049 + Missense_Mutation SNP G T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr19:53304049G>T uc002qad.2 - 4 1169 c.1049C>A c.(1048-1050)ACT>AAT p.T350N ZNF28_uc002qac.2_Missense_Mutation_p.T297N|ZNF28_uc010eqe.2_Missense_Mutation_p.T296N NM_006969 NP_008900 P17035 ZNF28_HUMAN zinc finger protein 28 350 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) TTTCTCTCCAGTGTGAATTAT 0.373 NLRP7 199713 broad.mit.edu 37 19 55451268 55451268 + Missense_Mutation SNP T C C TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr19:55451268T>C uc002qih.3 - 4 995 c.919A>G c.(919-921)AGG>GGG p.R307G NLRP7_uc002qig.3_Missense_Mutation_p.R307G|NLRP7_uc002qii.3_Missense_Mutation_p.R307G|NLRP7_uc010esk.2_Missense_Mutation_p.R307G|NLRP7_uc010esl.2_Missense_Mutation_p.R335G NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 307 NACHT. ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) TGGAGGTCCCTCAGTGCCCTG 0.617 NLRP5 126206 broad.mit.edu 37 19 56549462 56549462 + Missense_Mutation SNP T C C TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr19:56549462T>C uc002qmj.2 + 10 2687 c.2687T>C c.(2686-2688)CTG>CCG p.L896P NLRP5_uc002qmi.2_Missense_Mutation_p.L877P NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 896 LRR 7. mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TCCCCCAGCCTGAAATCTCTG 0.547 NCOA1 8648 broad.mit.edu 37 2 24929877 24929877 + Missense_Mutation SNP C T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr2:24929877C>T uc002rfk.2 + 11 1796 c.1538C>T c.(1537-1539)TCG>TTG p.S513L NCOA1_uc010eye.2_Missense_Mutation_p.S513L|NCOA1_uc002rfi.2_Missense_Mutation_p.S362L|NCOA1_uc002rfj.2_Missense_Mutation_p.S513L|NCOA1_uc002rfl.2_Missense_Mutation_p.S513L NM_003743 NP_003734 Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 isoform 1 513 Interaction with STAT3.|Ser-rich. PAX3/NCOA1(8) soft_tissue(8)|ovary(1)|lung(1)|skin(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCTAATATTTCGACATTAAGC 0.418 T PAX3 alveolar rhadomyosarcoma FAM179A 165186 broad.mit.edu 37 2 29268218 29268218 + Silent SNP T A A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr2:29268218T>A uc010ezl.2 + 19 3015 c.2664T>A c.(2662-2664)GCT>GCA p.A888A FAM179A_uc010ymm.1_Silent_p.A833A|FAM179A_uc002rmr.3_Silent_p.A415A|FAM179A_uc002rms.1_Silent_p.A186A NM_199280 NP_954974 Q6ZUX3 F179A_HUMAN hypothetical protein LOC165186 888 binding ovary(3)|skin(1) 4 CAGCGCTTGCTGGGCGAGTGC 0.627 CYP1B1 1545 broad.mit.edu 37 2 38302345 38302345 + Missense_Mutation SNP C T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr2:38302345C>T uc002rqo.2 - 3 590 c.187G>A c.(187-189)GCG>ACG p.A63T NM_000104 NP_000095 Q16678 CP1B1_HUMAN cytochrome P450, family 1, subfamily B, 63 visual perception|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding ovary(1)|central_nervous_system(1) 2 all_hematologic(82;0.21) Estrone(DB00655) ACCGCCGCCGCGTTTCCGATC 0.721 ALMS1 7840 broad.mit.edu 37 2 73651879 73651879 + Silent SNP T A A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr2:73651879T>A uc002sje.1 + 6 1200 c.1089T>A c.(1087-1089)GCT>GCA p.A363A ALMS1_uc002sjf.1_Silent_p.A320A NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 362 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 ACAATTTAGCTGATAAAGATC 0.358 DQX1 165545 broad.mit.edu 37 2 74747143 74747143 + Missense_Mutation SNP C T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr2:74747143C>T uc010yrw.1 - 9 1679 c.1514G>A c.(1513-1515)CGT>CAT p.R505H DQX1_uc002smc.2_Missense_Mutation_p.R66H NM_133637 NP_598376 Q8TE96 DQX1_HUMAN DEAQ box polypeptide 1 (RNA-dependent ATPase) 505 nucleus ATP binding|helicase activity|nucleic acid binding ovary(2) 2 GAGTGGAGGACGGGTAAACCC 0.527 MRPL30 51263 broad.mit.edu 37 2 99811636 99811636 + Missense_Mutation SNP G C C TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr2:99811636G>C uc002szu.2 + 5 499 c.337G>C c.(337-339)GTT>CTT p.V113L MRPL30_uc002szl.1_RNA|MRPL30_uc002szr.2_Missense_Mutation_p.V113L|MRPL30_uc002szt.1_RNA|MRPL30_uc002szv.2_Missense_Mutation_p.V113L NM_145213 NP_660214 Q8TCC3 RM30_HUMAN RecName: Full=39S ribosomal protein L30, mitochondrial; Short=L30mt; AltName: Full=MRP-L30; AltName: Full=MRP-L28; Flags: Precursor; 113 translation mitochondrion|ribosome structural constituent of ribosome ovary(1) 1 ATTGAAAGTAGTTAAGCATTT 0.333 IL1F6 27179 broad.mit.edu 37 2 113763644 113763644 + Missense_Mutation SNP G A A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr2:113763644G>A uc010yxr.1 + 2 104 c.104G>A c.(103-105)AGG>AAG p.R35K NM_014440 NP_055255 Q9UHA7 IL36A_HUMAN interleukin 1 family, member 6 (epsilon) 35 immune response|inflammatory response extracellular space cytokine activity|interleukin-1 receptor binding 0 GCAGTCCCGAGGAAGGACCGT 0.512 THSD7B 80731 broad.mit.edu 37 2 138420998 138420998 + Missense_Mutation SNP T C C TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr2:138420998T>C uc002tva.1 + 25 4417 c.4417T>C c.(4417-4419)TCA>CCA p.S1473P THSD7B_uc010zbj.1_RNA NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) GATAATGAAATCAAATGGTTT 0.383 XIRP2 129446 broad.mit.edu 37 2 168106391 168106391 + Missense_Mutation SNP G A A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr2:168106391G>A uc002udx.2 + 8 8507 c.8489G>A c.(8488-8490)CGA>CAA p.R2830Q XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.R2655Q|XIRP2_uc010fpq.2_Missense_Mutation_p.R2608Q|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.R176Q NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2655 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 ATGATTGGTCGAAAAGAAGAG 0.398 TTN 7273 broad.mit.edu 37 2 179431720 179431720 + Missense_Mutation SNP A G G TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr2:179431720A>G uc010zfg.1 - 275 71659 c.71435T>C c.(71434-71436)ATG>ACG p.M23812T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.M17507T|TTN_uc010zfi.1_Missense_Mutation_p.M17440T|TTN_uc010zfj.1_Missense_Mutation_p.M17315T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 24739 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) TGGATTTTTCATTAGTACTGG 0.403 TTN 7273 broad.mit.edu 37 2 179456867 179456867 + Missense_Mutation SNP C T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr2:179456867C>T uc010zfg.1 - 251 52284 c.52060G>A c.(52060-52062)GCC>ACC p.A17354T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A11049T|TTN_uc010zfi.1_Missense_Mutation_p.A10982T|TTN_uc010zfj.1_Missense_Mutation_p.A10857T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 18281 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) GACCACTGGGCGCTGGCAACA 0.448 TTN 7273 broad.mit.edu 37 2 179579856 179579856 + Missense_Mutation SNP C T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr2:179579856C>T uc010zfg.1 - 87 22549 c.22325G>A c.(22324-22326)GGC>GAC p.G7442D TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G4103D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 8369 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) GTACTTCTTGCCGCTCCTAAG 0.443 SMARCAL1 50485 broad.mit.edu 37 2 217329391 217329391 + Splice_Site SNP G A A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr2:217329391G>A uc002vgc.3 + 13 2471 c.2141_splice c.e13+1 p.I714_splice SMARCAL1_uc010fvf.2_Splice_Site|SMARCAL1_uc002vgd.3_Splice_Site_p.I714_splice|SMARCAL1_uc010fvg.2_Splice_Site_p.I692_splice NM_014140 NP_054859 Q9NZC9 SMAL1_HUMAN SWI/SNF-related matrix-associated chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity ovary(3)|breast(3)|skin(1) 7 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) CATCTGTCATGTAAGTGGTCA 0.363 Schimke_Immuno-Osseous_Dysplasia BPIL3 128859 broad.mit.edu 37 20 31630672 31630672 + Missense_Mutation SNP C A A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr20:31630672C>A uc010zuc.1 + 13 1240 c.1240C>A c.(1240-1242)CCA>ACA p.P414T BPIL3_uc010zud.1_Missense_Mutation_p.P353T NM_174897 NP_777557 Q8NFQ5 BPIL3_HUMAN bactericidal/permeability-increasing 414 extracellular region lipid binding ovary(1)|pancreas(1) 2 AGCCTACATCCCAGTTGTCAA 0.473 CBFA2T2 9139 broad.mit.edu 37 20 32232172 32232172 + Missense_Mutation SNP G A A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr20:32232172G>A uc002wzg.1 + 12 2072 c.1535G>A c.(1534-1536)CGC>CAC p.R512H CBFA2T2_uc010zug.1_Missense_Mutation_p.R286H|CBFA2T2_uc002wze.1_Missense_Mutation_p.R503H|CBFA2T2_uc002wzf.1_RNA|CBFA2T2_uc002wzh.1_Missense_Mutation_p.R483H|CBFA2T2_uc002wzi.1_RNA|CBFA2T2_uc002wzj.1_RNA|CBFA2T2_uc002wzk.1_Missense_Mutation_p.R60H NM_005093 NP_005084 O43439 MTG8R_HUMAN core-binding factor, runt domain, alpha subunit 512 nucleus protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding pancreas(1)|skin(1) 2 AACTGTGGCCGCAAAGCCAGC 0.542 TSHZ2 128553 broad.mit.edu 37 20 51870661 51870661 + Missense_Mutation SNP G A A rs141167641 by1000genomes TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr20:51870661G>A uc002xwo.2 + 2 1620 c.664G>A c.(664-666)GCG>ACG p.A222T NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 222 C2H2-type 1. multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A222T(1) ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) ACAGTGCAGCGCGGCCTATGA 0.562 GRIK1 2897 broad.mit.edu 37 21 30949385 30949385 + Missense_Mutation SNP C G G TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr21:30949385C>G uc002yno.1 - 14 2493 c.2029G>C c.(2029-2031)GAG>CAG p.E677Q GRIK1_uc002ynn.2_Missense_Mutation_p.E662Q|GRIK1_uc011acs.1_Missense_Mutation_p.E677Q|GRIK1_uc011act.1_Missense_Mutation_p.E538Q NM_000830 NP_000821 P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 677 Extracellular (Potential). central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity large_intestine(1)|ovary(1)|skin(1) 3 L-Glutamic Acid(DB00142)|Topiramate(DB00273) TCCATTCTCTCTACTGTCAAG 0.448 C21orf29 54084 broad.mit.edu 37 21 45949800 45949800 + Missense_Mutation SNP T C C TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr21:45949800T>C uc002zfe.1 - 5 737 c.671A>G c.(670-672)GAC>GGC p.D224G C21orf29_uc010gpv.1_Missense_Mutation_p.D156G NM_144991 NP_659428 Q8WU66 TSEAR_HUMAN chromosome 21 open reading frame 29 precursor 224 cell adhesion extracellular region structural molecule activity 0 TGGGGTGGCGTCTGAGCCCGG 0.677 ALS2CL 259173 broad.mit.edu 37 3 46720751 46720751 + Silent SNP G A A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr3:46720751G>A uc003cqa.1 - 15 1765 c.1575C>T c.(1573-1575)GAC>GAT p.D525D ALS2CL_uc003cpx.1_5'Flank|ALS2CL_uc003cpy.1_5'Flank|ALS2CL_uc003cpz.1_Silent_p.D40D|ALS2CL_uc003cqb.1_Silent_p.D525D|ALS2CL_uc003cqc.1_RNA NM_147129 NP_667340 Q60I27 AL2CL_HUMAN ALS2 C-terminal like isoform 1 525 MORN 7. endosome organization|regulation of Rho protein signal transduction GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) ACAGGGAGTCGTCTTCAGAGA 0.627 MORC1 27136 broad.mit.edu 37 3 108778663 108778663 + Nonsense_Mutation SNP C A A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr3:108778663C>A uc003dxl.2 - 12 1108 c.1021G>T c.(1021-1023)GAG>TAG p.E341* MORC1_uc011bhn.1_Nonsense_Mutation_p.E341* NM_014429 NP_055244 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 341 Potential. cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding ovary(3)|skin(3)|breast(2) 8 CTTTGTTTCTCTTTAAGATTC 0.368 GOLGB1 2804 broad.mit.edu 37 3 121410932 121410932 + Missense_Mutation SNP C T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr3:121410932C>T uc003eei.3 - 14 7390 c.7264G>A c.(7264-7266)GAG>AAG p.E2422K GOLGB1_uc010hrc.2_Missense_Mutation_p.E2427K|GOLGB1_uc003eej.3_Missense_Mutation_p.E2388K NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 2422 Cytoplasmic (Potential).|Potential.|Poly-Glu. Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) ATATTCTCCTCTTCCTCCTGG 0.398 CASR 846 broad.mit.edu 37 3 122004023 122004023 + Silent SNP C T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr3:122004023C>T uc003eev.3 + 7 3594 c.3222C>T c.(3220-3222)AAC>AAT p.N1074N CASR_uc003eew.3_Silent_p.N1084N NM_000388 NP_000379 P41180 CASR_HUMAN calcium-sensing receptor precursor 1074 Cytoplasmic (Potential). anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(2)|upper_aerodigestive_tract(1) 7 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) TTACAGAAAACGTAGTGAATT 0.522 TLR1 7096 broad.mit.edu 37 4 38798595 38798595 + Missense_Mutation SNP G A A rs144775976 byFrequency TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr4:38798595G>A uc003gtl.2 - 4 2132 c.1858C>T c.(1858-1860)CGG>TGG p.R620W NM_003263 NP_003254 Q15399 TLR1_HUMAN toll-like receptor 1 precursor 620 Cytoplasmic (Potential). cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex protein heterodimerization activity|transmembrane receptor activity lung(2)|skin(2)|prostate(1) 5 GCCCTGCGCCGGGTCTGGGTC 0.517 PDGFRA 5156 broad.mit.edu 37 4 55138611 55138611 + Missense_Mutation SNP G A A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr4:55138611G>A uc003han.3 + 9 1619 c.1288G>A c.(1288-1290)GGA>AGA p.G430R PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.G324R|PDGFRA_uc003ham.2_RNA NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha 430 Ig-like C2-type 5.|Extracellular (Potential). cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1) 674 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) CTCAACTGGGGGACAGACGGT 0.473 Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) PDGFRA 5156 broad.mit.edu 37 4 55138664 55138664 + Missense_Mutation SNP G C C TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr4:55138664G>C uc003han.3 + 9 1672 c.1341G>C c.(1339-1341)TGG>TGC p.W447C PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.W341C|PDGFRA_uc003ham.2_RNA NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha 447 Ig-like C2-type 5.|Extracellular (Potential). cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1) 674 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) ATATTGAGTGGATGATATGCA 0.438 Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) FRAS1 80144 broad.mit.edu 37 4 79418093 79418093 + Silent SNP C A A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr4:79418093C>A uc003hlb.2 + 60 9533 c.9093C>A c.(9091-9093)ATC>ATA p.I3031I FRAS1_uc003hlc.1_Silent_p.I33I NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3026 Calx-beta 5.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 TGGCCACCATCACCATATCCA 0.408 LARP7 51574 broad.mit.edu 37 4 113568448 113568448 + Missense_Mutation SNP G A A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr4:113568448G>A uc003iay.2 + 7 1018 c.740G>A c.(739-741)AGC>AAC p.S247N LARP7_uc003iaz.2_Missense_Mutation_p.S254N|LARP7_uc003iba.2_Missense_Mutation_p.S168N|LARP7_uc003ibb.2_Missense_Mutation_p.S247N NM_016648 NP_057732 Q4G0J3 LARP7_HUMAN La ribonucleoprotein domain family, member 7 247 Lys-rich. RNA processing nucleoplasm|ribonucleoprotein complex nucleotide binding|RNA binding ovary(3) 3 Ovarian(17;0.0443)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000603) agcaacaCCAGCATCAGTAAA 0.234 ARFIP1 27236 broad.mit.edu 37 4 153809448 153809448 + Missense_Mutation SNP G A A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr4:153809448G>A uc003imz.2 + 8 1231 c.955G>A c.(955-957)GAA>AAA p.E319K ARFIP1_uc003inb.2_Missense_Mutation_p.E287K|ARFIP1_uc003ina.2_Missense_Mutation_p.E287K|ARFIP1_uc003inc.2_Missense_Mutation_p.E319K|ARFIP1_uc011cij.1_Missense_Mutation_p.E139K NM_001025595 NP_001020766 P53367 ARFP1_HUMAN ADP-ribosylation factor interacting protein 1 319 AH. intracellular protein transport|regulation of protein secretion cytosol|Golgi membrane ovary(1) 1 all_hematologic(180;0.093) GAAATTTCTAGAAGAAAATAA 0.353 ACCN5 51802 broad.mit.edu 37 4 156764950 156764950 + Silent SNP G A A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr4:156764950G>A uc003ipe.1 - 5 791 c.744C>T c.(742-744)TTC>TTT p.F248F NM_017419 NP_059115 Q9NY37 ACCN5_HUMAN amiloride-sensitive cation channel 5, 248 Extracellular (Potential). integral to membrane|plasma membrane ovary(2)|skin(1) 3 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0464)|Kidney(143;0.058)|COAD - Colon adenocarcinoma(41;0.141) CAGCATCAACGAAACCAAGGG 0.413 FSTL5 56884 broad.mit.edu 37 4 162459448 162459448 + Silent SNP A G G TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr4:162459448A>G uc003iqh.2 - 10 1618 c.1182T>C c.(1180-1182)AAT>AAC p.N394N FSTL5_uc003iqi.2_Silent_p.N393N|FSTL5_uc010iqv.2_Silent_p.N393N NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 394 Ig-like 2. extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) CCTCACTGCCATTTGCTGAAA 0.408 IRX2 153572 broad.mit.edu 37 5 2749779 2749779 + Silent SNP G A A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr5:2749779G>A uc003jda.2 - 2 614 c.372C>T c.(370-372)GAC>GAT p.D124D C5orf38_uc003jdc.2_5'Flank|C5orf38_uc011cmg.1_5'Flank|C5orf38_uc011cmh.1_5'Flank|C5orf38_uc011cmi.1_5'Flank|C5orf38_uc011cmj.1_5'Flank|IRX2_uc003jdb.2_Silent_p.D124D NM_001134222 NP_001127694 Q9BZI1 IRX2_HUMAN iroquois homeobox 2 124 Homeobox; TALE-type. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 GBM - Glioblastoma multiforme(108;0.204) TGGCCGTGGCGTCCCGCGTGG 0.652 BDP1 55814 broad.mit.edu 37 5 70813215 70813215 + Missense_Mutation SNP G A A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr5:70813215G>A uc003kbp.1 + 22 5190 c.4927G>A c.(4927-4929)GAA>AAA p.E1643K BDP1_uc003kbo.2_Missense_Mutation_p.E1643K NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN transcription factor-like nuclear regulator 1643 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding skin(2) 2 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) CAGAATGTATGAAAATCAAAG 0.303 JMY 133746 broad.mit.edu 37 5 78612055 78612055 + Silent SNP T C C TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr5:78612055T>C uc003kfx.3 + 10 3412 c.2892T>C c.(2890-2892)CTT>CTC p.L964L NM_152405 NP_689618 Q8N9B5 JMY_HUMAN junction-mediating and regulatory protein 964 'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter cell leading edge|cytoplasm|cytoskeleton|nucleus actin binding|transcription coactivator activity 0 all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35) ATGAAGCTCTTAGAAGAATTA 0.438 HOMER1 9456 broad.mit.edu 37 5 78697771 78697771 + Missense_Mutation SNP T C C TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr5:78697771T>C uc003kfy.2 - 6 1738 c.635A>G c.(634-636)AAA>AGA p.K212R HOMER1_uc010jab.2_Intron|HOMER1_uc010jac.2_Intron|HOMER1_uc010jad.2_Missense_Mutation_p.K38R NM_004272 NP_004263 Q86YM7 HOME1_HUMAN homer 1 212 Potential. activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane 0 Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36) AAGTTGCTGTTTCCATTGTTT 0.478 ELL2 22936 broad.mit.edu 37 5 95234136 95234136 + Missense_Mutation SNP G T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr5:95234136G>T uc003klr.3 - 8 1683 c.1333C>A c.(1333-1335)CTA>ATA p.L445I NM_012081 NP_036213 O00472 ELL2_HUMAN elongation factor, RNA polymerase II, 2 445 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter transcription elongation factor complex central_nervous_system(1) 1 all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198) all cancers(79;2.16e-15) GGACACTTTAGTAGAACGGAA 0.373 APC 324 broad.mit.edu 37 5 112174282 112174282 + Silent SNP T C C TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr5:112174282T>C uc010jby.2 + 16 3371 c.2991T>C c.(2989-2991)TAT>TAC p.Y997Y APC_uc011cvt.1_Silent_p.Y979Y|APC_uc003kpz.3_Silent_p.Y997Y|APC_uc003kpy.3_Silent_p.Y997Y|APC_uc010jbz.2_Silent_p.Y714Y|APC_uc010jca.2_Silent_p.Y297Y NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 997 Ser-rich.|Responsible for down-regulation through a process mediated by direct ubiquitination. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.Y997fs*8(1)|p.?(1) large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) TTTGCAGTTATGGTCAATACC 0.343 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) MAML1 9794 broad.mit.edu 37 5 179201677 179201677 + Silent SNP C T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr5:179201677C>T uc003mkm.2 + 5 3113 c.2850C>T c.(2848-2850)GGC>GGT p.G950G MAML1_uc003mkn.1_Intron NM_014757 NP_055572 Q92585 MAML1_HUMAN mastermind-like 1 950 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck peptide antigen binding|protein kinase binding|transcription coactivator activity lung(4)|ovary(2) 6 all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CACAGATGGGCGGTCGGGCGG 0.706 MYLK4 340156 broad.mit.edu 37 6 2685573 2685573 + Missense_Mutation SNP C A A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr6:2685573C>A uc003mty.3 - 6 799 c.502G>T c.(502-504)GAT>TAT p.D168Y NM_001012418 NP_001012418 Q86YV6 MYLK4_HUMAN myosin light chain kinase family, member 4 168 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(3)|ovary(1) 4 Ovarian(93;0.0412) all_hematologic(90;0.0897) TCGAAGGCATCGTACAGCTGG 0.557 HIVEP1 3096 broad.mit.edu 37 6 12164550 12164550 + Silent SNP T C C TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr6:12164550T>C uc003nac.2 + 9 8192 c.8013T>C c.(8011-8013)GTT>GTC p.V2671V HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 2671 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) ATTCTGAAGTTTTTACAAAGC 0.577 RNF5 6048 broad.mit.edu 37 6 32147882 32147882 + Missense_Mutation SNP G A A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr6:32147882G>A uc003oaj.3 + 5 551 c.424G>A c.(424-426)GAG>AAG p.E142K AGPAT1_uc003oaf.2_5'Flank|AGPAT1_uc003oag.2_5'Flank|AGPAT1_uc003oah.2_5'Flank NM_006913 NP_008844 Q99942 RNF5_HUMAN ring finger protein 5 142 ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding 0 CAATGCCCATGAGCCTTTCCG 0.557 COL11A2 1302 broad.mit.edu 37 6 33133402 33133402 + Missense_Mutation SNP C A A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr6:33133402C>A uc003ocx.1 - 63 4902 c.4674G>T c.(4672-4674)AGG>AGT p.R1558S COL11A2_uc010jul.1_Missense_Mutation_p.R128S|COL11A2_uc003ocy.1_Missense_Mutation_p.R1472S|COL11A2_uc003ocz.1_Missense_Mutation_p.R1451S NM_080680 NP_542411 P13942 COBA2_HUMAN collagen, type XI, alpha 2 isoform 1 1558 Fibrillar collagen NC1. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging ovary(3)|skin(2) 5 CTGTTGGCCGCCTCATCTGCT 0.662 TFEB 7942 broad.mit.edu 37 6 41654875 41654875 + Missense_Mutation SNP G A A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr6:41654875G>A uc003oqs.1 - 8 1062 c.760C>T c.(760-762)CGC>TGC p.R254C TFEB_uc003oqt.1_Missense_Mutation_p.R254C|TFEB_uc003oqu.1_Missense_Mutation_p.R268C|TFEB_uc003oqv.1_Missense_Mutation_p.R254C|TFEB_uc003oqr.1_Missense_Mutation_p.R169C NM_007162 NP_009093 P19484 TFEB_HUMAN transcription factor EB 254 Helix-loop-helix motif. embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ovary(1) 1 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) TCCTTGATGCGGTCATTGATG 0.537 T ALPHA renal (childhood epithelioid) C7orf31 136895 broad.mit.edu 37 7 25182279 25182279 + Missense_Mutation SNP G A A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr7:25182279G>A uc003sxn.1 - 8 1400 c.839C>T c.(838-840)TCG>TTG p.S280L C7orf31_uc003sxm.1_Missense_Mutation_p.S122L NM_138811 NP_620166 Q8N865 CG031_HUMAN hypothetical protein LOC136895 280 0 ATGAGTGTACGAAGTGAGCCA 0.368 VPS41 27072 broad.mit.edu 37 7 38816326 38816326 + Missense_Mutation SNP C T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr7:38816326C>T uc003tgy.2 - 11 861 c.835G>A c.(835-837)GAT>AAT p.D279N VPS41_uc003tgz.2_Missense_Mutation_p.D254N|VPS41_uc010kxn.2_Missense_Mutation_p.D190N NM_014396 NP_055211 P49754 VPS41_HUMAN vacuolar protein sorting 41 isoform 1 279 Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction zinc ion binding skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 ACAAGCTGATCACAGAGAGGT 0.413 URGCP 55665 broad.mit.edu 37 7 43917540 43917540 + Missense_Mutation SNP C T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr7:43917540C>T uc003tiw.2 - 6 1579 c.1522G>A c.(1522-1524)GAG>AAG p.E508K URGCP_uc003tiu.2_Missense_Mutation_p.E465K|URGCP_uc003tiv.2_Missense_Mutation_p.E433K|URGCP_uc003tix.2_Missense_Mutation_p.E499K|URGCP_uc003tiy.2_Missense_Mutation_p.E465K|URGCP_uc003tiz.2_Missense_Mutation_p.E465K|URGCP_uc011kbj.1_Missense_Mutation_p.E465K NM_001077663 NP_001071131 Q8TCY9 URGCP_HUMAN up-regulated gene 4 isoform 3 508 cell cycle centrosome|nucleus GTP binding ovary(2)|liver(1)|skin(1) 4 AACTCCTTCTCCACTTGGGCT 0.607 POM121L12 285877 broad.mit.edu 37 7 53103790 53103790 + Silent SNP G A A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr7:53103790G>A uc003tpz.2 + 1 442 c.426G>A c.(424-426)GCG>GCA p.A142A NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 142 0 TCGGGATCGCGCCCCCTGAGC 0.587 POM121L12 285877 broad.mit.edu 37 7 53103915 53103915 + Missense_Mutation SNP A T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr7:53103915A>T uc003tpz.2 + 1 567 c.551A>T c.(550-552)CAG>CTG p.Q184L NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 184 0 GCGCTCAGCCAGTGCCCCAAG 0.577 DUS4L 11062 broad.mit.edu 37 7 107217955 107217955 + Missense_Mutation SNP T G G TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr7:107217955T>G uc003veh.2 + 8 1237 c.904T>G c.(904-906)TCA>GCA p.S302A DUS4L_uc003veg.2_Missense_Mutation_p.S181A|DUS4L_uc011klw.1_RNA|DUS4L_uc011klx.1_Missense_Mutation_p.S181A|DUS4L_uc010ljl.2_Missense_Mutation_p.S212A|BCAP29_uc003vej.2_5'Flank|BCAP29_uc011kly.1_5'Flank|BCAP29_uc011klz.1_5'Flank NM_181581 NP_853559 O95620 DUS4L_HUMAN dihydrouridine synthase 4-like 302 tRNA processing flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity 0 TAATGCTCTGTCAAGCACATC 0.353 TES 26136 broad.mit.edu 37 7 115889257 115889257 + Silent SNP T A A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr7:115889257T>A uc003vho.2 + 3 478 c.297T>A c.(295-297)GCT>GCA p.A99A TES_uc011kmx.1_Silent_p.A99A|TES_uc011kmy.1_Intron|TES_uc010lka.1_Silent_p.A90A|TES_uc003vhp.2_Silent_p.A90A NM_015641 NP_056456 Q9UGI8 TES_HUMAN testin isoform 1 99 PET. negative regulation of cell proliferation cytoplasm|focal adhesion|nucleus|protein complex zinc ion binding 0 Lung NSC(10;0.0137)|all_lung(10;0.0148) Breast(660;0.0602) STAD - Stomach adenocarcinoma(10;0.00878) ATCCAGTTGCTGCCAAGAAGA 0.383 GRM8 2918 broad.mit.edu 37 7 126542691 126542691 + Missense_Mutation SNP C T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr7:126542691C>T uc003vlr.2 - 5 1372 c.1061G>A c.(1060-1062)CGA>CAA p.R354Q GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.R354Q|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_Missense_Mutation_p.R75Q NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 354 Extracellular (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) CACATTTCTTCGATTATTGGC 0.348 HNSCC(24;0.065) AGAP3 116988 broad.mit.edu 37 7 150840450 150840450 + Missense_Mutation SNP C T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr7:150840450C>T uc003wjg.1 + 17 2299 c.2296C>T c.(2296-2298)CGG>TGG p.R766W AGAP3_uc003wje.1_Missense_Mutation_p.R435W|AGAP3_uc003wjj.1_Missense_Mutation_p.R265W|AGAP3_uc003wjk.1_Missense_Mutation_p.R184W NM_031946 NP_114152 Q96P47 AGAP3_HUMAN centaurin, gamma 3 isoform a 730 Arf-GAP. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|ovary(1) 3 ACGCTGGATACGGGCCAAGTA 0.622 CLVS1 157807 broad.mit.edu 37 8 62212806 62212806 + Silent SNP T C C TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr8:62212806T>C uc003xuh.2 + 2 744 c.420T>C c.(418-420)ATT>ATC p.I140I CLVS1_uc003xug.2_Silent_p.I140I|CLVS1_uc003xui.2_Intron|CLVS1_uc010lyp.2_Silent_p.I140I NM_173519 NP_775790 Q8IUQ0 CLVS1_HUMAN retinaldehyde binding protein 1-like 1 140 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity skin(4)|ovary(1) 5 GCAGGAAGATTCTTTTGCTGT 0.448 C8orf84 157869 broad.mit.edu 37 8 73982070 73982070 + Missense_Mutation SNP C T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr8:73982070C>T uc003xzf.2 - 4 852 c.647G>A c.(646-648)CGT>CAT p.R216H NM_153225 NP_694957 Q8IVN8 RPESP_HUMAN RPE-spondin precursor 216 immune response extracellular region polysaccharide binding|scavenger receptor activity 0 TCCAGAACAACGAAGGCTCAC 0.478 LAMC3 10319 broad.mit.edu 37 9 133948659 133948659 + Missense_Mutation SNP C T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr9:133948659C>T uc004caa.1 + 20 3543 c.3445C>T c.(3445-3447)CCG>TCG p.P1149S NM_006059 NP_006050 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 precursor 1149 Domain II and I. cell adhesion basement membrane|membrane structural molecule activity ovary(2)|pancreas(1) 3 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) TCCCAGTCAGCCGACCAAATG 0.582 KCNT1 57582 broad.mit.edu 37 9 138657034 138657034 + Missense_Mutation SNP G A A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr9:138657034G>A uc011mdq.1 + 12 1267 c.1193G>A c.(1192-1194)CGG>CAG p.R398Q KCNT1_uc011mdr.1_Missense_Mutation_p.R225Q|KCNT1_uc010nbf.2_Missense_Mutation_p.R353Q|KCNT1_uc004cgo.1_Missense_Mutation_p.R147Q NM_020822 NP_065873 Q5JUK3 KCNT1_HUMAN potassium channel, subfamily T, member 1 398 membrane binding|calcium-activated potassium channel activity large_intestine(2)|ovary(1)|pancreas(1) 4 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) GCCCACCCCCGGCTCCAGGTG 0.642 ACE2 59272 broad.mit.edu 37 X 15582159 15582159 + Missense_Mutation SNP C T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chrX:15582159C>T uc004cxa.1 - 17 2465 c.2297G>A c.(2296-2298)AGA>AAA p.R766K ACE2_uc004cxb.2_Missense_Mutation_p.R766K NM_021804 NP_068576 Q9BYF1 ACE2_HUMAN angiotensin I converting enzyme 2 precursor 766 Cytoplasmic (Potential). angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding ovary(3) 3 Hepatocellular(33;0.183) Moexipril(DB00691) CTTCCGATCTCTGATCCCAGT 0.413 RS1 6247 broad.mit.edu 37 X 18690198 18690198 + Translation_Start_Site SNP G A A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chrX:18690198G>A uc004cyo.2 - 1 26 c.-9C>T c.(-11--7)GACGA>GATGA NM_000330 NP_000321 O15537 XLRS1_HUMAN X-linked juvenile retinoschisis protein cell adhesion|multicellular organismal development|response to stimulus|visual perception extracellular space ovary(2) 2 Hepatocellular(33;0.183) TCTTCCCCTCGTCCTCGGCCA 0.443 KLHL34 257240 broad.mit.edu 37 X 21674007 21674007 + Missense_Mutation SNP C T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chrX:21674007C>T uc004czz.1 - 1 2442 c.1900G>A c.(1900-1902)GAG>AAG p.E634K NM_153270 NP_695002 Q8N239 KLH34_HUMAN kelch-like 34 634 ovary(1) 1 TCTCCAACCTCTCCCTCCCTC 0.637 BCOR 54880 broad.mit.edu 37 X 39932304 39932304 + Silent SNP G A A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chrX:39932304G>A uc004den.3 - 4 2587 c.2295C>T c.(2293-2295)TCC>TCT p.S765S BCOR_uc004dep.3_Silent_p.S765S|BCOR_uc004deo.3_Silent_p.S765S|BCOR_uc004dem.3_Silent_p.S765S|BCOR_uc004deq.3_Silent_p.S765S NM_001123385 NP_001116857 Q6W2J9 BCOR_HUMAN BCL-6 interacting corepressor isoform c 765 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 CCAAAATCTCGGAAAACCGAT 0.512 BMP15 9210 broad.mit.edu 37 X 50653945 50653945 + Silent SNP C T T rs149633402 TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chrX:50653945C>T uc011mnw.1 + 1 162 c.162C>T c.(160-162)GGC>GGT p.G54G NM_005448 NP_005439 O95972 BMP15_HUMAN bone morphogenetic protein 15 precursor 54 female gamete generation|granulosa cell development|ovarian follicle development extracellular space cytokine activity|growth factor activity ovary(2) 2 Ovarian(276;0.236) AATCCCCTGGCGAACAGCCAA 0.592 KDM5C 8242 broad.mit.edu 37 X 53230914 53230914 + Missense_Mutation SNP G A A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chrX:53230914G>A uc004drz.2 - 14 2412 c.1879C>T c.(1879-1881)CGC>TGC p.R627C KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Missense_Mutation_p.R560C|KDM5C_uc004dsa.2_Missense_Mutation_p.R626C NM_004187 NP_004178 P41229 KDM5C_HUMAN jumonji, AT rich interactive domain 1C isoform 627 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1) 18 ATGCACTGGCGCCCAGCAGGC 0.587 N|F|S clear cell renal carcinoma FAM123B 139285 broad.mit.edu 37 X 63412206 63412206 + Frame_Shift_Del DEL T - - TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chrX:63412206delT uc004dvo.2 - 2 1234 c.961delA c.(961-963)AGCfs p.S321fs NM_152424 NP_689637 Q5JTC6 F123B_HUMAN family with sequence similarity 123B 321 Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane p.0?(40) kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1) 112 GAATCAAAGCTTTTCAGGGAT 0.522 YIPF6 286451 broad.mit.edu 37 X 67731798 67731798 + Missense_Mutation SNP T A A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chrX:67731798T>A uc004dwy.2 + 2 188 c.165T>A c.(163-165)AAT>AAA p.N55K YIPF6_uc011mph.1_Intron NM_173834 NP_776195 Q96EC8 YIPF6_HUMAN Yip1 domain family, member 6 55 endoplasmic reticulum|integral to membrane 0 CCACATTAAATGAATCTGTTC 0.393 PCDH11X 27328 broad.mit.edu 37 X 91133162 91133162 + Missense_Mutation SNP C A A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chrX:91133162C>A uc004efk.1 + 2 2768 c.1923C>A c.(1921-1923)TTC>TTA p.F641L PCDH11X_uc004efl.1_Missense_Mutation_p.F641L|PCDH11X_uc004efo.1_Missense_Mutation_p.F641L|PCDH11X_uc010nmv.1_Missense_Mutation_p.F641L|PCDH11X_uc004efm.1_Missense_Mutation_p.F641L|PCDH11X_uc004efn.1_Missense_Mutation_p.F641L|PCDH11X_uc004efh.1_Missense_Mutation_p.F641L|PCDH11X_uc004efj.1_Missense_Mutation_p.F641L NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 641 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 CTTACACTTTCTATGTAAAGG 0.363 OCRL 4952 broad.mit.edu 37 X 128721074 128721074 + Silent SNP A G G TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chrX:128721074A>G uc004euq.2 + 20 2400 c.2235A>G c.(2233-2235)CTA>CTG p.L745L OCRL_uc004eur.2_Silent_p.L737L|OCRL_uc010nrb.2_5'Flank NM_000276 NP_000267 Q01968 OCRL_HUMAN phosphatidylinositol polyphosphate 5-phosphatase 745 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding lung(2)|ovary(1)|kidney(1) 4 TAGATCACCTATTCAAATACG 0.403 HTATSF1 27336 broad.mit.edu 37 X 135593609 135593609 + Missense_Mutation SNP G T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chrX:135593609G>T uc004ezw.2 + 10 2127 c.1705G>T c.(1705-1707)GGT>TGT p.G569C HTATSF1_uc004ezx.2_Missense_Mutation_p.G569C NM_001163280 NP_001156752 O43719 HTSF1_HUMAN HIV-1 Tat specific factor 1 569 Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus nucleotide binding|protein binding|RNA binding ovary(2)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) TGAAGAAAATGGTCTCGAGAA 0.393 SOX3 6658 broad.mit.edu 37 X 139586804 139586804 + Missense_Mutation SNP C T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chrX:139586804C>T uc004fbd.1 - 1 422 c.422G>A c.(421-423)CGG>CAG p.R141Q NM_005634 NP_005625 P41225 SOX3_HUMAN SRY (sex determining region Y)-box 3 141 HMG box. face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent nucleus DNA binding pancreas(1) 1 Acute lymphoblastic leukemia(192;7.65e-05) GTTCATGGGCCGTTTCACACG 0.652 MTM1 4534 broad.mit.edu 37 X 149839946 149839946 + Missense_Mutation SNP C T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chrX:149839946C>T uc004fef.3 + 15 1766 c.1690C>T c.(1690-1692)CGC>TGC p.R564C MTM1_uc011mxx.1_RNA|MTM1_uc011mxy.1_Missense_Mutation_p.R527C|MTM1_uc011mxz.1_Missense_Mutation_p.R449C|MTM1_uc010nte.2_Missense_Mutation_p.R432C NM_000252 NP_000243 Q13496 MTM1_HUMAN myotubularin 564 endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization filopodium|late endosome|plasma membrane|ruffle intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity upper_aerodigestive_tract(1)|ovary(1)|kidney(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) CTTAGCCTTACGCGACGAATA 0.517 GABRE 2564 broad.mit.edu 37 X 151128446 151128446 + Missense_Mutation SNP A G G TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chrX:151128446A>G uc004ffi.2 - 6 703 c.649T>C c.(649-651)TCC>CCC p.S217P GABRE_uc011myd.1_RNA|GABRE_uc011mye.1_RNA|MIR224_hsa-mir-224|MI0000301_5'Flank|MIR452_hsa-mir-452|MI0001733_5'Flank NM_004961 NP_004952 P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, 217 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) TCAGGATAGGAAACTGGAAAG 0.438 PLXNB3 5365 broad.mit.edu 37 X 153033712 153033712 + Silent SNP C T T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chrX:153033712C>T uc004fii.2 + 4 1269 c.1095C>T c.(1093-1095)CCC>CCT p.P365P PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.1_Silent_p.P47P|PLXNB3_uc010nuk.2_Silent_p.P388P|PLXNB3_uc011mzd.1_Silent_p.P4P NM_005393 NP_005384 Q9ULL4 PLXB3_HUMAN plexin B3 isoform 1 365 Extracellular (Potential).|Sema. axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity lung(1) 1 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) AGGATTCCCCCGAGTCGTACC 0.687 MPP1 4354 broad.mit.edu 37 X 154009984 154009984 + Missense_Mutation SNP T A A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chrX:154009984T>A uc004fmp.1 - 10 1155 c.1040A>T c.(1039-1041)GAG>GTG p.E347V MPP1_uc010nvg.1_Missense_Mutation_p.E327V|MPP1_uc011mzv.1_Missense_Mutation_p.E317V|MPP1_uc004fmq.1_Missense_Mutation_p.E301V|MPP1_uc011mzw.1_Missense_Mutation_p.E330V NM_002436 NP_002427 Q00013 EM55_HUMAN palmitoylated membrane protein 1 347 Guanylate kinase-like.|Interaction with MPP5. regulation of neutrophil chemotaxis|signal transduction integral to plasma membrane|membrane fraction|stereocilium guanylate kinase activity|protein binding ovary(2)|central_nervous_system(1) 3 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CTCCAAGAACTCATTGGCAGA 0.468