Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut UBE2F 140739 broad.mit.edu 37 2 238939226 238939226 + Missense_Mutation SNP C C T TCGA-ET-A3BQ-01B-11D-A202-08 TCGA-ET-A3BQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4 ed9c6a96-923e-4d15-a6a8-5579a37b2a75 g.chr2:238939226C>T uc002vxk.3 + 6 587 c.383C>T c.(382-384)aCt>aTt p.T128I UBE2F_uc010zno.2_Non-coding_Transcript|UBE2F_uc010znn.2_Missense_Mutation_p.T96I|UBE2F_uc010znp.2_Intron|SCLY_uc002vxm.4_5'UTR NM_080678 NP_542409 Q969M7 UBE2F_HUMAN Homo sapiens ubiquitin-conjugating enzyme E2F (putative) (UBE2F), transcript variant 1, mRNA. 128 protein neddylation ATP binding|NEDD8 ligase activity|protein binding endometrium(1)|large_intestine(1) 2 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301) ATTGATGGCACTGGCTGGGCT 0.502000 8 18 0 0 1 0 0 FLNA 2316 broad.mit.edu 37 X 153585851 153585851 + Silent SNP G G A TCGA-ET-A3BQ-01B-11D-A202-08 TCGA-ET-A3BQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4 ed9c6a96-923e-4d15-a6a8-5579a37b2a75 g.chrX:153585851G>A uc004fkk.2 - 28 5145 c.4896C>T c.(4894-4896)taC>taT p.Y1632Y FLNA_uc011mzn.1_5'UTR|FLNA_uc010nuu.1_Silent_p.Y1632Y NM_001110556 NP_001104026 P21333 FLNA_HUMAN Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA. 1632 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CACGCACGCGGTACGGGGAGA 0.657000 3 43 0 0 1 0 0 MAPK10 5602 broad.mit.edu 37 4 87028402 87028402 + Missense_Mutation SNP G G C TCGA-ET-A3BQ-01B-11D-A202-08 TCGA-ET-A3BQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4 ed9c6a96-923e-4d15-a6a8-5579a37b2a75 g.chr4:87028402G>C uc003hps.3 - 4 1026 c.340C>G c.(340-342)Ctc>Gtc p.L114V MAPK10_uc010ikg.3_Missense_Mutation_p.L76V|MAPK10_uc003hpr.3_Missense_Mutation_p.L76V|MAPK10_uc003hpt.3_Missense_Mutation_p.L114V|MAPK10_uc003hpu.3_Missense_Mutation_p.L114V|MAPK10_uc003hpv.3_5'UTR|MAPK10_uc010ikh.1_Non-coding_Transcript|MAPK10_uc011ccw.2_5'UTR|MAPK10_uc003hpo.3_5'UTR|MAPK10_uc003hpp.3_5'UTR NM_138982 NP_620446 P53779 MK10_HUMAN Homo sapiens mitogen-activated protein kinase 10 (MAPK10), transcript variant 2, mRNA. 114 Protein kinase. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding breast(1)|central_nervous_system(1)|stomach(1) 3 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243) OV - Ovarian serous cystadenocarcinoma(123;0.002) CACTTCATGAGGACCAGCTCC 0.433000 3 75 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ET-A3BQ-01B-11D-A202-08 TCGA-ET-A3BQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4 ed9c6a96-923e-4d15-a6a8-5579a37b2a75 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 39 56 0 0 1 0 0 SVIL 6840 broad.mit.edu 37 10 29769508 29769508 + Missense_Mutation SNP C C A TCGA-ET-A3BQ-01B-11D-A202-08 TCGA-ET-A3BQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4 ed9c6a96-923e-4d15-a6a8-5579a37b2a75 g.chr10:29769508C>A uc001iut.1 - 28 6088 c.5335G>T c.(5335-5337)Gat>Tat p.D1779Y LOC387647_uc001iup.3_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Missense_Mutation_p.D693Y|SVIL_uc001iuu.1_Missense_Mutation_p.D1353Y|SVIL_uc009xlc.2_Missense_Mutation_p.D571Y NM_021738 NP_068506 O95425 SVIL_HUMAN Homo sapiens supervillin (SVIL), transcript variant 2, mRNA. 1779 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) ACATAGGCATCCCCCTCATGG 0.557000 29 46 0 0 1 0 0 ARHGEF40 55701 broad.mit.edu 37 14 21542856 21542856 + Missense_Mutation SNP G G A TCGA-ET-A3BQ-01B-11D-A202-08 TCGA-ET-A3BQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4 ed9c6a96-923e-4d15-a6a8-5579a37b2a75 g.chr14:21542856G>A uc001vzp.3 + 2 996 c.967G>A c.(967-969)Gag>Aag p.E323K ARHGEF40_uc001vzn.1_Missense_Mutation_p.E323K|ARHGEF40_uc001vzo.1_Intron|ARHGEF40_uc010aij.3_Non-coding_Transcript|ARHGEF40_uc010tln.2_5'UTR NM_018071 NP_060541 Q8TER5 ARH40_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 40 (ARHGEF40), mRNA. 323 Gly-rich. regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 CCCAGGAGCTGAGGCTGTCCC 0.692000 4 10 0 0 1 0 0 ASB10 136371 broad.mit.edu 37 7 150878358 150878358 + Missense_Mutation SNP C C T TCGA-ET-A3BQ-01B-11D-A202-08 TCGA-ET-A3BQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4 ed9c6a96-923e-4d15-a6a8-5579a37b2a75 g.chr7:150878358C>T uc003wjm.1 - 2 1033 c.772G>A c.(772-774)Gtc>Atc p.V258I ASB10_uc003wjl.1_Missense_Mutation_p.V258I|ASB10_uc003wjn.1_Missense_Mutation_p.V243I NM_001142459 NP_001135931 Q8WXI3 ASB10_HUMAN Homo sapiens ankyrin repeat and SOCS box containing 10 (ASB10), transcript variant 1, mRNA. 258 intracellular signal transduction NS(1)|endometrium(2)|lung(7)|skin(2) 12 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGGCAGCGGACGTCACAGGCA 0.647000 7 19 0 0 1 0 0 B3GNTL1 146712 broad.mit.edu 37 17 80923589 80923589 + Missense_Mutation SNP G G C TCGA-ET-A3BQ-01B-11D-A202-08 TCGA-ET-A3BQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4 ed9c6a96-923e-4d15-a6a8-5579a37b2a75 g.chr17:80923589G>C uc002kgg.1 - 6 552 c.538C>G c.(538-540)Ccc>Gcc p.P180A B3GNTL1_uc002kgf.1_Missense_Mutation_p.P69A|B3GNTL1_uc002kge.1_Non-coding_Transcript NM_001009905 NP_001009905 Q67FW5 B3GNL_HUMAN Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 (B3GNTL1), mRNA. 180 transferase activity, transferring glycosyl groups endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 8 Breast(20;0.000443)|all_neural(118;0.0779) all_cancers(8;0.0396)|all_epithelial(8;0.0556) BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868) AACCAGGTGGGCATGATCACC 0.552000 10 12 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40342407 40342407 + Missense_Mutation SNP T T C TCGA-ET-A3BQ-01B-11D-A202-08 TCGA-ET-A3BQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4 ed9c6a96-923e-4d15-a6a8-5579a37b2a75 g.chr2:40342407T>C uc002rrx.3 - 9 2932 c.2908A>G c.(2908-2910)Ata>Gta p.I970V LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Missense_Mutation_p.I965V|SLC8A1_uc002rsb.2_Missense_Mutation_p.I962V|SLC8A1_uc002rrz.3_Missense_Mutation_p.I957V|SLC8A1_uc002rsa.3_Missense_Mutation_p.I934V|SLC8A1_uc002rsd.4_Missense_Mutation_p.I934V NM_021097 NP_066920 P32418 NAC1_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA. 970 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) AAGCCTTTTATGTGGCAGTAG 0.408000 3 57 0 0 1 0 0 IL2RA 3559 broad.mit.edu 37 10 6061871 6061871 + Missense_Mutation SNP C C T TCGA-ET-A3BQ-01B-11D-A202-08 TCGA-ET-A3BQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4 ed9c6a96-923e-4d15-a6a8-5579a37b2a75 g.chr10:6061871C>T uc001iiz.2 - 4 836 c.617G>A c.(616-618)cGt>cAt p.R206H IL2RA_uc009xih.2_Missense_Mutation_p.R134H|IL2RA_uc001ija.1_Intron NM_000417 NP_000408 P01589 IL2RA_HUMAN Homo sapiens interleukin 2 receptor, alpha (IL2RA), mRNA. 206 cell proliferation integral to membrane interleukin-2 receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 17 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) ACTCTCAGGACGGCCTTCGGG 0.597000 4 85 0 0 1 0 0 VAV3 10451 broad.mit.edu 37 1 108292102 108292102 + Silent SNP G G A rs143070546 by1000genomes TCGA-ET-A3BQ-01B-11D-A202-08 TCGA-ET-A3BQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4 ed9c6a96-923e-4d15-a6a8-5579a37b2a75 g.chr1:108292102G>A uc010ouw.1 - 13 1428 c.1374C>T c.(1372-1374)acC>acT p.T458T VAV3_uc001dvk.1_Silent_p.T458T|VAV3_uc001dvl.1_Silent_p.T282T|VAV3_uc010oux.1_Silent_p.T458T NM_006113 NP_006104 Q9UKW4 VAV3_HUMAN Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA. 458 PH. B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1) 58 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) TTTCTTTATCGGTTGTAGGAT 0.294000 9 42 0 0 1 0 0 WIPF1 7456 broad.mit.edu 37 2 175436655 175436655 + Missense_Mutation SNP G G A TCGA-ET-A3BQ-01B-11D-A202-08 TCGA-ET-A3BQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4 ed9c6a96-923e-4d15-a6a8-5579a37b2a75 g.chr2:175436655G>A uc010fqt.1 - 4 1042 c.878C>T c.(877-879)cCa>cTa p.P293L BC046497_uc002uiw.3_Intron|BC046497_uc002uix.1_Intron|WIPF1_uc002uja.3_Missense_Mutation_p.P293L|WIPF1_uc002ujc.1_Missense_Mutation_p.P293L|WIPF1_uc002uiz.3_Missense_Mutation_p.P293L|WIPF1_uc002ujb.2_Missense_Mutation_p.P293L|WIPF1_uc010zep.1_Missense_Mutation_p.P293L NM_003387 NP_003378 O43516 WIPF1_HUMAN Homo sapiens WAS/WASL interacting protein family, member 1 (WIPF1), transcript variant 1, mRNA. 293 Pro-rich. actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1) 32 GGAAGGCACTGGAGGCTTGTT 0.672000 3 22 0 0 1 0 0 CCDC39 339829 broad.mit.edu 37 3 180381735 180381735 + Missense_Mutation SNP C C T TCGA-ET-A3BQ-01B-11D-A202-08 TCGA-ET-A3BQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4 ed9c6a96-923e-4d15-a6a8-5579a37b2a75 g.chr3:180381735C>T uc010hxe.3 - 1 245 c.130G>A c.(130-132)Gag>Aag p.E44K CCDC39_uc003fkn.3_Non-coding_Transcript NM_181426 NP_852091 Q9UFE4 CCD39_HUMAN Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA. 44 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TCACGTAACTCATCTTGCAAG 0.333000 9 65 0 0 1 0 0 MRFAP1L1 114932 broad.mit.edu 37 4 6711139 6711139 + Missense_Mutation SNP G G A TCGA-ET-A3BQ-01B-11D-A202-08 TCGA-ET-A3BQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4 ed9c6a96-923e-4d15-a6a8-5579a37b2a75 g.chr4:6711139G>A uc003gjo.3 - 0 468 c.218C>T c.(217-219)gCc>gTc p.A73V MRFAP1L1_uc021xlc.1_Missense_Mutation_p.A73V NM_203462 NP_982287 Q96HT8 MR1L1_HUMAN Homo sapiens Morf4 family associated protein 1-like 1 (MRFAP1L1), mRNA. 73 CTCCTCCGAGGCCTCCACCTG 0.602000 6 162 0 0 1 0 0 ARMCX1 51309 broad.mit.edu 37 X 100808364 100808364 + Missense_Mutation SNP G G A TCGA-ET-A3BQ-01B-11D-A202-08 TCGA-ET-A3BQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4 ed9c6a96-923e-4d15-a6a8-5579a37b2a75 g.chrX:100808364G>A uc004ehv.3 + 3 822 c.451G>A c.(451-453)Ggc>Agc p.G151S ARMCX1_uc004ehw.3_Missense_Mutation_p.G151S|ARMCX1_uc022cak.1_Missense_Mutation_p.G151S NM_016608 NP_057692 Q9P291 ARMX1_HUMAN Homo sapiens armadillo repeat containing, X-linked 1 (ARMCX1), mRNA. 151 integral to membrane binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1) 19 CAGGGGTGGAGGCTGCCACCC 0.617000 4 141 0 0 1 0 0 FAM153B 202134 broad.mit.edu 37 5 175530270 175530270 + Missense_Mutation SNP C C A TCGA-ET-A3BQ-01B-11D-A202-08 TCGA-ET-A3BQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4 ed9c6a96-923e-4d15-a6a8-5579a37b2a75 g.chr5:175530270C>A uc003mdk.3 + 12 762 c.705C>A c.(703-705)aaC>aaA p.N235K FAM153B_uc021yic.1_Intron NM_001079529 NP_001072997 P0C7A2 F153B_HUMAN Homo sapiens family with sequence similarity 153, member B (FAM153B), mRNA. 235 endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 16 all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Kidney(146;0.0965) CCAGTTACAACGGCGAGGAGG 0.448000 58 271 0 0 1 0 0 COMTD1 118881 broad.mit.edu 37 10 76994748 76994748 + Frame_Shift_Del DEL G G - TCGA-ET-A3BQ-01B-11D-A202-08 TCGA-ET-A3BQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4 ed9c6a96-923e-4d15-a6a8-5579a37b2a75 g.chr10:76994748delG uc001jxb.3 - 4 534 c.450delC c.(448-450)gccfs p.A150fs NM_144589 NP_653190 Q86VU5 CMTD1_HUMAN Homo sapiens catechol-O-methyltransferase domain containing 1 (COMTD1), mRNA. 150 integral to membrane O-methyltransferase activity central_nervous_system(1)|large_intestine(1)|lung(1) 3 all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183) GCTCCGCCTCGGCCTGCGGAG 0.697 2 4 --- --- --- ---