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 CD5L 922 broad.mit.edu 37 1 157804497 157804497 + Missense_Mutation SNP G G T TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr1:157804497G>T ENST00000368174.4 - 4 514 c.418C>A c.(418-420)Ctg>Atg p.L140M NM_005894.2 NP_005885.1 O43866 CD5L_HUMAN CD5 molecule-like 140 SRCR 2. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity p.L140L(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 52 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CCGTCAGCCAGCCTGACACCC 0.582 10 43 --- --- --- --- SLC19A2 10560 broad.mit.edu 37 1 169438005 169438005 + Missense_Mutation SNP G G A TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr1:169438005G>A ENST00000236137.5 - 4 1336 c.1100C>T c.(1099-1101)tCt>tTt p.S367F SLC19A2_ENST00000367804.4_Missense_Mutation_p.S166F NM_006996.2 NP_008927.1 O60779 S19A2_HUMAN solute carrier family 19 (thiamine transporter), member 2 367 thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1) 11 all_hematologic(923;0.208) AGAAAAGAGAGATAATGTCAT 0.383 4 82 --- --- --- --- C2orf16 84226 broad.mit.edu 37 2 27802537 27802537 + Missense_Mutation SNP C C T TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr2:27802537C>T ENST00000408964.2 + 1 3149 c.3098C>T c.(3097-3099)tCc>tTc p.S1033F NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 1033 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) TCAGAGTCTTCCCTCAGCATA 0.453 18 74 --- --- --- --- SF3B1 23451 broad.mit.edu 37 2 198266711 198266711 + Missense_Mutation SNP T T C TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr2:198266711T>C ENST00000335508.6 - 15 2312 c.2221A>G c.(2221-2223)Aag>Gag p.K741E NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) GGATTTACCTTTCCTCTGTGT 0.353 Mis myelodysplastic syndrome 21 48 --- --- --- --- ADAMTS3 9508 broad.mit.edu 37 4 73186558 73186558 + Silent SNP T T A TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr4:73186558T>A ENST00000286657.4 - 7 1011 c.975A>T c.(973-975)ccA>ccT p.P325P NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 325 Peptidase M12B. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) AGCTTCTGGATGGGTTTCCCC 0.438 13 48 --- --- --- --- SLC25A27 9481 broad.mit.edu 37 6 46637938 46637938 + Missense_Mutation SNP G G T TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr6:46637938G>T ENST00000371347.5 + 7 1023 c.771G>T c.(769-771)atG>atT p.M257I SLC25A27_ENST00000452689.2_Missense_Mutation_p.M171I|SLC25A27_ENST00000411689.2_Intron|SLC25A27_ENST00000604908.1_3'UTR NM_001204051.1|NM_004277.4 NP_001190980.1|NP_004268.3 O95847 UCP4_HUMAN solute carrier family 25, member 27 257 generation of precursor metabolites and energy|transport integral to membrane|mitochondrial inner membrane central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1) 8 Lung(136;0.192) GCAGAATAATGAATCAACCAC 0.348 4 58 --- --- --- --- GSTA2 2939 broad.mit.edu 37 6 52619834 52619834 + Missense_Mutation SNP A A G TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr6:52619834A>G ENST00000493422.1 - 4 334 c.179T>C c.(178-180)aTt>aCt p.I60T NM_000846.4 NP_000837.3 P09210 GSTA2_HUMAN glutathione S-transferase alpha 2 60 GST N-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(77;0.118) Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163) CATCCCATCAATCTCAACCAT 0.428 10 182 --- --- --- --- PLOD3 8985 broad.mit.edu 37 7 100859736 100859736 + Missense_Mutation SNP T T C TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr7:100859736T>C ENST00000223127.3 - 3 691 c.293A>G c.(292-294)gAg>gGg p.E98G NM_001084.4 NP_001075.1 O60568 PLOD3_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 98 protein modification process rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 31 Lung NSC(181;0.168)|all_lung(186;0.215) Succinic acid(DB00139)|Vitamin C(DB00126) AGCGTATTTCTCCATTTCCTT 0.567 11 38 --- --- --- --- OR56A3 390083 broad.mit.edu 37 11 5969418 5969418 + Missense_Mutation SNP A A G TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr11:5969418A>G ENST00000329564.6 + 1 849 c.842A>G c.(841-843)aAt>aGt p.N281S NM_001003443.2 NP_001003443.2 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, member 3 281 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1) 41 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTCTTGCTCAATGTTCTCCAC 0.478 27 93 --- --- --- --- ARNTL2 56938 broad.mit.edu 37 12 27553667 27553667 + Missense_Mutation SNP C C G TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr12:27553667C>G ENST00000544915.1 + 9 1237 c.1018C>G c.(1018-1020)Cgg>Ggg p.R340G ARNTL2_ENST00000395901.2_Missense_Mutation_p.R337G|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000311001.5_Missense_Mutation_p.R360G|ARNTL2_ENST00000542388.1_Missense_Mutation_p.R289G|ARNTL2_ENST00000266503.5_Missense_Mutation_p.R374G|ARNTL2_ENST00000546179.1_Missense_Mutation_p.R337G|ARNTL2_ENST00000261178.5_Missense_Mutation_p.R326G NM_020183.4 NP_064568.3 Q8WYA1 BMAL2_HUMAN aryl hydrocarbon receptor nuclear translocator-like 2 374 N -> S (in dbSNP:rs1037921). circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 21 Colorectal(261;0.0847)|Lung SC(9;0.184) ATTTATAACCCGGTTTGCAGT 0.343 15 62 --- --- --- --- KTN1 3895 broad.mit.edu 37 14 56079014 56079014 + Missense_Mutation SNP A A G TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr14:56079014A>G ENST00000416613.1 + 1 320 c.248A>G c.(247-249)gAc>gGc p.D83G KTN1_ENST00000395314.3_Missense_Mutation_p.D83G|KTN1_ENST00000395311.1_Missense_Mutation_p.D83G|KTN1_ENST00000413890.2_Missense_Mutation_p.D83G|KTN1_ENST00000395308.1_Missense_Mutation_p.D83G|KTN1_ENST00000395309.3_Missense_Mutation_p.D83G|KTN1_ENST00000438792.2_Missense_Mutation_p.D83G Q86UP2 KTN1_HUMAN kinectin 1 (kinesin receptor) 83 microtubule-based movement endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 19 GTACCTCGAGACTTTAAATTA 0.358 T RET papillary thryoid 14 53 --- --- --- --- TELO2 9894 broad.mit.edu 37 16 1556991 1556991 + Missense_Mutation SNP T T C TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr16:1556991T>C ENST00000262319.6 + 18 2444 c.2165T>C c.(2164-2166)cTg>cCg p.L722P NM_016111.3 NP_057195.2 Q9Y4R8 TELO2_HUMAN telomere maintenance 2 722 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 19 Hepatocellular(780;0.219) GAAGACCAGCTGGTTCTCGGA 0.652 4 9 --- --- --- --- GPR142 350383 broad.mit.edu 37 17 72363725 72363725 + Silent SNP T T C TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr17:72363725T>C ENST00000335666.4 + 1 129 c.81T>C c.(79-81)ggT>ggC p.G27G NM_181790.1 NP_861455.1 Q7Z601 GP142_HUMAN G protein-coupled receptor 142 27 cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4) 35 CTGTCCTGGGTACAGAAGCAT 0.507 12 40 --- --- --- --- ICT1 3396 broad.mit.edu 37 17 73016712 73016712 + Missense_Mutation SNP A A C TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr17:73016712A>C ENST00000301585.5 + 5 509 c.496A>C c.(496-498)Aag>Cag p.K166Q NM_001545.1 NP_001536.1 Q14197 ICT1_HUMAN immature colon carcinoma transcript 1 166 mitochondrial translational termination mitochondrial large ribosomal subunit aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1) 6 all_lung(278;0.226) CCAGACACCGAAGGAGCCAAC 0.468 3 56 --- --- --- --- HOOK2 29911 broad.mit.edu 37 19 12875684 12875684 + Missense_Mutation SNP C C T TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr19:12875684C>T ENST00000264827.5 - 19 1935 c.1765G>A c.(1765-1767)Gcg>Acg p.A589T HOOK2_ENST00000397668.3_Missense_Mutation_p.A591T NM_001100176.1 NP_001093646.1 Q96ED9 HOOK2_HUMAN hook microtubule-tethering protein 2 591 Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CEP110. early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport centrosome|FHF complex|microtubule identical protein binding|microtubule binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1) 20 CGCAAGTCCGCGTCCTTCTTC 0.647 OREG0025273 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 104 --- --- --- --- ZNF155 7711 broad.mit.edu 37 19 44495748 44495748 + Missense_Mutation SNP C C G TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr19:44495748C>G ENST00000270014.2 + 3 192 c.64C>G c.(64-66)Ctg>Gtg p.L22V ZNF155_ENST00000407951.2_Missense_Mutation_p.L33V|ZNF155_ENST00000590615.1_Missense_Mutation_p.L22V NM_001260487.1|NM_198089.2 NP_001247416|NP_932355 Q12901 ZN155_HUMAN zinc finger protein 155 22 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 15 Prostate(69;0.0352) TGAGGAGGAGCTGGGGCTGCT 0.532 5 178 --- --- --- --- CCNI 10983 broad.mit.edu 37 4 77969728 77969728 + Frame_Shift_Del DEL A A - TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr4:77969728delA ENST00000237654.4 - 7 1354 c.778delT c.(778-780)tatfs p.Y260fs CCNI_ENST00000537948.1_Frame_Shift_Del_p.Y246fs NM_006835.2 NP_006826.1 Q14094 CCNI_HUMAN cyclin I 260 spermatogenesis NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 9 CGGTAGACATAAACGGAATTC 0.527 9 54 --- --- --- --- LIFR 3977 broad.mit.edu 37 5 38482128 38482129 + Frame_Shift_Ins INS - - A TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr5:38482128_38482129insA ENST00000263409.4 - 20 3024_3025 c.2862_2863insT c.(2860-2865)attgagfs p.E955fs LIFR_ENST00000453190.2_Frame_Shift_Ins_p.E955fs NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 955 positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) ATTTCTTCCTCAATGATGGGTG 0.460 T PLAG1 salivary adenoma 7 162 --- --- --- --- ILF3 3609 broad.mit.edu 37 19 10781285 10781286 + Splice_Site INS - - T rs111709385 TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr19:10781285_10781286insT ENST00000449870.1 + 2 320 c.e2+1 ILF3_ENST00000407004.3_Splice_Site|ILF3_ENST00000588657.1_Splice_Site|ILF3_ENST00000250241.8_Splice_Site|ILF3_ENST00000589998.1_Splice_Site|ILF3_ENST00000420083.1_Splice_Site|ILF3_ENST00000590261.1_Splice_Site|ILF3_ENST00000318511.3_Splice_Site|ILF3_ENST00000592763.1_Splice_Site NM_017620.2 NP_060090.2 Q12906 ILF3_HUMAN interleukin enhancer binding factor 3, 90kDa M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleolus|ribonucleoprotein complex DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(33;6.86e-06)|all cancers(31;1.65e-05) AGTAAAAATGGTAAGTTTGTTT 0.332 9 52 --- --- --- ---