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 CPNE2 221184 broad.mit.edu 37 16 57155597 57155597 + Silent SNP G G A TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr16:57155597G>A ENST00000535318.2 + 10 1153 c.792G>A c.(790-792)gaG>gaA p.E264E CPNE2_ENST00000565874.1_Silent_p.E264E|CPNE2_ENST00000290776.8_Silent_p.E264E|CPNE2_ENST00000537605.1_Silent_p.E162E Q96FN4 CPNE2_HUMAN copine II 264 central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5) 21 all_neural(199;0.224) TGGAGTTCGAGTGCATCAACC 0.527000 21 125 0 0 1 0 0 DTNB 1838 broad.mit.edu 37 2 25705699 25705699 + Missense_Mutation SNP G G A TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr2:25705699G>A ENST00000406818.3 - 10 1294 c.1045C>T c.(1045-1047)Cac>Tac p.H349Y DTNB_ENST00000407661.3_Missense_Mutation_p.H349Y|DTNB_ENST00000407038.3_Missense_Mutation_p.H349Y|DTNB_ENST00000496972.2_Missense_Mutation_p.H292Y|DTNB_ENST00000407186.1_Missense_Mutation_p.H349Y|DTNB_ENST00000288642.8_Missense_Mutation_p.H349Y|DTNB_ENST00000405222.1_Missense_Mutation_p.H349Y|DTNB_ENST00000404103.3_Missense_Mutation_p.H349Y|DTNB_ENST00000545439.1_Missense_Mutation_p.H145Y NM_001256303.1|NM_021907.4 NP_001243232.1|NP_068707.1 O60941 DTNB_HUMAN dystrobrevin, beta 349 cytoplasm calcium ion binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GAGGACATGTGGCTAACCATG 0.483000 3 59 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811099 140811099 + Splice_Site SNP C C T TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr4:140811099C>T ENST00000398940.1 - 1 107 c.108_splice c.e1+1 p.Q36_splice MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 497 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity p.Q497Q(2) breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.542000 5 27 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 3 63 0 0 1 0 0 NRXN3 9369 broad.mit.edu 37 14 79175617 79175617 + Missense_Mutation SNP G G A TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr14:79175617G>A ENST00000554719.1 + 4 651 c.160G>A c.(160-162)Gac>Aac p.D54N NRXN3_ENST00000335750.5_Missense_Mutation_p.D54N|RP11-232C2.2_ENST00000555680.1_RNA NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 0 angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) CCGGATTGCGGACACCAAGAT 0.463000 5 92 0 0 1 0 0 TBX2 6909 broad.mit.edu 37 17 59477559 59477559 + Missense_Mutation SNP G G C TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr17:59477559G>C ENST00000240328.3 + 1 303 c.22G>C c.(22-24)Gcc>Ccc p.A8P RP11-332H18.5_ENST00000585765.1_RNA|RP11-332H18.4_ENST00000592009.1_RNA NM_005994.3 NP_005985.3 Q13207 TBX2_HUMAN T-box 2 8 cell aging|positive regulation of cell proliferation sequence-specific DNA binding endometrium(1)|lung(7)|ovary(1) 9 GGCGCTGGCGGCCAGCGCCAT 0.796000 6 29 0 0 1 0 0 TMEM53 79639 broad.mit.edu 37 1 45120685 45120685 + Missense_Mutation SNP A A T TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr1:45120685A>T ENST00000372237.3 - 3 543 c.380T>A c.(379-381)cTg>cAg p.L127Q TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000476724.1_5'UTR|TMEM53_ENST00000372235.3_Missense_Mutation_p.L97Q|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372242.3_Missense_Mutation_p.L127Q NM_024587.2 NP_078863.2 Q6P2H8 TMM53_HUMAN transmembrane protein 53 127 integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1) 10 Acute lymphoblastic leukemia(166;0.155) ACGGGTCTGCAGGAGCTCCAG 0.612000 OREG0013446 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 59 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39262083 39262083 + Missense_Mutation SNP A A C rs75392608 TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr17:39262083A>C ENST00000391415.1 + 1 500 c.443A>C c.(442-444)aAc>aCc p.N148T NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 148 29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP]. keratin filament central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 tgccagcccaactgctgccgc 0.667000 4 17 0 0 1 0 0 PPAN-P2RY11 692312 broad.mit.edu 37 19 10220329 10220329 + Missense_Mutation SNP G G A TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr19:10220329G>A ENST00000428358.1 + 6 708 c.536G>A c.(535-537)cGc>cAc p.R179H PPAN_ENST00000393793.1_Missense_Mutation_p.R126H|PPAN_ENST00000253107.7_Missense_Mutation_p.R179H|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.R179H|PPAN_ENST00000556468.1_Missense_Mutation_p.R179H NM_001040664.2|NM_001198690.1 NP_001035754.1|NP_001185619.1 Q9NQ55 SSF1_HUMAN 179 Brix. RNA splicing nucleolus protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 31 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) ACCATCAAGCGCTGCCTCCTC 0.597000 5 328 0 0 1 0 0 IL18RAP 8807 broad.mit.edu 37 2 103040356 103040356 + Missense_Mutation SNP G G T TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr2:103040356G>T ENST00000264260.2 + 4 745 c.156G>T c.(154-156)caG>caT p.Q52H IL18RAP_ENST00000409369.1_Intron NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 52 cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 CAGAGCCACAGAAATCACATT 0.408000 7 53 5.18039e-06 5.56892e-06 1 1 0 EFCAB6 64800 broad.mit.edu 37 22 44083357 44083357 + Missense_Mutation SNP C C T TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr22:44083357C>T ENST00000262726.7 - 11 1389 c.1136G>A c.(1135-1137)aGa>aAa p.R379K EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227K NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 379 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) ATACCTATTTCTTTTTGTCAG 0.308000 13 42 0 0 1 0 0 NAALADL1 10004 broad.mit.edu 37 11 64822094 64822094 + Silent SNP G G T TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr11:64822094G>T ENST00000358658.3 - 5 747 c.720C>A c.(718-720)ccC>ccA p.P240P NAALADL1_ENST00000355369.2_Silent_p.P240P|NAALADL1_ENST00000339885.2_Silent_p.P240P|NAALADL1_ENST00000355721.3_Silent_p.P199P|NAALADL1_ENST00000340252.4_Silent_p.P240P|NAALADL1_ENST00000356632.3_Silent_p.P240P NM_005468.2 NP_005459.2 Q9UQQ1 NALDL_HUMAN N-acetylated alpha-linked acidic dipeptidase-like 1 240 proteolysis apical plasma membrane|integral to membrane carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 29 CTCCTGAGGGGGGCAGGTACC 0.612000 OREG0032001 type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET) 3 13 0.004672 0.004672 1 1 0 DNAJC5G 285126 broad.mit.edu 37 2 27500634 27500634 + Missense_Mutation SNP G G T TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr2:27500634G>T ENST00000296097.3 + 4 544 c.126G>T c.(124-126)ttG>ttT p.L42F DNAJC5G_ENST00000404433.1_Intron|DNAJC5G_ENST00000406962.1_Intron|DNAJC5G_ENST00000402462.1_Missense_Mutation_p.L42F NM_173650.1 NP_775921.1 Q8N7S2 DNJ5G_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 gamma 42 J. protein folding membrane heat shock protein binding|unfolded protein binding cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATTCCGCATTGCTTCCCCACC 0.488000 26 106 6.04164e-23 6.8366e-23 1 1 0 MEF2A 4205 broad.mit.edu 37 15 100211551 100211551 + Missense_Mutation SNP T T A rs1135555 TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr15:100211551T>A ENST00000338042.6 + 4 601 c.282T>A c.(280-282)aaT>aaA p.N94K MEF2A_ENST00000449277.2_Missense_Mutation_p.N26K|MEF2A_ENST00000558812.1_Missense_Mutation_p.N26K|MEF2A_ENST00000557942.1_Missense_Mutation_p.N94K|MEF2A_ENST00000354410.5_Intron|MEF2A_ENST00000557785.1_Missense_Mutation_p.N94K|MEF2A_ENST00000453228.2_Missense_Mutation_p.N94K Q02078 MEF2A_HUMAN myocyte enhancer factor 2A 94 apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development nuclear chromatin|nucleoplasm activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding endometrium(2)|large_intestine(2)|lung(7)|ovary(1) 12 Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00085) AAGGCCTTAATGGTTGTGAGA 0.353000 32 122 0 0 1 0 0 FRK 2444 broad.mit.edu 37 6 116265543 116265543 + Missense_Mutation SNP G G A TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr6:116265543G>A ENST00000606080.1 - 6 1450 c.1004C>T c.(1003-1005)gCg>gTg p.A335V FRK_ENST00000538210.1_Missense_Mutation_p.A193V NM_002031.2 NP_002022.1 P42685 FRK_HUMAN fyn-related kinase 335 Protein kinase. negative regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1) 27 all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465) all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625) AACCTGTGCCGCCATGTCTAC 0.418000 4 81 0 0 1 0 0 ZSWIM4 65249 broad.mit.edu 37 19 13910696 13910696 + Missense_Mutation SNP C C G TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr19:13910696C>G ENST00000254323.2 + 2 505 c.316C>G c.(316-318)Ctg>Gtg p.L106V NM_023072.2 NP_075560.2 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 106 zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) CGGGCTGCACCTGCTCCAGAG 0.642000 5 52 0 0 1 0 0 GOLGA8IP 283796 broad.mit.edu 37 15 23261044 23261044 + Missense_Mutation SNP A A C TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr15:23261044A>C ENST00000450802.3 + 10 817 c.719A>C c.(718-720)gAa>gCa p.E240A GAAAGACATGAATATGCTGAA 0.507000 4 143 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21329485 21329485 + Missense_Mutation SNP G G A rs150204820 by1000genomes TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr18:21329485G>A ENST00000313654.9 + 4 900 c.659G>A c.(658-660)cGt>cAt p.R220H LAMA3_ENST00000399516.3_Missense_Mutation_p.R220H NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 220 Laminin N-terminal. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity p.R220H(1) NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GAATATTCCCGTATTGTACCT 0.393000 7 37 0 0 1 0 0 CDK19 23097 broad.mit.edu 37 6 110942543 110942543 + Nonsense_Mutation SNP G G A TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr6:110942543G>A ENST00000368911.3 - 12 1320 c.1141C>T c.(1141-1143)Cag>Tag p.Q381* CDK19_ENST00000323817.3_Nonsense_Mutation_p.Q321*|CDK19_ENST00000413605.2_Nonsense_Mutation_p.Q257* NM_015076.3 NP_055891.1 Q9BWU1 CDK19_HUMAN cyclin-dependent kinase 19 381 Gln-rich. ATP binding|cyclin-dependent protein kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1) 22 GCTGTGGGCTGCTGATGCTGG 0.542000 15 205 0 0 1 0 0 SLC26A3 1811 broad.mit.edu 37 7 107432375 107432375 + Missense_Mutation SNP A A T TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr7:107432375A>T ENST00000340010.5 - 4 466 c.282T>A c.(280-282)ttT>ttA p.F94L SLC26A3_ENST00000422236.2_Missense_Mutation_p.F59L NM_000111.2 NP_000102.1 P40879 S26A3_HUMAN solute carrier family 26 (anion exchanger), member 3 94 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 CCAGCAGAGCAAATGCTAAAC 0.443000 7 54 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29625891 29625891 + Silent SNP C C G TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr20:29625891C>G ENST00000278882.3 + 5 515 c.135C>G c.(133-135)ggC>ggG p.G45G FRG1B_ENST00000439954.2_Silent_p.G50G|FRG1B_ENST00000358464.4_Silent_p.G45G endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TGAAATCTGGCTATGGAAAAT 0.343000 4 122 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414379 20414379 + Silent SNP G G A TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr9:20414379G>A ENST00000380338.4 - 5 751 c.465C>T c.(463-465)agC>agT p.S155S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 155 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S155S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.532000 T MLL ALL 4 62 0 0 1 0 0 C9orf84 158401 broad.mit.edu 37 9 114484733 114484733 + Missense_Mutation SNP A A G TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr9:114484733A>G ENST00000394779.3 - 11 2022 c.1778T>C c.(1777-1779)cTc>cCc p.L593P C9orf84_ENST00000394777.4_Missense_Mutation_p.L593P|C9orf84_ENST00000374287.3_Missense_Mutation_p.L632P|C9orf84_ENST00000318737.4_Missense_Mutation_p.L632P NM_001080551.1 NP_001074020.1 Q5VXU9 CI084_HUMAN chromosome 9 open reading frame 84 632 breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 TTCCTTTAAGAGAAACCTTGT 0.348000 20 75 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414295 20414295 + Silent SNP G G A rs62637688 TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr9:20414295G>A ENST00000380338.4 - 5 835 c.549C>T c.(547-549)agC>agT p.S183S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S180S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 183 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.522000 T MLL ALL 4 98 0 0 1 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232600987 232600987 + Missense_Mutation SNP C C G TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr1:232600987C>G ENST00000366630.1 - 8 2777 c.2419G>C c.(2419-2421)Gag>Cag p.E807Q SIPA1L2_ENST00000262861.4_Missense_Mutation_p.E807Q Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 807 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) TTCAAGTACTCCTGCCTCGTT 0.478000 6 167 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 3 64 0 0 1 0 0 ZEB2 9839 broad.mit.edu 37 2 145157124 145157124 + Missense_Mutation SNP T T C TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr2:145157124T>C ENST00000558170.2 - 8 2814 c.1630A>G c.(1630-1632)Act>Gct p.T544A ZEB2_ENST00000303660.4_Missense_Mutation_p.T544A|ZEB2_ENST00000409487.3_Missense_Mutation_p.T544A|ZEB2_ENST00000539609.3_Missense_Mutation_p.T520A NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 544 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) GAGTCAGTAGTCAAGCTCTGG 0.388000 17 85 0 0 1 0 0 GAK 2580 broad.mit.edu 37 4 843541 843541 + Nonsense_Mutation SNP G G A TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr4:843541G>A ENST00000314167.4 - 28 3966 c.3856C>T c.(3856-3858)Cag>Tag p.Q1286* GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Nonsense_Mutation_p.Q1207* NM_005255.2 NP_005246.2 O14976 GAK_HUMAN cyclin G associated kinase 1286 J. cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2) 39 Colorectal(103;0.219) TTGGCGTGCTGCTCGTACGGC 0.677000 4 45 0 0 1 0 0 CHRM3 1131 broad.mit.edu 37 1 240072244 240072244 + Missense_Mutation SNP T T G TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr1:240072244T>G ENST00000255380.4 + 5 2272 c.1493T>G c.(1492-1494)cTt>cGt p.L498R NM_000740.2 NP_000731.1 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 498 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) GCGATCTTGCTTGCCTTCATC 0.493000 34 80 0 0 1 0 0 SLC1A3 6507 broad.mit.edu 37 5 36629602 36629602 + Missense_Mutation SNP G G T TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr5:36629602G>T ENST00000265113.4 + 3 708 c.232G>T c.(232-234)Gtc>Ttc p.V78F SLC1A3_ENST00000381918.3_Missense_Mutation_p.V78F NM_004172.4 NP_004163.3 P43003 EAA1_HUMAN solute carrier family 1 (glial high affinity glutamate transporter), member 3 78 D-aspartate import|L-glutamate import|neurotransmitter uptake integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1) 41 all_lung(31;0.000245) Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) L-Glutamic Acid(DB00142) CTACCGGGAAGTCAAGTACTT 0.398000 13 117 4.3838e-07 4.83342e-07 1 1 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 5 40 0 0 1 0 0 NAGK 55577 broad.mit.edu 37 2 71305538 71305538 + Missense_Mutation SNP C C T TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr2:71305538C>T ENST00000418807.3 + 9 946 c.782C>T c.(781-783)gCt>gTt p.A261V NAGK_ENST00000244204.5_Missense_Mutation_p.A312V|NAGK_ENST00000455662.2_Missense_Mutation_p.A358V Q9UJ70 NAGK_HUMAN N-acetylglucosamine kinase 312 N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process ATP binding|N-acetylglucosamine kinase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1) 18 N-Acetyl-D-glucosamine(DB00141) CACTCCTCCGCTCTGGGTGGG 0.582000 5 29 0 0 1 0 0 NAGK 55577 broad.mit.edu 37 2 71305537 71305537 + Missense_Mutation SNP G G T TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr2:71305537G>T ENST00000418807.3 + 9 945 c.781G>T c.(781-783)Gct>Tct p.A261S NAGK_ENST00000244204.5_Missense_Mutation_p.A312S|NAGK_ENST00000455662.2_Missense_Mutation_p.A358S Q9UJ70 NAGK_HUMAN N-acetylglucosamine kinase 312 N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process ATP binding|N-acetylglucosamine kinase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1) 18 N-Acetyl-D-glucosamine(DB00141) GCACTCCTCCGCTCTGGGTGG 0.582000 6 28 0.00198382 0.00203105 1 1 0 AC027612.3 0 broad.mit.edu 37 2 91887905 91887906 + RNA INS - - T TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr2:91887905_91887906insT ENST00000436174.1 - 0 540 GCTATTTTCCATTTTTTTTTTT 0.292 8 28 --- --- --- --- MUC3A 4584 broad.mit.edu 37 7 100606304 100606304 + Frame_Shift_Del DEL G G - TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr7:100606304delG ENST00000319509.7 + 3 1820 c.1820delG c.(1819-1821)tgfs p.W607fs mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 AAGACCTTCTGGAATCAGGTA 0.483 2 4 --- --- --- --- SSPO 23145 broad.mit.edu 37 7 149505750 149505751 + RNA DEL CT CT - TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr7:149505750_149505751delCT ENST00000378016.2 + 0 9121 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CAGGTGAGAGCTGGGACTGAGG 0.594 2 4 --- --- --- ---