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 COG5 10466 broad.mit.edu 37 7 107167714 107167714 + Missense_Mutation SNP A A G TCGA-QR-A70Q-01A-13D-A35D-08 TCGA-QR-A70Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceb88eff-474b-4640-bb0f-c69066b69dac e2fe5304-a8b9-49ba-997c-7c930b54f411 g.chr7:107167714A>G ENST00000393603.2 - 6 870 c.599T>C c.(598-600)aTa>aCa p.I200T COG5_ENST00000475638.2_5'UTR|COG5_ENST00000347053.3_Missense_Mutation_p.I200T|COG5_ENST00000297135.3_Missense_Mutation_p.I200T NM_001161520.1 NP_001154992.1 Q9UP83 COG5_HUMAN component of oligomeric golgi complex 5 200 intra-Golgi vesicle-mediated transport|protein transport cytosol|Golgi membrane|Golgi transport complex|nucleus protein binding breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1) 40 AGCTTTTGTTATCTCTCTACT 0.348000 5 56 0 0 1 0 0 FEM1A 55527 broad.mit.edu 37 19 4793717 4793717 + Silent SNP C C A TCGA-QR-A70Q-01A-13D-A35D-08 TCGA-QR-A70Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceb88eff-474b-4640-bb0f-c69066b69dac e2fe5304-a8b9-49ba-997c-7c930b54f411 g.chr19:4793717C>A ENST00000269856.3 + 1 1990 c.1851C>A c.(1849-1851)gcC>gcA p.A617A AC005523.2_ENST00000601192.1_RNA NM_018708.2 NP_061178.1 Q9BSK4 FEM1A_HUMAN fem-1 homolog a (C. elegans) 617 regulation of ubiquitin-protein ligase activity cytoplasm binding|ubiquitin-protein ligase activity p.A617A(4) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 17 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) AGAAGACGGCCTACGAGCTGC 0.607000 4 44 1 1 1 1 0 WDR33 55339 broad.mit.edu 37 2 128522429 128522429 + Missense_Mutation SNP G G A TCGA-QR-A70Q-01A-13D-A35D-08 TCGA-QR-A70Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceb88eff-474b-4640-bb0f-c69066b69dac e2fe5304-a8b9-49ba-997c-7c930b54f411 g.chr2:128522429G>A ENST00000322313.4 - 6 757 c.599C>T c.(598-600)gCa>gTa p.A200V WDR33_ENST00000393006.1_Missense_Mutation_p.A200V|WDR33_ENST00000409658.3_Missense_Mutation_p.A200V NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 200 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) CTCCTTATGTGCCTGGAACAT 0.413000 17 137 0 0 1 0 0 TMC1 117531 broad.mit.edu 37 9 75420375 75420375 + Missense_Mutation SNP T T G TCGA-QR-A70Q-01A-13D-A35D-08 TCGA-QR-A70Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceb88eff-474b-4640-bb0f-c69066b69dac e2fe5304-a8b9-49ba-997c-7c930b54f411 g.chr9:75420375T>G ENST00000297784.5 + 18 2184 c.1644T>G c.(1642-1644)tgT>tgG p.C548W TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000340019.3_Missense_Mutation_p.C548W|TMC1_ENST00000396237.3_Missense_Mutation_p.C548W NM_138691.2 NP_619636.2 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 548 sensory perception of sound integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 36 TAAGGGCATGTTTTGTGAGGT 0.353000 9 201 0 0 1 0 0 CCT4 10575 broad.mit.edu 37 2 62099293 62099293 + Missense_Mutation SNP T T C TCGA-QR-A70Q-01A-13D-A35D-08 TCGA-QR-A70Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceb88eff-474b-4640-bb0f-c69066b69dac e2fe5304-a8b9-49ba-997c-7c930b54f411 g.chr2:62099293T>C ENST00000394440.3 - 12 1711 c.1415A>G c.(1414-1416)aAt>aGt p.N472S CCT4_ENST00000461540.2_Intron|CCT4_ENST00000544079.1_Missense_Mutation_p.N442S|CCT4_ENST00000544185.1_Missense_Mutation_p.N322S|AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000538252.1_Missense_Mutation_p.N416S NM_006430.3 NP_006421.2 P50991 TCPD_HUMAN chaperonin containing TCP1, subunit 4 (delta) 472 'de novo' posttranslational protein folding melanosome|microtubule organizing center|nucleus ATP binding|unfolded protein binding breast(1)|large_intestine(2)|lung(6)|ovary(2) 11 Lung NSC(7;0.035)|all_lung(7;0.0691) LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221) AGAAATGGGATTCAGGCCGGC 0.433000 44 91 0 0 1 0 0 AHCY 191 broad.mit.edu 37 20 32878371 32878371 + Silent SNP G G A TCGA-QR-A70Q-01A-13D-A35D-08 TCGA-QR-A70Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceb88eff-474b-4640-bb0f-c69066b69dac e2fe5304-a8b9-49ba-997c-7c930b54f411 g.chr20:32878371G>A ENST00000538132.1 - 7 1142 c.756C>T c.(754-756)gaC>gaT p.D252D AHCY_ENST00000217426.2_Silent_p.D280D NM_001161766.1 NP_001155238.1 P23526 SAHH_HUMAN adenosylhomocysteinase 280 methylation|xenobiotic metabolic process cytosol|melanosome adenosylhomocysteinase activity|protein binding endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 CAAGGATGATGTCAATACAGC 0.587000 5 189 0 0 1 0 0 ZNF844 284391 broad.mit.edu 37 19 12187275 12187275 + Missense_Mutation SNP G G C TCGA-QR-A70Q-01A-13D-A35D-08 TCGA-QR-A70Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceb88eff-474b-4640-bb0f-c69066b69dac e2fe5304-a8b9-49ba-997c-7c930b54f411 g.chr19:12187275G>C ENST00000439326.3 + 4 1515 c.1340G>C c.(1339-1341)cGt>cCt p.R447P ZNF844_ENST00000441304.2_3'UTR NM_001136501.1 NP_001129973.1 Q08AG5 ZN844_HUMAN zinc finger protein 844 447 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R447P(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1) 10 GAGAGAAACCGTATGAGTGTA 0.433000 4 134 0 0 1 0 0 TADA3 10474 broad.mit.edu 37 3 9831245 9831245 + Missense_Mutation SNP C C T rs149462962 TCGA-QR-A70Q-01A-13D-A35D-08 TCGA-QR-A70Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceb88eff-474b-4640-bb0f-c69066b69dac e2fe5304-a8b9-49ba-997c-7c930b54f411 g.chr3:9831245C>T ENST00000343450.2 - 4 1059 c.512G>A c.(511-513)cGc>cAc p.R171H TADA3_ENST00000301964.2_Missense_Mutation_p.R171H|TADA3_ENST00000440161.1_Missense_Mutation_p.R171H NM_133480.1 NP_597814.1 O75528 TADA3_HUMAN transcriptional adaptor 3 171 estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 16 CTCAAGTGTGCGGACCTCCTC 0.562000 3 39 0 0 1 0 0 DEFB112 245915 broad.mit.edu 37 6 50011343 50011343 + Missense_Mutation SNP A A T TCGA-QR-A70Q-01A-13D-A35D-08 TCGA-QR-A70Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceb88eff-474b-4640-bb0f-c69066b69dac e2fe5304-a8b9-49ba-997c-7c930b54f411 g.chr6:50011343A>T ENST00000322246.4 - 2 286 c.287T>A c.(286-288)aTc>aAc p.I96N NM_001037498.1 NP_001032587.1 Q30KQ8 DB112_HUMAN defensin, beta 112 96 defense response to bacterium extracellular region central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 19 Lung NSC(77;0.042) GTCCTTTGGGATCCAATTATT 0.413000 12 70 0 0 1 0 0 ALB 213 broad.mit.edu 37 4 74280766 74280766 + Missense_Mutation SNP A A G TCGA-QR-A70Q-01A-13D-A35D-08 TCGA-QR-A70Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceb88eff-474b-4640-bb0f-c69066b69dac e2fe5304-a8b9-49ba-997c-7c930b54f411 g.chr4:74280766A>G ENST00000295897.4 + 9 1162 c.1073A>G c.(1072-1074)tAt>tGt p.Y358C ALB_ENST00000509063.1_Missense_Mutation_p.Y358C|ALB_ENST00000503124.1_Missense_Mutation_p.Y208C|ALB_ENST00000415165.2_Missense_Mutation_p.Y166C|ALB_ENST00000401494.3_Missense_Mutation_p.Y243C|ALB_ENST00000505649.1_3'UTR NM_000477.5 NP_000468.1 P02768 ALBU_HUMAN albumin 358 Albumin 2. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 48 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) TTGTATGAATATGCAAGAAGG 0.373000 5 143 0 0 1 0 0 ARSA 410 broad.mit.edu 37 22 51065311 51065311 + Missense_Mutation SNP G G A TCGA-QR-A70Q-01A-13D-A35D-08 TCGA-QR-A70Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceb88eff-474b-4640-bb0f-c69066b69dac e2fe5304-a8b9-49ba-997c-7c930b54f411 g.chr22:51065311G>A ENST00000547307.1 - 3 1034 c.629C>T c.(628-630)gCc>gTc p.A210V ARSA_ENST00000356098.5_Missense_Mutation_p.A212V|ARSA_ENST00000395619.3_Missense_Mutation_p.A212V|ARSA_ENST00000216124.5_Missense_Mutation_p.A212V|ARSA_ENST00000395621.3_Missense_Mutation_p.A212V|ARSA_ENST00000547805.1_Missense_Mutation_p.A210V|ARSA_ENST00000453344.2_Missense_Mutation_p.A126V P15289 ARSA_HUMAN arylsulfatase A 210 lysosome arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1) 9 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) Micafungin(DB01141) CTGGGCGTCGGCCATGAGGTC 0.657000 4 157 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-QR-A70Q-01A-13D-A35D-08 TCGA-QR-A70Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceb88eff-474b-4640-bb0f-c69066b69dac e2fe5304-a8b9-49ba-997c-7c930b54f411 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 60 0 0 1 0 0 NUP188 23511 broad.mit.edu 37 9 131760467 131760467 + Missense_Mutation SNP G G A TCGA-QR-A70Q-01A-13D-A35D-08 TCGA-QR-A70Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceb88eff-474b-4640-bb0f-c69066b69dac e2fe5304-a8b9-49ba-997c-7c930b54f411 g.chr9:131760467G>A ENST00000372577.2 + 31 3410 c.3389G>A c.(3388-3390)cGc>cAc p.R1130H NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 1130 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 GTGGTGCGTCGCCAGCTCTTT 0.438000 5 363 0 0 1 0 0 ZNF878 729747 broad.mit.edu 37 19 12155673 12155673 + Missense_Mutation SNP A A C TCGA-QR-A70Q-01A-13D-A35D-08 TCGA-QR-A70Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceb88eff-474b-4640-bb0f-c69066b69dac e2fe5304-a8b9-49ba-997c-7c930b54f411 g.chr19:12155673A>C ENST00000602107.1 - 5 683 c.684T>G c.(682-684)agT>agG p.S228R ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron C9JN71 ZN878_HUMAN zinc finger protein 878 181 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 AACTGGGAAAACTGAATGCTT 0.403000 4 294 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-QR-A70Q-01A-13D-A35D-08 TCGA-QR-A70Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceb88eff-474b-4640-bb0f-c69066b69dac e2fe5304-a8b9-49ba-997c-7c930b54f411 g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 3 26 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-QR-A70Q-01A-13D-A35D-08 TCGA-QR-A70Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceb88eff-474b-4640-bb0f-c69066b69dac e2fe5304-a8b9-49ba-997c-7c930b54f411 g.chr19:53856730G>A ENST00000458035.1 + 4 2919 c.2802G>A c.(2800-2802)aaG>aaA p.K934K ZNF845_ENST00000595091.1_Silent_p.K934K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 934 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K934K(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TAATTCATAAGACAATTCATA 0.368000 3 48 0 0 1 0 0 DPPA4 55211 broad.mit.edu 37 3 109050579 109050579 + Splice_Site SNP A A G TCGA-QR-A70Q-01A-13D-A35D-08 TCGA-QR-A70Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceb88eff-474b-4640-bb0f-c69066b69dac e2fe5304-a8b9-49ba-997c-7c930b54f411 g.chr3:109050579A>G ENST00000335658.6 - 4 445 c.e4+1 DPPA4_ENST00000478791.1_Splice_Site NM_018189.3 NP_060659.3 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 nucleus protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 TTAAAAAGTTACCTTTTGATT 0.398000 4 65 0 0 1 0 0 PPP1R13L 10848 broad.mit.edu 37 19 45900240 45900240 + Missense_Mutation SNP C C G TCGA-QR-A70Q-01A-13D-A35D-08 TCGA-QR-A70Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceb88eff-474b-4640-bb0f-c69066b69dac e2fe5304-a8b9-49ba-997c-7c930b54f411 g.chr19:45900240C>G ENST00000418234.2 - 4 353 c.275G>C c.(274-276)gGc>gCc p.G92A PPP1R13L_ENST00000360957.5_Missense_Mutation_p.G92A NM_001142502.1 NP_001135974.1 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 like 92 Pro-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) GGTGTCTGCGCCGTCGGTGGC 0.721000 5 13 0 0 1 0 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29977342 29977342 + RNA SNP A A T rs116382006 by1000genomes TCGA-QR-A70Q-01A-13D-A35D-08 TCGA-QR-A70Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceb88eff-474b-4640-bb0f-c69066b69dac e2fe5304-a8b9-49ba-997c-7c930b54f411 g.chr6:29977342A>T ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA TGGGACTGAGAGGCAAGATTT 0.438000 5 85 0 0 1 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142481251 142481251 + RNA SNP A A C rs140137372 by1000genomes TCGA-QR-A70Q-01A-13D-A35D-08 TCGA-QR-A70Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceb88eff-474b-4640-bb0f-c69066b69dac e2fe5304-a8b9-49ba-997c-7c930b54f411 g.chr7:142481251A>C ENST00000603901.1 + 0 325 NR_001296.3 CAATGACATCATGCTGATCAA 0.522000 4 74 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100369721 100369721 + RNA DEL T T - TCGA-QR-A70Q-01A-13D-A35D-08 TCGA-QR-A70Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceb88eff-474b-4640-bb0f-c69066b69dac e2fe5304-a8b9-49ba-997c-7c930b54f411 g.chr7:100369721delT ENST00000542585.1 + 0 5573 ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ctctaaattcttttttttttt 0.532 3 4 --- --- --- --- MROH5 389690 broad.mit.edu 37 8 142459777 142459778 + RNA INS - - A rs144781370 by1000genomes TCGA-QR-A70Q-01A-13D-A35D-08 TCGA-QR-A70Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceb88eff-474b-4640-bb0f-c69066b69dac e2fe5304-a8b9-49ba-997c-7c930b54f411 g.chr8:142459777_142459778insA ENST00000430863.1 - 0 2629_2630 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 GCAGACAGGCCAGCAGTGTGGT 0.678 4 2 --- --- --- --- DCHS1 8642 broad.mit.edu 37 11 6662745 6662746 + In_Frame_Ins INS - - CAG rs56194704 TCGA-QR-A70Q-01A-13D-A35D-08 TCGA-QR-A70Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceb88eff-474b-4640-bb0f-c69066b69dac e2fe5304-a8b9-49ba-997c-7c930b54f411 g.chr11:6662745_6662746insCAG ENST00000299441.3 - 2 510_511 c.99_100insCTG c.(97-102)ctgggc>ctCTGgggc p.33_34LG>LWG NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 33 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.L33_G34insL(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACCCCAGCCCCcagcagcagca 0.639 5 5 --- --- --- --- SHROOM4 57477 broad.mit.edu 37 X 50350711 50350713 + In_Frame_Del DEL TCC TCC - rs6614551 TCGA-QR-A70Q-01A-13D-A35D-08 TCGA-QR-A70Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceb88eff-474b-4640-bb0f-c69066b69dac e2fe5304-a8b9-49ba-997c-7c930b54f411 g.chrX:50350711_50350713delTCC ENST00000376020.2 - 6 3454_3456 c.3429_3431delGGA c.(3427-3432)gaa>ga p.EE1149del SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1149del|SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1033del NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 1149 Glu-rich. actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) ctcttcctcttcctcttcttctt 0.547 4 5 --- --- --- ---