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 isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample PTGFR 5737 broad.mit.edu 37 1 78958508 78958508 + Missense_Mutation SNP G G A TCGA-CF-A3MF-01A-12D-A21A-08 TCGA-CF-A3MF-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c66c92d5-df65-46e6-861d-d8a98808e6a3 d6e91f4c-38c0-4393-9cb7-be076663dff3 g.chr1:78958508G>A uc001din.2 + 2 346 c.80G>A c.(79-81)CGG>CAG p.R27Q PTGFR_uc001dim.2_Missense_Mutation_p.R27Q NM_000959 NP_000950 P43088 PF2R_HUMAN prostaglandin F receptor isoform a precursor 27 Extracellular (Potential). parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity ovary(3)|breast(2)|skin(1) 6 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) ACGGAAAACCGGCTTTCCGTA 0.438 NaN 0 0 0 0.001168 0 5 54 NBPF14 25832 broad.mit.edu 37 1 148015635 148015635 + Silent SNP A A C TCGA-CF-A3MF-01A-12D-A21A-08 TCGA-CF-A3MF-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c66c92d5-df65-46e6-861d-d8a98808e6a3 d6e91f4c-38c0-4393-9cb7-be076663dff3 g.chr1:148015635A>C uc001eqq.2 - 8 1013 c.996T>G c.(994-996)GTT>GTG p.V332V LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqf.2_Intron|LOC200030_uc001eqg.2_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc010pab.1_Intron|NBPF14_uc010pac.1_Intron|NBPF14_uc001eqx.2_Intron|NBPF14_uc010pae.1_Intron|NBPF14_uc010paf.1_Intron|NBPF14_uc001eqs.1_Silent_p.V211V NM_015383 NP_056198 Q5TI25 NBPFE_HUMAN hypothetical protein LOC25832 332 NBPF 3. cytoplasm ovary(1) 1 all_hematologic(923;0.032) CATCCATGTTAACAGCCAAGC 0.468 NaN 0 0 0 0.004672 0 2 3 ANKRD2 26287 broad.mit.edu 37 10 99338106 99338106 + Missense_Mutation SNP G G A TCGA-CF-A3MF-01A-12D-A21A-08 TCGA-CF-A3MF-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c66c92d5-df65-46e6-861d-d8a98808e6a3 d6e91f4c-38c0-4393-9cb7-be076663dff3 g.chr10:99338106G>A uc001knw.2 + 3 589 c.380G>A c.(379-381)CGG>CAG p.R127Q ANKRD2_uc009xvu.2_Missense_Mutation_p.R127Q NM_020349 NP_065082 Q9GZV1 ANKR2_HUMAN ankyrin repeat domain 2 isoform a 127 muscle contraction|muscle organ development structural constituent of muscle 0 all_hematologic(284;1.95e-06)|Colorectal(252;0.0163) Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241) CAGAAGAAGCGGGACGCTCTG 0.687 NaN 0 0 0 0.008291 0 9 60 PNLIP 5406 broad.mit.edu 37 10 118314751 118314751 + Silent SNP C C T TCGA-CF-A3MF-01A-12D-A21A-08 TCGA-CF-A3MF-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c66c92d5-df65-46e6-861d-d8a98808e6a3 d6e91f4c-38c0-4393-9cb7-be076663dff3 g.chr10:118314751C>T uc001lcm.2 + 7 676 c.633C>T c.(631-633)AGC>AGT p.S211S NM_000936 NP_000927 P16233 LIPP_HUMAN pancreatic lipase precursor 211 lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) TGGACCCCAGCGATGCCAAAT 0.483 NaN 0 0 0 0.00499 0 14 56 ATG16L2 89849 broad.mit.edu 37 11 72536397 72536397 + Missense_Mutation SNP C C A TCGA-CF-A3MF-01A-12D-A21A-08 TCGA-CF-A3MF-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c66c92d5-df65-46e6-861d-d8a98808e6a3 d6e91f4c-38c0-4393-9cb7-be076663dff3 g.chr11:72536397C>A uc001otd.2 + 10 1087 c.1047C>A c.(1045-1047)AGC>AGA p.S349R ATG16L2_uc001ote.2_Missense_Mutation_p.S243R|ATG16L2_uc009ytj.1_Intron|ATG16L2_uc001otf.2_Missense_Mutation_p.S104R|ATG16L2_uc001otg.2_Missense_Mutation_p.S83R|ATG16L2_uc009ytk.2_Missense_Mutation_p.S104R NM_033388 NP_203746 Q8NAA4 A16L2_HUMAN ATG16 autophagy related 16-like 2 349 WD 1. autophagy|protein transport cytoplasm protein binding 0 BRCA - Breast invasive adenocarcinoma(5;2.73e-06) CCAACAGCAGCCTCCTGGCCA 0.627 NaN 1 0 1.39924e-13 0.01441 1.57863e-13 39 84 RFX4 5992 broad.mit.edu 37 12 107155161 107155161 + Missense_Mutation SNP C C T TCGA-CF-A3MF-01A-12D-A21A-08 TCGA-CF-A3MF-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c66c92d5-df65-46e6-861d-d8a98808e6a3 d6e91f4c-38c0-4393-9cb7-be076663dff3 g.chr12:107155161C>T uc001tlr.2 + 18 2188 c.2122C>T c.(2122-2124)CGC>TGC p.R708C RFX4_uc001tlt.2_Missense_Mutation_p.R717C|RFX4_uc001tlv.2_Missense_Mutation_p.R614C NM_213594 NP_998759 Q33E94 RFX4_HUMAN regulatory factor X4 isoform c 708 transcription, DNA-dependent nucleus DNA binding upper_aerodigestive_tract(1) 1 TCTGACAACGCGCAGGAATTC 0.512 NaN 0 0 0 0.003163 0 16 81 ZNF10 7556 broad.mit.edu 37 12 133732511 133732511 + Nonsense_Mutation SNP C C T TCGA-CF-A3MF-01A-12D-A21A-08 TCGA-CF-A3MF-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c66c92d5-df65-46e6-861d-d8a98808e6a3 d6e91f4c-38c0-4393-9cb7-be076663dff3 g.chr12:133732511C>T uc009zzb.2 + 5 1126 c.679C>T c.(679-681)CAG>TAG p.Q227* ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.2_Nonsense_Mutation_p.Q227* NM_015394 NP_056209 P21506 ZNF10_HUMAN zinc finger protein 10 227 C2H2-type 1; atypical. Missing (in Ref. 1). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|skin(1) 3 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) TCACCTTATTCAGTTTGCAAG 0.358 NaN 0 0 0 0.00245 0 13 73 UPF3A 65110 broad.mit.edu 37 13 115047559 115047559 + Silent SNP C C T TCGA-CF-A3MF-01A-12D-A21A-08 TCGA-CF-A3MF-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c66c92d5-df65-46e6-861d-d8a98808e6a3 d6e91f4c-38c0-4393-9cb7-be076663dff3 g.chr13:115047559C>T uc001vup.2 + 2 308 c.271C>T c.(271-273)CTG>TTG p.L91L UPF3A_uc010tkn.1_Silent_p.L91L|UPF3A_uc001vuq.2_Silent_p.L91L|UPF3A_uc001vus.2_RNA|UPF3A_uc001vur.2_RNA NM_023011 NP_075387 Q9H1J1 REN3A_HUMAN UPF3 regulator of nonsense transcripts homolog A 91 Required for interaction with UPF2. mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation cytoplasm|nucleus|plasma membrane nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding skin(1) 1 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2) GCTGCGCCCGCTGCCAGCACA 0.731 NaN 0 0 0 0.009096 0 4 16 HSD11B2 3291 broad.mit.edu 37 16 67470804 67470804 + Silent SNP G G A TCGA-CF-A3MF-01A-12D-A21A-08 TCGA-CF-A3MF-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c66c92d5-df65-46e6-861d-d8a98808e6a3 d6e91f4c-38c0-4393-9cb7-be076663dff3 g.chr16:67470804G>A uc002etd.2 + 5 1232 c.1116G>A c.(1114-1116)CTG>CTA p.L372L NM_000196 NP_000187 P80365 DHI2_HUMAN hydroxysteroid (11-beta) dehydrogenase 2 372 glucocorticoid biosynthetic process endoplasmic reticulum|microsome 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891) NADH(DB00157) GTCACTGTCTGCCTCGAGCAC 0.662 NaN 0 0 0 0.01441 0 49 134 KLHDC4 54758 broad.mit.edu 37 16 87743024 87743024 + Missense_Mutation SNP G G A TCGA-CF-A3MF-01A-12D-A21A-08 TCGA-CF-A3MF-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c66c92d5-df65-46e6-861d-d8a98808e6a3 d6e91f4c-38c0-4393-9cb7-be076663dff3 g.chr16:87743024G>A uc002fki.2 - 10 1340 c.1294C>T c.(1294-1296)CGC>TGC p.R432C KLHDC4_uc002fkh.1_RNA|KLHDC4_uc010cht.1_Intron|KLHDC4_uc002fkj.2_Missense_Mutation_p.R401C|KLHDC4_uc002fkk.2_Missense_Mutation_p.R251C|KLHDC4_uc002fkl.2_Missense_Mutation_p.R375C|KLHDC4_uc010chu.1_Missense_Mutation_p.R251C NM_017566 NP_060036 Q8TBB5 KLDC4_HUMAN kelch domain containing 4 432 pancreas(2) 2 BRCA - Breast invasive adenocarcinoma(80;0.0283) GCGTTGGAGCGTGGACACGGC 0.682 NaN 0 0 0 0.01441 0 42 137 KDM6B 23135 broad.mit.edu 37 17 7751016 7751016 + Silent SNP A A C TCGA-CF-A3MF-01A-12D-A21A-08 TCGA-CF-A3MF-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c66c92d5-df65-46e6-861d-d8a98808e6a3 d6e91f4c-38c0-4393-9cb7-be076663dff3 g.chr17:7751016A>C uc002giw.1 + 11 1786 c.1410A>C c.(1408-1410)CCA>CCC p.P470P KDM6B_uc002gix.2_5'UTR NM_001080424 NP_001073893 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 470 Pro-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|pancreas(1) 2 caccccctccacccccctgtc 0.333 NaN 0 0 0 0.008291 0 6 11 AXIN2 8313 broad.mit.edu 37 17 63532493 63532493 + Nonsense_Mutation SNP G G A TCGA-CF-A3MF-01A-12D-A21A-08 TCGA-CF-A3MF-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c66c92d5-df65-46e6-861d-d8a98808e6a3 d6e91f4c-38c0-4393-9cb7-be076663dff3 g.chr17:63532493G>A uc002jfi.2 - 8 2375 c.2086C>T c.(2086-2088)CAG>TAG p.Q696* AXIN2_uc002jfh.2_Nonsense_Mutation_p.Q631* NM_004655 NP_004646 Q9Y2T1 AXIN2_HUMAN axin 2 696 Q -> H (in Ref. 2; AAF22799). cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding central_nervous_system(1)|skin(1) 2 TCCTCCAGCTGAGCCAGCGTG 0.667 NaN Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome 0 0 0 0.000602 0 5 73 KRI1 65095 broad.mit.edu 37 19 10664773 10664773 + Missense_Mutation SNP G G A rs147727983 TCGA-CF-A3MF-01A-12D-A21A-08 TCGA-CF-A3MF-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c66c92d5-df65-46e6-861d-d8a98808e6a3 d6e91f4c-38c0-4393-9cb7-be076663dff3 g.chr19:10664773G>A uc002moy.1 - 19 1993 c.1984C>T c.(1984-1986)CGG>TGG p.R662W KRI1_uc002mow.1_Missense_Mutation_p.R281W|KRI1_uc002mox.1_Missense_Mutation_p.R658W NM_023008 NP_075384 Q8N9T8 KRI1_HUMAN KRI1 homolog 662 ovary(1) 1 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) CCCAGCAGCCGTGCCTTCTTG 0.642 NaN 0 0 0 0.01441 0 49 183 GATAD2A 54815 broad.mit.edu 37 19 19606680 19606680 + Missense_Mutation SNP G G A TCGA-CF-A3MF-01A-12D-A21A-08 TCGA-CF-A3MF-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c66c92d5-df65-46e6-861d-d8a98808e6a3 d6e91f4c-38c0-4393-9cb7-be076663dff3 g.chr19:19606680G>A uc010xqt.1 + 6 1054 c.742G>A c.(742-744)GTC>ATC p.V248I GATAD2A_uc010xqu.1_Intron|GATAD2A_uc010xqv.1_Missense_Mutation_p.V267I|GATAD2A_uc010xqw.1_Missense_Mutation_p.V75I NM_017660 NP_060130 Q86YP4 P66A_HUMAN GATA zinc finger domain containing 2A 248 DNA methylation|negative regulation of transcription, DNA-dependent nuclear speck|NuRD complex protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 GCCCCCACTCGTCAGGGGGGC 0.672 NaN 0 0 0 0.012319 0 17 56 FCGBP 8857 broad.mit.edu 37 19 40367841 40367841 + Silent SNP T T G TCGA-CF-A3MF-01A-12D-A21A-08 TCGA-CF-A3MF-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c66c92d5-df65-46e6-861d-d8a98808e6a3 d6e91f4c-38c0-4393-9cb7-be076663dff3 g.chr19:40367841T>G uc002omp.3 - 29 13127 c.13119A>C c.(13117-13119)GCA>GCC p.A4373A NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 4373 TIL 10. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TCGTAAGGGGTGCAGGGGACG 0.627 NaN 0 0 0 0.009535 0 14 41 CDCA7 83879 broad.mit.edu 37 2 174223511 174223511 + Silent SNP G G A rs142079460 TCGA-CF-A3MF-01A-12D-A21A-08 TCGA-CF-A3MF-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c66c92d5-df65-46e6-861d-d8a98808e6a3 d6e91f4c-38c0-4393-9cb7-be076663dff3 g.chr2:174223511G>A uc002uid.1 + 2 224 c.93G>A c.(91-93)TCG>TCA p.S31S CDCA7_uc002uic.1_Silent_p.S31S|CDCA7_uc010zej.1_Silent_p.S31S|CDCA7_uc010zek.1_Intron NM_145810 NP_665809 Q9BWT1 CDCA7_HUMAN cell division cycle associated 7 isoform 2 31 regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.116) TGGAAACCTCGTCATCCTCTG 0.383 NaN 0 0 0 0.012319 0 16 24 ZMYND8 23613 broad.mit.edu 37 20 45853033 45853033 + Missense_Mutation SNP A A G TCGA-CF-A3MF-01A-12D-A21A-08 TCGA-CF-A3MF-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c66c92d5-df65-46e6-861d-d8a98808e6a3 d6e91f4c-38c0-4393-9cb7-be076663dff3 g.chr20:45853033A>G uc002xta.1 - 19 3387 c.3133T>C c.(3133-3135)TAC>CAC p.Y1045H ZMYND8_uc010ghq.1_Missense_Mutation_p.Y676H|ZMYND8_uc010ghr.1_Missense_Mutation_p.Y947H|ZMYND8_uc002xst.1_Missense_Mutation_p.Y927H|ZMYND8_uc002xsu.1_Missense_Mutation_p.Y918H|ZMYND8_uc002xsv.1_Missense_Mutation_p.Y973H|ZMYND8_uc002xsw.1_Missense_Mutation_p.Y751H|ZMYND8_uc002xsx.1_Missense_Mutation_p.Y751H|ZMYND8_uc002xsy.1_Missense_Mutation_p.Y974H|ZMYND8_uc002xsz.1_Missense_Mutation_p.Y936H|ZMYND8_uc010zxy.1_Missense_Mutation_p.Y1072H|ZMYND8_uc002xtb.1_Missense_Mutation_p.Y1019H|ZMYND8_uc002xss.2_Missense_Mutation_p.Y1045H|ZMYND8_uc010zxz.1_Missense_Mutation_p.Y913H|ZMYND8_uc002xtc.1_Missense_Mutation_p.Y1019H|ZMYND8_uc002xtd.1_Missense_Mutation_p.Y994H|ZMYND8_uc002xte.1_Missense_Mutation_p.Y999H|ZMYND8_uc010zya.1_Missense_Mutation_p.Y1045H|ZMYND8_uc002xtf.1_Missense_Mutation_p.Y1065H|ZMYND8_uc002xsr.1_Missense_Mutation_p.Y144H NM_012408 NP_036540 Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 isoform b 1045 MYND-type. protein binding|zinc ion binding central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1) 5 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) TAGTCACAGTAGCTAGTGTTC 0.587 NaN 0 0 0 0.01441 0 50 202 DIDO1 11083 broad.mit.edu 37 20 61525841 61525841 + Silent SNP G G A TCGA-CF-A3MF-01A-12D-A21A-08 TCGA-CF-A3MF-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c66c92d5-df65-46e6-861d-d8a98808e6a3 d6e91f4c-38c0-4393-9cb7-be076663dff3 g.chr20:61525841G>A uc002ydr.1 - 11 2760 c.2496C>T c.(2494-2496)GTC>GTT p.V832V DIDO1_uc002yds.1_Silent_p.V832V|DIDO1_uc002ydt.1_Silent_p.V832V|DIDO1_uc002ydu.1_Silent_p.V832V NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 832 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) TGCTGCTGAAGACGTCGAGAA 0.498 NaN 0 0 0 0.012319 0 18 69 OPRL1 4987 broad.mit.edu 37 20 62730140 62730140 + Silent SNP G G A rs138878509 TCGA-CF-A3MF-01A-12D-A21A-08 TCGA-CF-A3MF-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c66c92d5-df65-46e6-861d-d8a98808e6a3 d6e91f4c-38c0-4393-9cb7-be076663dff3 g.chr20:62730140G>A uc002yic.2 + 5 1503 c.1101G>A c.(1099-1101)CCG>CCA p.P367P OPRL1_uc002yid.2_Silent_p.P367P|OPRL1_uc002yif.3_Silent_p.P362P NM_182647 NP_872588 P41146 OPRX_HUMAN opiate receptor-like 1 367 Cytoplasmic (Potential). elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception integral to plasma membrane protein binding|X-opioid receptor activity central_nervous_system(1)|skin(1) 2 all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08) AGACGGTACCGCGGCCCGCAT 0.657 NaN 0 0 0 0.00499 0 15 76 SMTN 6525 broad.mit.edu 37 22 31500334 31500334 + Missense_Mutation SNP T T A TCGA-CF-A3MF-01A-12D-A21A-08 TCGA-CF-A3MF-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c66c92d5-df65-46e6-861d-d8a98808e6a3 d6e91f4c-38c0-4393-9cb7-be076663dff3 g.chr22:31500334T>A uc003ajl.1 + 20 2854 c.2636T>A c.(2635-2637)GTG>GAG p.V879E SMTN_uc003ajk.1_3'UTR|SMTN_uc003ajm.1_Missense_Mutation_p.V902E|SMTN_uc011ale.1_Missense_Mutation_p.V964E|SMTN_uc011alf.1_3'UTR|SMTN_uc003ajn.1_3'UTR|SMTN_uc011alg.1_3'UTR|SMTN_uc003ajo.1_3'UTR|SMTN_uc010gwe.1_3'UTR|SMTN_uc003ajp.1_RNA NM_006932 NP_008863 P53814 SMTN_HUMAN smoothelin isoform c 879 CH. muscle organ development|smooth muscle contraction actin cytoskeleton|cytoplasm actin binding|structural constituent of muscle large_intestine(2)|pancreas(1) 3 CTGGTGGAGGTGGACGACATG 0.632 NaN 0 0 0 0.01441 0 40 170 SLC5A1 6523 broad.mit.edu 37 22 32498214 32498214 + Missense_Mutation SNP C C T TCGA-CF-A3MF-01A-12D-A21A-08 TCGA-CF-A3MF-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c66c92d5-df65-46e6-861d-d8a98808e6a3 d6e91f4c-38c0-4393-9cb7-be076663dff3 g.chr22:32498214C>T uc003amc.2 + 13 1887 c.1655C>T c.(1654-1656)CCG>CTG p.P552L SLC5A1_uc011alz.1_Missense_Mutation_p.P425L NM_000343 NP_000334 P13866 SC5A1_HUMAN solute carrier family 5 (sodium/glucose 552 Cytoplasmic (Potential). carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding skin(1) 1 AAACCCATTCCGGATGTGCAT 0.378 NaN 0 0 0 0.004007 0 15 165 SEMA5B 54437 broad.mit.edu 37 3 122642517 122642517 + Missense_Mutation SNP C C T TCGA-CF-A3MF-01A-12D-A21A-08 TCGA-CF-A3MF-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c66c92d5-df65-46e6-861d-d8a98808e6a3 d6e91f4c-38c0-4393-9cb7-be076663dff3 g.chr3:122642517C>T uc003efz.1 - 10 1523 c.1219G>A c.(1219-1221)GAG>AAG p.E407K SEMA5B_uc011bju.1_Missense_Mutation_p.E349K|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.E407K|SEMA5B_uc010hro.1_Missense_Mutation_p.E349K|SEMA5B_uc010hrp.1_RNA NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN semaphorin 5B isoform 1 407 Extracellular (Potential).|Sema. cell differentiation|nervous system development integral to membrane receptor activity ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1) 7 GBM - Glioblastoma multiforme(114;0.0367) CTGGGGTTCTCCTGGTAGCGA 0.557 NaN 0 0 0 0.01441 0 57 146 MUC4 4585 broad.mit.edu 37 3 195505772 195505772 + Missense_Mutation SNP C C G TCGA-CF-A3MF-01A-12D-A21A-08 TCGA-CF-A3MF-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c66c92d5-df65-46e6-861d-d8a98808e6a3 d6e91f4c-38c0-4393-9cb7-be076663dff3 g.chr3:195505772C>G uc011bto.1 - 3 12755 c.12295G>C c.(12295-12297)GTC>CTC p.V4099L MUC4_uc003fva.2_5'Flank|MUC4_uc003fvb.2_5'Flank|MUC4_uc003fvc.2_5'Flank|MUC4_uc003fvd.2_5'Flank|MUC4_uc003fve.2_5'Flank|MUC4_uc010hzr.2_5'Flank|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 984 Ser-rich. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) AGGCTGGTGACAGGAAGAGGG 0.582 NaN 0 0 0 0.004482 0 3 35 ZFYVE28 57732 broad.mit.edu 37 4 2341289 2341289 + Missense_Mutation SNP C C A TCGA-CF-A3MF-01A-12D-A21A-08 TCGA-CF-A3MF-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c66c92d5-df65-46e6-861d-d8a98808e6a3 d6e91f4c-38c0-4393-9cb7-be076663dff3 g.chr4:2341289C>A uc003gex.1 - 4 731 c.412G>T c.(412-414)GTG>TTG p.V138L ZFYVE28_uc011bvk.1_Missense_Mutation_p.V68L|ZFYVE28_uc011bvl.1_Missense_Mutation_p.V138L|ZFYVE28_uc003gey.3_Missense_Mutation_p.V68L|ZFYVE28_uc003gez.2_Missense_Mutation_p.V91L|ZFYVE28_uc003gew.1_Missense_Mutation_p.V24L NM_020972 NP_066023 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 138 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding skin(2)|ovary(1) 3 GCGCCCCGCACGTCCTCCAGG 0.667 NaN 1 0 1.55795e-14 0.012319 1.80394e-14 21 9 DEFB131 644414 broad.mit.edu 37 4 9452168 9452168 + Silent SNP T T C TCGA-CF-A3MF-01A-12D-A21A-08 TCGA-CF-A3MF-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c66c92d5-df65-46e6-861d-d8a98808e6a3 d6e91f4c-38c0-4393-9cb7-be076663dff3 g.chr4:9452168T>C uc011bwt.1 + 2 141 c.141T>C c.(139-141)ATT>ATC p.I47I NM_001040448 NP_001035538 P59861 DB131_HUMAN defensin, beta 131 precursor 47 defense response to bacterium extracellular region 0 AACATGCAATTAGATACTGTG 0.373 NaN 0 0 0 0.006214 0 4 24 CDKN1A 1026 broad.mit.edu 37 6 36652024 36652024 + Nonsense_Mutation SNP G G A TCGA-CF-A3MF-01A-12D-A21A-08 TCGA-CF-A3MF-10A-01D-A21A-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx c66c92d5-df65-46e6-861d-d8a98808e6a3 d6e91f4c-38c0-4393-9cb7-be076663dff3 g.chr6:36652024G>A uc003omm.3 + 2 268 c.146G>A c.(145-147)TGG>TAG p.W49* CDKN1A_uc011dtq.1_Nonsense_Mutation_p.W83*|CDKN1A_uc003oml.2_Nonsense_Mutation_p.W49*|CDKN1A_uc003omn.2_Nonsense_Mutation_p.W49* NM_000389 NP_000380 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A 49 cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding ovary(1)|breast(1) 2 CGTGAGCGATGGAACTTCGAC 0.667 NaN Multiple_Endocrine_Neoplasia_type_1 0 0 0 0.01441 0 82 12 MDGA1 266727 broad.mit.edu 37 6 37605212 37605212 + Missense_Mutation SNP C C T TCGA-CF-A3MF-01A-12D-A21A-08 TCGA-CF-A3MF-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c66c92d5-df65-46e6-861d-d8a98808e6a3 d6e91f4c-38c0-4393-9cb7-be076663dff3 g.chr6:37605212C>T uc003onu.1 - 17 3979 c.2800G>A c.(2800-2802)GCC>ACC p.A934T MDGA1_uc003onv.1_3'UTR NM_153487 NP_705691 Q8NFP4 MDGA1_HUMAN MAM domain containing 934 brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2) 2 TGGCAGGGGGCTCCACTGCCC 0.652 NaN 0 0 0 0.009535 0 27 65 MLL3 58508 broad.mit.edu 37 7 151962205 151962205 + Missense_Mutation SNP C C G TCGA-CF-A3MF-01A-12D-A21A-08 TCGA-CF-A3MF-10A-01D-A21A-08 C G C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx c66c92d5-df65-46e6-861d-d8a98808e6a3 d6e91f4c-38c0-4393-9cb7-be076663dff3 g.chr7:151962205C>G uc003wla.2 - 8 1321 c.1102G>C c.(1102-1104)GGA>CGA p.G368R NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 368 PHD-type 1.|RING-type. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) AGGCACATTCCATGATAGTGC 0.443 NaN N medulloblastoma 0 0 0 0.008361 0 25 597 DCAF12 25853 broad.mit.edu 37 9 34107398 34107398 + Missense_Mutation SNP T T C TCGA-CF-A3MF-01A-12D-A21A-08 TCGA-CF-A3MF-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c66c92d5-df65-46e6-861d-d8a98808e6a3 d6e91f4c-38c0-4393-9cb7-be076663dff3 g.chr9:34107398T>C uc003ztt.2 - 3 841 c.499A>G c.(499-501)ATC>GTC p.I167V NM_015397 NP_056212 Q5T6F0 DCA12_HUMAN DDB1 and CUL4 associated factor 12 167 WD 1. centrosome|CUL4 RING ubiquitin ligase complex 0 AGTCGATAGATGGCAAGACTG 0.507 NaN 0 0 0 0.01441 0 48 55 XG 7499 broad.mit.edu 37 X 2729397 2729397 + Missense_Mutation SNP G G A TCGA-CF-A3MF-01A-12D-A21A-08 TCGA-CF-A3MF-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c66c92d5-df65-46e6-861d-d8a98808e6a3 d6e91f4c-38c0-4393-9cb7-be076663dff3 g.chrX:2729397G>A uc011mhg.1 + 9 653 c.430G>A c.(430-432)GTG>ATG p.V144M XG_uc004cqp.2_Missense_Mutation_p.V159M NM_175569 NP_780778 P55808 XG_HUMAN XG glycoprotein isoform 1 precursor 144 Helical; (Potential). integral to membrane|plasma membrane ovary(1) 1 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) AGCAAAAATCGTGTCTCCCAT 0.418 NaN 0 0 0 0.00333 0 18 18 FAM47C 442444 broad.mit.edu 37 X 37028026 37028026 + Missense_Mutation SNP T T C rs141294322 TCGA-CF-A3MF-01A-12D-A21A-08 TCGA-CF-A3MF-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c66c92d5-df65-46e6-861d-d8a98808e6a3 d6e91f4c-38c0-4393-9cb7-be076663dff3 g.chrX:37028026T>C uc004ddl.1 + 1 1557 c.1543T>C c.(1543-1545)TCT>CCT p.S515P NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 515 ovary(3) 3 CCCAGAGCCTTCTGAGACTGG 0.612 NaN 0 0 0 0.009096 0 4 96 ACRC 93953 broad.mit.edu 37 X 70823916 70823916 + Missense_Mutation SNP A A T TCGA-CF-A3MF-01A-12D-A21A-08 TCGA-CF-A3MF-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c66c92d5-df65-46e6-861d-d8a98808e6a3 d6e91f4c-38c0-4393-9cb7-be076663dff3 g.chrX:70823916A>T uc004eae.2 + 8 1290 c.789A>T c.(787-789)GAA>GAT p.E263D BCYRN1_uc011mpt.1_Intron NM_052957 NP_443189 Q96QF7 ACRC_HUMAN ACRC protein 263 Asp/Ser-rich. nucleus ovary(3) 3 Renal(35;0.156) ATGATTCGGAAGCTCCCGACG 0.552 NaN 0 0 0 0.001984 0 6 96 ACRC 93953 broad.mit.edu 37 X 70823918 70823918 + Missense_Mutation SNP C C T TCGA-CF-A3MF-01A-12D-A21A-08 TCGA-CF-A3MF-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c66c92d5-df65-46e6-861d-d8a98808e6a3 d6e91f4c-38c0-4393-9cb7-be076663dff3 g.chrX:70823918C>T uc004eae.2 + 8 1292 c.791C>T c.(790-792)GCT>GTT p.A264V BCYRN1_uc011mpt.1_Intron NM_052957 NP_443189 Q96QF7 ACRC_HUMAN ACRC protein 264 Asp/Ser-rich. nucleus ovary(3) 3 Renal(35;0.156) GATTCGGAAGCTCCCGACGAC 0.557 NaN 0 0 0 0.001984 0 6 96 TAF1C 9013 broad.mit.edu 37 16 84213650 84213651 + Frame_Shift_Ins INS - - G TCGA-CF-A3MF-01A-12D-A21A-08 TCGA-CF-A3MF-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c66c92d5-df65-46e6-861d-d8a98808e6a3 d6e91f4c-38c0-4393-9cb7-be076663dff3 g.chr16:84213650_84213651insG uc002fhn.2 - 13 1828_1829 c.1600_1601insC c.(1600-1602)CAGfs p.Q534fs TAF1C_uc002fhm.2_Frame_Shift_Ins_p.Q440fs|TAF1C_uc010vnx.1_Frame_Shift_Ins_p.Q508fs|TAF1C_uc010vny.1_Frame_Shift_Ins_p.Q125fs|TAF1C_uc010vnz.1_Frame_Shift_Ins_p.Q202fs|TAF1C_uc002fho.2_Frame_Shift_Ins_p.Q57fs|TAF1C_uc010voa.1_Frame_Shift_Ins_p.Q202fs|TAF1C_uc002fhp.1_Intron NM_005679 NP_005670 Q15572 TAF1C_HUMAN TBP-associated factor 1C isoform 1 534 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding ovary(1) 1 AGGAAGAGACTGGGGGGGGCCT 0.663 NaN NaN NaN NaN NaN NaN 7 87 --- --- MYOCD 93649 broad.mit.edu 37 17 12647692 12647694 + In_Frame_Del DEL CAG CAG - TCGA-CF-A3MF-01A-12D-A21A-08 TCGA-CF-A3MF-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c66c92d5-df65-46e6-861d-d8a98808e6a3 d6e91f4c-38c0-4393-9cb7-be076663dff3 g.chr17:12647692_12647694delCAG uc002gnn.2 + 8 1209_1211 c.910_912delCAG c.(910-912)CAGdel p.Q310del MYOCD_uc002gno.2_In_Frame_Del_p.Q310del|MYOCD_uc002gnp.1_In_Frame_Del_p.Q214del|MYOCD_uc002gnq.2_In_Frame_Del_p.Q29del NM_153604 NP_705832 Q8IZQ8 MYCD_HUMAN myocardin isoform 2 310 Gln-rich. cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding central_nervous_system(2)|skin(2)|ovary(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) AATCCTCAGCcagcagcagcagc 0.527 NaN NaN NaN NaN NaN NaN 7 78 --- --- ACPT 93650 broad.mit.edu 37 19 51298106 51298106 + Frame_Shift_Del DEL C C - TCGA-CF-A3MF-01A-12D-A21A-08 TCGA-CF-A3MF-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c66c92d5-df65-46e6-861d-d8a98808e6a3 d6e91f4c-38c0-4393-9cb7-be076663dff3 g.chr19:51298106delC uc002pta.1 + 10 1050 c.1050delC c.(1048-1050)CTCfs p.L350fs NM_033068 NP_149059 Q9BZG2 PPAT_HUMAN testicular acid phosphatase precursor 350 Extracellular (Potential). integral to membrane acid phosphatase activity 0 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) CTCTCAGCCTCCCCGGGTGCC 0.682 NaN NaN NaN NaN NaN NaN 7 828 --- --- ADAMTS2 9509 broad.mit.edu 37 5 178772259 178772260 + In_Frame_Ins INS - - GCA TCGA-CF-A3MF-01A-12D-A21A-08 TCGA-CF-A3MF-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c66c92d5-df65-46e6-861d-d8a98808e6a3 d6e91f4c-38c0-4393-9cb7-be076663dff3 g.chr5:178772259_178772260insGCA uc003mjw.2 - 1 70_71 c.70_71insTGC c.(70-72)CCG>CTGCCG p.23_24insL ADAMTS2_uc011dgm.1_In_Frame_Ins_p.23_24insL NM_014244 NP_055059 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 23_24 collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) gagcggcggcggcagcagcagc 0.584 NaN NaN NaN NaN NaN NaN 7 12 --- --- MAGEC1 9947 broad.mit.edu 37 X 140994844 140994846 + In_Frame_Del DEL CCT CCT - TCGA-CF-A3MF-01A-12D-A21A-08 TCGA-CF-A3MF-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c66c92d5-df65-46e6-861d-d8a98808e6a3 d6e91f4c-38c0-4393-9cb7-be076663dff3 g.chrX:140994844_140994846delCCT uc004fbt.2 + 4 1940_1942 c.1654_1656delCCT c.(1654-1656)CCTdel p.P553del MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 553 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) TCCTCAGAGCCCTCCTCAGGGGG 0.567 NaN HNSCC(15;0.026) NaN NaN NaN NaN NaN 9 442 --- ---