Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut THEG 51298 broad.mit.edu 37 19 367082 367082 + Missense_Mutation SNP C C T TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr19:367082C>T ENST00000342640.4 - 7 938 c.896G>A c.(895-897)cGc>cAc p.R299H THEG_ENST00000346878.2_Missense_Mutation_p.R275H NM_016585.4 NP_057669.1 Q9P2T0 THEG_HUMAN theg spermatid protein 299 cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis nucleus protein binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1) 29 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTGAAGGAGGCGGTTATGGTC 0.572000 41 114 0 0 1 0 0 NPIPA5 100288332 broad.mit.edu 37 16 15457701 15457701 + Missense_Mutation SNP G G A TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr16:15457701G>A ENST00000360151.4 - 8 867 c.868C>T c.(868-870)Ctc>Ttc p.L290F NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 p.L290F(2) AGGGGAGTGAGCAGACACTCG 0.562000 4 109 0 0 1 0 0 CPNE9 151835 broad.mit.edu 37 3 9754444 9754444 + Silent SNP G G A TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr3:9754444G>A ENST00000383832.3 + 9 667 c.477G>A c.(475-477)ctG>ctA p.L159L CPNE9_ENST00000383831.3_Silent_p.L159L NM_153635.2 NP_705899.2 Q8IYJ1 CPNE9_HUMAN copine family member IX 159 C2 2. breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 16 Medulloblastoma(99;0.227) CAAACAAGCTGGACAAGAAGG 0.517000 43 98 0 0 1 0 0 PTEN 5728 broad.mit.edu 37 10 89717661 89717661 + Nonsense_Mutation SNP C C G TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr10:89717661C>G ENST00000371953.3 + 7 2043 c.686C>G c.(685-687)tCa>tGa p.S229* PTEN_ENST00000472832.1_3'UTR NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 229 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.S229*(6)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TCCTCCAATTCAGGACCCACA 0.423000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 12 96 0 0 1 0 0 AGAP10 728127 broad.mit.edu 37 10 47207813 47207813 + Splice_Site SNP T T C TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr10:47207813T>C ENST00000355232.3 - 5 3482 c.471_splice c.e5+1 p.H157_splice AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 p.H228R(20) endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1) 12 TTTACTTACATGGTTTGTACA 0.294000 3 13 0 0 1 0 0 TBC1D22B 55633 broad.mit.edu 37 6 37298922 37298922 + Missense_Mutation SNP G G A TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr6:37298922G>A ENST00000373491.3 + 13 1638 c.1492G>A c.(1492-1494)Gat>Aat p.D498N NM_017772.2 NP_060242.2 Q9NU19 TB22B_HUMAN TBC1 domain family, member 22B 498 intracellular Rab GTPase activator activity breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1) 15 OV - Ovarian serous cystadenocarcinoma(102;0.241) CATGTTTGCCGATGCCCCAAA 0.547000 4 114 0 0 1 0 0 AP000525.9 0 broad.mit.edu 37 22 16150968 16150968 + RNA SNP C C T rs138311033 by1000genomes TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr22:16150968C>T ENST00000447898.1 - 0 1146 CAAATTTGGACTCTTGACTCT 0.403000 3 17 0 0 1 0 0 PPL 5493 broad.mit.edu 37 16 4934534 4934534 + Silent SNP G G A TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr16:4934534G>A ENST00000345988.2 - 22 4211 c.4122C>T c.(4120-4122)agC>agT p.S1374S PPL_ENST00000590782.2_Silent_p.S1372S NM_002705.4 NP_002696.3 O60437 PEPL_HUMAN periplakin 1374 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 CCACATCGATGCTCTCGGCAA 0.677000 5 206 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628287 29628287 + Missense_Mutation SNP A A G TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr20:29628287A>G ENST00000278882.3 + 6 669 c.289A>G c.(289-291)Ata>Gta p.I97V FRG1B_ENST00000439954.2_Missense_Mutation_p.I102V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I97V endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AGCAGGGGACATAGAAGCAAA 0.373000 6 130 0 0 1 0 0 ASTN2 23245 broad.mit.edu 37 9 119249746 119249746 + Missense_Mutation SNP G G C TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr9:119249746G>C ENST00000313400.4 - 20 3489 c.3389C>G c.(3388-3390)tCt>tGt p.S1130C ASTN2_ENST00000361477.3_Missense_Mutation_p.S182C|ASTN2_ENST00000373996.3_Missense_Mutation_p.S1126C|ASTN2_ENST00000288520.5_Missense_Mutation_p.S231C|ASTN2_ENST00000361209.2_Missense_Mutation_p.S1079C|ASTN2_ENST00000341734.4_Missense_Mutation_p.S182C O75129 ASTN2_HUMAN astrotactin 2 1130 Fibronectin type-III. integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 GCCCAGGCCAGAGAGTAAGTC 0.512000 22 39 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 4 22 0 0 1 0 0 CD300LD 100131439 broad.mit.edu 37 17 72576247 72576247 + Missense_Mutation SNP G G A TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr17:72576247G>A ENST00000375352.1 - 4 559 c.479C>T c.(478-480)cCg>cTg p.P160L NM_001115152.1 NP_001108624.1 Q6UXZ3 CLM4_HUMAN CD300 molecule-like family member d 160 integral to membrane|plasma membrane receptor activity large_intestine(1)|lung(2)|prostate(1)|stomach(1) 5 GCTCTTGAGCGGGGACCTGTG 0.572000 3 13 0 0 1 0 0 ZNF175 7728 broad.mit.edu 37 19 52090031 52090031 + Missense_Mutation SNP G G T TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr19:52090031G>T ENST00000262259.2 + 5 805 c.447G>T c.(445-447)gaG>gaT p.E149D ZNF175_ENST00000436511.2_Intron NM_007147.2 NP_009078.1 Q9Y473 ZN175_HUMAN zinc finger protein 175 149 response to virus cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257) AGAAAGATGAGCAAAATCAAA 0.393000 3 37 0.115264 0.117665 1 1 0 CUBN 8029 broad.mit.edu 37 10 17142012 17142012 + Missense_Mutation SNP T T C TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr10:17142012T>C ENST00000377833.4 - 14 1822 c.1757A>G c.(1756-1758)cAg>cGg p.Q586R NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 586 CUB 1. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ACCTGGTTGCTGTGTTTCCCA 0.378000 44 130 0 0 1 0 0 UBP1 7342 broad.mit.edu 37 3 33450750 33450750 + Missense_Mutation SNP T T C TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr3:33450750T>C ENST00000283629.3 - 7 1326 c.797A>G c.(796-798)tAt>tGt p.Y266C UBP1_ENST00000283628.5_Missense_Mutation_p.Y266C|UBP1_ENST00000447368.2_Missense_Mutation_p.Y266C NM_001128161.1|NM_014517.4 NP_001121633.1|NP_055332.3 Q9NZI7 UBIP1_HUMAN upstream binding protein 1 (LBP-1a) 266 negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2) 23 TGTGGTATCATAGGACGGCTG 0.383000 44 127 0 0 1 0 0 ADCY4 196883 broad.mit.edu 37 14 24791834 24791834 + Missense_Mutation SNP C C T TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr14:24791834C>T ENST00000310677.4 - 20 2536 c.2423G>A c.(2422-2424)cGc>cAc p.R808H ADCY4_ENST00000418030.2_Missense_Mutation_p.R808H|ADCY4_ENST00000554068.2_Missense_Mutation_p.R808H NM_001198568.1|NM_001198592.1|NM_139247.3 NP_001185497.1|NP_001185521.1|NP_640340.2 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 808 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) ACTTACCTGGCGAGCCAGGAC 0.557000 14 21 0 0 1 0 0 CWF19L1 55280 broad.mit.edu 37 10 101996663 101996663 + Missense_Mutation SNP C C A TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr10:101996663C>A ENST00000354105.4 - 12 1404 c.1318G>T c.(1318-1320)Gca>Tca p.A440S CWF19L1_ENST00000478047.1_5'UTR|CWF19L1_ENST00000370379.1_Intron NM_018294.4 NP_060764.3 Q69YN2 C19L1_HUMAN CWF19-like 1, cell cycle control (S. pombe) 440 catalytic activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2) 17 Colorectal(252;0.117) Epithelial(162;3.78e-10)|all cancers(201;3.1e-08) TGCTCCTGTGCCTGGGTAATG 0.483000 4 172 0.150653 0.150653 1 1 0 GUCY2C 2984 broad.mit.edu 37 12 14804947 14804947 + Silent SNP A A G TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr12:14804947A>G ENST00000261170.3 - 14 1687 c.1551T>C c.(1549-1551)gaT>gaC p.D517D NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 517 Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 TGTGCTTGAGATCTTTGAGAA 0.348000 19 55 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 19 32 0 0 1 0 0 KRTAP4-8 728224 broad.mit.edu 37 17 39254054 39254054 + Missense_Mutation SNP A A T rs76270529 by1000genomes TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr17:39254054A>T ENST00000333822.4 - 1 339 c.283T>A c.(283-285)Tgc>Agc p.C95S NM_031960.2 NP_114166.1 Q9BYQ9 KRA48_HUMAN keratin associated protein 4-8 95 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR]. keratin filament p.C95S(4) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 ctggagatgcagcagcTAGGG 0.677000 6 40 0 0 1 0 0 CNOT4 4850 broad.mit.edu 37 7 135078909 135078909 + Missense_Mutation SNP T T C TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr7:135078909T>C ENST00000428680.2 - 10 1658 c.1379A>G c.(1378-1380)aAt>aGt p.N460S CNOT4_ENST00000361528.4_Missense_Mutation_p.N460S|CNOT4_ENST00000423368.2_Missense_Mutation_p.N463S|CNOT4_ENST00000451834.1_Missense_Mutation_p.N460S|CNOT4_ENST00000315544.5_Missense_Mutation_p.N463S|CNOT4_ENST00000356162.4_Intron|CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000541284.1_Missense_Mutation_p.N463S NM_001008225.2 NP_001008226.1 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 463 nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 22 ATTGAGAGAATTGGCATTTGT 0.502000 28 70 0 0 1 0 0 SLC35F1 222553 broad.mit.edu 37 6 118606389 118606389 + Missense_Mutation SNP A A G TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr6:118606389A>G ENST00000360388.4 + 7 1091 c.890A>G c.(889-891)tAc>tGc p.Y297C NM_001029858.3 NP_001025029.2 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 297 transport integral to membrane breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(226;0.217) TTTGGTCTCTACAGCTTTATG 0.507000 OREG0017635 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 75 176 0 0 1 0 0 JARID2 3720 broad.mit.edu 37 6 15374364 15374364 + Missense_Mutation SNP T T G TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr6:15374364T>G ENST00000341776.2 + 2 306 c.62T>G c.(61-63)aTt>aGt p.I21S JARID2_ENST00000397311.3_De_novo_Start_InFrame NM_004973.3 NP_004964.2 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 21 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 59 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) AGTGATGGGATTCCGTGGTCA 0.413000 78 168 0 0 1 0 0 GSN 2934 broad.mit.edu 37 9 124080948 124080948 + Silent SNP G G A rs145170518 TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr9:124080948G>A ENST00000373823.3 + 17 1886 c.981G>A c.(979-981)tcG>tcA p.S327S GSN_ENST00000341272.2_Silent_p.S327S|GSN_ENST00000394353.2_Silent_p.S338S|GSN_ENST00000412819.1_Silent_p.S327S|GSN_ENST00000545652.1_Silent_p.S335S|GSN_ENST00000436847.1_Silent_p.S338S|GSN_ENST00000373807.1_Silent_p.S109S|GSN_ENST00000373818.4_Silent_p.S378S|GSN_ENST00000373808.2_Silent_p.S327S|GSN_ENST00000449733.1_Silent_p.S327S P06396 GELS_HUMAN gelsolin 378 actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis actin cytoskeleton|cytosol actin binding|calcium ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1) 21 CCCAGGTCTCGGTCCTTCCTG 0.632000 7 33 0 0 1 0 0 HHAT 55733 broad.mit.edu 37 1 210796935 210796935 + Silent SNP G G A TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr1:210796935G>A ENST00000367010.1 + 11 1538 c.1311G>A c.(1309-1311)tcG>tcA p.S437S HHAT_ENST00000261458.3_Silent_p.S437S|HHAT_ENST00000367009.1_Silent_p.S127S|HHAT_ENST00000308852.6_Silent_p.S392S|HHAT_ENST00000545781.1_Silent_p.S374S|HHAT_ENST00000541565.1_Silent_p.S300S|HHAT_ENST00000545154.1_Silent_p.S438S|HHAT_ENST00000537898.1_Silent_p.S372S|HHAT_ENST00000413764.2_Silent_p.S437S|HHAT_ENST00000391905.3_Silent_p.S437S NM_001170580.1 NP_001164051.1 Q5VTY9 HHAT_HUMAN hedgehog acyltransferase 437 multicellular organismal development endoplasmic reticulum membrane|integral to membrane GTP binding breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215) GTTCCACCTCGATGCTGATCC 0.502000 108 231 0 0 1 0 0 SIGLEC12 89858 broad.mit.edu 37 19 51995064 51995064 + Missense_Mutation SNP G G A TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr19:51995064G>A ENST00000291707.3 - 8 1674 c.1619C>T c.(1618-1620)cCg>cTg p.P540L SIGLEC12_ENST00000598614.1_Missense_Mutation_p.P422L NM_053003.2 NP_443729.1 Q96PQ1 SIG12_HUMAN sialic acid binding Ig-like lectin 12 (gene/pseudogene) 540 cell adhesion integral to membrane sugar binding NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) GTCATCTGCCGGGGATTCAAT 0.622000 11 11 0 0 1 0 0 FERMT3 83706 broad.mit.edu 37 11 63988554 63988554 + Missense_Mutation SNP C C T TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr11:63988554C>T ENST00000279227.5 + 13 1719 c.1624C>T c.(1624-1626)Cgc>Tgc p.R542C FERMT3_ENST00000345728.5_Missense_Mutation_p.R538C NM_178443.2 NP_848537.1 Q86UX7 URP2_HUMAN fermitin family member 3 542 FERM. integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin cell junction|cell projection|podosome integrin binding p.R538C(1)|p.R542C(1) breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 18 GGCCCAGCTGCGCTTCATCCA 0.662000 42 65 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178921551 178921551 + Missense_Mutation SNP A A T TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr3:178921551A>T ENST00000263967.3 + 5 1190 c.1033A>T c.(1033-1035)Aat>Tat p.N345Y NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 345 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AACCTACGTGAATGTAAATAT 0.303000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 24 59 0 0 1 0 0 PPM1H 57460 broad.mit.edu 37 12 63195840 63195840 + Missense_Mutation SNP G G A TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr12:63195840G>A ENST00000228705.6 - 3 812 c.512C>T c.(511-513)aCg>aTg p.T171M NM_020700.1 NP_065751.1 Q9ULR3 PPM1H_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1H 171 PP2C-like. phosphoprotein phosphatase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1) 18 GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209) GBM - Glioblastoma multiforme(28;0.0126) CAGCTGCTCCGTGATGTGGTG 0.667000 16 42 0 0 1 0 0 MAD1L1 8379 broad.mit.edu 37 7 2255588 2255588 + Silent SNP G G A TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr7:2255588G>A ENST00000406869.1 - 9 1413 c.856C>T c.(856-858)Ctg>Ttg p.L286L MAD1L1_ENST00000402746.1_Silent_p.L194L|MAD1L1_ENST00000399654.2_Silent_p.L286L|MAD1L1_ENST00000265854.7_Silent_p.L286L Q9Y6D9 MD1L1_HUMAN MAD1 mitotic arrest deficient-like 1 (yeast) 286 cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle protein binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5) 36 Ovarian(82;0.0272) UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14) TTCCTCTGCAGCCCTTCCAGC 0.607000 51 101 0 0 1 0 0 OR51B5 282763 broad.mit.edu 37 11 5364396 5364396 + Missense_Mutation SNP C C T TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr11:5364396C>T ENST00000300773.2 - 1 413 c.359G>A c.(358-360)cGt>cAt p.R120H HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron NM_001005567.2 NP_001005567.2 Q9H339 O51B5_HUMAN olfactory receptor, family 51, subfamily B, member 5 120 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 28 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGCAATAAAACGGTCATAGGC 0.473000 35 39 0 0 1 0 0 MAP3K13 9175 broad.mit.edu 37 3 185190929 185190929 + Missense_Mutation SNP G G A TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr3:185190929G>A ENST00000265026.3 + 11 2144 c.1810G>A c.(1810-1812)Gca>Aca p.A604T MAP3K13_ENST00000446828.1_Missense_Mutation_p.A397T|MAP3K13_ENST00000443863.1_Missense_Mutation_p.A460T|MAP3K13_ENST00000424227.1_Missense_Mutation_p.A604T|MAP3K13_ENST00000535426.1_Missense_Mutation_p.A460T NM_004721.4 NP_004712.1 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 13 604 activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) TGACTTTGCCGCAATCTTGAA 0.507000 5 392 0 0 1 0 0 THSD4 79875 broad.mit.edu 37 15 72020942 72020942 + Missense_Mutation SNP G G T TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr15:72020942G>T ENST00000355327.3 + 9 1546 c.1412G>T c.(1411-1413)cGa>cTa p.R471L THSD4_ENST00000357769.4_Missense_Mutation_p.R111L|THSD4_ENST00000261862.6_Missense_Mutation_p.R471L|THSD4_ENST00000567838.1_3'UTR Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 471 proteinaceous extracellular matrix metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 GCAATTGATCGACCAGGAAAA 0.527000 14 118 4.93089e-13 5.25247e-13 1 1 0 AHI1 54806 broad.mit.edu 37 6 135754276 135754276 + Missense_Mutation SNP C C T TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr6:135754276C>T ENST00000367800.4 - 14 2371 c.2155G>A c.(2155-2157)Gat>Aat p.D719N AHI1_ENST00000417892.2_Missense_Mutation_p.D73N|AHI1_ENST00000457866.2_Missense_Mutation_p.D719N|AHI1_ENST00000327035.6_Missense_Mutation_p.D719N NM_001134830.1 NP_001128302.1 Q8N157 AHI1_HUMAN Abelson helper integration site 1 719 adherens junction|cilium|microtubule basal body NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1) 37 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) ATCATGGAATCATAGCATCCT 0.363000 25 67 0 0 1 0 0 PCDHGA6 0 broad.mit.edu 37 5 140754997 140754997 + Silent SNP G G A TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr5:140754997G>A ENST00000517434.1 + 1 1347 c.1347G>A c.(1345-1347)ccG>ccA p.P449P PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGACAACCCGCCCACCTTCC 0.512000 6 179 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 5 74 0 0 1 0 0 RASSF1 11186 broad.mit.edu 37 3 50368774 50368774 + Silent SNP C C T TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr3:50368774C>T ENST00000359365.4 - 5 973 c.867G>A c.(865-867)ggG>ggA p.G289G RASSF1_ENST00000395126.3_Silent_p.G138G|RASSF1_ENST00000357043.2_Silent_p.G293G|RASSF1_ENST00000327761.3_Silent_p.G219G NM_001206957.1|NM_007182.4|NM_170714.1 NP_001193886.1|NP_009113.3|NP_733832.1 Q9NS23 RASF1_HUMAN Ras association (RalGDS/AF-6) domain family member 1 293 Ras-associating. cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole identical protein binding|protein binding|protein N-terminus binding|zinc ion binding lung(2)|ovary(1)|skin(1)|urinary_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) CGTTCACCTCCCCAGAGTCAT 0.542000 13 29 0 0 1 0 0 BCORL1 63035 broad.mit.edu 37 X 129149824 129149824 + Missense_Mutation SNP G G T TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chrX:129149824G>T ENST00000540052.1 + 3 3120 c.3076G>T c.(3076-3078)Gtt>Ttt p.V1026F BCORL1_ENST00000303743.5_Missense_Mutation_p.V1026F|BCORL1_ENST00000359304.2_Missense_Mutation_p.V1026F|BCORL1_ENST00000218147.7_Missense_Mutation_p.V1026F NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 1026 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 ATTGGACGTGGTTCCGAGCAG 0.592000 27 22 2.79863e-10 2.91772e-10 1 1 0 C9orf69 90120 broad.mit.edu 37 9 139008643 139008643 + Missense_Mutation SNP C C T TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr9:139008643C>T ENST00000561457.1 - 2 628 c.178G>A c.(178-180)Gca>Aca p.A60T C9orf69_ENST00000418388.1_Missense_Mutation_p.R35H NM_152833.2 NP_690046.3 chromosome 9 open reading frame 69 endometrium(1) 1 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06) GTACTTGGTGCGGGCCAGGTG 0.657000 3 46 0 0 1 0 0 MIR940 0 broad.mit.edu 37 16 2321813 2321813 + RNA SNP G G A TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr16:2321813G>A ENST00000401276.1 + 0 66 NR_030636.1 AAGGAAGGCAGGGCCCCCGCT 0.701000 9 13 0 0 1 0 0 RP11-69E11.4 0 broad.mit.edu 37 1 40011509 40011509 + RNA DEL T T - TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr1:40011509delT ENST00000440190.1 - 0 350 TGACTAGGCCTTTTTTAGCAG 0.537 2 4 --- --- --- --- SGIP1 84251 broad.mit.edu 37 1 67109265 67109267 + In_Frame_Del DEL GAA GAA - TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr1:67109265_67109267delGAA ENST00000371037.4 + 7 399_401 c.322_324delGAA c.(322-324)del p.E112del SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000371035.3_In_Frame_Del_p.E69del|SGIP1_ENST00000371036.3_In_Frame_Del_p.E87del|SGIP1_ENST00000237247.6_In_Frame_Del_p.E116del|SGIP1_ENST00000371039.1_In_Frame_Del_p.E88del NM_032291.2 NP_115667.2 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 112 Poly-Glu. E -> Q (in dbSNP:rs17490057). positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 AAGTGAATCGGAAGAAGAAGAAG 0.345 17 33 --- --- --- --- DCTN1 1639 broad.mit.edu 37 2 74598294 74598296 + In_Frame_Del DEL CCT CCT - TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr2:74598294_74598296delCCT ENST00000361874.3 - 9 970_972 c.653_655delAGG c.(652-657)gga>g p.EG218del DCTN1_ENST00000409240.1_In_Frame_Del_p.EG181del|DCTN1_ENST00000409868.1_In_Frame_Del_p.EG201del|DCTN1_ENST00000409567.3_In_Frame_Del_p.EG198del|DCTN1_ENST00000409438.1_In_Frame_Del_p.EG84del|DCTN1_ENST00000407639.2_In_Frame_Del_p.EG84del|DCTN1_ENST00000394003.3_In_Frame_Del_p.EG211del NM_004082.4 NP_004073.2 Q14203 DCTN1_HUMAN dynactin 1 218 cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3) 45 GCCCTTAGTCCCTCCTCCTCCTG 0.542 11 347 --- --- --- --- PIK3CA 5290 broad.mit.edu 37 3 178916938 178916940 + In_Frame_Del DEL GAA GAA - TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr3:178916938_178916940delGAA ENST00000263967.3 + 2 482_484 c.325_327delGAA c.(325-327)del p.E110del NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 110 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E109del(3)|p.G106_R108del(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AGGCAACCGTGAAGAAAAGATCC 0.340 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 41 80 --- --- --- --- TPD52 7163 broad.mit.edu 37 8 80976789 80976791 + In_Frame_Del DEL TCT TCT - TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr8:80976789_80976791delTCT ENST00000379096.5 - 2 171_173 c.57_59delAGA c.(55-60)gat>ga p.ED19del TPD52_ENST00000518937.1_In_Frame_Del_p.ED19del|TPD52_ENST00000448733.2_In_Frame_Del_p.ED59del|TPD52_ENST00000517427.1_In_Frame_Del_p.ED59del|TPD52_ENST00000520527.1_In_Frame_Del_p.ED59del|TPD52_ENST00000537855.1_In_Frame_Del_p.ED59del|TPD52_ENST00000519303.2_5'UTR|TPD52_ENST00000379097.3_In_Frame_Del_p.ED59del NM_005079.2 NP_005070.1 P55327 TPD52_HUMAN tumor protein D52 59 anatomical structure morphogenesis|B cell differentiation|secretion endoplasmic reticulum|perinuclear region of cytoplasm calcium ion binding|protein heterodimerization activity|protein homodimerization activity endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 8 all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06) Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158) BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612) GGCAGCAACATCTTCTCCTTCCT 0.448 39 93 --- --- --- --- ABHD17B 51104 broad.mit.edu 37 9 74489817 74489819 + In_Frame_Del DEL AGA AGA - TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr9:74489817_74489819delAGA ENST00000333421.6 - 2 289_291 c.178_180delTCT c.(178-180)del p.S60del ABHD17B_ENST00000377041.2_In_Frame_Del_p.S60del NM_001025780.1 NP_001020951.1 abhydrolase domain containing 17B CTTTTTCTCTAGAAGAATACTGC 0.419 18 145 --- --- --- --- PRDM12 59335 broad.mit.edu 37 9 133543701 133543702 + Splice_Site DEL GT GT - TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr9:133543701_133543702delGT ENST00000253008.2 + 3 630 c.e3+1 NM_021619.2 NP_067632.2 Q9H4Q4 PRD12_HUMAN PR domain containing 12 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534) OV - Ovarian serous cystadenocarcinoma(145;0.000344) GGCCATTGAGGTGTGTGTGTGT 0.594 9 88 --- --- --- --- SURF4 6836 broad.mit.edu 37 9 136230378 136230380 + In_Frame_Del DEL CTT CTT - TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr9:136230378_136230380delCTT ENST00000371989.3 - 6 928_930 c.799_801delAAG c.(799-801)del p.K267del SURF4_ENST00000485435.2_Intron|SURF4_ENST00000545297.1_3'UTR NM_033161.2 NP_149351.1 O15260 SURF4_HUMAN surfeit 4 267 endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane protein binding kidney(1)|large_intestine(2)|lung(5) 8 OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05) GTTACCACTCCTTCTTCTTCTCA 0.547 8 50 --- --- --- --- KRT1 3848 broad.mit.edu 37 12 53069236 53069256 + In_Frame_Del DEL TAGCTGCTACCTCCGGAGCCA TAGCTGCTACCTCCGGAGCCA - rs66529359 by1000genomes TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA ENST00000252244.3 - 9 1714_1734 c.1656_1676delTGGCTCCGGAGGTAGCAGCTA c.(1654-1677)tac>ta p.YGSGGSSY552del NM_006121.3 NP_006112.3 P04264 K2C1_HUMAN keratin 1 552 Gly/Ser-rich.|Tail. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding p.S557_G563delSSYGSGG(3) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3) 39 tccggagccgtagctgctacctccggagccatagctgccac 0.688 4 3 --- --- --- --- HECTD4 283450 broad.mit.edu 37 12 112605213 112605215 + In_Frame_Del DEL AGA AGA - TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr12:112605213_112605215delAGA ENST00000550722.1 - 72 12397_12399 c.12002_12004delTCT c.(12001-12006)tgg>t p.FW4001del HECTD4_ENST00000430131.2_In_Frame_Del_p.FW3725del|HECTD4_ENST00000377560.5_In_Frame_Del_p.FW3975del NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 AGCGTCTTCCAGAAGGAGGGCAG 0.606 10 64 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102299886 102299887 + RNA INS - - G TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr15:102299886_102299887insG ENST00000561463.1 + 0 7932_7933 AACCTGTACTCGCGTCGGAACC 0.589 4 9 --- --- --- --- MYH10 4628 broad.mit.edu 37 17 8526520 8526521 + Frame_Shift_Del DEL AA AA - TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr17:8526520_8526521delAA ENST00000360416.3 - 2 182_183 c.44_45delTT c.(43-45)tfs p.F15fs MYH10_ENST00000379980.4_Frame_Shift_Del_p.F15fs|MYH10_ENST00000396239.1_Frame_Shift_Del_p.F15fs|MYH10_ENST00000269243.4_Frame_Shift_Del_p.F15fs NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 15 Myosin head-like. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 CCCTGTCCACAAAGAGATACCT 0.480 25 92 --- --- --- --- HAUS8 93323 broad.mit.edu 37 19 17160706 17160707 + Frame_Shift_Del DEL GA GA - TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr19:17160706_17160707delGA ENST00000593360.1 - 10 3044_3045 c.1026_1027delTC c.(1024-1029)tcgtfs p.SR342fs HAUS8_ENST00000253669.5_Frame_Shift_Del_p.SR403fs|HAUS8_ENST00000448593.2_Frame_Shift_Del_p.SR402fs Q9BT25 HAUS8_HUMAN HAUS augmin-like complex, subunit 8 403 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1) 12 CTCCCTGAACGAGAGAGAGAGG 0.495 7 300 --- --- --- --- CIC 23152 broad.mit.edu 37 19 42791390 42791391 + Frame_Shift_Ins INS - - G TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr19:42791390_42791391insG ENST00000572681.2 + 4 3245_3246 c.3177_3178insG c.(3175-3180)gaccttfs p.DL1059fs CIC_ENST00000160740.3_Frame_Shift_Ins_p.DL150fs|CIC_ENST00000575354.2_Frame_Shift_Ins_p.DL150fs Q96RK0 CIC_HUMAN capicua transcriptional repressor 150 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) ACCATGATGATGCGTGAGTTCC 0.649 """Mis, F, S""" oligodendroglioma 13 7 --- --- --- --- PIGU 128869 broad.mit.edu 37 20 33225719 33225719 + Frame_Shift_Del DEL G G - rs142228998 TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17f602fa-959f-4650-bcde-43821303d338 2ec5ceb4-e857-43a2-b7be-0e7a97a37804 g.chr20:33225719delG ENST00000374820.2 - 4 349 c.329delC c.(328-330)ctfs p.P110fs PIGU_ENST00000452740.2_Frame_Shift_Del_p.P130fs Q9H490 PIGU_HUMAN phosphatidylinositol glycan anchor biosynthesis, class U 130 attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade GPI-anchor transamidase complex|plasma membrane NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 9 CATTTCCATAGGGGTCCGGAT 0.423 37 71 --- --- --- ---