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 ZNF157 7712 broad.mit.edu 37 X 47272239 47272239 + Missense_Mutation SNP C C G TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chrX:47272239C>G ENST00000377073.3 + 4 853 c.767C>G c.(766-768)tCt>tGt p.S256C NM_003446.3 NP_003437.2 P51786 ZN157_HUMAN zinc finger protein 157 256 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 11 AAAACCTTTTCTGAGAAGGCA 0.428000 8 25 0 0 1 0 0 ZNF83 55769 broad.mit.edu 37 19 53116804 53116804 + Silent SNP G G A TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr19:53116804G>A ENST00000597597.1 - 2 3267 c.1014C>T c.(1012-1014)atC>atT p.I338I ZNF83_ENST00000301096.3_Silent_p.I338I|ZNF83_ENST00000541777.2_Silent_p.I338I|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000536937.1_Silent_p.I338I|ZNF83_ENST00000545872.1_Silent_p.I338I|ZNF83_ENST00000544146.1_Silent_p.I338I|ZNF83_ENST00000391789.4_Silent_p.I310I|ZNF83_ENST00000600714.1_Intron P51522 ZNF83_HUMAN zinc finger protein 83 338 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.I338I(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) CTCCAGTGTGGATTCTCCAGT 0.413000 5 167 0 0 1 0 0 ZNF157 7712 broad.mit.edu 37 X 47271771 47271771 + Missense_Mutation SNP C C T TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chrX:47271771C>T ENST00000377073.3 + 4 385 c.299C>T c.(298-300)tCt>tTt p.S100F NM_003446.3 NP_003437.2 P51786 ZN157_HUMAN zinc finger protein 157 100 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 11 tttaaaggatctctctcactg 0.373000 11 21 0 0 1 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54912463 54912463 + Missense_Mutation SNP C C T TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr12:54912463C>T ENST00000293373.6 + 14 1446 c.1367C>T c.(1366-1368)tCc>tTc p.S456F NCKAP1L_ENST00000545638.2_Missense_Mutation_p.S406F NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 456 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 GAGGAGGAGTCCATCATCATG 0.498000 17 81 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 30936514 30936514 + Missense_Mutation SNP C C T TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr19:30936514C>T ENST00000355537.3 + 2 2192 c.2045C>T c.(2044-2046)tCg>tTg p.S682L NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 682 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) GAGTCCCAGTCGGTGAGCCGC 0.711000 4 24 0 0 1 0 0 RAET1K 0 broad.mit.edu 37 6 150322175 150322175 + RNA SNP T T C TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr6:150322175T>C ENST00000533735.1 - 0 701 NR_024045.1 AGGAGGAAAGTCTGTCCATTG 0.512000 5 34 0 0 1 0 0 GPR128 84873 broad.mit.edu 37 3 100362211 100362211 + Missense_Mutation SNP C C T TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr3:100362211C>T ENST00000273352.3 + 7 1068 c.800C>T c.(799-801)gCg>gTg p.A267V GPR128_ENST00000475887.1_Intron NM_032787.2 NP_116176.2 Q96K78 GP128_HUMAN G protein-coupled receptor 128 267 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 56 TCAGAAAATGCGGTGGGGCCT 0.403000 4 137 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 114449051 114449051 + Silent SNP T T A TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr8:114449051T>A ENST00000297405.5 - 1 277 c.33A>T c.(31-33)gcA>gcT p.A11A CSMD3_ENST00000352409.3_Silent_p.A11A|CSMD3_ENST00000455883.2_Silent_p.A11A NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 11 integral to membrane|plasma membrane 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 TGGATTCCTTTGCTCGGCTTT 0.512000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) OREG0018933 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 98 0 0 1 0 0 RAPGEF4 11069 broad.mit.edu 37 2 173891986 173891986 + Splice_Site SNP C C G TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr2:173891986C>G ENST00000264111.6 + 25 2741 c.2555_splice c.e25+1 p.H852_splice RAPGEF4_ENST00000540783.1_Splice_Site_p.H700_splice|RAPGEF4_ENST00000397087.3_Splice_Site_p.H709_splice|RAPGEF4_ENST00000539331.1_Splice_Site_p.H700_splice|RAPGEF4_ENST00000409036.1_Splice_Site_p.H853_splice|RAPGEF4_ENST00000397081.3_Splice_Site_p.H853_splice|RAPGEF4_ENST00000535187.1_Splice_Site_p.H633_splice|RAPGEF4_ENST00000538974.1_Splice_Site_p.H682_splice Q8WZA2 RPGF4_HUMAN Rap guanine nucleotide exchange factor (GEF) 4 853 Ras-GEF. blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex|membrane fraction|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 OV - Ovarian serous cystadenocarcinoma(117;0.194) GATAGCAGCCCAGTAAGTATA 0.338000 10 45 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145325997 145325997 + Silent SNP A A G TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr1:145325997A>G ENST00000342960.5 + 30 3905 c.3870A>G c.(3868-3870)caA>caG p.Q1290Q NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 1290 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AAGTCTTGCAAGACTCACTGG 0.468000 4 85 0 0 1 0 0 EFEMP1 2202 broad.mit.edu 37 2 56104957 56104957 + Silent SNP G G A rs139930646 TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr2:56104957G>A ENST00000394555.2 - 6 1119 c.684C>T c.(682-684)tgC>tgT p.C228C EFEMP1_ENST00000424836.2_Intron|EFEMP1_ENST00000355426.3_Silent_p.C228C|EFEMP1_ENST00000394554.1_Silent_p.C228C NM_001039348.2|NM_001039349.2 NP_001034437.1|NP_001034438.1 Q12805 FBLN3_HUMAN EGF containing fibulin-like extracellular matrix protein 1 228 EGF-like 3; calcium-binding (Potential). negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception extracellular space|proteinaceous extracellular matrix calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) GTGTATTCACGCATCTTTGGT 0.423000 23 92 0 0 1 0 0 ZNF157 7712 broad.mit.edu 37 X 47272505 47272505 + Missense_Mutation SNP C C G TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chrX:47272505C>G ENST00000377073.3 + 4 1119 c.1033C>G c.(1033-1035)Ctc>Gtc p.L345V NM_003446.3 NP_003437.2 P51786 ZN157_HUMAN zinc finger protein 157 345 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 11 GAAGATGACTCTCAATAATCA 0.423000 7 25 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32052789 32052789 + Missense_Mutation SNP C C T TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr5:32052789C>T ENST00000438447.1 + 9 2126 c.1738C>T c.(1738-1740)Cgg>Tgg p.R580W PDZD2_ENST00000282493.3_Missense_Mutation_p.R580W O15018 PDZD2_HUMAN PDZ domain containing 2 580 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GAGGCTCATTCGGCCATCCGT 0.483000 4 127 0 0 1 0 0 ITGAL 0 broad.mit.edu 37 16 30518157 30518157 + Missense_Mutation SNP C C T TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr16:30518157C>T ENST00000356798.6 + 21 2668 c.2488C>T c.(2488-2490)Cgc>Tgc p.R830C ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Missense_Mutation_p.R746C NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 830 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) ACTCTCCTTCCGCAAGGTGGA 0.607000 26 98 0 0 1 0 0 ZNF157 7712 broad.mit.edu 37 X 47271775 47271775 + Silent SNP C C G TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chrX:47271775C>G ENST00000377073.3 + 4 389 c.303C>G c.(301-303)ctC>ctG p.L101L NM_003446.3 NP_003437.2 P51786 ZN157_HUMAN zinc finger protein 157 101 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 11 aaggatctctctcactgctgt 0.378000 11 22 0 0 1 0 0 HMG20B 10362 broad.mit.edu 37 19 3573797 3573797 + Splice_Site SNP A A T TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr19:3573797A>T ENST00000333651.6 + 3 221 c.147_splice c.e3+1 p.E49_splice HMG20B_ENST00000585741.1_3'UTR NM_006339.2 NP_006330.2 Q9P0W2 HM20B_HUMAN high mobility group 20B 49 blood coagulation|cell cycle|chromatin modification chromosome|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity cervix(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18) CACGAGGAGGAGGTGAGAGTC 0.711000 6 24 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79322279 79322279 + Silent SNP T T C TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr9:79322279T>C ENST00000428286.1 - 8 5034 c.3834A>G c.(3832-3834)ttA>ttG p.L1278L PRUNE2_ENST00000376718.3_Silent_p.L1637L Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 1637 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CAGGACTGGATAAAGAGGAAA 0.368000 3 45 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61511439 61511439 + Missense_Mutation SNP G G A TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr20:61511439G>A ENST00000266070.4 - 16 6194 c.5869C>T c.(5869-5871)Cca>Tca p.P1957S DIDO1_ENST00000395343.1_Missense_Mutation_p.P1957S NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1957 Pro-rich. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) CTGGGACCTGGCATAAAGTTA 0.587000 4 184 0 0 1 0 0 PRPF4B 8899 broad.mit.edu 37 6 4032911 4032911 + Missense_Mutation SNP C C G TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr6:4032911C>G ENST00000337659.6 + 2 1260 c.1160C>G c.(1159-1161)tCt>tGt p.S387C PRPF4B_ENST00000538861.1_Missense_Mutation_p.S373C NM_003913.4 NP_003904.3 Q13523 PRP4B_HUMAN pre-mRNA processing factor 4B 387 Arg/Lys-rich (basic). catalytic step 2 spliceosome ATP binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 22 Ovarian(93;0.0925) all_hematologic(90;0.0895) CGGACACTGTCTCCTGGGAGA 0.448000 8 64 0 0 1 0 0 CD79A 0 broad.mit.edu 37 19 42383245 42383245 + Missense_Mutation SNP G G T TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr19:42383245G>T ENST00000221972.3 + 2 450 c.265G>T c.(265-267)Ggt>Tgt p.G89C CD79A_ENST00000444740.2_Splice_Site_p.E89_splice NM_001783.3|NM_021601.3 NP_001774.1|NP_067612.1 P11912 CD79A_HUMAN CD79a molecule, immunoglobulin-associated alpha 89 Ig-like C2-type. B cell differentiation|B cell proliferation|B cell receptor signaling pathway B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body transmembrane receptor activity large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 11 GGACCCCAATGGTACGCTGAT 0.602000 """O, S""" DLBCL 7 53 2.0095e-06 2.14808e-06 1 1 0 COL5A1 1289 broad.mit.edu 37 9 137593107 137593107 + Silent SNP C C T TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr9:137593107C>T ENST00000371817.3 + 4 996 c.582C>T c.(580-582)agC>agT p.S194S COL5A1_ENST00000464187.1_3'UTR NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 194 Laminin G-like.|TSP N-terminal. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) TCGACCGCAGCGACCACCCCA 0.522000 7 27 0 0 1 0 0 CDC25B 994 broad.mit.edu 37 20 3782946 3782946 + Missense_Mutation SNP T T A TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr20:3782946T>A ENST00000245960.5 + 11 1814 c.1117T>A c.(1117-1119)Tca>Aca p.S373T CDC25B_ENST00000344256.6_Missense_Mutation_p.S309T|CDC25B_ENST00000439880.2_Missense_Mutation_p.S359T|CDC25B_ENST00000340833.4_Missense_Mutation_p.S332T|CDC25B_ENST00000379598.5_Missense_Mutation_p.S282T|CDC25B_ENST00000467519.1_3'UTR NM_004358.3|NM_021872.2|NM_021873.2 NP_004349.1|NP_068658.1|NP_068659.1 P30305 MPIP2_HUMAN cell division cycle 25B 373 cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation cytosol|microtubule organizing center|nucleoplasm protein binding|protein tyrosine phosphatase activity NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1) 18 CGTCCTCCGCTCAAAATCACT 0.587000 20 76 0 0 1 0 0 GBF1 8729 broad.mit.edu 37 10 104140416 104140416 + Nonsense_Mutation SNP G G T TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr10:104140416G>T ENST00000369983.3 + 38 5403 c.5143G>T c.(5143-5145)Gaa>Taa p.E1715* NM_001199378.1|NM_001199379.1|NM_004193.2 NP_001186307.1|NP_001186308.1|NP_004184.1 Q92538 GBF1_HUMAN golgi brefeldin A resistant guanine nucleotide exchange factor 1 1715 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) CCTACGAGATGAACTCTTCAA 0.567000 37 223 5.71845e-15 6.44625e-15 1 1 0 YKT6 10652 broad.mit.edu 37 7 44250637 44250637 + Missense_Mutation SNP T T A TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr7:44250637T>A ENST00000223369.2 + 6 562 c.475T>A c.(475-477)Tct>Act p.S159T YKT6_ENST00000447123.1_3'UTR|YKT6_ENST00000496112.1_Intron NM_006555.3 NP_006546.1 O15498 YKT6_HUMAN YKT6 v-SNARE homolog (S. cerevisiae) 159 v-SNARE coiled-coil homology. ER to Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi|vesicle docking involved in exocytosis|vesicle targeting cytoplasmic vesicle membrane|cytosol|endoplasmic reticulum|endosome|Golgi membrane|integral to plasma membrane|mitochondrion|SNARE complex protein-cysteine S-palmitoleyltransferase activity|SNAP receptor activity breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 7 CACCATGGAGTCTCTGTTAGA 0.478000 10 49 0 0 1 0 0 OAS3 4940 broad.mit.edu 37 12 113376377 113376377 + Silent SNP C C T TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr12:113376377C>T ENST00000228928.7 + 1 221 c.42C>T c.(40-42)ttC>ttT p.F14F OAS3_ENST00000546638.1_3'UTR|OAS3_ENST00000548514.1_Silent_p.F14F|RP1-71H24.1_ENST00000552784.1_RNA|OAS3_ENST00000551007.1_Silent_p.F14F NM_006187.2 NP_006178.2 Q9Y6K5 OAS3_HUMAN 2'-5'-oligoadenylate synthetase 3, 100kDa 14 OAS domain 1. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|nucleotidyltransferase activity|RNA binding breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2) 27 TGGACAGGTTCGTGGCCAGAA 0.726000 4 20 0 0 1 0 0 KIAA1211 57482 broad.mit.edu 37 4 57182747 57182747 + Nonsense_Mutation SNP C C T TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr4:57182747C>T ENST00000504228.1 + 6 3184 c.3079C>T c.(3079-3081)Cag>Tag p.Q1027* KIAA1211_ENST00000541073.1_Nonsense_Mutation_p.Q1020*|KIAA1211_ENST00000264229.6_Nonsense_Mutation_p.Q1027* Q6ZU35 K1211_HUMAN KIAA1211 1027 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) AAGGAAGGGACAGAAGAGGGA 0.652000 3 13 0 0 1 0 0 ZNF157 7712 broad.mit.edu 37 X 47272698 47272698 + Missense_Mutation SNP C C T TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chrX:47272698C>T ENST00000377073.3 + 4 1312 c.1226C>T c.(1225-1227)tCa>tTa p.S409L NM_003446.3 NP_003437.2 P51786 ZN157_HUMAN zinc finger protein 157 409 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 11 AGGATGCATTCAGGAGAGAAA 0.413000 9 26 0 0 1 0 0 ATG9A 79065 broad.mit.edu 37 2 220087403 220087403 + Silent SNP G G C TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr2:220087403G>C ENST00000409618.1 - 11 2251 c.1812C>G c.(1810-1812)ctC>ctG p.L604L ATG9A_ENST00000409422.1_Silent_p.L543L|ATG9A_ENST00000361242.4_Silent_p.L604L|ATG9A_ENST00000396761.2_Silent_p.L604L Q7Z3C6 ATG9A_HUMAN autophagy related 9A 604 autophagic vacuole assembly|protein transport autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1) 13 Renal(207;0.0474) Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TAGACGTAAAGAGGGCATTTT 0.567000 19 113 0 0 1 0 0 PGM1 5236 broad.mit.edu 37 1 64104431 64104431 + Silent SNP G G A TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr1:64104431G>A ENST00000371083.4 + 7 1526 c.1158G>A c.(1156-1158)gcG>gcA p.A386A PGM1_ENST00000371084.3_Silent_p.A368A|PGM1_ENST00000540265.1_Silent_p.A171A NM_001172818.1 NP_001166289.1 P36871 PGM1_HUMAN phosphoglucomutase 1 368 cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 TGATGGACGCGAGCAAACTGT 0.468000 10 96 0 0 1 0 0 ZNF157 7712 broad.mit.edu 37 X 47272569 47272569 + Missense_Mutation SNP C C A TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chrX:47272569C>A ENST00000377073.3 + 4 1183 c.1097C>A c.(1096-1098)tCt>tAt p.S366Y NM_003446.3 NP_003437.2 P51786 ZN157_HUMAN zinc finger protein 157 366 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 11 TGTGGGAAATCTTTCAGGGTG 0.408000 14 27 2.31682e-05 2.43463e-05 1 1 0 FRG1B 0 broad.mit.edu 37 20 29633900 29633900 + Missense_Mutation SNP A A G rs60081496 by1000genomes TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr20:29633900A>G ENST00000278882.3 + 9 919 c.539A>G c.(538-540)gAa>gGa p.E180G FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G p.E180G(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAAACAAGAGAACCAAATTGA 0.264000 4 69 0 0 1 0 0 PCDHGA7 0 broad.mit.edu 37 5 140763752 140763752 + Missense_Mutation SNP C C T TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr5:140763752C>T ENST00000518325.1 + 1 1286 c.1286C>T c.(1285-1287)aCt>aTt p.T429I PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron NM_018920.2 NP_061743.1 NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GATGGTGGAACTCCTCCCTTG 0.448000 7 51 0 0 1 0 0 KLK3 354 broad.mit.edu 37 19 51361464 51361464 + Missense_Mutation SNP C C T TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr19:51361464C>T ENST00000360617.3 + 3 386 c.386C>T c.(385-387)cCt>cTt p.P129L KLK3_ENST00000595952.1_Missense_Mutation_p.P86L|KLK3_ENST00000597483.1_Missense_Mutation_p.P86L|KLK3_ENST00000593997.1_Missense_Mutation_p.P129L|KLK3_ENST00000326003.2_Missense_Mutation_p.P129L P07288 KLK3_HUMAN kallikrein-related peptidase 3 129 Peptidase S1. negative regulation of angiogenesis|proteolysis extracellular region serine-type endopeptidase activity breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144) CTGTCAGAGCCTGCCGAGCTC 0.612000 10 45 0 0 1 0 0 ZNF157 7712 broad.mit.edu 37 X 47272265 47272265 + Nonsense_Mutation SNP C C T TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chrX:47272265C>T ENST00000377073.3 + 4 879 c.793C>T c.(793-795)Cag>Tag p.Q265* NM_003446.3 NP_003437.2 P51786 ZN157_HUMAN zinc finger protein 157 265 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 11 CACGATTCATCAGAGAACTCA 0.433000 7 21 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108117615 108117615 + Missense_Mutation SNP G G A TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr3:108117615G>A ENST00000273353.3 - 36 5118 c.5062C>T c.(5062-5064)Cgg>Tgg p.R1688W NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 1688 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 GAGTTGCGCCGCTCAGCCACA 0.542000 5 223 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A rs77484671 TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr1:145367767G>A ENST00000342960.5 + 83 10398 c.10363G>A c.(10363-10365)Gaa>Aaa p.E3455K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3455 p.E3455K(5) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) atcaaagaaggaaagaagaag 0.423000 8 108 0 0 1 0 0 PPT2-EGFL8 0 broad.mit.edu 37 6 32123649 32123649 + Splice_Site SNP C C A TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr6:32123649C>A ENST00000422437.1 + 5 626 c.433_splice c.e5-1 p.D145_splice PPT2_ENST00000493548.1_3'UTR|PPT2_ENST00000361568.2_Splice_Site_p.D151_splice|PPT2_ENST00000375137.2_Splice_Site_p.D145_splice|PPT2_ENST00000324816.6_Splice_Site_p.D145_splice|PPT2_ENST00000445576.2_Splice_Site_p.D145_splice|PPT2_ENST00000375143.2_Splice_Site_p.D145_splice|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000437001.2_Splice_Site_p.D22_splice|PPT2_ENST00000395523.1_Splice_Site_p.D145_splice GCTTGCCAGACACGGACTACT 0.522000 12 70 4.36969e-10 4.753e-10 1 1 0 LFNG 3955 broad.mit.edu 37 7 2566511 2566511 + Silent SNP C C G TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr7:2566511C>G ENST00000222725.5 + 7 1049 c.1029C>G c.(1027-1029)gcC>gcG p.A343A LFNG_ENST00000359574.3_Silent_p.A343A|LFNG_ENST00000338732.3_Silent_p.A214A|LFNG_ENST00000402045.1_Silent_p.A214A|LFNG_ENST00000402506.1_Silent_p.A272A NM_001040167.1 NP_001035257.1 Q8NES3 LFNG_HUMAN LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase 343 organ morphogenesis extracellular region|integral to Golgi membrane O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2) 6 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.54e-14) AGCGGAACGCCGTCCACGTGA 0.677000 5 26 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152128186 152128186 + Silent SNP A A G TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr1:152128186A>G ENST00000316073.3 - 3 1453 c.1389T>C c.(1387-1389)taT>taC p.Y463Y NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 463 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 CTGTCTGACCATAGTGGGAAC 0.512000 5 898 0 0 1 0 0 FPR3 2359 broad.mit.edu 37 19 52327505 52327505 + Missense_Mutation SNP T T A TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr19:52327505T>A ENST00000339223.4 + 2 683 c.504T>A c.(502-504)agT>agA p.S168R FPR3_ENST00000595991.1_Missense_Mutation_p.S168R NM_002030.3 NP_002021.3 P25089 FPR3_HUMAN formyl peptide receptor 3 168 cellular component movement|chemotaxis integral to membrane|plasma membrane N-formyl peptide receptor activity NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3) 35 CTACAATAAGTACTACGAATG 0.453000 27 106 0 0 1 0 0 DVL1 1855 broad.mit.edu 37 1 1277187 1277187 + Splice_Site SNP T T C TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr1:1277187T>C ENST00000378888.5 - 5 751 c.e5-2 DVL1_ENST00000378891.5_Splice_Site O14640 DVL1_HUMAN dishevelled segment polarity protein 1 canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome frizzled binding|identical protein binding|protein kinase binding|signal transducer activity endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) TCCGGGCGGCTGTGGGGGCAG 0.687000 4 2 0 0 1 0 0 RMI1 80010 broad.mit.edu 37 9 86617189 86617189 + Missense_Mutation SNP A A G TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr9:86617189A>G ENST00000325875.3 + 3 1620 c.1288A>G c.(1288-1290)Acc>Gcc p.T430A NM_024945.2 NP_079221.2 Q9H9A7 RMI1_HUMAN RecQ mediated genome instability 1 430 DNA replication nucleus biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 AATAAAACAAACCAGCAGTTC 0.289000 10 54 0 0 1 0 0 ZNF844 284391 broad.mit.edu 37 19 12187394 12187394 + Missense_Mutation SNP T T C TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr19:12187394T>C ENST00000439326.3 + 4 1634 c.1459T>C c.(1459-1461)Ttt>Ctt p.F487L ZNF844_ENST00000441304.2_3'UTR NM_001136501.1 NP_001129973.1 Q08AG5 ZN844_HUMAN zinc finger protein 844 487 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.F487L(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1) 10 GCCTTCATTTTTTCCACTTCC 0.448000 3 59 0 0 1 0 0 PHC1 1911 broad.mit.edu 37 12 9086978 9086978 + Missense_Mutation SNP G G T TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr12:9086978G>T ENST00000433083.2 + 9 2167 c.2022G>T c.(2020-2022)atG>atT p.M674I PHC1_ENST00000543824.1_Missense_Mutation_p.M719I|PHC1_ENST00000536844.1_Missense_Mutation_p.M325I|PHC1_ENST00000544916.1_Missense_Mutation_p.M719I P78364 PHC1_HUMAN polyhomeotic homolog 1 (Drosophila) 719 multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 27 CTAGACAAATGGGTGACTCAA 0.517000 17 59 9.7654e-05 0.000100909 1 1 0 DDX11 1663 broad.mit.edu 37 12 31236844 31236844 + Missense_Mutation SNP C C G TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr12:31236844C>G ENST00000251758.5 + 3 493 c.242C>G c.(241-243)aCt>aGt p.T81S DDX11_ENST00000228264.6_Missense_Mutation_p.T55S|DDX11_ENST00000545668.1_Missense_Mutation_p.T81S|DDX11_ENST00000407793.2_Missense_Mutation_p.T81S|DDX11_ENST00000542838.1_Missense_Mutation_p.T81S|DDX11_ENST00000350437.4_Missense_Mutation_p.T81S Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 81 Helicase ATP-binding. G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) GAAACTGGAACTGGCCCCTTA 0.547000 Multiple Myeloma(12;0.14) 12 77 0 0 1 0 0 PTPRC 5788 broad.mit.edu 37 1 198704261 198704261 + Silent SNP G G A TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr1:198704261G>A ENST00000367376.2 + 23 2448 c.2277G>A c.(2275-2277)aaG>aaA p.K759K PTPRC_ENST00000352140.3_Silent_p.K711K|PTPRC_ENST00000442510.2_Silent_p.K761K|PTPRC_ENST00000594404.1_Silent_p.K598K|PTPRC_ENST00000348564.6_Silent_p.K600K NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 759 Tyrosine-protein phosphatase 1. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 tGTAGAACAAGTGTGCAGAAT 0.318000 6 35 0 0 1 0 0 SPCS1 28972 broad.mit.edu 37 3 52741717 52741717 + Silent SNP A A G TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr3:52741717A>G ENST00000233025.7 + 4 809 c.399A>G c.(397-399)ccA>ccG p.P133P SPCS1_ENST00000423431.1_Silent_p.P44P|SPCS1_ENST00000602728.1_Silent_p.P66P NM_014041.3 NP_054760.3 Q9Y6A9 SPCS1_HUMAN signal peptidase complex subunit 1 homolog (S. cerevisiae) 133 energy reserve metabolic process|regulation of insulin secretion|signal peptide processing integral to endoplasmic reticulum membrane|microsome|signal peptidase complex peptidase activity kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1) 6 BRCA - Breast invasive adenocarcinoma(193;6.51e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)|OV - Ovarian serous cystadenocarcinoma(275;0.0469) CACTTCCTCCATGGCCCATCT 0.413000 22 119 0 0 1 0 0 CNBD1 168975 broad.mit.edu 37 8 87951839 87951839 + Silent SNP C C T TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr8:87951839C>T ENST00000518476.1 + 4 339 c.288C>T c.(286-288)ggC>ggT p.G96G NM_173538.2 NP_775809.1 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 96 breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1) 32 TCAATGAAGGCAAAGAGGAAA 0.338000 8 42 0 0 1 0 0 AC004381.6 0 broad.mit.edu 37 16 20824580 20824580 + Missense_Mutation SNP G G T TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr16:20824580G>T ENST00000261377.6 + 3 416 c.207G>T c.(205-207)ttG>ttT p.L69F ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000348433.6_Missense_Mutation_p.L69F|AC004381.6_ENST00000567297.1_3'UTR|AC004381.6_ENST00000564274.1_Missense_Mutation_p.L69F NM_001199053.1|NM_030941.2 NP_001185982.1|NP_112203.2 TGTGTGAATTGCTGAAGTATG 0.398000 3 48 0.115264 0.115264 1 1 0 ULK4 54986 broad.mit.edu 37 3 41877429 41877429 + Missense_Mutation SNP T T C TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr3:41877429T>C ENST00000301831.4 - 18 2153 c.1691A>G c.(1690-1692)aAc>aGc p.N564S NM_017886.2 NP_060356.2 Q96C45 ULK4_HUMAN unc-51 like kinase 4 564 AIVLLTELIRENFRNSKLKQCLLPTLGE -> TTSSIGIGI LNCLVQHSTPVPRQCLVYV (in Ref. 3; AAH14794). ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(284;0.214) GTTCCTGAAGTTTTCCCTAAT 0.358000 18 115 0 0 1 0 0 ILF2 3608 broad.mit.edu 37 1 153635689 153635689 + Splice_Site SNP A A T TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr1:153635689A>T ENST00000361891.4 - 11 932 c.e11+1 ILF2_ENST00000480213.1_5'UTR NM_001267809.1|NM_004515.3 NP_001254738.1|NP_004506.2 Q12905 ILF2_HUMAN interleukin enhancer binding factor 2 immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|ribonucleoprotein complex ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity cervix(1)|kidney(1)|lung(4)|skin(1) 7 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) AGCATGCTGTACCTGTATGCA 0.448000 31 189 0 0 1 0 0 ZNF157 7712 broad.mit.edu 37 X 47272589 47272589 + Missense_Mutation SNP C C G TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chrX:47272589C>G ENST00000377073.3 + 4 1203 c.1117C>G c.(1117-1119)Ctt>Gtt p.L373V NM_003446.3 NP_003437.2 P51786 ZN157_HUMAN zinc finger protein 157 373 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 11 GCACTCATCTCTTGGGATCCA 0.413000 12 29 0 0 1 0 0 IGKV2D-29 0 broad.mit.edu 37 2 89986989 89986989 + RNA SNP C C T TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr2:89986989C>T ENST00000491977.1 + 0 300 TCAGTGGCAGCGGGTCAGGGA 0.517000 13 47 0 0 1 0 0 CHN1 1123 broad.mit.edu 37 2 175673684 175673684 + Missense_Mutation SNP G G A TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr2:175673684G>A ENST00000409900.3 - 11 1364 c.1051C>T c.(1051-1053)Cca>Tca p.P351S CHN1_ENST00000409597.1_Missense_Mutation_p.P167S|CHN1_ENST00000409156.3_Missense_Mutation_p.P325S|CHN1_ENST00000295497.7_Missense_Mutation_p.P226S|CHN1_ENST00000488080.1_5'UTR NM_001822.5 NP_001813.1 P15882 CHIN_HUMAN chimerin 1 351 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity p.P351T(1)|p.P226T(1) NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.226) AGTGGAATTGGCAAATCCCTG 0.368000 T TAF15 extraskeletal myxoid chondrosarcoma 4 113 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114270000 114270000 + Silent SNP G G A TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr7:114270000G>A ENST00000393500.3 + 11 1132 c.312G>A c.(310-312)caG>caA p.Q104Q FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000378237.3_Silent_p.Q179Q O15409 FOXP2_HUMAN forkhead box P2 179 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q204Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcaacaacagcagcagcagc 0.498000 3 45 0 0 1 0 0 ABCA17P 0 broad.mit.edu 37 16 2475097 2475098 + RNA DEL TC TC - TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr16:2475097_2475098delTC ENST00000469908.1 + 0 3047 NR_003574.1 GGTAActctgtctctctctctc 0.559 2 4 --- --- --- --- LDHD 197257 broad.mit.edu 37 16 75148567 75148567 + Frame_Shift_Del DEL G G - TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr16:75148567delG ENST00000300051.4 - 5 532 c.486delC c.(484-486)gcfs p.A162fs LDHD_ENST00000450168.2_Frame_Shift_Del_p.A162fs NM_153486.3 NP_705690.2 Q86WU2 LDHD_HUMAN lactate dehydrogenase D 162 FAD-binding PCMH-type. D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1) 16 CACAGAGAGAGGCGTCCGCGC 0.706 2 4 --- --- --- --- MMP11 4320 broad.mit.edu 37 22 24123200 24123200 + Frame_Shift_Del DEL T T - TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr22:24123200delT ENST00000215743.3 + 5 823 c.771delT c.(769-771)tafs p.Y257fs NM_005940.3 NP_005931.2 P24347 MMP11_HUMAN matrix metallopeptidase 11 (stromelysin 3) 257 collagen catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 27 Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318) AACACCTATATGGCCAGCCCT 0.622 12 45 --- --- --- --- GAS2L1 10634 broad.mit.edu 37 22 29707498 29707498 + Frame_Shift_Del DEL G G - TCGA-ZG-A9LN-01A-11D-A41K-08 TCGA-ZG-A9LN-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd8c6e47-fb57-4114-ab7a-9c49e5ff0613 668c30db-01b0-478c-8a8a-864043eb6519 g.chr22:29707498delG ENST00000471961.1 + 5 2105 c.1057delG c.(1057-1059)ggfs p.G353fs GAS2L1_ENST00000341313.6_3'UTR|GAS2L1_ENST00000360113.2_Frame_Shift_Del_p.P295fs|GAS2L1_ENST00000406549.3_Intron|GAS2L1_ENST00000403764.1_Frame_Shift_Del_p.G353fs|GAS2L1_ENST00000407647.2_Frame_Shift_Del_p.G353fs|GAS2L1_ENST00000407854.1_Frame_Shift_Del_p.G353fs Q99501 GA2L1_HUMAN growth arrest-specific 2 like 1 353 cell cycle arrest cytoplasm|cytoskeleton endometrium(2)|lung(2)|prostate(1) 5 CCGCTACTCCGGGGACAGTGA 0.706 2 4 --- --- --- ---