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 ARHGEF19 128272 broad.mit.edu 37 1 16534595 16534595 + Silent SNP A A G TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr1:16534595A>G ENST00000270747.3 - 3 674 c.538T>C c.(538-540)Ttg>Ctg p.L180L NM_153213.3 NP_694945.2 Q8IW93 ARHGJ_HUMAN Rho guanine nucleotide exchange factor (GEF) 19 180 regulation of actin cytoskeleton organization intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649) GACCCAGACAACTCCACCCTG 0.667 4 100 --- --- --- --- BEST4 266675 broad.mit.edu 37 1 45253307 45253307 + Nonsense_Mutation SNP C C T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr1:45253307C>T ENST00000372207.3 - 1 70 c.71G>A c.(70-72)tGg>tAg p.W24* NM_153274.2 NP_695006.1 Q8NFU0 BEST4_HUMAN bestrophin 4 24 chloride channel complex|plasma membrane chloride channel activity large_intestine(1)|lung(4)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(166;0.155) GCTTCCCCTCCAGCGGAGAAG 0.572 26 215 --- --- --- --- SPRR1A 6698 broad.mit.edu 37 1 152957847 152957847 + Missense_Mutation SNP G G T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr1:152957847G>T ENST00000307122.2 + 2 205 c.141G>T c.(139-141)gaG>gaT p.E47D SPRR1A_ENST00000368762.1_Missense_Mutation_p.E47D NM_001199828.1|NM_005987.3 NP_001186757.1|NP_005978.2 P35321 SPR1A_HUMAN small proline-rich protein 1A 47 6 X 8 AA approximate tandem repeats. keratinization|peptide cross-linking cornified envelope|cytoplasm protein binding, bridging|structural molecule activity breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1) 7 Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) AGGTGCCTGAGCCCTGCCACC 0.642 21 250 --- --- --- --- SHC1 6464 broad.mit.edu 37 1 154941890 154941890 + Missense_Mutation SNP C C T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr1:154941890C>T ENST00000448116.2 - 2 750 c.530G>A c.(529-531)cGt>cAt p.R177H SHC1_ENST00000368453.4_Missense_Mutation_p.R67H|SHC1_ENST00000368450.1_Missense_Mutation_p.R67H|SHC1_ENST00000368445.5_Missense_Mutation_p.R177H|SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368449.4_Intron NM_001130040.1 NP_001123512.1 P29353 SHC1_HUMAN SHC (Src homology 2 domain containing) transforming protein 1 177 PID. activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth cytosol|mitochondrial matrix|Shc-EGFR complex epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 20 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) GTCCAGGGCACGCATTGACTG 0.602 6 35 --- --- --- --- SLAMF6 114836 broad.mit.edu 37 1 160466146 160466146 + Missense_Mutation SNP C C T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr1:160466146C>T ENST00000368059.3 - 2 156 c.87G>A c.(85-87)atG>atA p.M29I SLAMF6_ENST00000368057.3_Missense_Mutation_p.M29I|SLAMF6_ENST00000368055.1_Intron NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4 NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1 Q96DU3 SLAF6_HUMAN SLAM family member 6 29 integral to membrane|plasma membrane receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4) 22 all_cancers(52;1.05e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0923) TCCCGTTCACCATCAATGGGG 0.458 8 283 --- --- --- --- OSR1 130497 broad.mit.edu 37 2 19553372 19553372 + Silent SNP C C T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr2:19553372C>T ENST00000536433.1 - 1 3305 c.195G>A c.(193-195)ccG>ccA p.P65P OSR1_ENST00000272223.2_Silent_p.P65P Q8TAX0 OSR1_HUMAN odd-skipped related transciption factor 1 65 chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development nucleolus nucleic acid binding|zinc ion binding breast(1)|large_intestine(2)|lung(4)|ovary(1) 8 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) Acute lymphoblastic leukemia(84;0.221) AAGAAGAGCGCGGCAAGTGCA 0.612 5 57 --- --- --- --- KCNH7 90134 broad.mit.edu 37 2 163291905 163291905 + Missense_Mutation SNP C C A rs149070457 TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr2:163291905C>A ENST00000332142.5 - 8 1856 c.1757G>T c.(1756-1758)gGa>gTa p.G586V KCNH7_ENST00000328032.4_Missense_Mutation_p.G579V NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 586 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity p.G586E(1) NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) ATCCAACCATCCGATTTTGTC 0.433 5 136 --- --- --- --- ZNF35 7584 broad.mit.edu 37 3 44700525 44700525 + Missense_Mutation SNP T T C TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr3:44700525T>C ENST00000396056.2 + 4 905 c.670T>C c.(670-672)Tgt>Cgt p.C224R RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000542250.1_Missense_Mutation_p.C64R|ZNF35_ENST00000296092.3_3'UTR NM_003420.3 NP_003411.3 P13682 ZNF35_HUMAN zinc finger protein 35 224 cellular response to retinoic acid|spermatogenesis nucleus|perinuclear region of cytoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 12 Ovarian(412;0.0228) OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) GCCTTTTACGTGTAGCGTGTG 0.428 7 131 --- --- --- --- EPHA3 2042 broad.mit.edu 37 3 89259294 89259294 + Missense_Mutation SNP T T G TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr3:89259294T>G ENST00000336596.2 + 3 663 c.438T>G c.(436-438)atT>atG p.I146M EPHA3_ENST00000494014.1_Missense_Mutation_p.I146M|EPHA3_ENST00000452448.2_Missense_Mutation_p.I146M NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 146 extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) TTGACACCATTGCAGCTGATG 0.418 TSP Lung(6;0.00050) 10 207 --- --- --- --- MYLK 4638 broad.mit.edu 37 3 123456319 123456319 + Silent SNP G G T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr3:123456319G>T ENST00000360772.3 - 9 1038 c.660C>A c.(658-660)atC>atA p.I220I MYLK_ENST00000360304.3_Silent_p.I220I|MYLK_ENST00000346322.5_Silent_p.I220I|MYLK_ENST00000475616.1_Silent_p.I220I|MYLK_ENST00000359169.1_Silent_p.I220I Q15746 MYLK_HUMAN myosin light chain kinase 220 Ig-like C2-type 2. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TGACTCCATGGATTTCCAGAA 0.547 9 218 --- --- --- --- UVSSA 57654 broad.mit.edu 37 4 1348988 1348988 + Silent SNP A A G TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr4:1348988A>G ENST00000389851.4 + 7 1578 c.1131A>G c.(1129-1131)aaA>aaG p.K377K UVSSA_ENST00000511216.1_Silent_p.K377K|UVSSA_ENST00000507531.1_Silent_p.K377K NM_020894.2 NP_065945.2 Q2YD98 K1530_HUMAN UV-stimulated scaffold protein A 377 TACTGAGAAAATACAAGGAGC 0.627 16 21 --- --- --- --- HNRNPD 3184 broad.mit.edu 37 4 83280638 83280638 + Nonsense_Mutation SNP C C A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr4:83280638C>A ENST00000313899.7 - 3 722 c.445G>T c.(445-447)Gag>Tag p.E149* HNRNPD_ENST00000353341.4_Nonsense_Mutation_p.E149*|HNRNPD_ENST00000543098.1_Nonsense_Mutation_p.E97*|HNRNPD_ENST00000541060.1_Intron|HNRNPD_ENST00000352301.4_Nonsense_Mutation_p.E130* NM_031370.2 NP_112738.1 Q14103 HNRPD_HUMAN heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa) 149 RRM 1. nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|telomeric DNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1) 7 TCTACACTCTCCGATTCTTTA 0.358 11 96 --- --- --- --- MROH2B 133558 broad.mit.edu 37 5 41005012 41005012 + Missense_Mutation SNP T T C TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr5:41005012T>C ENST00000399564.4 - 36 4325 c.3875A>G c.(3874-3876)gAa>gGa p.E1292G MROH2B_ENST00000506092.2_Missense_Mutation_p.E847G NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B AAGGATTGGTTCCTTCATGAG 0.488 7 60 --- --- --- --- EYS 346007 broad.mit.edu 37 6 66115187 66115187 + Silent SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr6:66115187G>A ENST00000503581.1 - 6 1473 c.936C>T c.(934-936)agC>agT p.S312S EYS_ENST00000393380.2_Silent_p.S312S|EYS_ENST00000370616.2_Silent_p.S312S|EYS_ENST00000370621.3_Silent_p.S312S|EYS_ENST00000370618.3_Silent_p.S312S|EYS_ENST00000342421.5_Silent_p.S312S NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 312 response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 AAGCAGAACTGCTATTTGGGC 0.378 10 131 --- --- --- --- AKAP9 10142 broad.mit.edu 37 7 91667795 91667795 + Silent SNP A A G TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr7:91667795A>G ENST00000359028.2 + 18 4662 c.4437A>G c.(4435-4437)ggA>ggG p.G1479G AKAP9_ENST00000358100.2_Silent_p.G1479G|AKAP9_ENST00000356239.3_Silent_p.G1467G Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 1479 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TATCTGGGGGAAAAGAAAATA 0.318 T BRAF papillary thyroid 4 63 --- --- --- --- PPP1R3A 5506 broad.mit.edu 37 7 113518488 113518488 + Nonsense_Mutation SNP C C A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr7:113518488C>A ENST00000284601.3 - 4 2727 c.2659G>T c.(2659-2661)Gaa>Taa p.E887* NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 887 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 TTTGATAATTCTTGAACCTGC 0.363 5 96 --- --- --- --- OR2A14 135941 broad.mit.edu 37 7 143826812 143826812 + Missense_Mutation SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr7:143826812G>A ENST00000408899.2 + 1 662 c.607G>A c.(607-609)Gtg>Atg p.V203M NM_001001659.1 NP_001001659.1 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, member 14 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(17)|skin(1) 22 Melanoma(164;0.0783) TGCAGCCTGCGTGTTCATCCT 0.577 41 356 --- --- --- --- INTS10 55174 broad.mit.edu 37 8 19682476 19682476 + Silent SNP C C T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr8:19682476C>T ENST00000397977.3 + 8 1397 c.999C>T c.(997-999)ctC>ctT p.L333L NM_018142.2 NP_060612.2 Q9NVR2 INT10_HUMAN integrator complex subunit 10 333 snRNA processing integrator complex protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 20 Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215) AGCCATCTCTCTTCCAAGGTT 0.398 3 52 --- --- --- --- WWP1 11059 broad.mit.edu 37 8 87423858 87423858 + Missense_Mutation SNP T T G TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr8:87423858T>G ENST00000517970.1 + 9 1123 c.816T>G c.(814-816)aaT>aaG p.N272K WWP1_ENST00000349423.2_Missense_Mutation_p.N54K|WWP1_ENST00000341922.2_Missense_Mutation_p.N142K|WWP1_ENST00000265428.4_Missense_Mutation_p.N272K NM_007013.3 NP_008944.1 Q9H0M0 WWP1_HUMAN WW domain containing E3 ubiquitin protein ligase 1 272 central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1) 31 TGTCTCCAAATTGCACTAGTA 0.413 30 55 --- --- --- --- MMP16 4325 broad.mit.edu 37 8 89180005 89180005 + Missense_Mutation SNP C C T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr8:89180005C>T ENST00000286614.6 - 4 883 c.602G>A c.(601-603)gGa>gAa p.G201E MMP16_ENST00000544227.1_5'UTR NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 201 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 TCCTCCCTCTCCATCAAAGGG 0.443 36 75 --- --- --- --- TG 7038 broad.mit.edu 37 8 133925308 133925308 + Silent SNP C C T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr8:133925308C>T ENST00000220616.4 + 20 4216 c.4176C>T c.(4174-4176)ggC>ggT p.G1392G TG_ENST00000377869.1_Silent_p.G1392G NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1392 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CCTTGGTGGGCAAGGATCTCC 0.557 27 43 --- --- --- --- ARHGAP39 80728 broad.mit.edu 37 8 145773444 145773444 + Silent SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr8:145773444G>A ENST00000276826.5 - 4 1227 c.1026C>T c.(1024-1026)gcC>gcT p.A342A ARHGAP39_ENST00000540274.1_Silent_p.A342A|ARHGAP39_ENST00000377307.2_Silent_p.A342A Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 342 Pro-rich. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 GGGGAGAGCCGGCCTGGTAGC 0.706 7 63 --- --- --- --- ANKRD19P 138649 broad.mit.edu 37 9 95599910 95599910 + RNA SNP T T C TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr9:95599910T>C ENST00000473204.1 + 0 1991 TTTGAACTTGTCGAACCAGAT 0.557 3 63 --- --- --- --- ANXA11 311 broad.mit.edu 37 10 81917453 81917453 + Missense_Mutation SNP C C A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr10:81917453C>A ENST00000438331.1 - 16 1884 c.1402G>T c.(1402-1404)Gac>Tac p.D468Y ANXA11_ENST00000265447.4_Missense_Mutation_p.D468Y|ANXA11_ENST00000372231.3_Missense_Mutation_p.D468Y|ANXA11_ENST00000360615.4_Missense_Mutation_p.D468Y|ANXA11_ENST00000537102.1_Missense_Mutation_p.D435Y|ANXA11_ENST00000422982.3_Missense_Mutation_p.D468Y|ANXA11_ENST00000535999.1_Missense_Mutation_p.D468Y NM_145869.1 NP_665876.1 P50995 ANX11_HUMAN annexin A11 468 cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1) 17 Prostate(51;0.00985)|all_epithelial(25;0.0951) Colorectal(32;0.109) GATCTGATGTCCAGGAGGTCG 0.577 7 93 --- --- --- --- TRIM5 85363 broad.mit.edu 37 11 5686409 5686409 + Nonsense_Mutation SNP C C T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr11:5686409C>T ENST00000305836.5 - 8 1414 c.1112G>A c.(1111-1113)tGg>tAg p.W371* TRIM5_ENST00000380034.3_Nonsense_Mutation_p.W371*|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000380027.1_Intron Q9C035 TRIM5_HUMAN tripartite motif containing 5 371 B30.2/SPRY. interspecies interaction between organisms|protein trimerization|response to virus cytoplasm|cytoplasmic mRNA processing body ligase activity|protein binding|protein homodimerization activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221) Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139) CCCCAGGATCCAAGCAGTTTT 0.403 7 210 --- --- --- --- OR56A1 120796 broad.mit.edu 37 11 6048227 6048227 + Silent SNP T T C TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr11:6048227T>C ENST00000316650.5 - 1 744 c.708A>G c.(706-708)aaA>aaG p.K236K NM_001001917.2 NP_001001917.2 Q8NGH5 O56A1_HUMAN olfactory receptor, family 56, subfamily A, member 1 236 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2) 33 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCCCCTCTGCTTTGAATCTAA 0.488 37 51 --- --- --- --- MUC15 143662 broad.mit.edu 37 11 26586841 26586841 + Missense_Mutation SNP C C T TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr11:26586841C>T ENST00000436318.2 - 2 779 c.646G>A c.(646-648)Gga>Aga p.G216R ANO3_ENST00000525139.1_Intron|MUC15_ENST00000527569.1_Missense_Mutation_p.G216R|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000455601.2_Missense_Mutation_p.G189R|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.G216R|MUC15_ENST00000529533.1_Missense_Mutation_p.G216R|ANO3_ENST00000537978.1_Intron Q8N387 MUC15_HUMAN mucin 15, cell surface associated 189 extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 GTAAGCCATCCACTTGGTTCC 0.413 7 107 --- --- --- --- SLC5A12 159963 broad.mit.edu 37 11 26702725 26702725 + Missense_Mutation SNP C C A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr11:26702725C>A ENST00000396005.3 - 12 1661 c.1352G>T c.(1351-1353)tGg>tTg p.W451L NM_178498.3 NP_848593.2 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12 451 sodium ion transport apical plasma membrane|integral to membrane symporter activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1) 35 AATGGCCACCCAAAATGACAA 0.448 3 35 --- --- --- --- KIAA1549L 25758 broad.mit.edu 37 11 33581376 33581376 + Missense_Mutation SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr11:33581376G>A ENST00000321505.4 + 6 3226 c.3046G>A c.(3046-3048)Gtc>Atc p.V1016I KIAA1549L_ENST00000265654.5_Missense_Mutation_p.V1022I|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.V1022I KIAA1549-like CAACGGCACCGTCGCCAGCAG 0.567 15 219 --- --- --- --- CAPRIN2 65981 broad.mit.edu 37 12 30867973 30867973 + Missense_Mutation SNP T T A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr12:30867973T>A ENST00000251071.5 - 15 3320 c.2570A>T c.(2569-2571)aAt>aTt p.N857I CAPRIN2_ENST00000298892.5_Missense_Mutation_p.N807I|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.N856I|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.N523I|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.N801I NM_001002259.1|NM_032156.3 NP_001002259.1|NP_115532.3 Q6IMN6 CAPR2_HUMAN caprin family member 2 857 negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex receptor binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 48 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) TCCCCGGCTATTGACAAATGG 0.438 4 135 --- --- --- --- ABCC4 10257 broad.mit.edu 37 13 95862991 95862991 + Silent SNP G G C TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr13:95862991G>C ENST00000376887.4 - 5 690 c.576C>G c.(574-576)ggC>ggG p.G192G ABCC4_ENST00000412704.1_Silent_p.G192G|ABCC4_ENST00000536256.1_Silent_p.G117G|ABCC4_ENST00000431522.1_Silent_p.G192G|ABCC4_ENST00000538287.1_3'UTR NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 192 ABC transmembrane type-1 1. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) TGACTATCTGGCCTGTGGTTG 0.438 6 42 --- --- --- --- AHNAK2 113146 broad.mit.edu 37 14 105407424 105407424 + Missense_Mutation SNP C C G TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr14:105407424C>G ENST00000333244.5 - 7 14483 c.14364G>C c.(14362-14364)gaG>gaC p.E4788D AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4788 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GTGTAACATCCTCACAGGGAG 0.498 36 80 --- --- --- --- SEC14L5 9717 broad.mit.edu 37 16 5038194 5038194 + Silent SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr16:5038194G>A ENST00000251170.7 + 4 438 c.258G>A c.(256-258)ttG>ttA p.L86L NM_014692.1 NP_055507.1 O43304 S14L5_HUMAN SEC14-like 5 (S. cerevisiae) 86 PRELI/MSF1. integral to membrane|intracellular transporter activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1) 29 CAAACATCTTGAACTGGAAGG 0.622 18 35 --- --- --- --- FHOD1 29109 broad.mit.edu 37 16 67264087 67264087 + Silent SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr16:67264087G>A ENST00000258201.4 - 20 3343 c.3096C>T c.(3094-3096)ccC>ccT p.P1032P NM_013241.2 NP_037373.2 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 1032 actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) CTGGGACAGAGGGGTTGCTGG 0.597 53 103 --- --- --- --- GGN 199720 broad.mit.edu 37 19 38876987 38876987 + Silent SNP A A G TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr19:38876987A>G ENST00000334928.6 - 3 1047 c.915T>C c.(913-915)gtT>gtC p.V305V GGN_ENST00000591809.1_Intron|AC005789.9_ENST00000585411.1_RNA NM_152657.3 NP_689870.3 Q86UU5 GGN_HUMAN gametogenetin 305 Interaction with GGNBP1 (By similarity).|Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) CCCCTCGAGAAACCTCTCCCA 0.697 4 39 --- --- --- --- NOVA2 4858 broad.mit.edu 37 19 46457064 46457064 + Missense_Mutation SNP T T A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr19:46457064T>A ENST00000263257.5 - 3 564 c.370A>T c.(370-372)Acg>Tcg p.T124S NM_002516.2 NP_002507.1 Q9UNW9 NOVA2_HUMAN neuro-oncological ventral antigen 2 124 nucleus RNA binding endometrium(3)|large_intestine(5)|lung(13) 21 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179) GGGTTCATCGTGGTTTGGGGT 0.527 61 144 --- --- --- --- EVI5 7813 broad.mit.edu 37 1 92979385 92979385 + Frame_Shift_Del DEL C C - rs146602523 TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed362be8-54d4-4532-9d4a-ad760592aef1 ce43974e-70a9-4f22-9686-f0462c597acb g.chr1:92979385delC ENST00000370331.1 - 18 2270 c.2261delG c.(2260-2262)ggtfs p.G754fs EVI5_ENST00000540033.1_Frame_Shift_Del_p.G754fs|EVI5_ENST00000543509.1_Frame_Shift_Del_p.G765fs NM_005665.4 NP_005656.4 O60447 EVI5_HUMAN ecotropic viral integration site 5 754 Interaction with AURKB and INCENP.|Targeting to the centrosomes. cell cycle|cell division|cell proliferation|multicellular organismal development microtubule organizing center|nucleus|spindle protein binding|Rab GTPase activator activity breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1) 38 all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203) Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211) AAAACCAACACCAGTTTCCTG 0.433 36 79 --- --- --- ---