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 AGL 178 broad.mit.edu 37 1 100327247 100327247 + Missense_Mutation SNP T T C TCGA-CH-5753-01A-11D-1576-08 TCGA-CH-5753-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05a8fbba-61ac-42a4-b375-87f3a671446b c1987c4d-84f8-4464-93ad-7e53fd4a6a11 g.chr1:100327247T>C ENST00000294724.4 + 3 749 c.271T>C c.(271-273)Ttt>Ctt p.F91L AGL_ENST00000361302.3_Missense_Mutation_p.F75L|AGL_ENST00000370163.3_Missense_Mutation_p.F91L|AGL_ENST00000370165.3_Missense_Mutation_p.F91L|AGL_ENST00000361915.3_Missense_Mutation_p.F91L|AGL_ENST00000361522.4_Missense_Mutation_p.F74L|AGL_ENST00000370161.2_Missense_Mutation_p.F75L NM_000028.2 NP_000019.2 P35573 GDE_HUMAN amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 91 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding p.F91L(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) ATCTGGTTCATTTCAGTATTA 0.313 37 108 --- --- --- --- NHLH2 4808 broad.mit.edu 37 1 116380707 116380707 + Missense_Mutation SNP G G T TCGA-CH-5753-01A-11D-1576-08 TCGA-CH-5753-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05a8fbba-61ac-42a4-b375-87f3a671446b c1987c4d-84f8-4464-93ad-7e53fd4a6a11 g.chr1:116380707G>T ENST00000369506.1 - 1 5831 c.287C>A c.(286-288)gCc>gAc p.A96D NHLH2_ENST00000320238.3_Missense_Mutation_p.A96D Q02577 HEN2_HUMAN nescient helix loop helix 2 96 Helix-loop-helix motif. cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.A96D(1) prostate(1) 1 Lung SC(450;0.184) all_cancers(81;1.75e-06)|all_epithelial(167;1.16e-06)|all_lung(203;9.55e-06)|Lung NSC(69;5.83e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) CTCGGCGAAGGCCAAGTTGAA 0.672 3 14 --- --- --- --- TDRKH 11022 broad.mit.edu 37 1 151751596 151751596 + Missense_Mutation SNP C C G TCGA-CH-5753-01A-11D-1576-08 TCGA-CH-5753-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05a8fbba-61ac-42a4-b375-87f3a671446b c1987c4d-84f8-4464-93ad-7e53fd4a6a11 g.chr1:151751596C>G ENST00000368822.1 - 5 1177 c.544G>C c.(544-546)Gaa>Caa p.E182Q TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000368824.3_Missense_Mutation_p.E182Q|TDRKH_ENST00000458431.2_Missense_Mutation_p.E182Q|TDRKH_ENST00000368827.6_Missense_Mutation_p.E182Q|TDRKH_ENST00000368823.1_Missense_Mutation_p.E178Q|TDRKH_ENST00000368825.3_Missense_Mutation_p.E137Q Q9Y2W6 TDRKH_HUMAN tudor and KH domain containing 182 KH 2. RNA binding p.E182Q(1) breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) GCTGCCACTTCCTTCTGTGTT 0.398 98 293 --- --- --- --- BCAN 63827 broad.mit.edu 37 1 156616762 156616762 + Missense_Mutation SNP G G T TCGA-CH-5753-01A-11D-1576-08 TCGA-CH-5753-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05a8fbba-61ac-42a4-b375-87f3a671446b c1987c4d-84f8-4464-93ad-7e53fd4a6a11 g.chr1:156616762G>T ENST00000329117.5 + 3 597 c.261G>T c.(259-261)gaG>gaT p.E87D RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.E87D NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican Ig-like V-type. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding p.E87D(1) cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GGGGCCGGGAGGCAGAGGTGC 0.706 4 60 --- --- --- --- FAM163A 148753 broad.mit.edu 37 1 179782917 179782917 + Missense_Mutation SNP T T C TCGA-CH-5753-01A-11D-1576-08 TCGA-CH-5753-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05a8fbba-61ac-42a4-b375-87f3a671446b c1987c4d-84f8-4464-93ad-7e53fd4a6a11 g.chr1:179782917T>C ENST00000341785.4 + 5 493 c.97T>C c.(97-99)Tac>Cac p.Y33H NM_173509.2 NP_775780.1 Q96GL9 F163A_HUMAN family with sequence similarity 163, member A 33 integral to membrane p.Y33H(1) endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1) 15 CGCACAGTATTACTGCTGCAA 0.627 8 59 --- --- --- --- LRP1B 53353 broad.mit.edu 37 2 141473656 141473656 + Missense_Mutation SNP G G T TCGA-CH-5753-01A-11D-1576-08 TCGA-CH-5753-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05a8fbba-61ac-42a4-b375-87f3a671446b c1987c4d-84f8-4464-93ad-7e53fd4a6a11 g.chr2:141473656G>T ENST00000389484.3 - 37 6880 c.5909C>A c.(5908-5910)aCa>aAa p.T1970K NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1970 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.T1970K(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ACCATGATCTGTCCAATATAT 0.318 TSP Lung(27;0.18) 22 344 --- --- --- --- PLK4 10733 broad.mit.edu 37 4 128814966 128814966 + Missense_Mutation SNP G G A TCGA-CH-5753-01A-11D-1576-08 TCGA-CH-5753-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05a8fbba-61ac-42a4-b375-87f3a671446b c1987c4d-84f8-4464-93ad-7e53fd4a6a11 g.chr4:128814966G>A ENST00000270861.5 + 13 2766 c.2492G>A c.(2491-2493)aGa>aAa p.R831K PLK4_ENST00000513090.1_Missense_Mutation_p.R799K|PLK4_ENST00000514379.1_Missense_Mutation_p.R790K|PLK4_ENST00000515069.1_Missense_Mutation_p.R753K|PLK4_ENST00000507249.1_Missense_Mutation_p.R770K NM_014264.4 NP_055079.3 O00444 PLK4_HUMAN polo-like kinase 4 831 G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation centriole|cleavage furrow|cytosol|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R831K(2) central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 31 ACGAGAGAGAGAGCATCTTTC 0.418 9 306 --- --- --- --- F11 2160 broad.mit.edu 37 4 187197050 187197050 + Splice_Site SNP G G T TCGA-CH-5753-01A-11D-1576-08 TCGA-CH-5753-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05a8fbba-61ac-42a4-b375-87f3a671446b c1987c4d-84f8-4464-93ad-7e53fd4a6a11 g.chr4:187197050G>T ENST00000264692.4 + 6 772 c.439G>T c.(439-441)Gct>Tct p.A147S F11_ENST00000403665.2_Splice_Site_p.A199S P03951 FA11_HUMAN coagulation factor XI 199 Apple 2. blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis extracellular space|plasma membrane heparin binding|serine-type endopeptidase activity p.A199S(1) NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 32 all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176) Coagulation Factor IX(DB00100) TTCTAATCTGGGTAATTATCG 0.408 18 40 --- --- --- --- SKIV2L2 23517 broad.mit.edu 37 5 54603876 54603876 + Missense_Mutation SNP T T A TCGA-CH-5753-01A-11D-1576-08 TCGA-CH-5753-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05a8fbba-61ac-42a4-b375-87f3a671446b c1987c4d-84f8-4464-93ad-7e53fd4a6a11 g.chr5:54603876T>A ENST00000230640.5 + 1 289 c.35T>A c.(34-36)gTg>gAg p.V12E SKIV2L2_ENST00000504388.1_3'UTR|SKIV2L2_ENST00000545714.1_5'UTR NM_015360.4 NP_056175.3 P42285 SK2L2_HUMAN superkiller viralicidic activity 2-like 2 (S. cerevisiae) 12 maturation of 5.8S rRNA catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding p.V12E(1) NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194) CTGTTCAGCGTGTTCGAGGGC 0.582 23 110 --- --- --- --- NR2F1 7025 broad.mit.edu 37 5 92923847 92923847 + Missense_Mutation SNP G G A TCGA-CH-5753-01A-11D-1576-08 TCGA-CH-5753-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05a8fbba-61ac-42a4-b375-87f3a671446b c1987c4d-84f8-4464-93ad-7e53fd4a6a11 g.chr5:92923847G>A ENST00000327111.3 + 2 2375 c.688G>A c.(688-690)Gcc>Acc p.A230T NM_005654.4 NP_005645.1 P10589 COT1_HUMAN nuclear receptor subfamily 2, group F, member 1 230 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding p.A230T(1) NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 21 all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18) GCTCTTCAGCGCCGTCGAGTG 0.637 14 105 --- --- --- --- FAM135A 57579 broad.mit.edu 37 6 71232237 71232237 + Missense_Mutation SNP T T G TCGA-CH-5753-01A-11D-1576-08 TCGA-CH-5753-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05a8fbba-61ac-42a4-b375-87f3a671446b c1987c4d-84f8-4464-93ad-7e53fd4a6a11 g.chr6:71232237T>G ENST00000418814.2 + 13 1665 c.1051T>G c.(1051-1053)Ttc>Gtc p.F351V FAM135A_ENST00000505769.1_Missense_Mutation_p.F351V|FAM135A_ENST00000361499.3_Missense_Mutation_p.F351V|FAM135A_ENST00000457062.2_Missense_Mutation_p.F334V|FAM135A_ENST00000505868.1_Missense_Mutation_p.F351V|FAM135A_ENST00000370479.3_Missense_Mutation_p.F334V NM_001105531.2|NM_001162529.1 NP_001099001.1|NP_001156001.1 Q9P2D6 F135A_HUMAN family with sequence similarity 135, member A 351 p.F351V(1)|p.F334V(1) breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 TTCTGAGGCATTCTTTTGTTT 0.333 72 192 --- --- --- --- FDFT1 2222 broad.mit.edu 37 8 11667248 11667248 + Silent SNP G G A TCGA-CH-5753-01A-11D-1576-08 TCGA-CH-5753-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05a8fbba-61ac-42a4-b375-87f3a671446b c1987c4d-84f8-4464-93ad-7e53fd4a6a11 g.chr8:11667248G>A ENST00000220584.4 + 3 492 c.270G>A c.(268-270)gtG>gtA p.V90V FDFT1_ENST00000528643.1_Silent_p.V5V|FDFT1_ENST00000538689.1_5'UTR|FDFT1_ENST00000443614.2_Silent_p.V90V|FDFT1_ENST00000528812.1_Silent_p.V26V|FDFT1_ENST00000525777.1_Silent_p.V5V|FDFT1_ENST00000530664.1_Silent_p.V26V|FDFT1_ENST00000525900.1_Silent_p.V83V|FDFT1_ENST00000446331.2_Intron NM_004462.3 NP_004453.3 P37268 FDFT_HUMAN farnesyl-diphosphate farnesyltransferase 1 90 cholesterol biosynthetic process|isoprenoid biosynthetic process endoplasmic reticulum membrane|integral to membrane farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity p.V90V(1) breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2) 12 all_epithelial(15;0.234) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.18) CCATCAGTGTGGAAAAGAAGG 0.463 6 95 --- --- --- --- MCM4 4173 broad.mit.edu 37 8 48878815 48878815 + Missense_Mutation SNP G G A TCGA-CH-5753-01A-11D-1576-08 TCGA-CH-5753-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05a8fbba-61ac-42a4-b375-87f3a671446b c1987c4d-84f8-4464-93ad-7e53fd4a6a11 g.chr8:48878815G>A ENST00000262105.2 + 8 1110 c.901G>A c.(901-903)Gag>Aag p.E301K MCM4_ENST00000523944.1_Missense_Mutation_p.E301K NM_005914.3 NP_005905.2 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 301 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding p.E301K(1) biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 44 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) CGAGATGCAGGAGGCCTTCTT 0.617 93 76 --- --- --- --- CSMD3 114788 broad.mit.edu 37 8 113277665 113277665 + Nonsense_Mutation SNP C C T TCGA-CH-5753-01A-11D-1576-08 TCGA-CH-5753-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05a8fbba-61ac-42a4-b375-87f3a671446b c1987c4d-84f8-4464-93ad-7e53fd4a6a11 g.chr8:113277665C>T ENST00000297405.5 - 60 9907 c.9663G>A c.(9661-9663)tgG>tgA p.W3221* CSMD3_ENST00000343508.3_Nonsense_Mutation_p.W3181*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.W3052*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.W3151* NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3221 Sushi 24. integral to membrane|plasma membrane p.W3221*(1)|p.T3214_W3221del(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TTACTCCACTCCATGTGCCAT 0.338 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 104 288 --- --- --- --- TTLL11 158135 broad.mit.edu 37 9 124751554 124751554 + Missense_Mutation SNP C C A TCGA-CH-5753-01A-11D-1576-08 TCGA-CH-5753-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05a8fbba-61ac-42a4-b375-87f3a671446b c1987c4d-84f8-4464-93ad-7e53fd4a6a11 g.chr9:124751554C>A ENST00000321582.5 - 4 1646 c.1459G>T c.(1459-1461)Gtc>Ttc p.V487F TTLL11_ENST00000373776.3_Missense_Mutation_p.V487F|TTLL11_ENST00000474723.1_5'UTR NM_001139442.1 NP_001132914.1 Q8NHH1 TTL11_HUMAN tubulin tyrosine ligase-like family, member 11 487 TTL. protein modification process cilium|microtubule basal body tubulin-tyrosine ligase activity p.V487F(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1) 18 AGCGCGATGACCGTCTTAATC 0.532 25 239 --- --- --- --- LCN8 138307 broad.mit.edu 37 9 139651558 139651558 + Silent SNP C C T TCGA-CH-5753-01A-11D-1576-08 TCGA-CH-5753-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05a8fbba-61ac-42a4-b375-87f3a671446b c1987c4d-84f8-4464-93ad-7e53fd4a6a11 g.chr9:139651558C>T ENST00000371688.3 - 2 382 c.87G>A c.(85-87)ccG>ccA p.P29P LCN8_ENST00000482893.1_5'UTR NM_178469.3 NP_848564.2 Q6JVE9 LCN8_HUMAN lipocalin 8 52 transport extracellular region binding p.P29P(1) endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1) 10 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05) CCACCCGCTTCGGGGCCGTCA 0.587 4 49 --- --- --- --- ANKRD30A 91074 broad.mit.edu 37 10 37508619 37508619 + Missense_Mutation SNP C C A TCGA-CH-5753-01A-11D-1576-08 TCGA-CH-5753-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05a8fbba-61ac-42a4-b375-87f3a671446b c1987c4d-84f8-4464-93ad-7e53fd4a6a11 g.chr10:37508619C>A ENST00000374660.1 + 40 4267 c.4168C>A c.(4168-4170)Caa>Aaa p.Q1390K ANKRD30A_ENST00000361713.1_Missense_Mutation_p.Q1271K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.Q1271K Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1327 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.Q1271K(1) NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 ATTTCAACTACAAAGCAAAAA 0.338 7 78 --- --- --- --- MLEC 9761 broad.mit.edu 37 12 121132062 121132062 + Missense_Mutation SNP C C A TCGA-CH-5753-01A-11D-1576-08 TCGA-CH-5753-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05a8fbba-61ac-42a4-b375-87f3a671446b c1987c4d-84f8-4464-93ad-7e53fd4a6a11 g.chr12:121132062C>A ENST00000228506.3 + 2 832 c.404C>A c.(403-405)tCc>tAc p.S135Y MLEC_ENST00000412616.2_Missense_Mutation_p.S135Y NM_014730.2 NP_055545.1 Q14165 MLEC_HUMAN malectin 135 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane carbohydrate binding p.S135Y(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 16 TTTGCACAGTCCCAGCAAAAG 0.522 37 87 --- --- --- --- NYNRIN 57523 broad.mit.edu 37 14 24878180 24878180 + Missense_Mutation SNP C C A TCGA-CH-5753-01A-11D-1576-08 TCGA-CH-5753-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05a8fbba-61ac-42a4-b375-87f3a671446b c1987c4d-84f8-4464-93ad-7e53fd4a6a11 g.chr14:24878180C>A ENST00000382554.3 + 4 1498 c.1180C>A c.(1180-1182)Cag>Aag p.Q394K NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 394 DNA integration integral to membrane DNA binding p.Q394K(1) breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 CCCCTTCTGGCAGAGACCTCT 0.567 11 34 --- --- --- --- NRXN3 9369 broad.mit.edu 37 14 80271470 80271470 + Missense_Mutation SNP C C A TCGA-CH-5753-01A-11D-1576-08 TCGA-CH-5753-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05a8fbba-61ac-42a4-b375-87f3a671446b c1987c4d-84f8-4464-93ad-7e53fd4a6a11 g.chr14:80271470C>A ENST00000281127.7 + 5 1804 c.925C>A c.(925-927)Ctt>Att p.L309I NRXN3_ENST00000335750.5_Missense_Mutation_p.L941I|NRXN3_ENST00000557594.1_Missense_Mutation_p.L309I|NRXN3_ENST00000428277.2_Missense_Mutation_p.L339I|NRXN3_ENST00000554719.1_Missense_Mutation_p.L941I|NRXN3_ENST00000556003.1_Intron NM_138970.3 NP_620426.2 Q9HDB5 NRX3B_HUMAN neurexin 3 309 angiogenesis|cell adhesion integral to membrane p.L941I(1)|p.L339I(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) ATCAGATGATCTTGTTTCATC 0.383 9 228 --- --- --- --- RYR3 6263 broad.mit.edu 37 15 33835896 33835896 + Silent SNP C C T TCGA-CH-5753-01A-11D-1576-08 TCGA-CH-5753-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05a8fbba-61ac-42a4-b375-87f3a671446b c1987c4d-84f8-4464-93ad-7e53fd4a6a11 g.chr15:33835896C>T ENST00000389232.4 + 8 790 c.720C>T c.(718-720)gaC>gaT p.D240D RYR3_ENST00000415757.3_Silent_p.D240D NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 240 MIR 3. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.D240D(2) NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CATCTACAGACCAGAATGATT 0.398 46 262 --- --- --- --- STRC 161497 broad.mit.edu 37 15 43896963 43896963 + Nonsense_Mutation SNP G G A TCGA-CH-5753-01A-11D-1576-08 TCGA-CH-5753-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05a8fbba-61ac-42a4-b375-87f3a671446b c1987c4d-84f8-4464-93ad-7e53fd4a6a11 g.chr15:43896963G>A ENST00000450892.2 - 20 4089 c.4012C>T c.(4012-4014)Cga>Tga p.R1338* STRC_ENST00000541030.1_Nonsense_Mutation_p.R565* NM_153700.2 NP_714544.1 Q7RTU9 STRC_HUMAN stereocilin 1338 sensory perception of sound cell surface p.R1338*(1) skin(4) 4 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) GGGATCTGTCGTGTGCTCTCT 0.552 44 50 --- --- --- --- CEP152 22995 broad.mit.edu 37 15 49036526 49036526 + Missense_Mutation SNP C C T TCGA-CH-5753-01A-11D-1576-08 TCGA-CH-5753-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05a8fbba-61ac-42a4-b375-87f3a671446b c1987c4d-84f8-4464-93ad-7e53fd4a6a11 g.chr15:49036526C>T ENST00000380950.2 - 24 3933 c.3746G>A c.(3745-3747)gGg>gAg p.G1249E CEP152_ENST00000325747.5_Missense_Mutation_p.G1156E|CEP152_ENST00000399334.3_Missense_Mutation_p.G1193E NM_001194998.1|NM_014985.3 NP_001181927.1|NP_055800.2 O94986 CE152_HUMAN centrosomal protein 152kDa 1193 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding p.G1193E(1) breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2) 63 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) TTCAATGGCCCCTGCTGACAA 0.338 47 58 --- --- --- --- VPS13C 54832 broad.mit.edu 37 15 62266506 62266506 + Missense_Mutation SNP G G A TCGA-CH-5753-01A-11D-1576-08 TCGA-CH-5753-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05a8fbba-61ac-42a4-b375-87f3a671446b c1987c4d-84f8-4464-93ad-7e53fd4a6a11 g.chr15:62266506G>A ENST00000261517.5 - 25 2592 c.2519C>T c.(2518-2520)gCc>gTc p.A840V VPS13C_ENST00000395896.4_Missense_Mutation_p.A840V|VPS13C_ENST00000395898.3_Missense_Mutation_p.A797V|VPS13C_ENST00000249837.3_Missense_Mutation_p.A797V NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 840 protein localization p.A840V(1) NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 TGGAGACTGGGCTGATGATTT 0.373 82 140 --- --- --- --- ACAN 176 broad.mit.edu 37 15 89386657 89386657 + Missense_Mutation SNP G G A TCGA-CH-5753-01A-11D-1576-08 TCGA-CH-5753-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05a8fbba-61ac-42a4-b375-87f3a671446b c1987c4d-84f8-4464-93ad-7e53fd4a6a11 g.chr15:89386657G>A ENST00000439576.2 + 6 1203 c.829G>A c.(829-831)Ggt>Agt p.G277S ACAN_ENST00000558207.1_Missense_Mutation_p.G277S|ACAN_ENST00000559004.1_Missense_Mutation_p.G277S|ACAN_ENST00000561243.1_Missense_Mutation_p.G277S|ACAN_ENST00000352105.7_Missense_Mutation_p.G277S NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 277 cell adhesion hyaluronic acid binding|sugar binding p.G277S(2) NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CCGGCGGCTGGGTGCCCGGCT 0.647 6 13 --- --- --- --- TCEB2 6923 broad.mit.edu 37 16 2827129 2827129 + Splice_Site SNP C C T TCGA-CH-5753-01A-11D-1576-08 TCGA-CH-5753-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05a8fbba-61ac-42a4-b375-87f3a671446b c1987c4d-84f8-4464-93ad-7e53fd4a6a11 g.chr16:2827129C>T ENST00000409906.4 - 2 61 c.e2-1 TCEB2_ENST00000262306.7_Splice_Site|TCEB2_ENST00000572954.1_Splice_Site|TCEB2_ENST00000409477.1_5'UTR NM_007108.3 NP_009039.1 Q15370 ELOB_HUMAN transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B) positive regulation of viral transcription|protein complex assembly|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction cytosol|nucleoplasm protein binding p.?(1) endometrium(2)|prostate(1) 3 GGAACACGTCCTGGGGGCGGC 0.756 7 10 --- --- --- --- ABCC12 94160 broad.mit.edu 37 16 48121966 48121966 + Missense_Mutation SNP C C T TCGA-CH-5753-01A-11D-1576-08 TCGA-CH-5753-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05a8fbba-61ac-42a4-b375-87f3a671446b c1987c4d-84f8-4464-93ad-7e53fd4a6a11 g.chr16:48121966C>T ENST00000311303.3 - 25 3851 c.3506G>A c.(3505-3507)cGt>cAt p.R1169H ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_3'UTR NM_033226.2 NP_150229.2 Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 1169 ABC transporter 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.R1169H(1) NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) CTCCACCAGACGAAACAAAGC 0.433 27 32 --- --- --- --- TLK2 11011 broad.mit.edu 37 17 60654069 60654069 + Splice_Site SNP G G A TCGA-CH-5753-01A-11D-1576-08 TCGA-CH-5753-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05a8fbba-61ac-42a4-b375-87f3a671446b c1987c4d-84f8-4464-93ad-7e53fd4a6a11 g.chr17:60654069G>A ENST00000582809.1 + 14 1377 c.e14-1 TLK2_ENST00000542523.1_Splice_Site|TLK2_ENST00000343388.7_Splice_Site|TLK2_ENST00000326270.9_Splice_Site|TLK2_ENST00000346027.5_Splice_Site Q86UE8 TLK2_HUMAN tousled-like kinase 2 cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity p.?(3) NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1) 39 CTGTTTTTCAGGTTAACGTTA 0.313 9 271 --- --- --- --- NDC80 10403 broad.mit.edu 37 18 2610828 2610828 + Missense_Mutation SNP G G A TCGA-CH-5753-01A-11D-1576-08 TCGA-CH-5753-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05a8fbba-61ac-42a4-b375-87f3a671446b c1987c4d-84f8-4464-93ad-7e53fd4a6a11 g.chr18:2610828G>A ENST00000261597.4 + 16 1941 c.1759G>A c.(1759-1761)Gag>Aag p.E587K NM_006101.2 NP_006092.1 O14777 NDC80_HUMAN NDC80 kinetochore complex component 587 Interaction with NEK2 and ZWINT.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex. attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex protein binding p.E587K(1) NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2) 22 ACGTCTGTTAGAGATGGTTGC 0.373 14 255 --- --- --- --- LMAN1 3998 broad.mit.edu 37 18 57006162 57006162 + Missense_Mutation SNP C C T TCGA-CH-5753-01A-11D-1576-08 TCGA-CH-5753-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05a8fbba-61ac-42a4-b375-87f3a671446b c1987c4d-84f8-4464-93ad-7e53fd4a6a11 g.chr18:57006162C>T ENST00000251047.5 - 9 1696 c.979G>A c.(979-981)Gga>Aga p.G327R NM_005570.3 NP_005561.1 P49257 LMAN1_HUMAN lectin, mannose-binding, 1 327 blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane mannose binding|metal ion binding|unfolded protein binding p.G327R(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Colorectal(73;0.0946) Antihemophilic Factor(DB00025) TCTCGATCTCCTACACTCTCA 0.368 41 178 --- --- --- --- GABRE 2564 broad.mit.edu 37 X 151138738 151138738 + Missense_Mutation SNP C C T TCGA-CH-5753-01A-11D-1576-08 TCGA-CH-5753-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05a8fbba-61ac-42a4-b375-87f3a671446b c1987c4d-84f8-4464-93ad-7e53fd4a6a11 g.chrX:151138738C>T ENST00000370325.1 - 2 246 c.193G>A c.(193-195)Gtt>Att p.V65I GABRE_ENST00000370328.3_Missense_Mutation_p.V65I|GABRE_ENST00000393914.3_5'UTR P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, epsilon 65 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 p.V65I(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) AGTTTGCCAACTCTGCTCCCA 0.532 10 220 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179498718 179498718 + Frame_Shift_Del DEL T T - TCGA-CH-5753-01A-11D-1576-08 TCGA-CH-5753-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05a8fbba-61ac-42a4-b375-87f3a671446b c1987c4d-84f8-4464-93ad-7e53fd4a6a11 g.chr2:179498718delT ENST00000589042.1 - 231 42732 c.42508delA c.(42508-42510)atgfs p.M14170fs TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.M5105fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.M11602fs|TTN_ENST00000342175.6_Frame_Shift_Del_p.M5297fs|TTN_ENST00000359218.5_Frame_Shift_Del_p.M5230fs|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.M12529fs|TTN-AS1_ENST00000590807.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12529 Fibronectin type-III 2. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACTACATGCATTTTTTCATGA 0.363 249 403 --- --- --- --- THAP9 79725 broad.mit.edu 37 4 83838140 83838141 + Frame_Shift_Ins INS - - T TCGA-CH-5753-01A-11D-1576-08 TCGA-CH-5753-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05a8fbba-61ac-42a4-b375-87f3a671446b c1987c4d-84f8-4464-93ad-7e53fd4a6a11 g.chr4:83838140_83838141insT ENST00000302236.5 + 5 826_827 c.775_776insT c.(775-777)attfs p.I259fs LIN54_ENST00000505905.1_Intron NM_024672.4 NP_078948.3 Q9H5L6 THAP9_HUMAN THAP domain containing 9 259 DNA binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3) 33 Hepatocellular(203;0.114) CAACAGCAACATTTTTTCTTTT 0.361 30 437 --- --- --- --- TLL1 7092 broad.mit.edu 37 4 166986834 166986834 + Splice_Site DEL G G - TCGA-CH-5753-01A-11D-1576-08 TCGA-CH-5753-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05a8fbba-61ac-42a4-b375-87f3a671446b c1987c4d-84f8-4464-93ad-7e53fd4a6a11 g.chr4:166986834delG ENST00000061240.2 + 16 2654 c.e16-1 TLL1_ENST00000507499.1_Splice_Site NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TTTTTTTCTAGGTTTGCAAAT 0.363 7 224 --- --- --- --- FBXO4 26272 broad.mit.edu 37 5 41927295 41927296 + Frame_Shift_Del DEL TT TT - TCGA-CH-5753-01A-11D-1576-08 TCGA-CH-5753-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05a8fbba-61ac-42a4-b375-87f3a671446b c1987c4d-84f8-4464-93ad-7e53fd4a6a11 g.chr5:41927295_41927296delTT ENST00000296812.2 + 2 426_427 c.370_371delTT c.(370-372)ttafs p.L124fs FBXO4_ENST00000281623.3_Frame_Shift_Del_p.L124fs|FBXO4_ENST00000509134.1_Frame_Shift_Del_p.L124fs NM_033484.2 NP_277019.1 Q9UKT5 FBX4_HUMAN F-box protein 4 124 positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex protein binding|protein homodimerization activity|ubiquitin-protein ligase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2) 27 Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604) TCTAGAAATCTTAAAAAAGCCT 0.351 18 360 --- --- --- --- SRFBP1 153443 broad.mit.edu 37 5 121356088 121356088 + Frame_Shift_Del DEL A A - TCGA-CH-5753-01A-11D-1576-08 TCGA-CH-5753-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05a8fbba-61ac-42a4-b375-87f3a671446b c1987c4d-84f8-4464-93ad-7e53fd4a6a11 g.chr5:121356088delA ENST00000339397.4 + 6 730 c.658delA c.(658-660)aagfs p.K220fs NM_152546.2 NP_689759.2 Q8NEF9 SRFB1_HUMAN serum response factor binding protein 1 220 regulation of transcription, DNA-dependent|transcription, DNA-dependent perinuclear region of cytoplasm central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1) 15 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517) TGAGTCCCAGAAGACACCTGC 0.403 58 96 --- --- --- --- IGF2BP1 10642 broad.mit.edu 37 17 47121400 47121400 + Frame_Shift_Del DEL G G - TCGA-CH-5753-01A-11D-1576-08 TCGA-CH-5753-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05a8fbba-61ac-42a4-b375-87f3a671446b c1987c4d-84f8-4464-93ad-7e53fd4a6a11 g.chr17:47121400delG ENST00000290341.3 + 11 1606 c.1272delG c.(1270-1272)aagfs p.K424fs IGF2BP1_ENST00000431824.2_Frame_Shift_Del_p.K285fs NM_006546.3 NP_006537.3 Q9NZI8 IF2B1_HUMAN insulin-like growth factor 2 mRNA binding protein 1 424 KH 3.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity). CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 TCGGCAAGAAGGGGCAGCACA 0.597 55 153 --- --- --- ---