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 DCUN1D4 23142 broad.mit.edu 37 4 52740525 52740525 + Silent SNP A A G rs146614901 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr4:52740525A>G ENST00000334635.5 + 4 405 c.225A>G c.(223-225)ttA>ttG p.L75L DCUN1D4_ENST00000451288.2_Silent_p.L119L|DCUN1D4_ENST00000513800.1_3'UTR|DCUN1D4_ENST00000381437.4_Silent_p.L15L|DCUN1D4_ENST00000381441.3_Silent_p.L75L NM_001040402.1 NP_001035492.1 Q92564 DCNL4_HUMAN DCN1, defective in cullin neddylation 1, domain containing 4 75 endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1) 9 GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654) GAGATGATTTATCTGCCAAGA 0.393000 6 73 0 0 0.047766 0 0 SEC23IP 11196 broad.mit.edu 37 10 121658365 121658365 + Missense_Mutation SNP C C T rs145784334 by1000genomes TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr10:121658365C>T ENST00000369075.3 + 2 662 c.590C>T c.(589-591)gCa>gTa p.A197V SEC23IP_ENST00000543134.1_Intron NM_007190.3 NP_009121.1 Q9Y6Y8 S23IP_HUMAN SEC23 interacting protein 197 Interaction with SEC23A.|Pro-rich. Golgi organization|intracellular protein transport endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment metal ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 36 Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234) all cancers(201;0.00515) CCTTACATTGCACCACCCCAG 0.547000 36 105 0 0 0.064281 0 0 PRAME 23532 broad.mit.edu 37 22 22890729 22890729 + Silent SNP G G T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr22:22890729G>T ENST00000543184.1 - 5 2152 c.1290C>A c.(1288-1290)ctC>ctA p.L430L PRAME_ENST00000539862.1_Silent_p.L414L|PRAME_ENST00000398741.1_Silent_p.L430L|PRAME_ENST00000398743.2_Silent_p.L430L|PRAME_ENST00000405655.3_Silent_p.L430L|PRAME_ENST00000424204.2_Silent_p.L414L|PRAME_ENST00000402697.1_Silent_p.L430L NM_206953.1 NP_996836.1 P78395 PRAME_HUMAN preferentially expressed antigen in melanoma 430 Mediates interaction with RARA. apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) TCAGCCCGATGAGGTGCTGCA 0.562000 14 41 7.93312e-07 1.01654e-06 0.119110 1 0 ROBO2 6092 broad.mit.edu 37 3 77147176 77147176 + Missense_Mutation SNP C C A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr3:77147176C>A ENST00000461745.1 + 2 973 c.73C>A c.(73-75)Cgc>Agc p.R25S ROBO2_ENST00000332191.8_Missense_Mutation_p.R25S|ROBO2_ENST00000487694.3_Missense_Mutation_p.R41S NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 25 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) ATCGCGTCTTCGCCAGGAGGA 0.522000 4 4 1.23904e-05 1.5031e-05 0.014758 1 0 POM121L9P 29774 broad.mit.edu 37 22 24659512 24659512 + RNA SNP A A G TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr22:24659512A>G ENST00000414583.2 + 0 3037 NR_003714.1 TGCCTGGGCCATGGAGCACTC 0.473000 4 13 0 0 0.009096 0 0 MMP8 4317 broad.mit.edu 37 11 102584511 102584511 + Missense_Mutation SNP T T G TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr11:102584511T>G ENST00000236826.3 - 9 1366 c.1268A>C c.(1267-1269)aAa>aCa p.K423T NM_002424.2 NP_002415.1 P22894 MMP8_HUMAN matrix metallopeptidase 8 (neutrophil collagenase) 423 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1) 32 all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189) BRCA - Breast invasive adenocarcinoma(274;0.0141) TGCATCAACTTTACTCTCTAT 0.358000 12 56 0 0 0.146539 0 0 C11orf74 119710 broad.mit.edu 37 11 36680708 36680708 + Missense_Mutation SNP G G T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr11:36680708G>T ENST00000334307.5 + 6 753 c.638G>T c.(637-639)aGc>aTc p.S213I C11orf74_ENST00000347206.4_Missense_Mutation_p.S139I|C11orf74_ENST00000534635.1_Missense_Mutation_p.S139I|C11orf74_ENST00000446510.2_Intron NM_138787.2 NP_620142.2 Q86VG3 CK074_HUMAN chromosome 11 open reading frame 74 213 breast(1)|kidney(1)|large_intestine(1)|lung(5) 8 all_lung(20;0.226) all_hematologic(20;0.0118) AAGGACACCAGCCCAGACTTA 0.378000 7 71 0.00307968 0.00338879 0.038147 1 0 AIFM1 9131 broad.mit.edu 37 X 129264138 129264138 + Missense_Mutation SNP G G T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chrX:129264138G>T ENST00000287295.3 - 15 1807 c.1577C>A c.(1576-1578)aCt>aAt p.T526N AIFM1_ENST00000319908.3_Missense_Mutation_p.T522N|AIFM1_ENST00000440263.1_Missense_Mutation_p.T174N|AIFM1_ENST00000346424.2_Missense_Mutation_p.T239N|AIFM1_ENST00000460436.2_Missense_Mutation_p.T187N|AIFM1_ENST00000535724.1_3'UTR NM_001130847.3|NM_004208.3 NP_001124319.1|NP_004199.1 O95831 AIFM1_HUMAN apoptosis-inducing factor, mitochondrion-associated, 1 526 activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1) 30 TCGGATACCAGTTCCTGTGGC 0.502000 13 128 7.93312e-07 1.01654e-06 0.119110 1 0 CSMD1 64478 broad.mit.edu 37 8 2830776 2830776 + Missense_Mutation SNP C C T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr8:2830776C>T ENST00000520002.1 - 58 9344 c.8789G>A c.(8788-8790)gGg>gAg p.G2930E CSMD1_ENST00000602723.1_Missense_Mutation_p.G2872E|CSMD1_ENST00000602557.1_Missense_Mutation_p.G2930E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2872E|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2871E|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2929E Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2930 Sushi 22. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AAGCCGAGACCCATGTGCTGG 0.493000 39 66 0 0 0.124865 0 0 CRLF2 64109 broad.mit.edu 37 X 1321326 1321326 + Nonsense_Mutation SNP G G C TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chrX:1321326G>C ENST00000381567.3 - 4 428 c.429C>G c.(427-429)taC>taG p.Y143* CRLF2_ENST00000467626.1_5'UTR|CRLF2_ENST00000381566.1_Nonsense_Mutation_p.Y143* NM_022148.2 NP_071431.2 Q9HC73 CRLF2_HUMAN cytokine receptor-like factor 2 143 Fibronectin type-III. extracellular region|integral to membrane|plasma membrane receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9) 20 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) GGAGATCCCCGTAGGACAGGT 0.592000 """Mis, T""" """P2RY8, IGH@""" """B-ALL, Downs associated ALL""" 18 62 0 0 0.049695 0 0 PHF3 23469 broad.mit.edu 37 6 64408494 64408494 + Splice_Site SNP A A G TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr6:64408494A>G ENST00000262043.3 + 8 3321 c.2982_splice c.e8+1 p.N994_splice PHF3_ENST00000393387.1_Splice_Site_p.N994_splice Q92576 PHF3_HUMAN PHD finger protein 3 994 TFIIS central. multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) CCTAAAAACAATGTAAGTATG 0.284000 14 25 0 0 0.132662 0 0 CCR1 1230 broad.mit.edu 37 3 46245043 46245043 + Silent SNP G G T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr3:46245043G>T ENST00000296140.3 - 2 887 c.762C>A c.(760-762)ccC>ccA p.P254P CCR3_ENST00000357422.2_Intron NM_001295.2 NP_001286.1 P32246 CCR1_HUMAN chemokine (C-C motif) receptor 1 254 cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response integral to plasma membrane C-C chemokine receptor activity autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3) 17 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) TCAAATTGTAGGGGGTCCAAA 0.413000 21 64 4.35082e-09 6.28215e-09 0.055883 1 0 BAGE2 85319 broad.mit.edu 37 21 11039233 11039233 + RNA SNP C C A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr21:11039233C>A ENST00000470054.1 - 0 970 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CTTTGGATACCACTGTTTTAG 0.403000 13 249 9.31168e-06 1.14368e-05 0.105934 1 0 URB2 9816 broad.mit.edu 37 1 229772543 229772543 + Missense_Mutation SNP G G T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr1:229772543G>T ENST00000258243.2 + 4 2319 c.2183G>T c.(2182-2184)gGg>gTg p.G728V NM_014777.2 NP_055592.2 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog (S. cerevisiae) 728 nucleolus breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6) 73 GGCCAAGTTGGGATGGTGAGT 0.468000 16 105 4.7546e-09 6.79885e-09 0.146539 1 0 CMC4 100272147 broad.mit.edu 37 X 154292295 154292295 + Missense_Mutation SNP G G T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chrX:154292295G>T ENST00000369484.3 - 2 682 c.4C>A c.(4-6)Ccg>Acg p.P2T CMC4_ENST00000369479.1_Missense_Mutation_p.P2T NM_001018024.2 NP_001018024.1 C-x(9)-C motif containing 4 TCCTTCTGCGGCATATCCAGA 0.338000 5 96 0.014758 0.015885 0.014758 1 0 KCNA4 3739 broad.mit.edu 37 11 30033380 30033380 + Missense_Mutation SNP C C G TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr11:30033380C>G ENST00000328224.6 - 2 2079 c.846G>C c.(844-846)agG>agC p.R282S NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 282 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity p.R282R(1) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 CGGGGAGGGCCCTGTCTTCCT 0.512000 20 130 0 0 0.049695 0 0 PCDH11X 27328 broad.mit.edu 37 X 91642767 91642767 + Missense_Mutation SNP G G T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chrX:91642767G>T ENST00000373094.1 + 5 4023 c.3178G>T c.(3178-3180)Ggc>Tgc p.G1060C PCDH11X_ENST00000373097.1_Missense_Mutation_p.G1050C|PCDH11X_ENST00000361655.2_Missense_Mutation_p.G1050C|PCDH11X_ENST00000298274.8_Missense_Mutation_p.G1023C|PCDH11X_ENST00000373088.1_Missense_Mutation_p.G1023C|PCDH11X_ENST00000406881.1_Missense_Mutation_p.G1060C|PCDH11X_ENST00000504220.1_Intron NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 1060 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 CCTGCCAGAAGGCTCTCAGGA 0.498000 19 42 4.96729e-08 6.71378e-08 0.049695 1 0 FOXP2 93986 broad.mit.edu 37 7 114282499 114282499 + Missense_Mutation SNP G G T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr7:114282499G>T ENST00000393500.3 + 13 1405 c.585G>T c.(583-585)tgG>tgT p.W195C FOXP2_ENST00000378237.3_Missense_Mutation_p.W270C|FOXP2_ENST00000393494.2_Missense_Mutation_p.W270C|FOXP2_ENST00000360232.4_Missense_Mutation_p.W270C|FOXP2_ENST00000350908.4_Missense_Mutation_p.W270C|FOXP2_ENST00000408937.3_Missense_Mutation_p.W295C|FOXP2_ENST00000403559.4_Missense_Mutation_p.W287C|FOXP2_ENST00000390668.3_Missense_Mutation_p.W294C|FOXP2_ENST00000393498.2_Missense_Mutation_p.W249C|FOXP2_ENST00000393489.3_Missense_Mutation_p.W178C|FOXP2_ENST00000393491.3_Missense_Mutation_p.W178C O15409 FOXP2_HUMAN forkhead box P2 270 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 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 AGCAGTTATGGAAAGAAGTGA 0.403000 15 52 2.31682e-05 2.78772e-05 0.132662 1 0 MYCBPAP 84073 broad.mit.edu 37 17 48586035 48586035 + Silent SNP C C T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr17:48586035C>T ENST00000323776.5 + 1 291 c.129C>T c.(127-129)acC>acT p.T43T MYCBPAP_ENST00000419930.1_Silent_p.T43T|MYCBPAP_ENST00000436259.2_Silent_p.T6T NM_032133.4 NP_115509.4 Q8TBZ2 MYBPP_HUMAN MYCBP associated protein 6 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2) 31 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) CGGGCGGCACCATGAAGTCTC 0.627000 8 11 0 0 0.038147 0 0 AE000661.37 0 broad.mit.edu 37 14 22891771 22891771 + RNA SNP A A G TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr14:22891771A>G ENST00000514473.2 - 0 225 AE000661.37_ENST00000545670.1_RNA|AE000661.37_ENST00000535351.1_RNA|TRDV2_ENST00000390469.2_RNA|AE000661.37_ENST00000537850.1_RNA|AE000661.37_ENST00000541008.1_RNA CCTGAACACCAAACAGTGCCT 0.522000 41 86 0 0 0.098360 0 0 NLGN4X 57502 broad.mit.edu 37 X 5821878 5821878 + Missense_Mutation SNP C C A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chrX:5821878C>A ENST00000381095.3 - 5 1468 c.841G>T c.(841-843)Ggc>Tgc p.G281C NLGN4X_ENST00000381093.2_Missense_Mutation_p.G301C|NLGN4X_ENST00000381092.1_Missense_Mutation_p.G281C|NLGN4X_ENST00000538097.1_Missense_Mutation_p.G281C|NLGN4X_ENST00000275857.6_Missense_Mutation_p.G281C NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 281 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 AGGGCGGTGCCGCTCTGAATG 0.532000 5 40 0.00307968 0.00338879 0.038147 1 0 GLI3 2737 broad.mit.edu 37 7 42005508 42005508 + Missense_Mutation SNP C C A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr7:42005508C>A ENST00000395925.3 - 15 3247 c.3163G>T c.(3163-3165)Ggc>Tgc p.G1055C GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 1055 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 CGGGACTGGCCGCCCTCGGGC 0.652000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 13 22 4.36969e-10 6.40311e-10 0.105934 1 0 PTCHD2 57540 broad.mit.edu 37 1 11585275 11585275 + Missense_Mutation SNP G G T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr1:11585275G>T ENST00000294484.6 + 12 2657 c.2519G>T c.(2518-2520)gGc>gTc p.G840V PTCHD2_ENST00000389575.3_Missense_Mutation_p.G840V NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 840 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) AAGAGTCAAGGCCACCCCGCT 0.577000 9 28 1.76689e-08 2.46698e-08 0.058154 1 0 UPF1 5976 broad.mit.edu 37 19 18971211 18971211 + Missense_Mutation SNP A A T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr19:18971211A>T ENST00000262803.5 + 16 2536 c.2264A>T c.(2263-2265)gAg>gTg p.E755V UPF1_ENST00000599848.1_Missense_Mutation_p.E766V NM_002911.3 NP_002902.2 Q92900 RENT1_HUMAN UPF1 regulator of nonsense transcripts homolog (yeast) 766 cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 CAGGGCCAAGAGGAGATTGCC 0.587000 14 32 0 0 0.132662 0 0 SIRT2 22933 broad.mit.edu 37 19 39372103 39372103 + Missense_Mutation SNP C C A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr19:39372103C>A ENST00000249396.7 - 10 961 c.660G>T c.(658-660)aaG>aaT p.K220N SIRT2_ENST00000358931.5_Missense_Mutation_p.K220N|SIRT2_ENST00000392081.2_Missense_Mutation_p.K183N NM_012237.3 NP_036369.2 Q8IXJ6 SIRT2_HUMAN sirtuin 2 220 Deacetylase sirtuin-type. cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state chromatin silencing complex|cytoplasm|microtubule histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding endometrium(1)|large_intestine(2)|lung(5)|skin(1) 9 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191) AGTCTTCACACTTGGGCGTCA 0.617000 15 26 2.62699e-14 4.02896e-14 0.132662 1 0 PRUNE2 158471 broad.mit.edu 37 9 79322001 79322001 + Missense_Mutation SNP G G T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr9:79322001G>T ENST00000428286.1 - 8 5312 c.4112C>A c.(4111-4113)gCt>gAt p.A1371D PRUNE2_ENST00000376718.3_Missense_Mutation_p.A1730D Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 1730 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CTTAGGATCAGCTGTGACCAA 0.428000 16 44 1.02788e-11 1.54443e-11 0.033300 1 0 SEMA6C 10500 broad.mit.edu 37 1 151107786 151107786 + Splice_Site SNP C C A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr1:151107786C>A ENST00000341697.3 - 15 3125 c.e15-1 Q9H3T2 SEM6C_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C integral to membrane receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 28 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CCCACTGCACCTAGGGTGAGG 0.547000 22 45 1.37657e-19 2.23881e-19 0.062417 1 0 MCM10 55388 broad.mit.edu 37 10 13237238 13237238 + Missense_Mutation SNP C C A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr10:13237238C>A ENST00000378694.1 + 13 2018 c.1943C>A c.(1942-1944)cCa>cAa p.P648Q MCM10_ENST00000484800.2_Missense_Mutation_p.P649Q|MCM10_ENST00000378714.3_Missense_Mutation_p.P648Q Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 649 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm metal ion binding|protein binding central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1) 9 CCACCAAGACCAAAACTGAGT 0.502000 3 34 0.004672 0.005103 0.115264 1 0 LRRC4C 57689 broad.mit.edu 37 11 40136613 40136613 + Silent SNP C C A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr11:40136613C>A ENST00000278198.2 - 2 3193 c.1230G>T c.(1228-1230)acG>acT p.T410T LRRC4C_ENST00000530763.1_Silent_p.T410T|LRRC4C_ENST00000527150.1_Silent_p.T410T|LRRC4C_ENST00000528697.1_Silent_p.T410T Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 410 Ig-like C2-type. regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) TGAAATTTAACGTACCATCAC 0.443000 20 140 5.03518e-11 7.45207e-11 0.043863 1 0 AFF2 2334 broad.mit.edu 37 X 147743992 147743992 + Silent SNP G G A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chrX:147743992G>A ENST00000370460.2 + 3 1223 c.744G>A c.(742-744)gcG>gcA p.A248A AFF2_ENST00000342251.3_Silent_p.A244A|AFF2_ENST00000370457.5_Silent_p.A244A|AFF2_ENST00000370458.1_Silent_p.A244A NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 248 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) CCGTGCAAGCGCCTGGGTCTC 0.473000 20 357 0 0 0.091800 0 0 RANBP2 5903 broad.mit.edu 37 2 109380884 109380884 + Nonsense_Mutation SNP A A T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr2:109380884A>T ENST00000283195.6 + 20 4015 c.3889A>T c.(3889-3891)Aag>Tag p.K1297* NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 1297 RanBD1 1. carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 TTTTAAATGCAAGTTTGAAGA 0.413000 22 48 0 0 0.069288 0 0 MTTP 4547 broad.mit.edu 37 4 100532328 100532328 + Missense_Mutation SNP A A G TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr4:100532328A>G ENST00000457717.1 + 14 2054 c.1798A>G c.(1798-1800)Atg>Gtg p.M600V MTTP_ENST00000265517.5_Missense_Mutation_p.M600V|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Missense_Mutation_p.M627V NM_000253.2 NP_000244.2 P55157 MTP_HUMAN microsomal triglyceride transfer protein 600 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) TCTGAAGGAAATGGTCGCTCA 0.408000 14 53 0 0 0.132662 0 0 AHNAK2 113146 broad.mit.edu 37 14 105418309 105418309 + Missense_Mutation SNP T T A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr14:105418309T>A ENST00000333244.5 - 7 3598 c.3479A>T c.(3478-3480)gAc>gTc p.D1160V AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1160 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GAACCTGCTGTCTTTGGCAGT 0.627000 17 39 0 0 0.069288 0 0 WASH3P 374666 broad.mit.edu 37 15 102516473 102516473 + RNA SNP G G A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr15:102516473G>A ENST00000557932.1 + 0 1421 central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 ATCCTAGGGGGCTCCATGACA 0.642000 3 13 0 0 0.009096 0 0 ZNF382 84911 broad.mit.edu 37 19 37117340 37117340 + Missense_Mutation SNP C C T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr19:37117340C>T ENST00000435416.1 + 3 2033 c.538C>T c.(538-540)Cct>Tct p.P180S ZNF382_ENST00000423582.1_Missense_Mutation_p.P132S|ZNF382_ENST00000439428.1_Missense_Mutation_p.P180S|ZNF382_ENST00000292928.2_Missense_Mutation_p.P181S Q96SR6 ZN382_HUMAN zinc finger protein 382 181 Represses transcription (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 34 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) GAAAATTCATCCTGCAGTGAA 0.403000 27 80 0 0 0.108266 0 0 SH3TC1 54436 broad.mit.edu 37 4 8217932 8217932 + Missense_Mutation SNP T T A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr4:8217932T>A ENST00000539824.1 + 6 722 c.348T>A c.(346-348)caT>caA p.H116Q SH3TC1_ENST00000245105.3_Missense_Mutation_p.H192Q Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 192 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 TCCAAGTCCATGTGGATGAGA 0.597000 5 17 0 0 0.029380 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24909728 24909728 + Missense_Mutation SNP C C T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr10:24909728C>T ENST00000396432.2 - 9 1582 c.1096G>A c.(1096-1098)Gtg>Atg p.V366M ARHGAP21_ENST00000320481.6_Missense_Mutation_p.V153M NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 365 signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 GGAGCCTCCACAGCTTGAGAT 0.413000 20 59 0 0 0.055883 0 0 ANK2 287 broad.mit.edu 37 4 114232510 114232510 + Missense_Mutation SNP G G T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr4:114232510G>T ENST00000357077.4 + 24 2701 c.2648G>T c.(2647-2649)gGt>gTt p.G883V ANK2_ENST00000264366.6_Missense_Mutation_p.G883V|ANK2_ENST00000394537.3_Missense_Mutation_p.G883V|ANK2_ENST00000509550.1_Missense_Mutation_p.G92V|ANK2_ENST00000506722.1_Missense_Mutation_p.G862V NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 883 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TTCCTGGATGGTATGAATTAC 0.448000 5 78 5.9392e-07 7.74451e-07 0.021553 1 0 PTPRB 5787 broad.mit.edu 37 12 70949687 70949687 + Missense_Mutation SNP G G T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr12:70949687G>T ENST00000334414.6 - 19 5000 c.4956C>A c.(4954-4956)agC>agA p.S1652R PTPRB_ENST00000550358.1_Missense_Mutation_p.S1564R|PTPRB_ENST00000550857.1_Missense_Mutation_p.S1344R|PTPRB_ENST00000538708.1_Missense_Mutation_p.S1344R|PTPRB_ENST00000451516.2_Missense_Mutation_p.S1344R|PTPRB_ENST00000261266.5_Missense_Mutation_p.S1434R NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1434 angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CAACCACCTCGCTGGTCATGC 0.527000 31 117 2.47316e-13 3.77348e-13 0.059317 1 0 N6AMT2 221143 broad.mit.edu 37 13 21306050 21306050 + Silent SNP C C T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr13:21306050C>T ENST00000382758.1 - 4 485 c.438G>A c.(436-438)tcG>tcA p.S146S N6AMT2_ENST00000382754.4_Silent_p.S146S Q8WVE0 N6MT2_HUMAN N-6 adenine-specific DNA methyltransferase 2 (putative) 146 methyltransferase activity|nucleic acid binding endometrium(1)|large_intestine(3)|lung(3) 7 all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367) all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431) GACATTCCTCCGAAAGATAGG 0.423000 3 24 0 0 0.009096 0 0 EPHA5 2044 broad.mit.edu 37 4 66361218 66361218 + Missense_Mutation SNP G G C TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr4:66361218G>C ENST00000273854.3 - 4 1554 c.954C>G c.(952-954)agC>agG p.S318R EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Missense_Mutation_p.S318R|EPHA5_ENST00000511294.1_Missense_Mutation_p.S318R NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 318 Cys-rich. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 ATTTGCCGCAGCTCTGGATGT 0.453000 TSP Lung(17;0.13) 11 105 0 0 0.080935 0 0 SLIT3 6586 broad.mit.edu 37 5 168123402 168123402 + Missense_Mutation SNP A A T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr5:168123402A>T ENST00000519560.1 - 28 3396 c.2977T>A c.(2977-2979)Tgt>Agt p.C993S SLIT3_ENST00000404867.3_Missense_Mutation_p.C993S|SLIT3_ENST00000332966.8_Missense_Mutation_p.C1000S NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 993 EGF-like 2. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTGATCTCACACCGCTGCCCC 0.582000 21 31 0 0 0.062417 0 0 RYR2 6262 broad.mit.edu 37 1 237993849 237993849 + Missense_Mutation SNP G G T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr1:237993849G>T ENST00000366574.2 + 103 14992 c.14675G>T c.(14674-14676)gGg>gTg p.G4892V RYR2_ENST00000360064.6_Missense_Mutation_p.G4898V|RYR2_ENST00000462585.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.G4876V NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4892 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTCATCTGTGGGATAGGCAAT 0.438000 21 352 2.44723e-14 3.77281e-14 0.099896 1 0 CNTNAP2 26047 broad.mit.edu 37 7 148080944 148080944 + Missense_Mutation SNP G G A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr7:148080944G>A ENST00000361727.3 + 22 4195 c.3679G>A c.(3679-3681)Gcc>Acc p.A1227T CNTNAP2_ENST00000538075.1_Missense_Mutation_p.A286T|CNTNAP2_ENST00000463592.2_3'UTR NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 1227 A -> T. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CATGTCGTCCGCCACCGACCC 0.592000 HNSCC(39;0.1) 9 16 0 0 0.069234 0 0 SVILP1 645954 broad.mit.edu 37 10 30986357 30986357 + RNA SNP T T C rs117915096 by1000genomes TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr10:30986357T>C ENST00000435645.1 + 0 347 CGGCGCTCAATAGTGGGGACT 0.552000 3 27 0 0 0.115264 0 0 UNC45B 146862 broad.mit.edu 37 17 33496891 33496891 + Missense_Mutation SNP C C G TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr17:33496891C>G ENST00000268876.5 + 11 1585 c.1488C>G c.(1486-1488)gaC>gaG p.D496E UNC45B_ENST00000433649.1_Missense_Mutation_p.D496E|UNC45B_ENST00000378449.1_Intron|UNC45B_ENST00000591048.1_Intron|UNC45B_ENST00000394570.2_Missense_Mutation_p.D496E NM_173167.2 NP_775259.1 Q8IWX7 UN45B_HUMAN unc-45 homolog B (C. elegans) 496 D -> H (in a breast cancer sample; somatic mutation). cell differentiation|muscle organ development cytosol binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) GTGGCACAGACTACGGTCTCA 0.572000 14 30 0 0 0.146539 0 0 SPTBN5 51332 broad.mit.edu 37 15 42147101 42147101 + Missense_Mutation SNP C C A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr15:42147101C>A ENST00000320955.6 - 56 9724 c.9497G>T c.(9496-9498)aGg>aTg p.R3166M NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 3166 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) TGCCAACTTCCTCAGGGCATA 0.597000 6 23 8.12818e-05 9.58543e-05 0.029380 1 0 VIT 5212 broad.mit.edu 37 2 37041396 37041396 + Silent SNP C C T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr2:37041396C>T ENST00000379242.3 + 16 2276 c.1974C>T c.(1972-1974)ccC>ccT p.P658P VIT_ENST00000389975.3_Silent_p.P643P|VIT_ENST00000404084.1_Silent_p.P595P|VIT_ENST00000401530.1_Silent_p.P622P|VIT_ENST00000379241.3_Silent_p.P621P|VIT_ENST00000497382.1_Silent_p.P312P NM_053276.3 NP_444506.2 Q6UXI7 VITRN_HUMAN vitrin 643 VWFA 2. proteinaceous extracellular matrix autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_hematologic(82;0.248) CCACTCACCCCGCCAGAGACC 0.512000 20 29 0 0 0.069288 0 0 LY9 4063 broad.mit.edu 37 1 160783558 160783558 + Missense_Mutation SNP C C A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr1:160783558C>A ENST00000263285.5 + 3 617 c.587C>A c.(586-588)cCc>cAc p.P196H LY9_ENST00000368041.2_Missense_Mutation_p.P156H|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000341032.4_Missense_Mutation_p.P196H|LY9_ENST00000471816.1_3'UTR NM_001261456.1|NM_002348.3 NP_001248385.1|NP_002339.2 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 196 Ig-like C2-type 1. cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) CCAAGGGAACCCCATGCTTCT 0.537000 45 143 2.61675e-31 4.42605e-31 0.131918 1 0 POM121L2 94026 broad.mit.edu 37 6 27278743 27278743 + Missense_Mutation SNP G G T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr6:27278743G>T ENST00000444565.1 - 1 1206 c.1207C>A c.(1207-1209)Cct>Act p.P403T POM121L2_ENST00000377451.2_Intron NM_033482.3 NP_258443.2 C9J1I7 C9J1I7_HUMAN POM121 transmembrane nucleoporin-like 2 403 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1) 7 TCCAACTGAGGATTTGCTCCC 0.498000 5 11 0.000602214 0.000688245 0.014758 1 0 MED12L 116931 broad.mit.edu 37 3 151085515 151085515 + Missense_Mutation SNP G G A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr3:151085515G>A ENST00000474524.1 + 22 3342 c.3304G>A c.(3304-3306)Gtc>Atc p.V1102I MED12L_ENST00000273432.4_Missense_Mutation_p.V962I|P2RY12_ENST00000302632.3_Intron NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 1102 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CCTGGAGGACGTCGTGCAGCA 0.448000 67 83 0 0 0.139131 0 0 FRMPD4 9758 broad.mit.edu 37 X 12722558 12722558 + Missense_Mutation SNP C C T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chrX:12722558C>T ENST00000380682.1 + 11 1657 c.1151C>T c.(1150-1152)tCa>tTa p.S384L NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 384 FERM. positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 AAAGCACTTTCACACCTTGTC 0.368000 6 148 0 0 0.029380 0 0 SLC24A5 283652 broad.mit.edu 37 15 48426633 48426633 + Splice_Site SNP T T C TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr15:48426633T>C ENST00000341459.3 + 4 460 c.385_splice c.e4-1 p.G129_splice SLC24A5_ENST00000449382.2_Splice_Site_p.G69_splice NM_205850.2 NP_995322.1 Q71RS6 NCKX5_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 129 response to stimulus integral to membrane|melanosome|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1) 27 all_lung(180;0.00217) all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07) TGCACATAGGTGTATTTATCA 0.368000 14 69 0 0 0.146539 0 0 SLC22A14 9389 broad.mit.edu 37 3 38355272 38355272 + Silent SNP C C T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr3:38355272C>T ENST00000273173.4 + 7 1309 c.1218C>T c.(1216-1218)ggC>ggT p.G406G SLC22A14_ENST00000448498.1_Silent_p.G406G NM_004803.3 NP_004794.2 Q9Y267 S22AE_HUMAN solute carrier family 22, member 14 406 integral to plasma membrane organic cation transmembrane transporter activity central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) GAGAGCTGGGCGTGAGCGTCC 0.582000 22 105 0 0 0.069288 0 0 RERE 473 broad.mit.edu 37 1 8674657 8674657 + Missense_Mutation SNP G G A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr1:8674657G>A ENST00000337907.3 - 5 1119 c.485C>T c.(484-486)cCa>cTa p.P162L RERE_ENST00000400907.2_Missense_Mutation_p.P162L|RERE_ENST00000400908.2_Missense_Mutation_p.P162L NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 162 BAH. multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) AAGATGCTGTGGTGGCTGTGA 0.488000 12 118 0 0 0.132662 0 0 CFLAR 8837 broad.mit.edu 37 2 202000805 202000805 + Silent SNP A A G TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr2:202000805A>G ENST00000395148.2 + 4 710 c.498A>G c.(496-498)acA>acG p.T166T CFLAR_ENST00000494258.1_Silent_p.T70T|CFLAR_ENST00000443227.1_Silent_p.T70T|CFLAR_ENST00000340870.5_Silent_p.T166T|CFLAR_ENST00000355558.4_Silent_p.T166T|CFLAR_ENST00000341222.6_Silent_p.T166T|CFLAR_ENST00000479953.2_Silent_p.T70T|CFLAR_ENST00000309955.2_Silent_p.T166T|CFLAR_ENST00000457277.1_Silent_p.T166T|CFLAR_ENST00000341582.6_Silent_p.T166T|CFLAR_ENST00000342795.5_Silent_p.T166T|CFLAR_ENST00000440180.1_Silent_p.T166T|CFLAR_ENST00000423241.2_Silent_p.T166T O15519 CFLAR_HUMAN CASP8 and FADD-like apoptosis regulator 166 DED 2.|Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition. anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis cysteine-type endopeptidase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1) 13 ACCTGAAGACAAAAATCCAGA 0.423000 22 58 0 0 0.069288 0 0 CRLF2 64109 broad.mit.edu 37 X 1321328 1321328 + Missense_Mutation SNP A A T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chrX:1321328A>T ENST00000381567.3 - 4 426 c.427T>A c.(427-429)Tac>Aac p.Y143N CRLF2_ENST00000467626.1_5'UTR|CRLF2_ENST00000381566.1_Missense_Mutation_p.Y143N NM_022148.2 NP_071431.2 Q9HC73 CRLF2_HUMAN cytokine receptor-like factor 2 143 Fibronectin type-III. extracellular region|integral to membrane|plasma membrane receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9) 20 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) AGATCCCCGTAGGACAGGTCA 0.587000 """Mis, T""" """P2RY8, IGH@""" """B-ALL, Downs associated ALL""" 19 66 0 0 0.055883 0 0 TTC40 54777 broad.mit.edu 37 10 134664757 134664757 + Missense_Mutation SNP C C A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr10:134664757C>A ENST00000368586.5 - 40 5727 c.5627G>T c.(5626-5628)gGc>gTc p.G1876V TTC40_ENST00000263170.5_Missense_Mutation_p.G37V NM_001200049.2 NP_001186978.2 Q8IYW2 CJ092_HUMAN tetratricopeptide repeat domain 40 37 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 TTCCACGAGGCCGAGCTTGAG 0.612000 9 14 3.09899e-07 4.07689e-07 0.047766 1 0 PAX6 5080 broad.mit.edu 37 11 31815051 31815051 + Missense_Mutation SNP T T G TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr11:31815051T>G ENST00000419022.1 - 12 1477 c.1009A>C c.(1009-1011)Aca>Cca p.T337P PAX6_ENST00000379115.4_Missense_Mutation_p.T337P|PAX6_ENST00000379123.5_Missense_Mutation_p.T323P|PAX6_ENST00000379129.2_Missense_Mutation_p.T337P|PAX6_ENST00000379107.2_Missense_Mutation_p.T337P|PAX6_ENST00000241001.8_Missense_Mutation_p.T323P|PAX6_ENST00000379111.2_Missense_Mutation_p.T323P|PAX6_ENST00000379132.3_Missense_Mutation_p.T323P NM_001127612.1|NM_001258462.1|NM_001258463.1 NP_001121084.1|NP_001245391.1|NP_001245392.1 P26367 PAX6_HUMAN paired box 6 323 Pro/Ser/Thr-rich. blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception cytoplasm|nuclear chromatin R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2) 35 Lung SC(675;0.225) TAGGTGTTTGTGAGGGCTGTG 0.557000 Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation 3 66 0 0 0.115264 0 0 GAP43 2596 broad.mit.edu 37 3 115395284 115395284 + Missense_Mutation SNP C C G TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr3:115395284C>G ENST00000393780.3 + 3 1031 c.563C>G c.(562-564)cCg>cGg p.P188R GAP43_ENST00000305124.6_Missense_Mutation_p.P152R NM_001130064.1 NP_001123536.1 P17677 NEUM_HUMAN growth associated protein 43 152 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding cell junction|filopodium membrane|growth cone membrane|synapse calmodulin binding endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 32 GBM - Glioblastoma multiforme(114;0.164) GATAACTCGCCGTCCTCCAAG 0.617000 9 40 0 0 0.069234 0 0 COL15A1 1306 broad.mit.edu 37 9 101748343 101748343 + Silent SNP C C T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr9:101748343C>T ENST00000375001.3 + 3 1020 c.597C>T c.(595-597)agC>agT p.S199S NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 199 TSP N-terminal. angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) TTGAGTCCAGCGCTGGAATCT 0.557000 6 68 0 0 0.021553 0 0 CDH9 1007 broad.mit.edu 37 5 26881506 26881506 + Silent SNP A A T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr5:26881506A>T ENST00000231021.4 - 12 2281 c.2109T>A c.(2107-2109)acT>acA p.T703T NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 703 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 ACAGAGGCACAGTCCTCCTTA 0.408000 21 73 0 0 0.062417 0 0 SASH1 23328 broad.mit.edu 37 6 148808849 148808849 + Missense_Mutation SNP A A G TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr6:148808849A>G ENST00000367467.3 + 8 1202 c.727A>G c.(727-729)Aat>Gat p.N243D NM_015278.3 NP_056093.3 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 243 protein binding breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) ATCAAACTGCAATGTGAGTTT 0.488000 12 67 0 0 0.080935 0 0 STPG2 285555 broad.mit.edu 37 4 98762072 98762072 + Silent SNP C C A rs149484886 by1000genomes TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr4:98762072C>A ENST00000295268.3 - 9 1145 c.1056G>T c.(1054-1056)gcG>gcT p.A352A STPG2_ENST00000506482.1_Intron NM_174952.2 NP_777612.1 sperm-tail PG-rich repeat containing 2 AGCTGCCTGGCGCTGGAATAA 0.348000 17 32 8.34094e-07 1.06419e-06 0.049695 1 0 TSC22D4 81628 broad.mit.edu 37 7 100075243 100075243 + Missense_Mutation SNP G G C TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr7:100075243G>C ENST00000300181.2 - 2 1173 c.419C>G c.(418-420)cCa>cGa p.P140R TSC22D4_ENST00000393991.1_Intron NM_030935.3 NP_112197.1 Q9Y3Q8 T22D4_HUMAN TSC22 domain family, member 4 140 negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1) 8 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GCCTGACGGTGGGGTGGGGGC 0.711000 5 9 0 0 0.029380 0 0 CSMD3 114788 broad.mit.edu 37 8 113364659 113364659 + Nonsense_Mutation SNP C C A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr8:113364659C>A ENST00000297405.5 - 39 6485 c.6241G>T c.(6241-6243)Gga>Tga p.G2081* CSMD3_ENST00000455883.2_Nonsense_Mutation_p.G1977*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.G2011*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.G2041* NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2081 Sushi 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 AGAGAATATCCTTGATCACAC 0.363000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 13 39 1.49906e-05 1.81111e-05 0.119110 1 0 NRXN1 9378 broad.mit.edu 37 2 50699567 50699567 + Missense_Mutation SNP G G C TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr2:50699567G>C ENST00000404971.1 - 17 4572 c.3233C>G c.(3232-3234)tCc>tGc p.S1078C NRXN1_ENST00000402717.3_Missense_Mutation_p.S1030C|NRXN1_ENST00000405472.3_Missense_Mutation_p.S1030C|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401710.1_Missense_Mutation_p.S47C|NRXN1_ENST00000401669.2_Missense_Mutation_p.S1038C|NRXN1_ENST00000406859.3_Missense_Mutation_p.S1038C|NRXN1_ENST00000406316.2_Missense_Mutation_p.S1038C NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 1038 Laminin G-like 5. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TTTTGGTAAGGATTTGTATGT 0.403000 12 60 0 0 0.080935 0 0 LPAL2 80350 broad.mit.edu 37 6 160932105 160932105 + RNA SNP G G C TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr6:160932105G>C ENST00000335388.5 - 0 51 NR_028092.1 large_intestine(1)|lung(4) 5 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) ACTTACATGAGAGTAAACGCA 0.428000 23 86 0 0 0.099896 0 0 KEAP1 9817 broad.mit.edu 37 19 10602334 10602334 + Missense_Mutation SNP C C T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr19:10602334C>T ENST00000171111.5 - 3 1791 c.1244G>A c.(1243-1245)cGc>cAc p.R415H KEAP1_ENST00000393623.2_Missense_Mutation_p.R415H NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 415 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) CACCCCGATGCGGTTACGGGG 0.657000 10 7 0 0 0.093190 0 0 TENM1 10178 broad.mit.edu 37 X 123785893 123785893 + Missense_Mutation SNP G G C TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chrX:123785893G>C ENST00000422452.2 - 8 1513 c.1450C>G c.(1450-1452)Cgg>Ggg p.R484G TENM1_ENST00000371130.3_Missense_Mutation_p.R484G NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 ATCAGGTTCCGAGGGGAGTGC 0.423000 6 87 0 0 0.021553 0 0 KCNA2 3737 broad.mit.edu 37 1 111146103 111146103 + Silent SNP G G A rs141901988 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr1:111146103G>A ENST00000485317.1 - 3 1975 c.1302C>T c.(1300-1302)agC>agT p.S434S KCNA2_ENST00000369770.3_Intron|KCNA2_ENST00000440270.1_Silent_p.S434S|KCNA2_ENST00000316361.4_Silent_p.S434S P16389 KCNA2_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 2 434 juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191) TCTTTGGACAGCTTGTCACTT 0.468000 13 58 0 0 0.119110 0 0 C4orf19 55286 broad.mit.edu 37 4 37591710 37591710 + Splice_Site SNP C C T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr4:37591710C>T ENST00000284437.6 + 3 211 c.32_splice c.e3-1 p.S11_splice C4orf19_ENST00000508175.1_Intron|C4orf19_ENST00000381980.4_Splice_Site_p.S11_splice NM_018302.2 NP_060772.2 Q8IY42 CD019_HUMAN chromosome 4 open reading frame 19 11 large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1) 9 TTTCCTGAAGCTATCTCTTTG 0.408000 41 160 0 0 0.111260 0 0 PLOD2 5352 broad.mit.edu 37 3 145796987 145796987 + Silent SNP G G C TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr3:145796987G>C ENST00000282903.5 - 13 1593 c.1416C>G c.(1414-1416)ctC>ctG p.L472L RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000461497.1_Silent_p.L132L|PLOD2_ENST00000494950.1_Silent_p.L417L|PLOD2_ENST00000360060.3_Silent_p.L472L NM_182943.2 NP_891988.1 O00469 PLOD2_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 472 protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Vitamin C(DB00126) TCTCTGATCGGAGTGTCTTTC 0.358000 10 65 0 0 0.058154 0 0 HOXD8 3234 broad.mit.edu 37 2 176995617 176995617 + Missense_Mutation SNP C C A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr2:176995617C>A ENST00000313173.4 + 1 1150 c.523C>A c.(523-525)Cac>Aac p.H175N HOXD8_ENST00000548663.1_Missense_Mutation_p.H71N|HOXD8_ENST00000544999.1_Missense_Mutation_p.H175N|HOXD8_ENST00000450510.2_Missense_Mutation_p.H175N|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000429017.1_5'UTR NM_001199746.1|NM_019558.3 NP_001186675.1|NP_062458.1 P13378 HXD8_HUMAN homeobox D8 175 anterior/posterior axis specification, embryo nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195) Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556) GGACCCAGACCACTTAAATCA 0.468000 26 81 1.77063e-15 2.75846e-15 0.108266 1 0 CDC42BPA 8476 broad.mit.edu 37 1 227381578 227381578 + Nonsense_Mutation SNP C C A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr1:227381578C>A ENST00000366769.3 - 5 1799 c.508G>T c.(508-510)Gaa>Taa p.E170* CDC42BPA_ENST00000366764.2_Nonsense_Mutation_p.E170*|CDC42BPA_ENST00000535525.1_Nonsense_Mutation_p.E170*|CDC42BPA_ENST00000366765.3_Nonsense_Mutation_p.E170*|CDC42BPA_ENST00000334218.5_Nonsense_Mutation_p.E170*|CDC42BPA_ENST00000366767.3_Nonsense_Mutation_p.E170*|CDC42BPA_ENST00000366766.2_Nonsense_Mutation_p.E170* NM_003607.3 NP_003598.2 Q5VT25 MRCKA_HUMAN CDC42 binding protein kinase alpha (DMPK-like) 170 Protein kinase. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) AATCTATCTTCAAATTTGCTG 0.353000 16 27 1.56452e-12 2.36275e-12 0.043863 1 0 RGAG4 340526 broad.mit.edu 37 X 71350439 71350439 + Missense_Mutation SNP G G T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chrX:71350439G>T ENST00000545866.1 - 1 1319 c.952C>A c.(952-954)Ccg>Acg p.P318T NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000479991.1_Missense_Mutation_p.P318T Q5HYW3 RGAG4_HUMAN retrotransposon gag domain containing 4 318 cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1) 24 Renal(35;0.156) CCAGGGAGCGGGATAGGCTTG 0.473000 22 137 9.95505e-16 1.5591e-15 0.069288 1 0 LINC01410 103352539 broad.mit.edu 37 9 66458014 66458014 + RNA SNP T T C rs75891239 by1000genomes TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr9:66458014T>C ENST00000424345.1 + 0 67 GGTGCTGCAGTGGCGGATCTT 0.721000 3 19 0 0 0.009096 0 0 FOXK1 221937 broad.mit.edu 37 7 4800711 4800711 + Silent SNP C C T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr7:4800711C>T ENST00000328914.4 + 8 1713 c.1713C>T c.(1711-1713)ccC>ccT p.P571P FOXK1_ENST00000446823.1_Silent_p.P408P NM_001037165.1 NP_001032242.1 P85037 FOXK1_HUMAN forkhead box K1 571 cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|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 breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15) AGGAGAAACCCACCATTGCGT 0.642000 4 32 0 0 0.021553 0 0 RBP3 5949 broad.mit.edu 37 10 48388966 48388966 + Missense_Mutation SNP C C T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr10:48388966C>T ENST00000224600.4 - 1 2025 c.1912G>A c.(1912-1914)Gcc>Acc p.A638T NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 638 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) TCCACCAAGGCCCCCAGGCTT 0.692000 5 17 0 0 0.014758 0 0 TIE1 7075 broad.mit.edu 37 1 43774757 43774757 + Silent SNP G G A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr1:43774757G>A ENST00000372476.3 + 8 1222 c.1143G>A c.(1141-1143)gtG>gtA p.V381V TIE1_ENST00000441333.2_Intron|TIE1_ENST00000433781.2_Silent_p.V26V NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 381 Ig-like C2-type 2. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CCTTCCCCGTGCGGGGCAGCA 0.622000 23 82 0 0 0.069288 0 0 CXorf64 100130613 broad.mit.edu 37 X 125955279 125955279 + Missense_Mutation SNP C C T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chrX:125955279C>T ENST00000371125.3 + 2 738 c.658C>T c.(658-660)Cac>Tac p.H220Y NM_001122716.1 NP_001116188.1 B1ATL7 CX064_HUMAN chromosome X open reading frame 64 220 Pro-rich. GGGCCCATGCCACCCCATGCA 0.522000 9 14 0 0 0.047766 0 0 KIF21A 55605 broad.mit.edu 37 12 39725586 39725586 + Missense_Mutation SNP C C G TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr12:39725586C>G ENST00000395670.3 - 22 3478 c.3059G>C c.(3058-3060)gGt>gCt p.G1020A KIF21A_ENST00000361961.3_Missense_Mutation_p.G1007A|KIF21A_ENST00000361418.5_Missense_Mutation_p.G1020A|KIF21A_ENST00000541463.2_Missense_Mutation_p.G984A|KIF21A_ENST00000544797.2_Missense_Mutation_p.G1007A Q7Z4S6 KI21A_HUMAN kinesin family member 21A 1020 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) CAATGTCTCACCTTCTTCCTG 0.393000 25 104 0 0 0.091800 0 0 FBN2 2201 broad.mit.edu 37 5 127636547 127636547 + Missense_Mutation SNP C C A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr5:127636547C>A ENST00000508053.1 - 54 7102 c.6128G>T c.(6127-6129)tGt>tTt p.C2043F FBN2_ENST00000262464.4_Missense_Mutation_p.C2043F P35556 FBN2_HUMAN fibrillin 2 2043 EGF-like 34; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CCCTGGGGGACAGATGCATCT 0.448000 21 50 1.9806e-07 2.6408e-07 0.069288 1 0 ZNF285 26974 broad.mit.edu 37 19 44892196 44892196 + Missense_Mutation SNP G G C TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr19:44892196G>C ENST00000330997.4 - 4 275 c.211C>G c.(211-213)Ctt>Gtt p.L71V CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.L71V|ZNF285_ENST00000591679.1_Missense_Mutation_p.L78V NM_152354.3 NP_689567.3 zinc finger protein 285 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 CAGCAATGAAGCACTTCTTGC 0.403000 17 40 0 0 0.038395 0 0 GALNT16 57452 broad.mit.edu 37 14 69798189 69798189 + Silent SNP C C A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr14:69798189C>A ENST00000337827.4 + 7 1026 c.699C>A c.(697-699)acC>acA p.T233T GALNT16_ENST00000448469.3_Silent_p.T233T|GALNT16_ENST00000553669.1_Silent_p.T233T NM_001168368.1|NM_020692.2 NP_001161840.1|NP_065743.2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16 AGGACCACACCCGCGTGGTGA 0.557000 31 126 5.90632e-09 8.40515e-09 0.050027 1 0 UGT2B10 7365 broad.mit.edu 37 4 69682436 69682436 + Missense_Mutation SNP G G C TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr4:69682436G>C ENST00000265403.7 + 1 726 c.699G>C c.(697-699)caG>caC p.Q233H UGT2B10_ENST00000458688.2_Intron NM_001075.4 NP_001066.1 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B10 233 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 AGTGGGATCAGTTTTACAGTG 0.308000 12 32 0 0 0.105934 0 0 GP2 2813 broad.mit.edu 37 16 20329668 20329668 + Silent SNP G G A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr16:20329668G>A ENST00000302555.5 - 7 1241 c.1092C>T c.(1090-1092)taC>taT p.Y364Y GP2_ENST00000341642.5_Silent_p.Y217Y|GP2_ENST00000381360.5_Silent_p.Y220Y|GP2_ENST00000381362.4_Silent_p.Y367Y P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 367 ZP. anchored to membrane|extracellular region|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 CATCCCCTTCGTAAGGATTCG 0.507000 76 264 0 0 0.139131 0 0 TRPC6 7225 broad.mit.edu 37 11 101375222 101375222 + Silent SNP G G T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr11:101375222G>T ENST00000344327.3 - 2 902 c.478C>A c.(478-480)Cga>Aga p.R160R TRPC6_ENST00000360497.4_Silent_p.R160R|TRPC6_ENST00000348423.4_Silent_p.R160R|TRPC6_ENST00000532133.1_Silent_p.R160R NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 160 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) TCCCCAACTCGAGAGAGGTTT 0.448000 16 40 3.52763e-06 4.40582e-06 0.033300 1 0 HOOK3 84376 broad.mit.edu 37 8 42823316 42823316 + Missense_Mutation SNP G G T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr8:42823316G>T ENST00000307602.4 + 11 1281 c.1081G>T c.(1081-1083)Gcc>Tcc p.A361S NM_032410.3 NP_115786.1 Q86VS8 HOOK3_HUMAN hook microtubule-tethering protein 3 361 cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport cis-Golgi network|FHF complex|microtubule|pericentriolar material identical protein binding|microtubule binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 31 Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114) GTTAAGAAAGGCCAACGCAGC 0.418000 T RET papillary thyroid 15 77 2.32078e-09 3.36741e-09 0.132662 1 0 CYP26A1 1592 broad.mit.edu 37 10 94836933 94836933 + Missense_Mutation SNP A A G TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr10:94836933A>G ENST00000371531.1 + 7 1537 c.1159A>G c.(1159-1161)Aca>Gca p.T387A CYP26A1_ENST00000394139.1_Missense_Mutation_p.T387A|CYP26A1_ENST00000224356.4_Missense_Mutation_p.T456A NM_057157.2 NP_476498.1 O43174 CP26A_HUMAN cytochrome P450, family 26, subfamily A, polypeptide 1 456 negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 Colorectal(252;0.122) CAAAATATTTACAGTGGAGCT 0.473000 4 17 0 0 0.014758 0 0 IPCEF1 26034 broad.mit.edu 37 6 154544347 154544347 + Missense_Mutation SNP G G A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr6:154544347G>A ENST00000265198.4 - 6 429 c.274C>T c.(274-276)Cct>Tct p.P92S OPRM1_ENST00000337049.4_Intron|IPCEF1_ENST00000519344.1_Missense_Mutation_p.P64S|IPCEF1_ENST00000367220.4_Missense_Mutation_p.P93S|IPCEF1_ENST00000422970.2_Missense_Mutation_p.P93S NM_001130700.1|NM_015553.2 NP_001124172.1|NP_056368.1 interaction protein for cytohesin exchange factors 1 breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 12 GTGAAATCAGGCAGGTTGACA 0.388000 22 45 0 0 0.076483 0 0 PRSS1 5644 broad.mit.edu 37 7 142460823 142460823 + Silent SNP C C T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr7:142460823C>T ENST00000486171.1 + 6 755 c.738C>T c.(736-738)gtC>gtT p.V246V PRSS1_ENST00000311737.7_Silent_p.V232V P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 232 digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) ACACCAAGGTCTACAACTATG 0.488000 19 64 0 0 0.038395 0 0 JAG1 182 broad.mit.edu 37 20 10621877 10621877 + Missense_Mutation SNP G G A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr20:10621877G>A ENST00000254958.5 - 24 3447 c.2932C>T c.(2932-2934)Cac>Tac p.H978Y JAG1_ENST00000423891.2_Missense_Mutation_p.H819Y NM_000214.2 NP_000205.1 P78504 JAG1_HUMAN jagged 1 978 angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 CTGCAAATGTGCTCCGTAGTA 0.408000 Alagille Syndrome 12 25 0 0 0.080935 0 0 MAGEA11 4110 broad.mit.edu 37 X 148797640 148797640 + Missense_Mutation SNP C C A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chrX:148797640C>A ENST00000355220.5 + 5 596 c.494C>A c.(493-495)gCt>gAt p.A165D MAGEA11_ENST00000333104.4_Missense_Mutation_p.A136D NM_005366.4 NP_005357.2 P43364 MAGAB_HUMAN melanoma antigen family A, 11 165 cytoplasm|nucleus protein binding cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1) 9 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) GAGTTGCCTGCTGCTGAGTCA 0.587000 4 54 0.00909568 0.00986198 0.009096 1 0 PHKA2 5256 broad.mit.edu 37 X 18915323 18915323 + Silent SNP G G T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chrX:18915323G>T ENST00000379942.4 - 30 3905 c.3240C>A c.(3238-3240)gtC>gtA p.V1080V NM_000292.2 NP_000283.1 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 1080 Calmodulin-binding (Potential). glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Hepatocellular(33;0.183) ATCCCACGGGGACCCTGTTGA 0.627000 8 44 1.12685e-05 1.3783e-05 0.047766 1 0 OR1M1 125963 broad.mit.edu 37 19 9204125 9204125 + Missense_Mutation SNP G G A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr19:9204125G>A ENST00000429566.3 + 1 271 c.205G>A c.(205-207)Gtt>Att p.V69I NM_001004456.1 NP_001004456.1 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, member 1 69 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V69I(2) breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 CCTGTCCCTGGTTGATTTCTG 0.557000 4 101 0 0 0.009096 0 0 DCST1 149095 broad.mit.edu 37 1 155011886 155011886 + Silent SNP G G T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr1:155011886G>T ENST00000295542.1 + 5 366 c.270G>T c.(268-270)ggG>ggT p.G90G DCST1_ENST00000392480.1_Silent_p.G90G|DCST1_ENST00000423025.2_Silent_p.G65G|DCST1_ENST00000368419.2_Silent_p.G90G NM_152494.3 NP_689707.2 Q5T197 DCST1_HUMAN DC-STAMP domain containing 1 90 integral to membrane zinc ion binding breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 27 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) CAGGCTTGGGGGCCATGGGCT 0.617000 8 91 1.06961e-07 1.4326e-07 0.038147 1 0 HRNR 388697 broad.mit.edu 37 1 152191897 152191897 + Silent SNP T T A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr1:152191897T>A ENST00000368801.2 - 3 2283 c.2208A>T c.(2206-2208)tcA>tcT p.S736S FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 736 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CACTCCTAGATGACTGTCCTG 0.552000 10 53 0 0 0.080935 0 0 ACKR3 57007 broad.mit.edu 37 2 237489382 237489382 + Missense_Mutation SNP T T A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr2:237489382T>A ENST00000272928.3 + 2 584 c.274T>A c.(274-276)Tgg>Agg p.W92R NM_020311.2 NP_064707.1 atypical chemokine receptor 3 TGCCGACCTGTGGGTTGTCCT 0.567000 30 107 0 0 0.050027 0 0 ZC3H12B 340554 broad.mit.edu 37 X 64722025 64722025 + Missense_Mutation SNP G G C TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chrX:64722025G>C ENST00000338957.4 + 5 1514 c.1447G>C c.(1447-1449)Ggt>Cgt p.G483R ZC3H12B_ENST00000423889.3_Missense_Mutation_p.G472R NM_001010888.3 NP_001010888.3 Q5HYM0 ZC12B_HUMAN zinc finger CCCH-type containing 12B 472 endonuclease activity|nucleic acid binding|zinc ion binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CCATGCAGTGGGTGCACTCAA 0.587000 23 252 0 0 0.083992 0 0 GBP5 115362 broad.mit.edu 37 1 89732239 89732239 + Missense_Mutation SNP G G C TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr1:89732239G>C ENST00000343435.5 - 7 1194 c.658C>G c.(658-660)Ccc>Gcc p.P220A RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Missense_Mutation_p.P220A|GBP5_ENST00000481145.1_5'UTR NM_001134486.2|NM_052942.3 NP_001127958.1|NP_443174.1 Q96PP8 GBP5_HUMAN guanylate binding protein 5 220 plasma membrane GTP binding|GTPase activity breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1) 24 all cancers(265;0.00784)|Epithelial(280;0.0286) CACAGACGGGGCAAATTGAAA 0.338000 10 52 0 0 0.080935 0 0 PSG1 5669 broad.mit.edu 37 19 43376074 43376074 + Missense_Mutation SNP T T A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr19:43376074T>A ENST00000244296.2 - 3 691 c.554A>T c.(553-555)cAg>cTg p.Q185L PSG1_ENST00000403380.3_Intron|PSG1_ENST00000312439.6_Missense_Mutation_p.Q185L|PSG1_ENST00000595124.1_Intron|PSG1_ENST00000595356.1_Missense_Mutation_p.Q185L|PSG1_ENST00000436291.2_Missense_Mutation_p.Q185L NM_006905.2 NP_008836.2 pregnancy specific beta-1-glycoprotein 1 breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 Prostate(69;0.00682) AGGGAGGCTCTGACCATTCAT 0.507000 157 286 0 0 0.139131 0 0 CREG2 200407 broad.mit.edu 37 2 101971757 101971757 + Missense_Mutation SNP G G T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr2:101971757G>T ENST00000324768.4 - 3 820 c.683C>A c.(682-684)tCt>tAt p.S228Y NM_153836.3 NP_722578.1 Q8IUH2 CREG2_HUMAN cellular repressor of E1A-stimulated genes 2 228 extracellular region FMN binding endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 10 TTCTTCTGGAGACACTGCGAT 0.393000 8 19 0.00448238 0.00491402 0.047766 1 0 SIGLEC6 946 broad.mit.edu 37 19 52031475 52031475 + Nonsense_Mutation SNP C C A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr19:52031475C>A ENST00000346477.3 - 5 1065 c.997G>T c.(997-999)Gga>Tga p.G333* SIGLEC6_ENST00000391797.3_Intron|SIGLEC6_ENST00000359982.4_Nonsense_Mutation_p.G360*|SIGLEC6_ENST00000436458.1_Nonsense_Mutation_p.G297*|SIGLEC6_ENST00000474054.1_5'UTR|SIGLEC6_ENST00000425629.3_Nonsense_Mutation_p.G349*|SIGLEC6_ENST00000343300.4_Intron NM_198845.4 NP_942142.3 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 349 Ig-like C2-type 2. cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) CAGACTGCTCCCAGGACACCA 0.502000 18 32 5.03518e-11 7.45207e-11 0.043863 1 0 ACO1 48 broad.mit.edu 37 9 32436254 32436254 + Silent SNP T T C TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr9:32436254T>C ENST00000379923.1 + 19 2312 c.2106T>C c.(2104-2106)acT>acC p.T702T ACO1_ENST00000541043.1_Silent_p.T603T|ACO1_ENST00000309951.5_Silent_p.T702T NM_001278352.1 NP_001265281.1 P21399 ACOC_HUMAN aconitase 1, soluble 702 citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle cytosol|endoplasmic reticulum|Golgi apparatus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 30 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;3.94e-06) TTAGCCTAACTCCACGAGAAT 0.428000 5 45 0 0 0.021553 0 0 NALCN 259232 broad.mit.edu 37 13 101728244 101728244 + Missense_Mutation SNP A A G TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr13:101728244A>G ENST00000251127.6 - 35 4015 c.3934T>C c.(3934-3936)Ttc>Ctc p.F1312L NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 1312 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CAGATGGAGAAAAACCTAAAT 0.313000 31 65 0 0 0.059317 0 0 MXRA5 25878 broad.mit.edu 37 X 3238059 3238059 + Missense_Mutation SNP C C A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chrX:3238059C>A ENST00000217939.6 - 5 5821 c.5667G>T c.(5665-5667)aaG>aaT p.K1889N NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1889 Ig-like C2-type 3. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CTGTGGAAACCTTTGTCCAAG 0.393000 7 27 0.00198382 0.00220756 0.029380 1 0 EFHB 151651 broad.mit.edu 37 3 19921148 19921148 + Missense_Mutation SNP C C A rs151124981 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr3:19921148C>A ENST00000295824.9 - 13 2638 c.2477G>T c.(2476-2478)cGg>cTg p.R826L EFHB_ENST00000344838.4_Missense_Mutation_p.R696L NM_144715.3 NP_653316.3 Q8N7U6 EFHB_HUMAN EF-hand domain family, member B 826 R -> W (in dbSNP:rs11917204). signal transduction proteinaceous extracellular matrix calcium ion binding breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1) 26 ACACTTGATCCGGTCTGCATG 0.348000 7 81 0.00198382 0.00220756 0.029380 1 0 BIRC6 57448 broad.mit.edu 37 2 32658763 32658763 + Missense_Mutation SNP G G T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr2:32658763G>T ENST00000421745.2 + 13 3434 c.3300G>T c.(3298-3300)atG>atT p.M1100I NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 1100 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) AAGCTTGTATGGTTGGACATG 0.363000 8 43 7.48243e-07 9.67161e-07 0.058154 1 0 ALMS1 7840 broad.mit.edu 37 2 73835701 73835701 + Splice_Site SNP G G T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr2:73835701G>T ENST00000264448.6 + 22 12570 c.12459_splice c.e22+1 p.K4153_splice ALMS1_ENST00000409009.1_Splice_Site_p.K4111_splice NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 4153 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 TATATAAAAAGGTCAGTGGGT 0.433000 7 29 8.12818e-05 9.58543e-05 0.029380 1 0 MCM3 4172 broad.mit.edu 37 6 52131450 52131450 + Missense_Mutation SNP T T C TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr6:52131450T>C ENST00000596288.1 - 15 2279 c.2252A>G c.(2251-2253)gAc>gGc p.D751G MCM3_ENST00000419835.2_Missense_Mutation_p.D660G|MCM3_ENST00000229854.7_Missense_Mutation_p.D706G NM_002388.4 NP_002379.3 P25205 MCM3_HUMAN minichromosome maintenance complex component 3 706 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm ATP binding|DNA binding|helicase activity|protein binding endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Lung NSC(77;0.0931) GTCATAGGGGTCGTATGAATC 0.478000 5 381 0 0 0.014758 0 0 APC 324 broad.mit.edu 37 5 112175871 112175871 + Missense_Mutation SNP C C T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr5:112175871C>T ENST00000457016.1 + 16 4960 c.4580C>T c.(4579-4581)cCa>cTa p.P1527L APC_ENST00000257430.4_Missense_Mutation_p.P1527L|APC_ENST00000508376.2_Missense_Mutation_p.P1527L|CTC-554D6.1_ENST00000520401.1_Intron P25054 APC_HUMAN adenomatous polyposis coli 1527 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.K1192fs*3(1)|p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) ATAATGCCTCCAGTTCAGGAA 0.388000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 28 53 0 0 0.134883 0 0 MYO7B 4648 broad.mit.edu 37 2 128394193 128394193 + Missense_Mutation SNP C C A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr2:128394193C>A ENST00000389524.4 + 45 6175 c.6122C>A c.(6121-6123)cCc>cAc p.P2041H MYO7B_ENST00000428314.1_Missense_Mutation_p.P2040H|MYO7B_ENST00000409816.2_Missense_Mutation_p.P2040H|MYO7B_ENST00000409090.1_Missense_Mutation_p.P893H Q6PIF6 MYO7B_HUMAN myosin VIIB 2040 FERM 2. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) CTCATCCACCCCAAGACCAAG 0.647000 4 8 8.12818e-05 9.58543e-05 0.029380 1 0 EDIL3 10085 broad.mit.edu 37 5 83433157 83433157 + Missense_Mutation SNP T T G TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr5:83433157T>G ENST00000296591.5 - 5 789 c.371A>C c.(370-372)gAa>gCa p.E124A EDIL3_ENST00000380138.3_Missense_Mutation_p.E114A NM_005711.3 NP_005702.3 O43854 EDIL3_HUMAN EGF-like repeats and discoidin I-like domains 3 124 EGF-like 3. cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3) 31 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) AGGCTCAACTTCGCATTCATT 0.333000 20 45 0 0 0.069288 0 0 SDR42E1 93517 broad.mit.edu 37 16 82033761 82033761 + Missense_Mutation SNP G G C TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr16:82033761G>C ENST00000328945.5 - 3 264 c.137C>G c.(136-138)aCc>aGc p.T46S SDR42E1_ENST00000534209.1_5'UTR NM_145168.2 NP_660151.2 Q8WUS8 D42E1_HUMAN short chain dehydrogenase/reductase family 42E, member 1 46 steroid biosynthetic process integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding NS(2)|endometrium(1)|lung(4)|skin(3) 10 TTCTGGAATGGTTTGAGCAGG 0.458000 31 182 0 0 0.080422 0 0 SNRNP40 9410 broad.mit.edu 37 1 31740734 31740734 + Missense_Mutation SNP C C A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr1:31740734C>A ENST00000263694.4 - 8 922 c.904G>T c.(904-906)Gct>Tct p.A302S SNRNP40_ENST00000373720.3_Missense_Mutation_p.A72S|SNRNP40_ENST00000489853.1_5'UTR|SNRNP40_ENST00000446633.2_Missense_Mutation_p.A302S NM_004814.2 NP_004805.2 Q96DI7 SNR40_HUMAN small nuclear ribonucleoprotein 40kDa (U5) 302 catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP protein binding breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 7 GCTGAGCCAGCTGCTATTTTG 0.473000 13 47 6.31663e-08 8.49873e-08 0.132662 1 0 CRHBP 1393 broad.mit.edu 37 5 76251567 76251567 + Missense_Mutation SNP T T G TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr5:76251567T>G ENST00000274368.4 + 4 845 c.423T>G c.(421-423)tgT>tgG p.C141W CRHBP_ENST00000506501.1_Missense_Mutation_p.C141W NM_001882.3 NP_001873.2 P24387 CRHBP_HUMAN corticotropin releasing hormone binding protein 141 female pregnancy|learning or memory|signal transduction soluble fraction kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 16 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41) TAGATTTCTGTGAGAGTGGTC 0.463000 20 36 0 0 0.055883 0 0 GOT2 2806 broad.mit.edu 37 16 58743428 58743428 + Missense_Mutation SNP G G A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr16:58743428G>A ENST00000245206.5 - 9 1191 c.1063C>T c.(1063-1065)Cgg>Tgg p.R355W GOT2_ENST00000434819.2_Missense_Mutation_p.R312W NM_002080.2 NP_002071.2 P00505 AATM_HUMAN glutamic-oxaloacetic transaminase 2, mitochondrial 355 aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol mitochondrial matrix|plasma membrane L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding p.R355W(2)|p.R355G(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1) 22 L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) AGTTGAGTCCGCATGCCAATG 0.507000 4 256 0 0 0.009096 0 0 SEMA5A 9037 broad.mit.edu 37 5 9154783 9154783 + Missense_Mutation SNP C C T rs138343991 by1000genomes TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr5:9154783C>T ENST00000382496.5 - 12 1963 c.1298G>A c.(1297-1299)cGg>cAg p.R433Q NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 433 Sema. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 CAGGGGTACCCGCACTTTCTT 0.512000 14 75 0 0 0.033300 0 0 PRDM1 639 broad.mit.edu 37 6 106554875 106554875 + Silent SNP C C T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr6:106554875C>T ENST00000369096.4 + 7 2226 c.1992C>T c.(1990-1992)tgC>tgT p.C664C PRDM1_ENST00000369089.3_Silent_p.C530C|PRDM1_ENST00000369091.2_Silent_p.C628C NM_001198.3 NP_001189.2 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain 664 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2) 94 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) GCAAGGTGTGCCCTGCCAAGT 0.547000 """D, N, Mis, F, S""" DLBCL 4 122 0 0 0.014758 0 0 NRAP 4892 broad.mit.edu 37 10 115349505 115349505 + Missense_Mutation SNP G G C TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr10:115349505G>C ENST00000369358.4 - 41 5276 c.5032C>G c.(5032-5034)Cct>Gct p.P1678A NRAP_ENST00000359988.3_Missense_Mutation_p.P1670A|NRAP_ENST00000369360.3_Missense_Mutation_p.P1643A|NRAP_ENST00000360478.3_Missense_Mutation_p.P1635A Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 1670 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) TAGGAGCCAGGAGGGGTCCAG 0.557000 13 32 0 0 0.146539 0 0 PLCL2 23228 broad.mit.edu 37 3 17056392 17056392 + Missense_Mutation SNP A A T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr3:17056392A>T ENST00000418129.2 + 3 3094 c.2629A>T c.(2629-2631)Act>Tct p.T877S PLCL2_ENST00000432376.1_Missense_Mutation_p.T877S|PLCL2_ENST00000396755.2_Missense_Mutation_p.T877S NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 1003 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 GATCGTAACAACTTATGACAT 0.483000 20 100 0 0 0.043863 0 0 FAM135B 51059 broad.mit.edu 37 8 139209862 139209862 + Missense_Mutation SNP C C G TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr8:139209862C>G ENST00000395297.1 - 8 890 c.720G>C c.(718-720)tgG>tgC p.W240C NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 240 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GGTCTCGGTGCCACTTGTGTG 0.577000 HNSCC(54;0.14) 16 34 0 0 0.146539 0 0 MTRR 4552 broad.mit.edu 37 5 7878268 7878268 + Missense_Mutation SNP G G A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr5:7878268G>A ENST00000264668.2 + 5 724 c.694G>A c.(694-696)Gag>Aag p.E232K MTRR_ENST00000440940.2_Missense_Mutation_p.E205K|MTRR_ENST00000341013.6_3'UTR NM_002454.2|NM_024010.2 NP_002445.2|NP_076915.2 Q9UBK8 MTRR_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase reductase 232 Hinge. methionine biosynthetic process cytosol [methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1) 31 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) AAAGGATTCTGAGGTTTTGAA 0.458000 17 75 0 0 0.033300 0 0 MUC17 140453 broad.mit.edu 37 7 100677005 100677005 + Missense_Mutation SNP A A C TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr7:100677005A>C ENST00000306151.4 + 3 2372 c.2308A>C c.(2308-2310)Act>Cct p.T770P NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 770 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CCTTTCAACAACTCCTCTTGA 0.473000 22 232 0 0 0.069288 0 0 PRR5 55615 broad.mit.edu 37 22 45132724 45132724 + Missense_Mutation SNP A A T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr22:45132724A>T ENST00000403581.1 + 10 1442 c.833A>T c.(832-834)tAc>tTc p.Y278F ARHGAP8_ENST00000517296.3_Intron|ARHGAP8_ENST00000389773.5_Intron|PRR5_ENST00000477331.1_3'UTR|PRR5_ENST00000336985.6_Missense_Mutation_p.Y255F|PRR5-ARHGAP8_ENST00000352766.7_Intron|PRR5-ARHGAP8_ENST00000361473.5_Intron NM_001198721.1 NP_001185650.1 proline rich 5 (renal) central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1) 11 all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647) UCEC - Uterine corpus endometrioid carcinoma (28;0.168) TCCAAGAGCTACAACACGCCT 0.682000 5 10 0 0 0.014758 0 0 CACNA1C 775 broad.mit.edu 37 12 2775889 2775889 + Silent SNP C C A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr12:2775889C>A ENST00000399655.1 + 37 4829 c.4564C>A c.(4564-4566)Cgg>Agg p.R1522R CACNA1C_ENST00000399629.1_Silent_p.R1539R|CACNA1C_ENST00000399606.1_Silent_p.R1542R|CACNA1C_ENST00000327702.7_Silent_p.R1522R|CACNA1C_ENST00000335762.5_Silent_p.R1547R|CACNA1C_ENST00000399649.1_Silent_p.R1509R|CACNA1C_ENST00000399638.1_Silent_p.R1550R|CACNA1C_ENST00000399603.1_Silent_p.R1522R|CACNA1C_ENST00000399617.1_Silent_p.R1522R|CACNA1C_ENST00000399591.1_Silent_p.R1511R|CACNA1C_ENST00000399597.1_Silent_p.R1522R|CACNA1C_ENST00000406454.3_Silent_p.R1522R|CACNA1C_ENST00000399595.1_Silent_p.R1511R|CACNA1C_ENST00000402845.3_Silent_p.R1522R|CACNA1C_ENST00000399644.1_Silent_p.R1522R|CACNA1C_ENST00000399637.1_Silent_p.R1522R|CACNA1C_ENST00000399621.1_Silent_p.R1522R|CACNA1C_ENST00000347598.4_Silent_p.R1570R|CACNA1C_ENST00000344100.3_Silent_p.R1544R|CACNA1C_ENST00000399634.1_Silent_p.R1522R|CACNA1C_ENST00000399601.1_Silent_p.R1522R|CACNA1C_ENST00000399641.1_Silent_p.R1522R NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 1570 Dihydropyridine binding (By similarity).|Phenylalkylamine binding (By similarity). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GACCCTCCTCCGGCGGATTCA 0.587000 5 11 1.23904e-05 1.5031e-05 0.014758 1 0 KRTAP13-1 140258 broad.mit.edu 37 21 31768824 31768824 + Silent SNP G G T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr21:31768824G>T ENST00000355459.2 + 1 433 c.420G>T c.(418-420)ctG>ctT p.L140L NM_181599.2 NP_853630.2 Q8IUC0 KR131_HUMAN keratin associated protein 13-1 140 intermediate filament endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TCCCTTCCCTGGGCTATGGCG 0.567000 11 28 3.07112e-06 3.85191e-06 0.080935 1 0 WBSCR17 64409 broad.mit.edu 37 7 71130408 71130408 + Missense_Mutation SNP G G A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr7:71130408G>A ENST00000333538.5 + 7 1727 c.1093G>A c.(1093-1095)Ggg>Agg p.G365R WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 365 Catalytic subdomain B. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) ATGGCTCTGTGGGGGCAGCAT 0.512000 24 84 0 0 0.108266 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125521610 125521610 + Missense_Mutation SNP A A G TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr2:125521610A>G ENST00000431078.1 + 16 2780 c.2416A>G c.(2416-2418)Acc>Gcc p.T806A NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 806 Laminin G-like 3. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) CCACTTTCCTACCTTCCATGC 0.408000 30 116 0 0 0.134883 0 0 NOD2 64127 broad.mit.edu 37 16 50745449 50745449 + Missense_Mutation SNP C C T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr16:50745449C>T ENST00000300589.2 + 4 1732 c.1627C>T c.(1627-1629)Cgc>Tgc p.R543C NM_022162.1 NP_071445.1 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain containing 2 543 NACHT. activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|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 cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding p.R543C(1) cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3) 52 all_cancers(37;0.0156) TCTTCGGGGCCGCCTCCCCAC 0.617000 4 34 0 0 0.009096 0 0 NLGN1 22871 broad.mit.edu 37 3 173997312 173997312 + Missense_Mutation SNP C C A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr3:173997312C>A ENST00000457714.1 + 6 1950 c.1521C>A c.(1519-1521)gaC>gaA p.D507E NLGN1_ENST00000401917.3_Missense_Mutation_p.D547E|NLGN1_ENST00000361589.4_Missense_Mutation_p.D507E|NLGN1_ENST00000545397.1_Missense_Mutation_p.D507E NM_014932.2 NP_055747.1 Q8N2Q7 NLGN1_HUMAN neuroligin 1 524 calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity p.D507D(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) CCCACGGAGACGAGGTTCCCT 0.453000 9 43 0.0477658 0.0504952 0.047766 1 0 IGKV1D-16 28901 broad.mit.edu 37 2 90139104 90139104 + RNA SNP C C A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr2:90139104C>A ENST00000492446.1 + 0 27 CAGGACACAGCATGGACATGA 0.542000 31 153 2.85442e-18 4.59189e-18 0.045705 1 0 LRP1B 53353 broad.mit.edu 37 2 141625751 141625751 + Silent SNP G G T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr2:141625751G>T ENST00000389484.3 - 26 5222 c.4251C>A c.(4249-4251)atC>atA p.I1417I NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1417 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TGTCTTTATAGATGGTTTTTC 0.393000 TSP Lung(27;0.18) 20 51 3.8784e-16 6.10642e-16 0.062417 1 0 PCDHGA2 56113 broad.mit.edu 37 5 140719887 140719887 + Missense_Mutation SNP C C G TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr5:140719887C>G ENST00000394576.2 + 1 1349 c.1349C>G c.(1348-1350)cCc>cGc p.P450R PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACAACGCACCCGCCTTCTCC 0.552000 33 69 0 0 0.059317 0 0 CPN1 1369 broad.mit.edu 37 10 101816798 101816798 + Missense_Mutation SNP C C A rs140666731 by1000genomes TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr10:101816798C>A ENST00000370418.3 - 6 1234 c.983G>T c.(982-984)cGg>cTg p.R328L NM_001308.2 NP_001299.1 P15169 CBPN_HUMAN carboxypeptidase N, polypeptide 1 328 Catalytic. proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding p.R328L(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 33 Colorectal(252;0.234) Epithelial(162;4.77e-10)|all cancers(201;3.82e-08) TAGGGCTTCCCGATTACCCAG 0.458000 34 215 3.90053e-15 6.0448e-15 0.050027 1 0 IGHV3-35 28432 broad.mit.edu 37 14 106845521 106845521 + RNA SNP A A G TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr14:106845521A>G ENST00000390617.2 - 0 167 AGTTCATGTCACTGTTACTGA 0.567000 47 638 0 0 0.139131 0 0 SPHKAP 80309 broad.mit.edu 37 2 228883645 228883645 + Missense_Mutation SNP G G A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr2:228883645G>A ENST00000392056.3 - 7 1971 c.1925C>T c.(1924-1926)tCc>tTc p.S642F SPHKAP_ENST00000344657.5_Missense_Mutation_p.S642F NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 642 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CCTGTTCATGGAGTCCAGAAA 0.478000 16 40 0 0 0.146539 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90502663 90502663 + Silent SNP A A G TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr9:90502663A>G ENST00000325643.5 + 4 3327 c.3261A>G c.(3259-3261)ccA>ccG p.P1087P NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 CTCAGGATCCAGAGCAGCTGC 0.612000 4 69 0 0 0.009096 0 0 ABCC12 94160 broad.mit.edu 37 16 48174704 48174704 + Nonsense_Mutation SNP C C T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr16:48174704C>T ENST00000311303.3 - 4 896 c.551G>A c.(550-552)tGg>tAg p.W184* ABCC12_ENST00000448542.1_Nonsense_Mutation_p.W184*|ABCC12_ENST00000416054.1_Nonsense_Mutation_p.W184* NM_033226.2 NP_150229.2 Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 184 ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.W184L(1) NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) GTTGATGGCCCAGGCAAGGGC 0.522000 28 177 0 0 0.116897 0 0 TBC1D31 93594 broad.mit.edu 37 8 124140704 124140704 + Missense_Mutation SNP C C G TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr8:124140704C>G ENST00000287380.1 + 14 2158 c.2068C>G c.(2068-2070)Cag>Gag p.Q690E TBC1D31_ENST00000522420.1_Missense_Mutation_p.Q585E|TBC1D31_ENST00000378080.2_Missense_Mutation_p.Q585E|TBC1D31_ENST00000518805.1_Intron|TBC1D31_ENST00000327098.5_Missense_Mutation_p.Q690E|TBC1D31_ENST00000309336.3_Missense_Mutation_p.Q690E|TBC1D31_ENST00000521676.1_Missense_Mutation_p.Q567E NM_145647.3 NP_663622.2 TBC1 domain family, member 31 CTATCAAACACAGGAACGAGA 0.313000 12 57 0 0 0.105934 0 0 SYT9 143425 broad.mit.edu 37 11 7334892 7334892 + Missense_Mutation SNP C C A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr11:7334892C>A ENST00000318881.6 + 3 1001 c.764C>A c.(763-765)aCt>aAt p.T255N SYT9_ENST00000396716.2_Missense_Mutation_p.T223N NM_175733.3 NP_783860.1 Q86SS6 SYT9_HUMAN synaptotagmin IX 255 C2 1. cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 38 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) TTTTCTGGGACTTCAGATCCT 0.408000 10 83 0.00829132 0.0090229 0.069234 1 0 ZNF157 7712 broad.mit.edu 37 X 47272470 47272470 + Missense_Mutation SNP G G T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chrX:47272470G>T ENST00000377073.3 + 4 1084 c.998G>T c.(997-999)gGt>gTt p.G333V NM_003446.3 NP_003437.2 P51786 ZN157_HUMAN zinc finger protein 157 333 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 TATGAGTGTGGTGAATGTGGG 0.403000 14 28 3.27435e-08 4.4664e-08 0.119110 1 0 GPR84 53831 broad.mit.edu 37 12 54756620 54756620 + Missense_Mutation SNP T T C TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr12:54756620T>C ENST00000551809.1 - 1 1651 c.1016A>G c.(1015-1017)aAc>aGc p.N339S GPR84_ENST00000267015.3_Missense_Mutation_p.N339S|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA Q9NQS5 GPR84_HUMAN G protein-coupled receptor 84 339 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1) 18 ATCCAGAATGTTGAGCAGCAA 0.542000 29 83 0 0 0.050027 0 0 CDH18 1016 broad.mit.edu 37 5 19612586 19612586 + Missense_Mutation SNP G G C TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr5:19612586G>C ENST00000507958.1 - 8 1758 c.768C>G c.(766-768)atC>atG p.I256M CDH18_ENST00000502796.1_Missense_Mutation_p.I256M|CDH18_ENST00000382275.1_Missense_Mutation_p.I256M|CDH18_ENST00000506372.1_Missense_Mutation_p.I256M|CDH18_ENST00000274170.4_Missense_Mutation_p.I256M|CDH18_ENST00000511273.1_Missense_Mutation_p.I256M Q13634 CAD18_HUMAN cadherin 18, type 2 256 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) CGGTTAAGGTGATGTTGACTG 0.403000 6 50 0 0 0.021553 0 0 FPR2 2358 broad.mit.edu 37 19 52272462 52272462 + Missense_Mutation SNP G G T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr19:52272462G>T ENST00000598776.1 + 2 1323 c.551G>T c.(550-552)gGt>gTt p.G184V FPR2_ENST00000340023.6_Missense_Mutation_p.G184V|FPR2_ENST00000598953.1_Missense_Mutation_p.G184V NM_001462.3 NP_001453.1 P25090 FPR2_HUMAN formyl peptide receptor 2 184 cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 GCATCCTGGGGTGGCACCCCT 0.473000 27 67 5.61819e-17 8.94077e-17 0.108266 1 0 ZP4 57829 broad.mit.edu 37 1 238053889 238053889 + Missense_Mutation SNP G G A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr1:238053889G>A ENST00000366570.4 - 1 205 c.47C>T c.(46-48)gCt>gTt p.A16V RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 16 acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) GCCACTCACAGCAAGAGATAA 0.552000 3 51 0 0 0.115264 0 0 MT-CO1 4512 broad.mit.edu 37 MT 6463 6463 + Missense_Mutation SNP C C T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chrM:6463C>T ENST00000361624.2 + 1 560 c.560C>T c.(559-561)tCc>tTc p.187_187insF mitochondrially encoded cytochrome c oxidase I breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3) 54 CTTCGTCTGATCCGTCCTAAT 0.468000 26 305 0 0 0.134883 0 0 IGKV2D-24 28885 broad.mit.edu 37 2 90044417 90044417 + RNA SNP G G T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr2:90044417G>T ENST00000462693.1 + 0 368 GTTTATTACTGCACGCAAGCT 0.532000 54 191 4.45325e-31 7.48956e-31 0.139131 1 0 TRIQK 286144 broad.mit.edu 37 8 93898855 93898855 + Missense_Mutation SNP C C A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr8:93898855C>A ENST00000521988.1 - 5 574 c.256G>T c.(256-258)Gat>Tat p.D86Y TRIQK_ENST00000519069.1_3'UTR|CTD-3239E11.2_ENST00000523197.1_RNA|TRIQK_ENST00000537541.1_Missense_Mutation_p.D86Y|TRIQK_ENST00000520686.1_Missense_Mutation_p.D86Y|TRIQK_ENST00000518748.1_Missense_Mutation_p.D86Y|TRIQK_ENST00000521617.1_Missense_Mutation_p.D86Y|CTD-3239E11.2_ENST00000521203.1_RNA|TRIQK_ENST00000520430.1_Missense_Mutation_p.D86Y|TRIQK_ENST00000524037.1_3'UTR|TRIQK_ENST00000519969.1_Missense_Mutation_p.D86Y|TRIQK_ENST00000523580.1_3'UTR|TRIQK_ENST00000517540.1_5'UTR|TRIQK_ENST00000524107.1_Missense_Mutation_p.D86Y|TRIQK_ENST00000517858.1_3'UTR|TRIQK_ENST00000378861.5_Missense_Mutation_p.D86Y NM_001171797.1 NP_001165268.1 Q629K1 TRIQK_HUMAN triple QxxK/R motif containing 86 endoplasmic reticulum membrane|integral to membrane endometrium(3) 3 CTTAGCTAATCTTCATCTTGG 0.383000 6 10 0.00307968 0.00338879 0.038147 1 0 TRBV6-8 28599 broad.mit.edu 37 7 142124428 142124428 + RNA SNP C C A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr7:142124428C>A ENST00000390376.2 - 0 49 ATTCACTGGACCTGCAGAGAA 0.552000 51 117 8.00217e-19 1.29434e-18 0.139131 1 0 TMEM132A 54972 broad.mit.edu 37 11 60699470 60699470 + Silent SNP G G A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr11:60699470G>A ENST00000005286.4 + 7 1383 c.1230G>A c.(1228-1230)gtG>gtA p.V410V TMEM132A_ENST00000453848.2_Silent_p.V409V NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 409 endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 AGGAGCTGGTGAATACAGCAC 0.667000 5 18 0 0 0.021553 0 0 FMN2 56776 broad.mit.edu 37 1 240635683 240635683 + Missense_Mutation SNP C C A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr1:240635683C>A ENST00000319653.9 + 17 5302 c.5072C>A c.(5071-5073)gCc>gAc p.A1691D FMN2_ENST00000545751.1_Missense_Mutation_p.A287D|FMN2_ENST00000543681.1_Missense_Mutation_p.A11D|FMN2_ENST00000496950.1_3'UTR|AL646016.1_ENST00000596886.1_Intron NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1691 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GTAAAAGAAGCCGAAGAGGTG 0.333000 24 43 3.28513e-13 4.98665e-13 0.091800 1 0 ANK3 288 broad.mit.edu 37 10 61832647 61832647 + Silent SNP C C T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr10:61832647C>T ENST00000280772.1 - 37 8183 c.7992G>A c.(7990-7992)gaG>gaA p.E2664E ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 2664 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TGGGTGCCTTCTCCTCGGCCT 0.537000 4 50 0 0 0.021553 0 0 ABCC11 85320 broad.mit.edu 37 16 48204061 48204061 + Silent SNP C C T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr16:48204061C>T ENST00000394747.1 - 27 4195 c.3846G>A c.(3844-3846)gaG>gaA p.E1282E ABCC11_ENST00000394748.1_Silent_p.E1282E|ABCC11_ENST00000353782.5_Intron|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Silent_p.E1282E NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 1282 ABC transporter 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) GCAGCTGCCTCTCCCCCACAG 0.542000 46 198 0 0 0.139131 0 0 WDPCP 51057 broad.mit.edu 37 2 63631702 63631702 + Missense_Mutation SNP C C T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr2:63631702C>T ENST00000409120.1 - 4 3890 c.340G>A c.(340-342)Gta>Ata p.V114I WDPCP_ENST00000398544.3_Missense_Mutation_p.V147I|WDPCP_ENST00000409199.1_Missense_Mutation_p.V114I|WDPCP_ENST00000409562.3_Missense_Mutation_p.V306I|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000272321.7_Missense_Mutation_p.V306I O95876 FRITZ_HUMAN WD repeat containing planar cell polarity effector 306 cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization cilium axoneme|cytoplasm|cytoskeleton|plasma membrane central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1) 35 TCTACACTTACGGAGTGCTCC 0.468000 21 147 0 0 0.062417 0 0 ZAN 7455 broad.mit.edu 37 7 100350349 100350349 + RNA SNP C C A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr7:100350349C>A ENST00000542585.1 + 0 2769 ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_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) CTCACCATCCCCACGGAAAAA 0.498000 8 13 0.000673444 0.00076669 0.069234 1 0 TBX22 50945 broad.mit.edu 37 X 79282220 79282220 + Missense_Mutation SNP G G T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chrX:79282220G>T ENST00000442340.1 + 6 781 c.291G>T c.(289-291)atG>atT p.M97I TBX22_ENST00000373296.3_Missense_Mutation_p.M217I|TBX22_ENST00000373294.5_Missense_Mutation_p.M217I|TBX22_ENST00000373291.1_Missense_Mutation_p.M97I NM_001109878.1|NM_001109879.1 NP_001103348.1|NP_001103349.1 Q9Y458 TBX22_HUMAN T-box 22 217 multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 TGCAATCCATGCATAAGTACA 0.483000 15 79 3.27435e-08 4.4664e-08 0.119110 1 0 LAMA2 3908 broad.mit.edu 37 6 129634156 129634156 + Missense_Mutation SNP T T A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr6:129634156T>A ENST00000421865.2 + 23 3374 c.3325T>A c.(3325-3327)Ttc>Atc p.F1109I NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1109 Laminin EGF-like 13. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CTGTGACTGCTTCCTCCCTGG 0.483000 8 78 0 0 0.038147 0 0 GEM 2669 broad.mit.edu 37 8 95262780 95262780 + Missense_Mutation SNP A A G TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr8:95262780A>G ENST00000297596.2 - 5 913 c.649T>C c.(649-651)Ttc>Ctc p.F217L GEM_ENST00000396194.2_Missense_Mutation_p.F217L NM_005261.3 NP_005252.1 P55040 GEM_HUMAN GTP binding protein overexpressed in skeletal muscle 217 cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction internal side of plasma membrane calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 22 Breast(36;4.65e-06) Myeloproliferative disorder(644;0.204) BRCA - Breast invasive adenocarcinoma(8;0.00691) GTCTCGATGAACTTGCAGTCA 0.552000 19 54 0 0 0.049695 0 0 ALPK2 115701 broad.mit.edu 37 18 56247641 56247641 + Missense_Mutation SNP T T A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr18:56247641T>A ENST00000361673.3 - 4 580 c.367A>T c.(367-369)Agg>Tgg p.R123W NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 123 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 TTCCAACCCCTGTCCCTGTCA 0.443000 5 96 0 0 0.021553 0 0 DCHS2 54798 broad.mit.edu 37 4 155180879 155180879 + Missense_Mutation SNP G G T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr4:155180879G>T ENST00000357232.3 - 20 5241 c.5242C>A c.(5242-5244)Ctt>Att p.L1748I NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 1748 Cadherin 15. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TCAAAATCAAGAAACTTGGGT 0.318000 13 56 9.31168e-06 1.14368e-05 0.105934 1 0 RYR2 6262 broad.mit.edu 37 1 237947956 237947956 + Missense_Mutation SNP G G T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr1:237947956G>T ENST00000366574.2 + 90 13261 c.12944G>T c.(12943-12945)gGg>gTg p.G4315V RYR2_ENST00000360064.6_Missense_Mutation_p.G4321V|RYR2_ENST00000542537.1_Missense_Mutation_p.G4299V NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4315 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTGCTGCTTGGGGGAAGCCTC 0.507000 35 58 6.53348e-20 1.07439e-19 0.064281 1 0 ZNF485 220992 broad.mit.edu 37 10 44112694 44112694 + Missense_Mutation SNP G G C TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr10:44112694G>C ENST00000361807.3 + 5 1397 c.1203G>C c.(1201-1203)caG>caC p.Q401H ZNF485_ENST00000374435.3_Missense_Mutation_p.Q401H|ZNF485_ENST00000374437.2_Missense_Mutation_p.Q310H NM_145312.3 NP_660355.2 Q8NCK3 ZN485_HUMAN zinc finger protein 485 401 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 TTGAACATCAGAGACTCCATA 0.408000 17 26 0 0 0.043863 0 0 DLG2 1740 broad.mit.edu 37 11 83183817 83183817 + Missense_Mutation SNP C C T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr11:83183817C>T ENST00000398309.2 - 18 2452 c.1982G>A c.(1981-1983)gGa>gAa p.G661E DLG2_ENST00000532653.1_Missense_Mutation_p.G643E|DLG2_ENST00000524982.1_Missense_Mutation_p.G657E|DLG2_ENST00000531015.1_Missense_Mutation_p.G628E|DLG2_ENST00000280241.8_Missense_Mutation_p.G700E|DLG2_ENST00000418306.2_Missense_Mutation_p.G540E|DLG2_ENST00000376104.2_Missense_Mutation_p.G766E|DLG2_ENST00000426717.2_Missense_Mutation_p.G125E|DLG2_ENST00000543673.1_Missense_Mutation_p.G766E|DLG2_ENST00000376106.3_Missense_Mutation_p.G125E|DLG2_ENST00000537455.1_Missense_Mutation_p.G411E|DLG2_ENST00000404783.3_Missense_Mutation_p.G139E|DLG2_ENST00000330014.6_Missense_Mutation_p.G582E NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 661 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) GTCTTCTTGTCCTCCTGAGAA 0.443000 18 21 0 0 0.055883 0 0 RGL3 57139 broad.mit.edu 37 19 11507974 11507974 + Missense_Mutation SNP G G A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr19:11507974G>A ENST00000380456.3 - 18 2023 c.1960C>T c.(1960-1962)Ccc>Tcc p.P654S RGL3_ENST00000568628.1_5'UTR|RGL3_ENST00000393423.3_Missense_Mutation_p.P660S NM_001035223.2|NM_001161616.1 NP_001030300.2|NP_001155088.1 Q3MIN7 RGL3_HUMAN ral guanine nucleotide dissociation stimulator-like 3 654 Interaction with HRAS, MRAS and RIT1 (By similarity).|Ras-associating. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1) 18 CAGGGCTGGGGCACATTGTGC 0.662000 21 31 0 0 0.091800 0 0 SLC9B1 150159 broad.mit.edu 37 4 103822371 103822371 + Missense_Mutation SNP C C A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr4:103822371C>A ENST00000296422.7 - 12 1592 c.1451G>T c.(1450-1452)gGa>gTa p.G484V SLC9B1_ENST00000512651.2_5'UTR|SLC9B1_ENST00000394789.3_Intron NM_139173.3 NP_631912.2 Q4ZJI4 NHDC1_HUMAN solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 484 integral to membrane solute:hydrogen antiporter activity AAGTAGAGCTCCATTTGGAGC 0.423000 6 209 0.0381472 0.0404716 0.038147 1 0 SLC2A12 154091 broad.mit.edu 37 6 134350827 134350827 + Missense_Mutation SNP T T A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr6:134350827T>A ENST00000275230.5 - 2 291 c.136A>T c.(136-138)Act>Tct p.T46S NM_145176.2 NP_660159.1 Q8TD20 GTR12_HUMAN solute carrier family 2 (facilitated glucose transporter), member 12 46 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 17 Breast(56;0.214)|Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123) ACAGCAGCAGTGACAGATGAC 0.483000 10 80 0 0 0.058154 0 0 DNASE2B 58511 broad.mit.edu 37 1 84880404 84880404 + Silent SNP G G A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr1:84880404G>A ENST00000370665.3 + 6 972 c.939G>A c.(937-939)aaG>aaA p.K313K DNASE2B_ENST00000370662.3_Silent_p.K105K NM_021233.2 NP_067056.2 Q8WZ79 DNS2B_HUMAN deoxyribonuclease II beta 313 DNA metabolic process lysosome deoxyribonuclease II activity endometrium(1)|lung(4)|skin(1) 6 all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808) TTTCCCAAAAGGGCACCAAAA 0.398000 4 30 0 0 0.009096 0 0 PRICKLE2 166336 broad.mit.edu 37 3 64142982 64142982 + Silent SNP G G T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr3:64142982G>T ENST00000295902.6 - 5 1041 c.456C>A c.(454-456)ggC>ggA p.G152G PRICKLE2_ENST00000564377.1_Silent_p.G208G NM_198859.3 NP_942559.1 Q7Z3G6 PRIC2_HUMAN prickle homolog 2 (Drosophila) 152 LIM zinc-binding 1. cytoplasm|nuclear membrane zinc ion binding breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1) 32 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) GCCAGCAAACGCCGTGGCCAG 0.552000 8 26 0.0381472 0.0404716 0.038147 1 0 RP2 6102 broad.mit.edu 37 X 46713150 46713150 + Nonsense_Mutation SNP C C A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chrX:46713150C>A ENST00000218340.3 + 2 503 c.342C>A c.(340-342)tgC>tgA p.C114* NM_006915.2 NP_008846.2 O75695 XRP2_HUMAN retinitis pigmentosa 2 (X-linked recessive) 114 C-CAP/cofactor C-like. cell morphogenesis|CTP biosynthetic process|GTP biosynthetic process|protein folding|UTP biosynthetic process|visual perception cytoplasm|plasma membrane ATP binding|GTP binding|GTPase activator activity|nucleoside diphosphate kinase activity|unfolded protein binding NS(1)|large_intestine(4)|lung(5)|stomach(1) 11 CATTAGCCTGCCAACAATTTC 0.418000 8 82 1.58986e-06 2.01111e-06 0.069234 1 0 MCOLN1 57192 broad.mit.edu 37 19 7593514 7593514 + Silent SNP G G T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr19:7593514G>T ENST00000264079.6 + 8 1034 c.909G>T c.(907-909)gtG>gtT p.V303V NM_020533.2 NP_065394.1 Q9GZU1 MCLN1_HUMAN mucolipin 1 303 calcium ion transport|cellular iron ion homeostasis|transferrin transport integral to plasma membrane|late endosome membrane|lysosomal membrane cation channel activity|iron ion transmembrane transporter activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 TGTTTGACGTGGTGGTCATCC 0.622000 15 19 4.7546e-09 6.79885e-09 0.146539 1 0 WDTC1 23038 broad.mit.edu 37 1 27614294 27614294 + Missense_Mutation SNP G G T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr1:27614294G>T ENST00000319394.3 + 6 956 c.421G>T c.(421-423)Gcc>Tcc p.A141S WDTC1_ENST00000361771.3_Missense_Mutation_p.A141S NM_001276252.1|NM_015023.3 NP_001263181.1|NP_055838.2 Q8N5D0 WDTC1_HUMAN WD and tetratricopeptide repeats 1 141 protein binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1) 21 all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476) GAAGCGCATCGCCACAGCGCC 0.582000 5 18 0.00198382 0.00220756 0.029380 1 0 MEOX1 4222 broad.mit.edu 37 17 41738663 41738663 + Missense_Mutation SNP G G T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr17:41738663G>T ENST00000549132.1 - 1 268 c.152C>A c.(151-153)tCt>tAt p.S51Y MEOX1_ENST00000329168.3_Silent_p.I80I|MEOX1_ENST00000318579.4_Silent_p.I80I|MEOX1_ENST00000393661.2_5'UTR P50221 MEOX1_HUMAN mesenchyme homeobox 1 27 nucleus sequence-specific DNA binding NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 8 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.0753) GCTCAGTGAAGATGTGCTCCT 0.657000 7 33 2.7689e-08 3.84786e-08 0.029380 1 0 MAMLD1 10046 broad.mit.edu 37 X 149639223 149639223 + Missense_Mutation SNP C C A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chrX:149639223C>A ENST00000370401.2 + 4 1688 c.1378C>A c.(1378-1380)Cca>Aca p.P460T MAMLD1_ENST00000426613.2_Missense_Mutation_p.P435T|MAMLD1_ENST00000262858.5_Missense_Mutation_p.P460T|MAMLD1_ENST00000432680.2_Missense_Mutation_p.P435T Q13495 MAMD1_HUMAN mastermind-like domain containing 1 460 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) ACCCTATCGCCCAGAGAAGCT 0.572000 37 82 1.36161e-19 2.22673e-19 0.069456 1 0 PIK3R6 146850 broad.mit.edu 37 17 8730560 8730560 + Missense_Mutation SNP C C A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr17:8730560C>A ENST00000311434.9 - 13 1683 c.1444G>T c.(1444-1446)Ggc>Tgc p.G482C PIK3R6_ENST00000434064.2_5'UTR NM_001010855.2 NP_001010855.1 Q5UE93 PI3R6_HUMAN phosphoinositide-3-kinase, regulatory subunit 6 482 platelet activation cytosol TCTACGCGGCCCAGGAACGTA 0.657000 8 15 0.000274275 0.000318374 0.047766 1 0 CCDC150 284992 broad.mit.edu 37 2 197521518 197521518 + Missense_Mutation SNP C C T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr2:197521518C>T ENST00000389175.4 + 3 473 c.338C>T c.(337-339)tCc>tTc p.S113F CCDC150_ENST00000423093.2_Intron|CCDC150_ENST00000472405.2_Missense_Mutation_p.S10F|CCDC150_ENST00000272831.7_Intron NM_001080539.1 NP_001074008.1 Q8NCX0 CC150_HUMAN coiled-coil domain containing 150 113 breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 33 CTCATGCAGTCCTTGAAGATG 0.383000 23 70 0 0 0.099896 0 0 OR7A17 26333 broad.mit.edu 37 19 14991763 14991763 + Silent SNP G G T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr19:14991763G>T ENST00000327462.2 - 1 501 c.405C>A c.(403-405)atC>atA p.I135I NM_030901.1 NP_112163.1 O14581 OR7AH_HUMAN olfactory receptor, family 7, subfamily A, member 17 135 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1) 12 Ovarian(108;0.203) GAGGGTTCATGATGACTGTGT 0.488000 36 64 2.40579e-17 3.84927e-17 0.086207 1 0 LRP1 4035 broad.mit.edu 37 12 57602924 57602924 + Silent SNP C C T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr12:57602924C>T ENST00000243077.3 + 79 12670 c.12204C>T c.(12202-12204)gtC>gtT p.V4068V NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 4068 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) AGCTTTCAGTCATCGGCAGCA 0.612000 8 31 0 0 0.058154 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37732582 37732582 + Missense_Mutation SNP G G A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr8:37732582G>A ENST00000330843.4 - 3 1085 c.1073C>T c.(1072-1074)aCa>aTa p.T358I RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.T358I|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.T210I|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.T210I NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 358 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) CAGGTTCTCTGTAGAAGAGAA 0.562000 30 65 0 0 0.125774 0 0 ZNF746 155061 broad.mit.edu 37 7 149191294 149191294 + Splice_Site SNP C C T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr7:149191294C>T ENST00000461958.2 - 2 521 c.e2+1 ZNF746_ENST00000340622.3_Splice_Site|ZNF746_ENST00000458143.2_Splice_Site Q6NUN9 ZN746_HUMAN zinc finger protein 746 negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent cytoplasm|nucleus transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) CCCAGGGCTACCTTAGGGGAC 0.657000 52 131 0 0 0.139131 0 0 SYNE1 23345 broad.mit.edu 37 6 152770719 152770719 + Missense_Mutation SNP C C A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr6:152770719C>A ENST00000367255.5 - 28 4054 c.3453G>T c.(3451-3453)aaG>aaT p.K1151N SYNE1_ENST00000367253.4_Missense_Mutation_p.K1151N|SYNE1_ENST00000448038.1_Missense_Mutation_p.K1158N|SYNE1_ENST00000413186.2_Missense_Mutation_p.K1151N|SYNE1_ENST00000423061.1_Missense_Mutation_p.K1158N|SYNE1_ENST00000265368.4_Missense_Mutation_p.K1151N|SYNE1_ENST00000367248.3_Missense_Mutation_p.K1141N|SYNE1_ENST00000341594.5_Missense_Mutation_p.K1217N NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1151 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TGGCCTCACCCTTGATCCCCT 0.403000 HNSCC(10;0.0054) 6 82 0.00198382 0.00220756 0.029380 1 0 ASB17 127247 broad.mit.edu 37 1 76397586 76397586 + Silent SNP G G A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr1:76397586G>A ENST00000284142.6 - 1 530 c.391C>T c.(391-393)Ctg>Ttg p.L131L NM_080868.2 NP_543144.1 Q8WXJ9 ASB17_HUMAN ankyrin repeat and SOCS box containing 17 131 intracellular signal transduction breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1) 21 CTCCATATCAGTGCCAGGTTA 0.343000 9 22 0 0 0.047766 0 0 LRRTM3 347731 broad.mit.edu 37 10 68686880 68686880 + Missense_Mutation SNP G G A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr10:68686880G>A ENST00000361320.4 + 2 784 c.206G>A c.(205-207)cGc>cAc p.R69H CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron NM_178011.3 NP_821079.3 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 69 integral to membrane breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 41 TTGTCCCTTCGCTATAACAGC 0.398000 39 70 0 0 0.074837 0 0 KDM2B 84678 broad.mit.edu 37 12 121878958 121878958 + Silent SNP G G A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr12:121878958G>A ENST00000377069.4 - 19 3562 c.3156C>T c.(3154-3156)atC>atT p.I1052I KDM2B_ENST00000377071.4_Silent_p.I1121I|KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Silent_p.I489I NM_001005366.1 NP_001005366.1 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B 1121 Pro-rich. embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 GTCGCCGGATGATGCCACTCA 0.622000 5 61 0 0 0.021553 0 0 SERPINB4 6318 broad.mit.edu 37 18 61305029 61305029 + Missense_Mutation SNP T T C TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr18:61305029T>C ENST00000341074.5 - 8 1212 c.1097A>G c.(1096-1098)aAt>aGt p.N366S SERPINB4_ENST00000356424.6_Missense_Mutation_p.N314S NM_002974.2 NP_002965.1 serpin peptidase inhibitor, clade B (ovalbumin), member 4 breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 42 GAAAGGGTGATTACAACAGAA 0.438000 30 80 0 0 0.144211 0 0 BAGE2 85319 broad.mit.edu 37 21 11039232 11039232 + RNA SNP C C A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr21:11039232C>A ENST00000470054.1 - 0 971 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TCTTTGGATACCACTGTTTTA 0.408000 13 250 9.31168e-06 1.14368e-05 0.105934 1 0 TMEM8B 51754 broad.mit.edu 37 9 35853738 35853738 + Silent SNP G G T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr9:35853738G>T ENST00000377988.2 + 13 2608 c.1320G>T c.(1318-1320)cgG>cgT p.R440R TMEM8B_ENST00000377991.4_Silent_p.R440R NM_001042590.2 NP_001036055.1 A6NDV4 TMM8B_HUMAN transmembrane protein 8B 440 cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1) 7 CTGGAGCCCGGGCCCGGGGCT 0.632000 10 18 3.86212e-05 4.62829e-05 0.069234 1 0 PLAT 5327 broad.mit.edu 37 8 42048920 42048920 + Silent SNP G G T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr8:42048920G>T ENST00000220809.4 - 3 341 c.85C>A c.(85-87)Cga>Aga p.R29R PLAT_ENST00000352041.3_Silent_p.R29R|PLAT_ENST00000524009.1_Silent_p.R29R|PLAT_ENST00000429710.2_Silent_p.R29R|PLAT_ENST00000429089.2_Silent_p.R29R|PLAT_ENST00000270189.6_Silent_p.R29R|PLAT_ENST00000519510.1_Silent_p.R29R NM_000930.3 NP_000921.1 P00750 TPA_HUMAN plasminogen activator, tissue 29 blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis cell surface|cytoplasm|extracellular space protein binding|serine-type endopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013) CTTCTGAATCGGGCATGGATT 0.582000 24 68 1.16021e-09 1.69173e-09 0.125774 1 0 CDCA2 157313 broad.mit.edu 37 8 25346185 25346185 + Missense_Mutation SNP G G A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr8:25346185G>A ENST00000330560.3 + 13 2128 c.1651G>A c.(1651-1653)Gca>Aca p.A551T CDCA2_ENST00000380665.3_Missense_Mutation_p.A536T|CDCA2_ENST00000521098.2_3'UTR NM_152562.2 NP_689775.2 Q69YH5 CDCA2_HUMAN cell division cycle associated 2 551 Lys-rich. cell division|mitosis cytoplasm|nucleus breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3) 35 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) TACAAAGAGAGCACTTCCTAA 0.323000 9 46 0 0 0.080935 0 0 CRLF2 64109 broad.mit.edu 37 X 1315012 1315012 + Missense_Mutation SNP C C A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chrX:1315012C>A ENST00000381567.3 - 6 648 c.649G>T c.(649-651)Gcc>Tcc p.A217S CRLF2_ENST00000467626.1_5'UTR NM_022148.2 NP_071431.2 Q9HC73 CRLF2_HUMAN cytokine receptor-like factor 2 217 extracellular region|integral to membrane|plasma membrane receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9) 20 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) TCTGCACAGGCATCTGAAACA 0.473000 """Mis, T""" """P2RY8, IGH@""" """B-ALL, Downs associated ALL""" 4 34 0.0215528 0.0230311 0.021553 1 0 PRUNE 58497 broad.mit.edu 37 1 150998086 150998086 + Missense_Mutation SNP C C G TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr1:150998086C>G ENST00000271620.3 + 5 772 c.616C>G c.(616-618)Cca>Gca p.P206A PRUNE_ENST00000368937.1_Missense_Mutation_p.P24A|PRUNE_ENST00000368935.1_Intron|PRUNE_ENST00000271619.8_Missense_Mutation_p.P47A|PRUNE_ENST00000368934.1_Missense_Mutation_p.P24A|PRUNE_ENST00000467771.1_3'UTR|PRUNE_ENST00000368936.1_Missense_Mutation_p.P24A NM_021222.1 NP_067045.1 Q86TP1 PRUNE_HUMAN prune exopolyphosphatase 206 cytoplasm|focal adhesion|nucleus inorganic diphosphatase activity|manganese ion binding|protein binding NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 14 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GGCCCTTTTCCCAGACCTACC 0.423000 30 177 0 0 0.054565 0 0 TECTA 7007 broad.mit.edu 37 11 121000540 121000540 + Missense_Mutation SNP C C T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr11:121000540C>T ENST00000392793.1 + 10 2832 c.2561C>T c.(2560-2562)gCc>gTc p.A854V TECTA_ENST00000264037.2_Missense_Mutation_p.A854V O75443 TECTA_HUMAN tectorin alpha 854 VWFD 2. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) TTCTACAATGCCAACGCCAGT 0.537000 9 68 0 0 0.058154 0 0 FKBP6 8468 broad.mit.edu 37 7 72755322 72755322 + Silent SNP A A G TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr7:72755322A>G ENST00000252037.4 + 7 903 c.834A>G c.(832-834)cgA>cgG p.R278R FKBP6_ENST00000413573.2_Silent_p.R248R|FKBP6_ENST00000431982.2_Silent_p.R273R NM_003602.3 NP_003593.3 O75344 FKBP6_HUMAN FK506 binding protein 6, 36kDa 278 protein folding membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10) 16 Lung NSC(55;0.0908)|all_lung(88;0.198) TTCTAGTTCGAGCCCAGAAGG 0.458000 40 130 0 0 0.092188 0 0 IGHV3-23 28442 broad.mit.edu 37 14 106725382 106725382 + RNA SNP C C T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr14:106725382C>T ENST00000390609.2 - 0 248 TGGAGCCTGGCGGACCCAGCT 0.597000 5 651 0 0 0.014758 0 0 MARCH10 162333 broad.mit.edu 37 17 60813722 60813722 + Missense_Mutation SNP C C T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr17:60813722C>T ENST00000544856.2 - 7 1882 c.1504G>A c.(1504-1506)Gga>Aga p.G502R RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.G503R|MARCH10_ENST00000583600.1_Missense_Mutation_p.G541R|RP11-156L14.1_ENST00000579201.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000311269.5_Missense_Mutation_p.G503R Q8NA82 MARHA_HUMAN membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase 503 ligase activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15) 38 CCTGAGTTTCCCTCTGAGTCT 0.438000 22 64 0 0 0.069288 0 0 BRDT 676 broad.mit.edu 37 1 92447221 92447221 + Silent SNP G G A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr1:92447221G>A ENST00000370389.2 + 12 2616 c.1692G>A c.(1690-1692)ctG>ctA p.L564L BRDT_ENST00000402388.1_Silent_p.L637L|BRDT_ENST00000399546.2_Silent_p.L637L|BRDT_ENST00000362005.3_Silent_p.L637L|BRDT_ENST00000394530.3_Silent_p.L591L NM_001242810.1 NP_001229739.1 Q58F21 BRDT_HUMAN bromodomain, testis-specific 637 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) TTTCCCGACTGAGTGAGagca 0.423000 12 61 0 0 0.132662 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 29301284 29301284 + Missense_Mutation SNP G G T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chrX:29301284G>T ENST00000378993.1 + 3 985 c.312G>T c.(310-312)tgG>tgT p.W104C IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.W104C NM_014271.3 NP_055086.1 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 104 Ig-like C2-type 1. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 ACTCCATTTGGTTCCGGCCAA 0.448000 27 72 1.12875e-08 1.59862e-08 0.116897 1 0 PRPS1 5631 broad.mit.edu 37 X 106884176 106884176 + Silent SNP T T A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chrX:106884176T>A ENST00000372435.4 + 3 473 c.351T>A c.(349-351)tcT>tcA p.S117S PRPS1_ENST00000372419.3_Silent_p.S117S|PRPS1_ENST00000543248.1_Silent_p.S117S|PRPS1_ENST00000372418.1_Intron|PRPS1_ENST00000372428.4_Silent_p.S50S NM_002764.3 NP_002755.1 P60891 PRPS1_HUMAN phosphoribosyl pyrophosphate synthetase 1 117 5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process cytosol ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1) 23 ATATGCTATCTGTAGCAGGTG 0.413000 14 104 0 0 0.146539 0 0 GRM1 2911 broad.mit.edu 37 6 146350745 146350745 + Missense_Mutation SNP G G C TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr6:146350745G>C ENST00000392299.2 + 2 562 c.92G>C c.(91-93)gGa>gCa p.G31A GRM1_ENST00000355289.4_Missense_Mutation_p.G31A|GRM1_ENST00000507907.1_Missense_Mutation_p.G31A|GRM1_ENST00000282753.1_Missense_Mutation_p.G31A|GRM1_ENST00000492807.2_Missense_Mutation_p.G31A|GRM1_ENST00000361719.2_Missense_Mutation_p.G31A Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 31 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) TTGCTGGCAGGAGCGTCGTCT 0.582000 41 96 0 0 0.139131 0 0 KIAA1462 57608 broad.mit.edu 37 10 30315636 30315636 + Silent SNP G G T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr10:30315636G>T ENST00000375377.1 - 3 3542 c.3441C>A c.(3439-3441)ggC>ggA p.G1147G NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 1147 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 ACTTCCTCCTGCCATAAAAGG 0.617000 33 94 1.66425e-11 2.48797e-11 0.074837 1 0 NOTCH2 4853 broad.mit.edu 37 1 120466412 120466412 + Silent SNP C C A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr1:120466412C>A ENST00000256646.2 - 26 4926 c.4707G>T c.(4705-4707)ctG>ctT p.L1569L NOTCH2_ENST00000493703.1_5'UTR NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 1569 Negative regulatory region (NRR). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) GCAGGGTACCCAGTGCCCGCA 0.542000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 14 39 1.5842e-08 2.23297e-08 0.105934 1 0 ZDHHC11 79844 broad.mit.edu 37 5 843743 843743 + Silent SNP C C A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr5:843743C>A ENST00000283441.8 - 4 983 c.600G>T c.(598-600)ggG>ggT p.G200G ZDHHC11_ENST00000424784.2_Silent_p.G200G|ZDHHC11_ENST00000511539.1_5'UTR NM_024786.2 NP_079062.1 Q9H8X9 ZDH11_HUMAN zinc finger, DHHC-type containing 11 200 integral to membrane acyltransferase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1) 21 Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) TGCGGAGCACCCCGGGGTTCA 0.632000 7 30 0.000442599 0.000511756 0.058154 1 0 OR5W2 390148 broad.mit.edu 37 11 55681285 55681285 + Missense_Mutation SNP C C T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr11:55681285C>T ENST00000344514.1 - 1 773 c.774G>A c.(772-774)atG>atA p.M258I NM_001001960.1 NP_001001960.1 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, member 2 258 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 GCCGGAAATACATAAAGAGCA 0.443000 38 62 0 0 0.117977 0 0 CTNND2 1501 broad.mit.edu 37 5 11236884 11236884 + Missense_Mutation SNP C C A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr5:11236884C>A ENST00000304623.8 - 10 1869 c.1680G>T c.(1678-1680)caG>caT p.Q560H CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.Q223H|CTNND2_ENST00000511377.1_Missense_Mutation_p.Q469H|CTNND2_ENST00000359640.2_Missense_Mutation_p.Q560H|CTNND2_ENST00000458100.2_Missense_Mutation_p.Q127H NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 560 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 GAAACTGGTGCTGCAACATCT 0.488000 48 155 3.07002e-29 5.13404e-29 0.139131 1 0 DYNC2H1 79659 broad.mit.edu 37 11 103090682 103090682 + Silent SNP G G A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr11:103090682G>A ENST00000375735.2 + 56 9015 c.8871G>A c.(8869-8871)aaG>aaA p.K2957K DYNC2H1_ENST00000398093.3_Silent_p.K2957K|DYNC2H1_ENST00000334267.7_Intron NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 2957 Stalk (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) AAAGACTGAAGCACAGAATAG 0.269000 8 14 0 0 0.080935 0 0 SPTAN1 6709 broad.mit.edu 37 9 131348057 131348057 + Missense_Mutation SNP A A G TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr9:131348057A>G ENST00000372739.3 + 19 2701 c.2591A>G c.(2590-2592)aAg>aGg p.K864R SPTAN1_ENST00000372731.4_Missense_Mutation_p.K864R|SPTAN1_ENST00000358161.5_Missense_Mutation_p.K864R NM_001130438.2 NP_001123910.1 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 864 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 GTGAAGGCCAAGCTTCACGAG 0.502000 44 104 0 0 0.139131 0 0 XYLT1 64131 broad.mit.edu 37 16 17294464 17294464 + Missense_Mutation SNP T T A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr16:17294464T>A ENST00000261381.6 - 4 1045 c.961A>T c.(961-963)Atg>Ttg p.M321L NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 321 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 TTGGCTGGCATGTACTCCACG 0.557000 77 169 0 0 0.139131 0 0 IGSF9 57549 broad.mit.edu 37 1 159912758 159912758 + Missense_Mutation SNP T T A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr1:159912758T>A ENST00000368094.1 - 3 439 c.242A>T c.(241-243)tAc>tTc p.Y81F IGSF9_ENST00000361509.3_Missense_Mutation_p.Y81F NM_001135050.1 NP_001128522.1 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 81 Ig-like 1. cell junction|integral to membrane|synapse central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) CTTACCCACGTAATCAGGGTC 0.577000 20 31 0 0 0.069288 0 0 MGEA5 10724 broad.mit.edu 37 10 103550754 103550754 + Missense_Mutation SNP C C A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr10:103550754C>A ENST00000361464.3 - 14 2748 c.2353G>T c.(2353-2355)Gat>Tat p.D785Y MGEA5_ENST00000439817.1_Missense_Mutation_p.D732Y|MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000357797.5_Missense_Mutation_p.D718Y NM_012215.3 NP_036347.1 O60502 NCOAT_HUMAN meningioma expressed antigen 5 (hyaluronidase) 785 Histone acetyltransferase activity (By similarity).|Required for histone H4 binding (By similarity). glycoprotein catabolic process cytoplasm|nucleus histone acetyltransferase activity|hyalurononglucosaminidase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 23 Colorectal(252;0.207) Epithelial(162;4.67e-09)|all cancers(201;2.54e-07) GGGGTCACATCTACAGTGCCC 0.458000 12 39 2.27111e-07 3.00111e-07 0.093190 1 0 BMP15 9210 broad.mit.edu 37 X 50658984 50658984 + Missense_Mutation SNP A A G TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chrX:50658984A>G ENST00000252677.3 + 2 556 c.556A>G c.(556-558)Atc>Gtc p.I186V NM_005448.2 NP_005439.2 O95972 BMP15_HUMAN bone morphogenetic protein 15 186 female gamete generation|granulosa cell development|ovarian follicle development extracellular space cytokine activity|growth factor activity NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1) 26 Ovarian(276;0.236) AGAGATGGATATCACACAACT 0.468000 17 76 0 0 0.033300 0 0 SCAF4 57466 broad.mit.edu 37 21 33073388 33073388 + Nonsense_Mutation SNP G G A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr21:33073388G>A ENST00000286835.7 - 7 1079 c.697C>T c.(697-699)Cag>Tag p.Q233* SCAF4_ENST00000434667.3_Nonsense_Mutation_p.Q218*|SCAF4_ENST00000399804.1_Nonsense_Mutation_p.Q233* NM_020706.2 NP_065757.1 O95104 SFR15_HUMAN SR-related CTD-associated factor 4 233 nucleus nucleotide binding|RNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 GTCTTTAACTGAGCTGTGATA 0.448000 18 40 0 0 0.033300 0 0 GRIK2 2898 broad.mit.edu 37 6 102503456 102503456 + Splice_Site SNP G G A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr6:102503456G>A ENST00000369138.1 + 15 3052 c.e15+1 GRIK2_ENST00000413795.1_Splice_Site|GRIK2_ENST00000369134.4_Splice_Site|GRIK2_ENST00000421544.1_Splice_Site|GRIK2_ENST00000369137.3_Splice_Site|GRIK2_ENST00000318991.6_Splice_Site NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) ATTGGAAAAGGTAAATGTTAC 0.318000 6 77 0 0 0.029380 0 0 MYO1D 4642 broad.mit.edu 37 17 31107692 31107692 + Missense_Mutation SNP C C A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr17:31107692C>A ENST00000318217.5 - 2 510 c.206G>T c.(205-207)cGt>cTt p.R69L MYO1D_ENST00000394649.4_5'UTR|MYO1D_ENST00000583621.1_Missense_Mutation_p.R69L|MYO1D_ENST00000579584.1_Missense_Mutation_p.R69L NM_015194.1 NP_056009.1 O94832 MYO1D_HUMAN myosin ID 69 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(9;0.0362) ATACAGCTCACGGCCTTTATA 0.448000 12 47 3.07112e-06 3.85191e-06 0.080935 1 0 TRPC5 7224 broad.mit.edu 37 X 111024416 111024416 + Silent SNP G G A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chrX:111024416G>A ENST00000262839.2 - 9 3037 c.2119C>T c.(2119-2121)Ctg>Ttg p.L707L NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 707 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 TTTTGTATCAGGCTGTCAGCA 0.423000 3 96 0 0 0.009096 0 0 WNT2B 7482 broad.mit.edu 37 1 113033704 113033704 + Splice_Site SNP G G T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr1:113033704G>T ENST00000369686.4 + 2 229 c.e2+1 WNT2B_ENST00000256640.5_Intron NM_004185.3 NP_004176.2 Q93097 WNT2B_HUMAN wingless-type MMTV integration site family, member 2B chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1) 18 Lung SC(450;0.246) all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) gtttgCAAAGGTACATGATAA 0.458000 3 11 0.014758 0.015885 0.014758 1 0 HIST2H2BA 337875 broad.mit.edu 37 1 120906203 120906203 + RNA SNP G G A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr1:120906203G>A ENST00000430394.1 + 0 176 NR_027337.1 CCCGACACCGGCATCTCGTCC 0.612000 5 246 0 0 0.014758 0 0 RP2 6102 broad.mit.edu 37 X 46713151 46713151 + Missense_Mutation SNP C C A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chrX:46713151C>A ENST00000218340.3 + 2 504 c.343C>A c.(343-345)Caa>Aaa p.Q115K NM_006915.2 NP_008846.2 O75695 XRP2_HUMAN retinitis pigmentosa 2 (X-linked recessive) 115 C-CAP/cofactor C-like. cell morphogenesis|CTP biosynthetic process|GTP biosynthetic process|protein folding|UTP biosynthetic process|visual perception cytoplasm|plasma membrane ATP binding|GTP binding|GTPase activator activity|nucleoside diphosphate kinase activity|unfolded protein binding NS(1)|large_intestine(4)|lung(5)|stomach(1) 11 ATTAGCCTGCCAACAATTTCG 0.418000 8 80 1.58986e-06 2.01111e-06 0.069234 1 0 ABCG8 64241 broad.mit.edu 37 2 44071702 44071702 + Nonsense_Mutation SNP C C G TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr2:44071702C>G ENST00000272286.2 + 2 210 c.120C>G c.(118-120)taC>taG p.Y40* NM_022437.2 NP_071882.1 Q9H221 ABCG8_HUMAN ATP-binding cassette, sub-family G (WHITE), member 8 40 cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) ACTTCACCTACAGTGGCCAGC 0.567000 10 47 0 0 0.069234 0 0 MAGEB4 4115 broad.mit.edu 37 X 30260301 30260301 + Silent SNP C C A rs148486223 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chrX:30260301C>A ENST00000378982.2 + 1 245 c.49C>A c.(49-51)Cgg>Agg p.R17R NM_002367.3 NP_002358.1 O15481 MAGB4_HUMAN melanoma antigen family B, 4 17 breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 GAAACGCCAGCGGACCCGTGG 0.567000 9 45 4.68919e-08 6.36697e-08 0.069234 1 0 TP53 7157 broad.mit.edu 37 17 7578550 7578550 + Missense_Mutation SNP G G A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr17:7578550G>A ENST00000420246.2 - 5 512 c.380C>T c.(379-381)tCc>tTc p.S127F TP53_ENST00000359597.4_Missense_Mutation_p.S127F|TP53_ENST00000269305.4_Missense_Mutation_p.S127F|TP53_ENST00000445888.2_Missense_Mutation_p.S127F|TP53_ENST00000413465.2_Missense_Mutation_p.S127F|TP53_ENST00000455263.2_Missense_Mutation_p.S127F NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 127 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.S127F(23)|p.0?(8)|p.S127Y(8)|p.S127C(7)|p.Y126_K132delYSPALNK(6)|p.A129fs*20(3)|p.Y126_N131delYSPALN(3)|p.S34C(2)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S34F(1)|p.A36fs*20(1)|p.S127fs*42(1)|p.Y126fs*18(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GAGGGCAGGGGAGTACTGTAG 0.552000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 16 34 0 0 0.049695 0 0 ESRRB 2103 broad.mit.edu 37 14 76966353 76966353 + Missense_Mutation SNP C C A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr14:76966353C>A ENST00000380887.2 + 8 1516 c.1444C>A c.(1444-1446)Ccc>Acc p.P482T RP11-187O7.3_ENST00000554926.1_lincRNA|ESRRB_ENST00000509242.1_Missense_Mutation_p.P482T|ESRRB_ENST00000261532.7_3'UTR A2VDJ2 A2VDJ2_HUMAN estrogen-related receptor beta 482 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(234;0.0213) TAGTCCAACCCCCCTCAATGA 0.567000 9 16 7.48243e-07 9.67161e-07 0.058154 1 0 CLVS2 134829 broad.mit.edu 37 6 123319300 123319300 + Nonsense_Mutation SNP G G A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr6:123319300G>A ENST00000275162.4 + 2 1713 c.378G>A c.(376-378)tgG>tgA p.W126* CLVS2_ENST00000368438.1_Intron NM_001010852.2 NP_001010852.2 Q5SYC1 CLVS2_HUMAN clavesin 2 126 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity p.W126C(2) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 40 CTGCCAATTGGGATCAGAGCA 0.468000 19 59 0 0 0.038395 0 0 MUC17 140453 broad.mit.edu 37 7 100683857 100683857 + Missense_Mutation SNP A A G TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr7:100683857A>G ENST00000306151.4 + 3 9224 c.9160A>G c.(9160-9162)Agc>Ggc p.S3054G NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3054 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TATACCTGTCAGCACCACGCC 0.488000 46 132 0 0 0.139131 0 0 XPO7 23039 broad.mit.edu 37 8 21860756 21860756 + Silent SNP C C T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr8:21860756C>T ENST00000434536.1 + 26 3099 c.2997C>T c.(2995-2997)atC>atT p.I999I XPO7_ENST00000433566.4_Silent_p.I991I|XPO7_ENST00000252512.9_Silent_p.I990I Q9UIA9 XPO7_HUMAN exportin 7 990 mRNA transport|protein export from nucleus|transmembrane transport cytoplasm|nuclear pore nuclear export signal receptor activity|protein transporter activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) TGAACATCATCATCTTTGAAG 0.448000 7 11 0 0 0.058154 0 0 AADAC 13 broad.mit.edu 37 3 151545721 151545721 + Missense_Mutation SNP C C T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr3:151545721C>T ENST00000232892.6 + 5 1087 c.961C>T c.(961-963)Cct>Tct p.P321S RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA NM_001086.2 NP_001077.2 P22760 AAAD_HUMAN arylacetamide deacetylase 321 positive regulation of triglyceride catabolic process endoplasmic reticulum membrane|integral to membrane|microsome carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2) 19 Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112) LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) GAGGGCAGCCCCTTTGTTGGC 0.423000 36 41 0 0 0.069456 0 0 ANGEL1 23357 broad.mit.edu 37 14 77272897 77272897 + Silent SNP C C A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr14:77272897C>A ENST00000251089.2 - 5 1354 c.1242G>T c.(1240-1242)gtG>gtT p.V414V NM_015305.3 NP_056120.2 Q9UNK9 ANGE1_HUMAN angel homolog 1 (Drosophila) 414 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 22 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0285) CCACCTTGTCCACTTCCGCCA 0.572000 16 38 1.99824e-07 2.65237e-07 0.033300 1 0 EXOC4 60412 broad.mit.edu 37 7 133059673 133059673 + Missense_Mutation SNP G G T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr7:133059673G>T ENST00000253861.4 + 7 1128 c.1099G>T c.(1099-1101)Gta>Tta p.V367L EXOC4_ENST00000539845.1_Missense_Mutation_p.V266L|EXOC4_ENST00000393161.2_Missense_Mutation_p.V367L NM_021807.3 NP_068579.3 Q96A65 EXOC4_HUMAN exocyst complex component 4 367 vesicle docking involved in exocytosis exocyst protein N-terminus binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 50 Esophageal squamous(399;0.129) GCAGGACACTGTAGTGACTCC 0.458000 9 28 0.000274275 0.000318374 0.047766 1 0 ZNF645 158506 broad.mit.edu 37 X 22291637 22291637 + Missense_Mutation SNP C C A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chrX:22291637C>A ENST00000323684.1 + 1 573 c.529C>A c.(529-531)Cta>Ata p.L177I NM_152577.3 NP_689790.1 Q8N7E2 ZN645_HUMAN zinc finger protein 645 177 intracellular zinc ion binding cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1) 27 CAGGGACCATCTAAGCTATAT 0.458000 26 225 0.00127121 0.00143618 0.125774 1 0 CHRM1 1128 broad.mit.edu 37 11 62677713 62677713 + Missense_Mutation SNP G G T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr11:62677713G>T ENST00000306960.3 - 2 1401 c.860C>A c.(859-861)tCc>tAc p.S287Y AP000438.2_ENST00000543624.1_RNA NM_000738.2 NP_000729.2 P11229 ACM1_HUMAN cholinergic receptor, muscarinic 1 287 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding large_intestine(5)|lung(3)|stomach(1) 9 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209) GGATGTGAGGGACTCCATGGA 0.652000 46 86 1.32667e-27 2.20615e-27 0.139131 1 0 SMARCA1 6594 broad.mit.edu 37 X 128649931 128649931 + Missense_Mutation SNP G G C TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chrX:128649931G>C ENST00000371122.4 - 4 598 c.469C>G c.(469-471)Cta>Gta p.L157V SMARCA1_ENST00000478420.1_5'UTR|SMARCA1_ENST00000371121.3_Missense_Mutation_p.L157V|SMARCA1_ENST00000371123.1_Missense_Mutation_p.L157V NM_003069.3 NP_003060.2 P28370 SMCA1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 157 ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1) 45 TCAGACAGTAGCTCTTCATCT 0.363000 20 57 0 0 0.091800 0 0 AKAP4 8852 broad.mit.edu 37 X 49957154 49957154 + Missense_Mutation SNP C C A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chrX:49957154C>A ENST00000376056.2 - 5 2333 c.2183G>T c.(2182-2184)aGg>aTg p.R728M AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Missense_Mutation_p.R737M|AKAP4_ENST00000376058.2_Missense_Mutation_p.R354M|AKAP4_ENST00000376064.3_Missense_Mutation_p.R728M Q5JQC9 AKAP4_HUMAN A kinase (PRKA) anchor protein 4 737 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4) 41 Ovarian(276;0.236) TCTGGTGCCCCTGAAATTGGG 0.463000 3 67 0.115264 0.121417 0.115264 1 0 ADNP 23394 broad.mit.edu 37 20 49518564 49518564 + Missense_Mutation SNP G G C TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr20:49518564G>C ENST00000396029.3 - 4 758 c.191C>G c.(190-192)aCg>aGg p.T64R ADNP_ENST00000349014.3_Missense_Mutation_p.T64R|ADNP_ENST00000396032.3_Missense_Mutation_p.T64R|ADNP_ENST00000371602.4_Missense_Mutation_p.T64R NM_015339.2 NP_056154.1 Q9H2P0 ADNP_HUMAN activity-dependent neuroprotector homeobox 64 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2) 39 CTGGTTTTTCGTAAGTGATGG 0.418000 26 75 0 0 0.054565 0 0 EGF 1950 broad.mit.edu 37 4 110902110 110902110 + Missense_Mutation SNP G G T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr4:110902110G>T ENST00000265171.5 + 15 2795 c.2350G>T c.(2350-2352)Gat>Tat p.D784Y EGF_ENST00000503392.1_Missense_Mutation_p.D784Y|EGF_ENST00000509793.1_Missense_Mutation_p.D742Y NM_001178130.1|NM_001963.4 NP_001171601.1|NP_001954.2 P01133 EGF_HUMAN epidermal growth factor 784 D -> V (in dbSNP:rs11569017). angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) TCTGGCTCTGGATGGTCATCA 0.413000 45 126 7.88023e-25 1.3031e-24 0.139131 1 0 SPATA19 219938 broad.mit.edu 37 11 133715076 133715076 + Missense_Mutation SNP C C A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr11:133715076C>A ENST00000299140.3 - 2 142 c.88G>T c.(88-90)Gtt>Ttt p.V30F SPATA19_ENST00000532889.1_Missense_Mutation_p.V30F NM_174927.1 NP_777587.1 Q7Z5L4 SPT19_HUMAN spermatogenesis associated 19 30 cell differentiation|multicellular organismal development|spermatogenesis mitochondrial outer membrane cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1) 11 all_hematologic(175;0.127) all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117) Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207) CTTTCCACAACGTCAATGTCC 0.418000 11 31 5.50884e-06 6.85133e-06 0.093190 1 0 ZNF804A 91752 broad.mit.edu 37 2 185798372 185798372 + Missense_Mutation SNP G G T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr2:185798372G>T ENST00000302277.6 + 3 892 c.298G>T c.(298-300)Gca>Tca p.A100S NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 100 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 TCGAAATGTAGCATCTAAATC 0.373000 13 42 3.27435e-08 4.4664e-08 0.119110 1 0 DUOX2 50506 broad.mit.edu 37 15 45388110 45388110 + Missense_Mutation SNP G G T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr15:45388110G>T ENST00000389039.6 - 30 4381 c.3996C>A c.(3994-3996)caC>caA p.H1332Q DUOX2_ENST00000603300.1_Missense_Mutation_p.H1332Q Q9NRD8 DUOX2_HUMAN dual oxidase 2 1332 FAD-binding FR-type. cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) CTGCCCGGATGTGCAGGCTGA 0.642000 12 66 1.61879e-10 2.38389e-10 0.093190 1 0 CHST1 8534 broad.mit.edu 37 11 45671313 45671313 + Silent SNP G G A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr11:45671313G>A ENST00000308064.2 - 4 1831 c.1161C>T c.(1159-1161)atC>atT p.I387I NM_003654.5 NP_003645.1 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 387 galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) CCGAGGCGGCGATCTTGTAGC 0.701000 6 42 0 0 0.029380 0 0 APOB 338 broad.mit.edu 37 2 21255315 21255315 + Silent SNP G G C TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr2:21255315G>C ENST00000233242.1 - 10 1390 c.1263C>G c.(1261-1263)ccC>ccG p.P421P APOB_ENST00000399256.4_Silent_p.P421P NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 421 Vitellogenin. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GCTGTGCTGAGGGCTCGGGGA 0.587000 36 97 0 0 0.080422 0 0 FAM149A 25854 broad.mit.edu 37 4 187088124 187088124 + Nonsense_Mutation SNP C C G TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr4:187088124C>G ENST00000356371.5 + 12 2040 c.2040C>G c.(2038-2040)taC>taG p.Y680* FAM149A_ENST00000502970.1_Nonsense_Mutation_p.Y389*|FAM149A_ENST00000227065.4_Nonsense_Mutation_p.Y389*|FAM149A_ENST00000503432.1_Nonsense_Mutation_p.Y389*|FAM149A_ENST00000514153.1_Nonsense_Mutation_p.Y389*|FAM149A_ENST00000389354.5_Nonsense_Mutation_p.Y389* A5PLN7 F149A_HUMAN family with sequence similarity 149, member A 680 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2) 25 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166) TCATTTAGTACAGAGGAAGGC 0.413000 5 33 0 0 0.021553 0 0 FDPS 2224 broad.mit.edu 37 1 155289625 155289625 + Missense_Mutation SNP G G A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr1:155289625G>A ENST00000356657.6 + 10 1127 c.965G>A c.(964-966)gGc>gAc p.G322D RUSC1-AS1_ENST00000543656.1_RNA|FDPS_ENST00000368356.4_Missense_Mutation_p.G322D|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000446880.1_RNA|FDPS_ENST00000447866.1_Missense_Mutation_p.G256D NM_001135821.1 NP_001129293.1 P14324 FPPS_HUMAN farnesyl diphosphate synthase 322 cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process cytosol|nucleus dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 10 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399) AGTGTGACCGGCAAAATTGGC 0.567000 7 769 0 0 0.029380 0 0 RP1-37J18.2 0 broad.mit.edu 37 1 4634683 4634684 + RNA INS - - G TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr1:4634683_4634684insG ENST00000420522.1 + 0 205 agagagtgtgtgggggggtgag 0.480 2 4 --- --- --- --- STPG1 90529 broad.mit.edu 37 1 24718090 24718090 + Frame_Shift_Del DEL T T - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr1:24718090delT ENST00000374409.1 - 3 404 c.150delA c.(148-150)aafs p.K50fs STPG1_ENST00000003583.8_Intron|STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000337248.4_Frame_Shift_Del_p.K50fs|STPG1_ENST00000440416.1_Intron NM_001199012.1 NP_001185941.1 sperm-tail PG-rich repeat containing 1 TATTGAATCCTTTTTTTTCTG 0.388 OREG0013240 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- ADC 113451 broad.mit.edu 37 1 33583668 33583669 + Frame_Shift_Ins INS - - G TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr1:33583668_33583669insG ENST00000294517.6 + 11 1782_1783 c.1195_1196insG c.(1195-1197)gggfs p.G399fs ADC_ENST00000398167.1_Frame_Shift_Ins_p.G419fs|ADC_ENST00000373443.3_Frame_Shift_Ins_p.G399fs|ADC_ENST00000373441.1_Frame_Shift_Ins_p.G419fs|ADC_ENST00000484656.1_3'UTR NM_052998.2 NP_443724.1 Q96A70 ADC_HUMAN arginine decarboxylase 399 polyamine biosynthetic process|spermatogenesis cytosol arginine decarboxylase activity NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114) TTCCCCCTTTTGGGGGACCCAG 0.619 13 44 --- --- --- --- RP11-466L17.1 0 broad.mit.edu 37 1 56112360 56112361 + RNA DEL AC AC - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr1:56112360_56112361delAC ENST00000422374.1 + 0 240 aaaaaaaaagacaaacttcaaa 0.277 3 4 --- --- --- --- LOC101926964 101926964 broad.mit.edu 37 1 61281964 61281965 + RNA INS - - CA rs77445074 by1000genomes TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr1:61281964_61281965insCA ENST00000423403.1 - 0 249 acacacacactcacacacacac 0.406 3 6 --- --- --- --- USP33 23032 broad.mit.edu 37 1 78204952 78204952 + Frame_Shift_Del DEL G G - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr1:78204952delG ENST00000370793.1 - 6 788 c.442delC c.(442-444)agfs p.Q148fs USP33_ENST00000370792.3_Frame_Shift_Del_p.Q148fs|USP33_ENST00000357428.1_Frame_Shift_Del_p.Q148fs|USP33_ENST00000370794.3_Frame_Shift_Del_p.Q117fs NM_015017.4 NP_055832.3 Q8TEY7 UBP33_HUMAN ubiquitin specific peptidase 33 148 axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|VCB complex cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 44 ATTATTACCTGGACACTGTTT 0.348 14 52 --- --- --- --- LOC101927587 101927587 broad.mit.edu 37 1 84155364 84155364 + RNA DEL A A - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr1:84155364delA ENST00000417975.1 - 0 280 ggcctttgggaagtaattagg 0.512 2 4 --- --- --- --- RP4-651E10.4 0 broad.mit.edu 37 1 87051400 87051401 + RNA INS - - TCTC rs10632360 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr1:87051400_87051401insTCTC ENST00000456587.1 - 0 294 ctctctctctgtctctctctct 0.480 3 5 --- --- --- --- LINC01307 104355286 broad.mit.edu 37 1 101833606 101833607 + RNA INS - - C TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr1:101833606_101833607insC ENST00000444327.1 + 0 137 AGATGCTCCCGCCCCCTCCAAA 0.426 2 4 --- --- --- --- RP11-439A17.10 0 broad.mit.edu 37 1 120917198 120917198 + RNA DEL T T - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr1:120917198delT ENST00000426275.1 + 0 75 TAATGTTTCCTACTAATAAAC 0.318 3 3 --- --- --- --- LOC101928979 101928979 broad.mit.edu 37 1 145380919 145380921 + RNA DEL CTT CTT - rs55940905 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr1:145380919_145380921delCTT ENST00000419817.1 - 0 307 aaatactgtgcttttttccactg 0.552 3 4 --- --- --- --- LOC101928009 101928009 broad.mit.edu 37 1 153157816 153157816 + RNA DEL T T - rs71093263 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr1:153157816delT ENST00000427145.1 + 0 656 ggtcctgggcttttttttttt 0.393 3 4 --- --- --- --- CRTC2 200186 broad.mit.edu 37 1 153924672 153924673 + Frame_Shift_Ins INS - - C TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr1:153924672_153924673insC ENST00000368633.1 - 10 945_946 c.818_819insG c.(817-819)gtcfs p.V273fs CRTC2_ENST00000368630.3_Intron NM_181715.2 NP_859066.1 Q53ET0 CRTC2_HUMAN CREB regulated transcription coactivator 2 273 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 27 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CAGGTAGGGAGCCCCCCGTGTT 0.574 7 287 --- --- --- --- LOC646268 646268 broad.mit.edu 37 1 158105263 158105263 + RNA DEL A A - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr1:158105263delA ENST00000414848.1 - 0 142 NR_033946.1 CCTTTGGCCTAAGGGAttctt 0.423 2 4 --- --- --- --- RP11-297H3.3 0 broad.mit.edu 37 1 170183980 170183981 + RNA DEL CA CA - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr1:170183980_170183981delCA ENST00000439184.1 + 0 304 gtctctctgtcacacacacaca 0.465 3 6 --- --- --- --- LINC01115 339822 broad.mit.edu 37 2 838323 838323 + RNA DEL G G - rs67101877 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr2:838323delG ENST00000414556.1 - 0 548 NR_033880.1 GCTCCTGCAAGGGCGCAGTGG 0.602 4 2 --- --- --- --- LINC01250 101927554 broad.mit.edu 37 2 2956399 2956400 + RNA INS - - AGAC rs58498291 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr2:2956399_2956400insAGAC ENST00000457478.1 - 0 594 AAGGGAGagagagacagacaga 0.436 4 4 --- --- --- --- LINC01304 100505964 broad.mit.edu 37 2 4019609 4019610 + RNA INS - - TGTG rs55907324 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr2:4019609_4019610insTGTG ENST00000454455.1 - 0 526 NR_037881.1 tgagtgtgtgttgtgtgtgtgt 0.475 4 7 --- --- --- --- LOC400940 400940 broad.mit.edu 37 2 6097038 6097038 + RNA DEL T T - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr2:6097038delT ENST00000431188.1 + 0 134 ccagtgtttcttttttttttt 0.363 3 3 --- --- --- --- ID2-AS1 100506299 broad.mit.edu 37 2 8808487 8808487 + RNA DEL T T - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr2:8808487delT ENST00000412712.1 - 0 801 aagggatgaatggaaggaagg 0.478 2 4 --- --- --- --- AC099344.2 0 broad.mit.edu 37 2 11499077 11499078 + RNA DEL TT TT - rs59829548 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr2:11499077_11499078delTT ENST00000430897.1 - 0 539 tctttctttctttttttttttt 0.411 3 3 --- --- --- --- LOC100506457 100506457 broad.mit.edu 37 2 12149867 12149868 + RNA DEL CT CT - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr2:12149867_12149868delCT ENST00000412294.1 + 0 197 CTCCCAGTCCCTCTCTCTCTGC 0.421 2 4 --- --- --- --- HS1BP3 64342 broad.mit.edu 37 2 20840863 20840864 + Frame_Shift_Ins INS - - G rs77941615 byFrequency TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr2:20840863_20840864insG ENST00000402541.1 - 3 289_290 c.275_276insC c.(274-276)cctfs p.P92fs HS1BP3_ENST00000304031.3_Frame_Shift_Ins_p.P92fs|HS1BP3_ENST00000406618.3_Frame_Shift_Ins_p.P92fs Q53T59 H1BP3_HUMAN HCLS1 binding protein 3 92 PX. cell communication phosphatidylinositol binding endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 15 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCCTGGGTAGTGGGGGGAGGCT 0.540 8 295 --- --- --- --- AC067959.1 0 broad.mit.edu 37 2 21447434 21447435 + RNA INS - - T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr2:21447434_21447435insT ENST00000457901.1 + 0 110 TATGATTTCTATTTTTTGTAAG 0.322 2 4 --- --- --- --- LINC01317 104355287 broad.mit.edu 37 2 34057011 34057011 + RNA DEL C C - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr2:34057011delC ENST00000366209.2 + 0 68 ccaactaggtctaaggataga 0.353 4 3 --- --- --- --- CYP1B1-AS1 285154 broad.mit.edu 37 2 38399375 38399386 + RNA DEL AGCCTCTTCTTC AGCCTCTTCTTC - rs113879879 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr2:38399375_38399386delAGCCTCTTCTTC ENST00000413828.2 + 0 190 NR_027252.1 TGCTTACCTAAGCCTCTTCTTCAGCCTCTTCT 0.448 2 4 --- --- --- --- AC009229.5 0 broad.mit.edu 37 2 38445152 38445153 + RNA INS - - CTTC rs113722114 by1000genomes TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr2:38445152_38445153insCTTC ENST00000450854.1 - 0 533 TTTTGCCCTGTCTTATGATTCA 0.455 3 5 --- --- --- --- SLC8A1-AS1 100128590 broad.mit.edu 37 2 40077829 40077830 + RNA INS - - ATAA rs3032305 by1000genomes TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr2:40077829_40077830insATAA ENST00000599740.1 + 0 73 agtaagaatgtataaatgttct 0.252 3 3 --- --- --- --- LOC730100 730100 broad.mit.edu 37 2 51709054 51709054 + RNA DEL T T - rs34731070 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr2:51709054delT ENST00000440698.1 + 0 694 CCTCTGCTACttttttttttt 0.378 4 3 --- --- --- --- LOC730100 730100 broad.mit.edu 37 2 51802039 51802040 + RNA INS - - A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr2:51802039_51802040insA ENST00000440698.1 + 0 753 tttcattgggtaaaaaatctga 0.356 2 4 --- --- --- --- LOC730100 730100 broad.mit.edu 37 2 52591079 52591079 + RNA DEL C C - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr2:52591079delC ENST00000440698.1 + 0 2999 tttgacaagtccctttttcct 0.323 2 4 --- --- --- --- RP11-444A22.1 0 broad.mit.edu 37 2 60155791 60155792 + RNA INS - - CCA rs149876856 by1000genomes TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr2:60155791_60155792insCCA ENST00000606382.1 - 0 110 tccctcaatttcaacaagcttg 0.376 4 5 --- --- --- --- RP11-444A22.1 0 broad.mit.edu 37 2 60232626 60232627 + RNA INS - - T rs71883693 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr2:60232626_60232627insT ENST00000606382.1 - 0 110 atcctagccacttttttttttt 0.381 4 2 --- --- --- --- AC022201.4 0 broad.mit.edu 37 2 70640225 70640227 + RNA DEL AGA AGA - rs72540727 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr2:70640225_70640227delAGA ENST00000452525.1 + 0 203 GGAGGTGGGGAGAAGGACACCTG 0.542 4 6 --- --- --- --- AC027612.3 0 broad.mit.edu 37 2 91898831 91898831 + RNA DEL A A - rs79527766 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr2:91898831delA ENST00000436174.1 - 0 168 cctgtctcagaaaaaaaaaaa 0.423 2 4 --- --- --- --- AFF3 3899 broad.mit.edu 37 2 100210335 100210340 + In_Frame_Del DEL GGCTGA GGCTGA - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr2:100210335_100210340delGGCTGA ENST00000317233.4 - 14 2018_2023 c.1783_1788delTCAGCC c.(1783-1788)del p.SA595del AFF3_ENST00000409579.1_In_Frame_Del_p.SA620del|AFF3_ENST00000409236.1_In_Frame_Del_p.SA595del|AFF3_ENST00000356421.2_In_Frame_Del_p.SA620del NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 595 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 CGCCGTCCCCGGCTGAGGTCCTCTCG 0.782 4 7 --- --- --- --- AC097532.2 0 broad.mit.edu 37 2 133050244 133050245 + RNA DEL TG TG - rs8179688 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr2:133050244_133050245delTG ENST00000440802.1 - 0 60 gttttctggctgtttttttttt 0.297 3 5 --- --- --- --- AC092684.1 0 broad.mit.edu 37 2 164921908 164921909 + RNA INS - - G TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr2:164921908_164921909insG ENST00000429636.1 - 0 196 GGGGTGGAGTTGGGGGGGAAAG 0.475 2 4 --- --- --- --- HAGLR 401022 broad.mit.edu 37 2 177053045 177053046 + RNA INS - - C TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr2:177053045_177053046insC ENST00000417086.1 - 0 122 HOXD-AS1_ENST00000452365.1_RNA|HOXD-AS1_ENST00000425005.1_RNA|HOXD-AS1_ENST00000413969.1_RNA CGAGGGACTAGCCCCCCCCACG 0.673 3 3 --- --- --- --- AC079305.11 0 broad.mit.edu 37 2 177895009 177895010 + RNA INS - - GT rs143327095 by1000genomes TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr2:177895009_177895010insGT ENST00000441205.1 - 0 370 CATGTGCGCAAgtgtgtgtgtg 0.455 6 5 --- --- --- --- AC007563.5 0 broad.mit.edu 37 2 217687448 217687448 + RNA DEL T T - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr2:217687448delT ENST00000447289.1 + 0 510 ccagcttgaattttttttttt 0.428 3 3 --- --- --- --- TNS1 7145 broad.mit.edu 37 2 218844252 218844255 + RNA DEL ACAC ACAC - rs67336490 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr2:218844252_218844255delACAC ENST00000450996.1 + 0 138 AAacacacagacacacacacacac 0.480 7 0 --- --- --- --- AC009410.1 0 broad.mit.edu 37 2 229415045 229415046 + RNA INS - - C TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr2:229415045_229415046insC ENST00000432481.2 - 0 144 AAGAATTAATACCCCCCCCTCC 0.356 2 4 --- --- --- --- LINC01237 101927289 broad.mit.edu 37 2 242967743 242967743 + RNA DEL T T - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr2:242967743delT ENST00000415434.1 + 0 310 AC093642.4_ENST00000412193.1_lincRNA ggagctgatgttggggaagta 0.498 2 4 --- --- --- --- LINC01266 101927215 broad.mit.edu 37 3 653707 653708 + RNA INS - - A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr3:653707_653708insA ENST00000420823.1 + 0 176 ttggtagcttgaaggggatggc 0.391 4 5 --- --- --- --- AC026188.1 0 broad.mit.edu 37 3 3504465 3504466 + RNA INS - - GGG rs66764310 by1000genomes TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr3:3504465_3504466insGGG ENST00000455703.1 - 0 59 CTAAGtttattggagagtctcc 0.361 3 3 --- --- --- --- AC098973.2 0 broad.mit.edu 37 3 27886375 27886375 + RNA DEL T T - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr3:27886375delT ENST00000414382.1 + 0 336 aatgtgactcttttaatttct 0.294 2 4 --- --- --- --- CTD-2185K10.1 0 broad.mit.edu 37 3 59082388 59082389 + RNA INS - - C TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr3:59082388_59082389insC ENST00000487624.1 + 0 117 tccctccccttccccccaacaa 0.480 2 4 --- --- --- --- PTPRG-AS1 100506994 broad.mit.edu 37 3 62341655 62341656 + RNA DEL AG AG - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr3:62341655_62341656delAG ENST00000490916.1 - 0 135 PTPRG-AS1_ENST00000495542.1_RNA caaaacatgcagagagagagag 0.460 3 3 --- --- --- --- SUCLG2-AS1 101927111 broad.mit.edu 37 3 67956776 67956776 + RNA DEL A A - rs11359356 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr3:67956776delA ENST00000482677.1 + 0 1653 CATAAAAAGGAAAAAAAAAAA 0.398 2 4 --- --- --- --- RP11-260O18.1 0 broad.mit.edu 37 3 82292115 82292115 + RNA DEL T T - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr3:82292115delT ENST00000470263.1 + 0 472 ttatgcaagattttttttttt 0.408 3 3 --- --- --- --- LOC101929717 101929717 broad.mit.edu 37 3 112862458 112862459 + RNA INS - - C rs141030854 by1000genomes TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr3:112862458_112862459insC ENST00000490139.1 - 0 1239_1240 RP11-572M11.4_ENST00000496389.1_RNA AGCCCAGTCTTCCAGTCTAGGC 0.495 3 3 --- --- --- --- LOC100507291 100507291 broad.mit.edu 37 3 139200297 139200300 + RNA DEL TATC TATC - rs60961300 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr3:139200297_139200300delTATC ENST00000515247.1 + 0 317 TTTATTTGTTTATCTATTCACATT 0.284 4 2 --- --- --- --- RP11-680B3.2 0 broad.mit.edu 37 3 148631298 148631298 + RNA DEL T T - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr3:148631298delT ENST00000488190.1 - 0 66 AGGCAGAGGGTTTTTTTTTTA 0.398 2 4 --- --- --- --- RP11-167H9.4 0 broad.mit.edu 37 3 149916662 149916663 + RNA INS - - C TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr3:149916662_149916663insC ENST00000489690.1 + 0 212 RP11-167H9.4_ENST00000487840.1_RNA TATTTGCATTACCCCCAAAGAA 0.332 2 4 --- --- --- --- CLRN1-AS1 116933 broad.mit.edu 37 3 150583280 150583281 + RNA INS - - GT rs67716332 by1000genomes TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr3:150583280_150583281insGT ENST00000476886.1 + 0 123 AGTAATAAAAAgtgtgtgtgtg 0.421 OREG0015880 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 3 --- --- --- --- CLRN1-AS1 116933 broad.mit.edu 37 3 150691602 150691603 + RNA DEL TG TG - rs66818841 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr3:150691602_150691603delTG ENST00000476886.1 + 0 123 CLRN1-AS1_ENST00000465576.1_RNA|RP11-166N6.2_ENST00000469268.1_RNA GACACAGGACtgtgtgtgtgtg 0.411 2 4 --- --- --- --- RP11-362A9.3 0 broad.mit.edu 37 3 152190599 152190600 + RNA INS - - G TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr3:152190599_152190600insG ENST00000463255.1 - 0 59 TTACACTTTCAGGGGGCAGCTA 0.455 2 4 --- --- --- --- RP11-71H9.2 0 broad.mit.edu 37 3 164399393 164399393 + RNA DEL G G - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr3:164399393delG ENST00000486767.1 - 0 222 AACCCCAGGTGGGAGTCAAAT 0.308 2 4 --- --- --- --- LINC01208 100505547 broad.mit.edu 37 3 176345540 176345540 + RNA DEL G G - rs11914830 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr3:176345540delG ENST00000434969.1 - 0 283 aaggaaggaaggaaagagaga 0.388 2 4 --- --- --- --- LINC00578 100505566 broad.mit.edu 37 3 177400510 177400511 + RNA INS - - T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr3:177400510_177400511insT ENST00000442937.1 + 0 428 NR_047568.1 CCTCCCTGTACTTTTTTTTGGG 0.356 2 4 --- --- --- --- LOC253573 253573 broad.mit.edu 37 3 186195859 186195859 + RNA DEL T T - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr3:186195859delT ENST00000427914.1 - 0 974 RP11-48F14.2_ENST00000456535.1_lincRNA NR_033844.1 atcagaataattttttcctta 0.463 2 4 --- --- --- --- LOC647323 647323 broad.mit.edu 37 3 193692858 193692859 + RNA INS - - AC rs141019825 by1000genomes TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr3:193692858_193692859insAC ENST00000397645.2 - 0 75 NR_033944.1 CGTGCGTGCATACACACACACA 0.579 OREG0015991 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 1 --- --- --- --- LINC01182 101929071 broad.mit.edu 37 4 13724530 13724531 + RNA DEL GG GG - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr4:13724530_13724531delGG ENST00000510907.1 + 0 281 GGTACAATCTGGGCAGAAGAAT 0.391 2 4 --- --- --- --- RP11-103J17.1 0 broad.mit.edu 37 4 37093776 37093776 + RNA DEL A A - rs35490571 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr4:37093776delA ENST00000508199.1 + 0 56 ttgtctggggaagactttatt 0.328 4 3 --- --- --- --- RP11-25H12.1 0 broad.mit.edu 37 4 66897821 66897821 + RNA DEL A A - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr4:66897821delA ENST00000508572.1 + 0 463 caaccaaagcaaaaatggaca 0.393 2 4 --- --- --- --- LINC01088 100505875 broad.mit.edu 37 4 79973054 79973054 + RNA DEL G G - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr4:79973054delG ENST00000509088.1 + 0 182 RP11-438E5.1_ENST00000510667.1_RNA NR_038342.1 AGATATTTATGGGAGTACTGA 0.408 2 4 --- --- --- --- PPP3CA 5530 broad.mit.edu 37 4 101947129 101947149 + In_Frame_Del DEL TGCGAGGCGGCATCCTCTCAT TGCGAGGCGGCATCCTCTCAT - rs151291665 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr4:101947129_101947149delTGCGAGGCGGCATCCTCTCAT ENST00000394854.3 - 14 2122_2142 c.1439_1459delATGAGAGGATGCCGCCTCGCA c.(1438-1461)aga>a p.NERMPPRR480del PPP3CA_ENST00000512215.1_In_Frame_Del_p.NERMPPRR248del|PPP3CA_ENST00000523694.2_In_Frame_Del_p.NERMPPRR413del|PPP3CA_ENST00000394853.4_In_Frame_Del_p.NERMPPRR470del|PPP3CA_ENST00000507176.1_In_Frame_Del_p.NERMPPRR382del|PPP3CA_ENST00000323055.6_In_Frame_Del_p.NERMPPRR428del NM_000944.4 NP_000935.1 Q08209 PP2BA_HUMAN protein phosphatase 3, catalytic subunit, alpha isozyme 480 Inhibitory domain. protein dephosphorylation calcineurin complex|cytosol|nucleus calcium ion binding|calmodulin binding p.R487G(1) breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(123;6.79e-08) ATGGCATCTCTGCGAGGCGGCATCCTCTCATTAATTCGGTC 0.452 22 162 --- --- --- --- RP11-556I14.2 0 broad.mit.edu 37 4 105814472 105814472 + RNA DEL A A - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr4:105814472delA ENST00000515127.1 - 0 366 ctgagacaggaaaaaAGGGGT 0.383 2 4 --- --- --- --- RP11-138I17.1 0 broad.mit.edu 37 4 137963953 137963953 + RNA DEL A A - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr4:137963953delA ENST00000505736.1 - 0 103 gaattgaaagaaggtgaaata 0.284 2 4 --- --- --- --- RP13-578N3.3 0 broad.mit.edu 37 4 144644693 144644693 + RNA DEL G G - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr4:144644693delG ENST00000499587.2 + 0 35 agaccagcctggtcaacatag 0.527 2 4 --- --- --- --- RP11-51M24.1 0 broad.mit.edu 37 4 175276863 175276863 + RNA DEL C C - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr4:175276863delC ENST00000508815.1 - 0 269 TAGATGAACTCCCATATGGCA 0.358 3 4 --- --- --- --- RP11-130F10.1 0 broad.mit.edu 37 4 178396183 178396185 + RNA DEL TTG TTG - rs72127894 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr4:178396183_178396185delTTG ENST00000507023.1 + 0 581 CTGCATTACTttgttgttgttgt 0.404 2 4 --- --- --- --- LOC728339 728339 broad.mit.edu 37 4 190808280 190808280 + RNA DEL C C - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr4:190808280delC ENST00000511785.1 - 0 231 GAAAGGCAGGCTTAGCCAAGT 0.428 4 7 --- --- --- --- RP11-259O2.2 0 broad.mit.edu 37 5 1964565 1964565 + RNA DEL G G - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr5:1964565delG ENST00000511698.1 - 0 242 cacagactgaggtggcacagc 0.562 2 4 --- --- --- --- LINC01019 285577 broad.mit.edu 37 5 3516445 3516446 + RNA INS - - G rs111513365 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr5:3516445_3516446insG ENST00000505443.1 - 0 459 NR_033898.1 tggaaggcaaagggggggggca 0.515 4 3 --- --- --- --- RP11-445O3.2 0 broad.mit.edu 37 5 4491412 4491413 + RNA INS - - C TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr5:4491412_4491413insC ENST00000507435.1 - 0 532 GGGAGCTCCTGCCCCTGGAGCT 0.485 2 4 --- --- --- --- RP11-445O3.2 0 broad.mit.edu 37 5 4651584 4651585 + RNA DEL GA GA - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr5:4651584_4651585delGA ENST00000507435.1 - 0 429 ATATGCTTGTGAGATCAAAATG 0.406 2 4 --- --- --- --- RP11-122F24.1 0 broad.mit.edu 37 5 6963975 6963976 + RNA INS - - T rs34000296 by1000genomes TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr5:6963975_6963976insT ENST00000512838.1 + 0 69 TGGTGTATCTATTTTTTTTTCA 0.347 4 4 --- --- --- --- CTD-2256P15.4 0 broad.mit.edu 37 5 10266957 10266960 + RNA DEL TGAA TGAA - rs56191713 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr5:10266957_10266960delTGAA ENST00000606194.1 - 0 298_301 tttttttctctgaatgttctcaac 0.397 2 4 --- --- --- --- RP11-124N3.3 0 broad.mit.edu 37 5 19057275 19057282 + RNA DEL ATTTGTAT ATTTGTAT - rs55986213 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr5:19057275_19057282delATTTGTAT ENST00000504827.1 - 0 289 CTGAAGTTGCATTTGTATATTTGTATTC 0.423 3 5 --- --- --- --- RP11-2N5.2 0 broad.mit.edu 37 5 117914425 117914426 + RNA DEL TC TC - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr5:117914425_117914426delTC ENST00000513366.1 + 0 267 cctgtctctatctctctctctc 0.505 2 4 --- --- --- --- CTB-57H20.1 0 broad.mit.edu 37 5 143116237 143116237 + RNA DEL A A - rs61655116 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr5:143116237delA ENST00000503323.1 + 0 379 atctccaaagaaaaaaaaaaa 0.463 2 4 --- --- --- --- CTC-295J13.3 0 broad.mit.edu 37 5 147621088 147621089 + RNA DEL AA AA - rs74393250 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr5:147621088_147621089delAA ENST00000513133.1 + 0 77 CACTTCTACCaaaaaaaaaaaa 0.292 3 3 --- --- --- --- LOC102546299 102546299 broad.mit.edu 37 5 164485934 164485934 + RNA DEL A A - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr5:164485934delA ENST00000519570.1 + 0 451 CTC-340A15.2_ENST00000519267.1_RNA|CTC-340A15.2_ENST00000522303.1_RNA|CTC-340A15.2_ENST00000522646.1_RNA CAGaaaaaagaaaaaaaaaga 0.313 2 4 --- --- --- --- LY86-AS1 285780 broad.mit.edu 37 6 6396374 6396374 + RNA DEL A A - rs71671755 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr6:6396374delA ENST00000435641.1 - 0 639 LY86-AS1_ENST00000429345.1_RNA|LY86-AS1_ENST00000447858.1_RNA CAGAAAAAAGAAAAAAAAAAA 0.378 2 4 --- --- --- --- ZNRD1-AS1 80862 broad.mit.edu 37 6 30019853 30019853 + RNA DEL T T - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr6:30019853delT ENST00000376797.3 - 0 259 ZNRD1-AS1_ENST00000422224.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000421692.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000437417.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA gttgattccctgtctttgcta 0.363 2 4 --- --- --- --- XXbac-BPG27H4.8 0 broad.mit.edu 37 6 30811387 30811387 + RNA DEL T T - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr6:30811387delT ENST00000442852.1 - 0 305 cgttcctagcttttcctgctt 0.363 2 4 --- --- --- --- DST 667 broad.mit.edu 37 6 56490042 56490042 + Frame_Shift_Del DEL C C - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr6:56490042delC ENST00000370754.5 - 34 4643 c.4644delG c.(4642-4644)atfs p.M1548fs DST_ENST00000421834.2_Frame_Shift_Del_p.M1370fs|DST_ENST00000370765.6_Frame_Shift_Del_p.M1044fs|DST_ENST00000370769.4_Frame_Shift_Del_p.M1370fs|DST_ENST00000446842.2_Frame_Shift_Del_p.M1044fs|DST_ENST00000370788.2_Frame_Shift_Del_p.M1370fs|DST_ENST00000361203.3_Frame_Shift_Del_p.M1370fs|DST_ENST00000312431.6_Frame_Shift_Del_p.M1370fs|DST_ENST00000518935.1_Frame_Shift_Del_p.M1044fs|DST_ENST00000244364.6_Frame_Shift_Del_p.M1044fs Q03001 DYST_HUMAN dystonin 1370 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CCCGGTAGGTCATTGTTTGTA 0.338 7 42 --- --- --- --- RP1-23E21.2 0 broad.mit.edu 37 6 93804752 93804753 + RNA DEL AC AC - rs34680884 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr6:93804752_93804753delAC ENST00000452624.1 + 0 144 aaagTACAGGacacacacacac 0.366 2 4 --- --- --- --- RP11-436D23.1 0 broad.mit.edu 37 6 98446873 98446874 + RNA DEL TG TG - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr6:98446873_98446874delTG ENST00000607823.1 + 0 267 tgtgtgtgtatgtgtgtgtgtg 0.431 2 4 --- --- --- --- RP11-436D23.1 0 broad.mit.edu 37 6 98465660 98465660 + RNA DEL A A - rs76508926 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr6:98465660delA ENST00000607823.1 + 0 267 ATCAAAATCTAAAAAAAAAAA 0.343 2 4 --- --- --- --- TRDN 10345 broad.mit.edu 37 6 123786033 123786033 + Frame_Shift_Del DEL A A - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr6:123786033delA ENST00000546248.1 - 9 1022 c.889delT c.(889-891)ctfs p.S297fs TRDN_ENST00000334268.4_Intron|RP11-532N4.2_ENST00000587106.1_RNA|TRDN_ENST00000398178.3_Intron|RP11-532N4.2_ENST00000427828.1_RNA|RP11-532N4.2_ENST00000434768.1_RNA|RP11-532N4.2_ENST00000589182.1_RNA|RP11-532N4.2_ENST00000418467.2_RNA NM_001256020.1 NP_001242949.1 Q13061 TRDN_HUMAN triadin 0 muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 41 GBM - Glioblastoma multiforme(226;0.184) GATCTTTAAGAAAAAAAAAAG 0.388 2 4 --- --- --- --- RP1-292B18.4 0 broad.mit.edu 37 6 151483584 151483584 + RNA DEL A A - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr6:151483584delA ENST00000415477.1 - 0 66 tcagctactcagggggctgag 0.527 2 4 --- --- --- --- RP1-292B18.4 0 broad.mit.edu 37 6 151539150 151539152 + RNA DEL TTG TTG - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr6:151539150_151539152delTTG ENST00000415477.1 - 0 66 gggcctgggcttgttgttgttgt 0.512 5 2 --- --- --- --- LOC102659288 102659288 broad.mit.edu 37 7 17482328 17482329 + RNA INS - - A rs36094444 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr7:17482328_17482329insA ENST00000419463.1 + 0 189 AC019117.2_ENST00000439046.1_lincRNA GTAATGTTGACAAAAAAAAGCC 0.332 2 4 --- --- --- --- LOC101927668 101927668 broad.mit.edu 37 7 19996325 19996326 + RNA INS - - TCT rs150029483 by1000genomes TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr7:19996325_19996326insTCT ENST00000449573.1 - 0 535 cctgctccccctctgccttttg 0.530 3 3 --- --- --- --- LOC101927668 101927668 broad.mit.edu 37 7 20146018 20146020 + RNA DEL TTC TTC - rs74274199 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr7:20146018_20146020delTTC ENST00000590912.1 + 0 252 TCTCAACTCTTTCTTCTTCTTAC 0.305 2 4 --- --- --- --- LOC101927668 101927668 broad.mit.edu 37 7 20156227 20156228 + RNA INS - - A rs113537453 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr7:20156227_20156228insA ENST00000590912.1 + 0 372 agactctgtttaaaaaaaaaaa 0.396 2 4 --- --- --- --- LINC01162 104355138 broad.mit.edu 37 7 20992943 20992943 + RNA DEL T T - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr7:20992943delT ENST00000447262.2 + 0 151 TAGCCTAGCATTTTTTTTTCT 0.348 3 6 --- --- --- --- NPSR1-AS1 404744 broad.mit.edu 37 7 34450526 34450526 + RNA DEL T T - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr7:34450526delT ENST00000419766.1 - 0 404 NR_033664.1|NR_033665.1 gtggcacatatttgtagtctc 0.398 2 4 --- --- --- --- RP11-806J6.1 0 broad.mit.edu 37 7 54001371 54001372 + RNA INS - - A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr7:54001371_54001372insA ENST00000418679.1 - 0 94 aggctgtggagaaaaaggaagg 0.376 2 4 --- --- --- --- LOC100996654 100996654 broad.mit.edu 37 7 54848495 54848495 + RNA DEL A A - rs75732784 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr7:54848495delA ENST00000439413.2 + 0 100 TACACAAAGCAAAAAAAAAAA 0.408 2 4 --- --- --- --- LOC101927497 101927497 broad.mit.edu 37 7 92525016 92525017 + RNA INS - - T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr7:92525016_92525017insT ENST00000419668.1 + 0 189 AC002454.1_ENST00000452050.1_RNA|AC002454.1_ENST00000435695.1_RNA|AC002454.1_ENST00000424523.1_RNA ttttgaaggggttttttttttt 0.347 3 4 --- --- --- --- AC003092.2 0 broad.mit.edu 37 7 93702556 93702559 + RNA DEL GATA GATA - rs71887670 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr7:93702556_93702559delGATA ENST00000411946.1 - 0 163 tagattagatgatagatagataga 0.328 2 4 --- --- --- --- DLX6-AS1 285987 broad.mit.edu 37 7 96603957 96603958 + RNA INS - - A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr7:96603957_96603958insA ENST00000430027.2 - 0 1386 DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000431497.2_RNA NR_015448.1 ctgttttgcagaaaaaaaaatg 0.342 2 4 --- --- --- --- LINC01004 100216546 broad.mit.edu 37 7 104637287 104637288 + RNA INS - - T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr7:104637287_104637288insT ENST00000445184.1 - 0 93 RP11-325F22.3_ENST00000450686.1_RNA TTTGTATCCCAttttttttttt 0.426 2 4 --- --- --- --- RP11-807H17.1 0 broad.mit.edu 37 7 125077838 125077839 + RNA INS - - GTGT rs34866375 by1000genomes TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr7:125077838_125077839insGTGT ENST00000453278.1 + 0 247 GTGATAGTTTCgtgtgtgtgtg 0.460 2 4 --- --- --- --- LINC-PINT 378805 broad.mit.edu 37 7 130579247 130579247 + RNA DEL G G - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr7:130579247delG ENST00000432045.1 - 0 403 AC016831.7_ENST00000447430.1_RNA NR_034120.1 GCACCTTGAAGTGAGGCATTA 0.517 2 4 --- --- --- --- ERICH1-AS1 619343 broad.mit.edu 37 8 1037553 1037554 + RNA INS - - T rs143186502 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr8:1037553_1037554insT ENST00000522092.1 + 0 332 ERICH1-AS1_ENST00000578889.1_RNA NR_073397.1|NR_073466.1 ctctctctctcttttttttttt 0.386 3 4 --- --- --- --- RP11-13N12.2 0 broad.mit.edu 37 8 16520067 16520068 + RNA INS - - A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr8:16520067_16520068insA ENST00000521055.1 + 0 401 Ttcaccatcccaaaaaggctgt 0.371 2 4 --- --- --- --- RP11-566H8.3 0 broad.mit.edu 37 8 31144480 31144480 + RNA DEL T T - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr8:31144480delT ENST00000524022.1 + 0 213 actgacCTGCTTTTTAATCTA 0.383 2 4 --- --- --- --- RP11-962G15.1 0 broad.mit.edu 37 8 36434771 36434771 + RNA DEL C C - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr8:36434771delC ENST00000524132.1 - 0 484 gcaaatctggccatcctgaaa 0.433 2 4 --- --- --- --- RP11-388G22.1 0 broad.mit.edu 37 8 58606670 58606670 + RNA DEL G G - rs60732092 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr8:58606670delG ENST00000520426.1 - 0 273 TACAAAAAAagagagagagag 0.373 2 4 --- --- --- --- RP11-6I2.3 0 broad.mit.edu 37 8 74996094 74996094 + RNA DEL T T - rs113368652 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr8:74996094delT ENST00000519323.1 + 0 303 gcctggctaattttttttttt 0.527 2 4 --- --- --- --- RP11-354A14.1 0 broad.mit.edu 37 8 82827709 82827709 + RNA DEL A A - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr8:82827709delA ENST00000534675.1 + 0 64 ctcctgacataaaaaaaaaaa 0.428 2 4 --- --- --- --- LINC00535 642924 broad.mit.edu 37 8 94439202 94439202 + RNA DEL T T - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr8:94439202delT ENST00000501400.1 - 0 1133 NR_033858.1 CCCCAGCCAATTCTATTCTAA 0.428 2 4 --- --- --- --- C8orf37-AS1 100616530 broad.mit.edu 37 8 96579657 96579658 + RNA INS - - C TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr8:96579657_96579658insC ENST00000521905.1 + 0 281 gaccaacatctccccagtctct 0.337 2 4 --- --- --- --- RP11-1084E5.1 0 broad.mit.edu 37 8 110007118 110007118 + RNA DEL T T - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr8:110007118delT ENST00000522244.1 - 0 264 AATCTTGTACTTATAAAGTGA 0.363 2 4 --- --- --- --- RP11-398G24.2 0 broad.mit.edu 37 8 123031335 123031336 + RNA INS - - T rs35174942 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr8:123031335_123031336insT ENST00000523792.1 - 0 160 AAGAATAGAGAttttttttttt 0.446 5 4 --- --- --- --- CCDC26 137196 broad.mit.edu 37 8 130604292 130604293 + RNA INS - - C TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr8:130604292_130604293insC ENST00000446592.3 - 0 312 CAATGGTCACACCCCCCCCAGC 0.530 2 4 --- --- --- --- LOC101927822 101927822 broad.mit.edu 37 8 134903550 134903550 + RNA DEL T T - rs56889162 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr8:134903550delT ENST00000520149.2 + 0 45 tctttctttctttctttcgac 0.443 3 3 --- --- --- --- LOC401478 401478 broad.mit.edu 37 8 139067065 139067066 + RNA INS - - AT TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr8:139067065_139067066insAT ENST00000518973.1 - 0 514 cacatgcacacatgtttatcgc 0.391 3 4 --- --- --- --- RP11-706C16.8 0 broad.mit.edu 37 8 143891995 143891996 + RNA INS - - A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr8:143891995_143891996insA ENST00000510610.2 + 0 216 tctctccacccccccctctttt 0.559 2 4 --- --- --- --- LINC01239 441389 broad.mit.edu 37 9 22792759 22792760 + RNA INS - - A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr9:22792759_22792760insA ENST00000436786.1 + 0 524 NR_038977.1 AAGAAAACTGCAAAAAAACAAC 0.411 2 4 --- --- --- --- RP11-791O21.5 0 broad.mit.edu 37 9 91589772 91589773 + RNA DEL GT GT - rs79362152 by1000genomes TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr9:91589772_91589773delGT ENST00000421482.1 + 0 208 gtgcgcgcgcgtgtgtgtgtgt 0.629 3 3 --- --- --- --- LINC01508 101927873 broad.mit.edu 37 9 93158207 93158208 + RNA INS - - C TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr9:93158207_93158208insC ENST00000425666.1 - 0 59 TGCTTCACCTTCCCCCGTCTTG 0.564 2 4 --- --- --- --- LINC01508 101927873 broad.mit.edu 37 9 93172701 93172701 + RNA DEL A A - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr9:93172701delA ENST00000425666.1 - 0 59 acaaaatgccaaaaattggga 0.308 2 4 --- --- --- --- LINC01501 340515 broad.mit.edu 37 9 93245760 93245761 + RNA INS - - C TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr9:93245760_93245761insC ENST00000449990.1 - 0 647 NR_034157.1 tgcccaccagaccccactttct 0.495 2 4 --- --- --- --- LINC00701 399708 broad.mit.edu 37 10 2350846 2350847 + RNA INS - - A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr10:2350846_2350847insA ENST00000418295.1 - 0 46 NR_038884.1 ctgcatcccagaaaaaaggtct 0.361 2 4 --- --- --- --- RP11-508N22.9 0 broad.mit.edu 37 10 38454833 38454834 + RNA INS - - GTGT rs138441945 by1000genomes TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr10:38454833_38454834insGTGT ENST00000419779.1 + 0 225 CACTTTGCGGGgtgtgtgtgtg 0.465 3 4 --- --- --- --- RP11-282I1.1 0 broad.mit.edu 37 10 125132205 125132206 + RNA DEL TG TG - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr10:125132205_125132206delTG ENST00000448347.1 + 0 586 tgcacgtgcatgtgtgtgtgtg 0.480 3 6 --- --- --- --- DNHD1 144132 broad.mit.edu 37 11 6567895 6567896 + In_Frame_Ins INS - - TGCCCTACTGCA rs35685553 by1000genomes TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr11:6567895_6567896insTGCCCTACTGCA ENST00000254579.6 + 21 6290_6291 c.5726_5727insTGCCCTACTGCA c.(5725-5727)ggc>gTGCCCTACTGCAgc p.1909_1909G>VPYCS DNHD1_ENST00000527990.2_In_Frame_Ins_p.1909_1909G>VPYCS NM_144666.2 NP_653267.2 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 1909 A -> AALLH (in Ref. 5; BAB85004 and 6; CAB70845). microtubule-based movement dynein complex microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 55 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) ATTGAGGAGGCTGCCCTACTGC 0.559 3 3 --- --- --- --- RP11-587D21.4 0 broad.mit.edu 37 11 27825828 27825829 + RNA DEL CA CA - rs5790667 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr11:27825828_27825829delCA ENST00000530663.1 - 0 147 cacacacgcgcacacacacaca 0.421 3 5 --- --- --- --- RP11-460B17.3 0 broad.mit.edu 37 11 29432836 29432837 + RNA INS - - TG rs143088981 by1000genomes TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr11:29432836_29432837insTG ENST00000525097.1 - 0 153 catcctagttttgtgtgtgtgt 0.342 2 4 --- --- --- --- OR4C15 81309 broad.mit.edu 37 11 55322055 55322056 + Frame_Shift_Ins INS - - G TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr11:55322055_55322056insG ENST00000314644.2 + 1 273_274 c.273_274insG c.(271-276)gtggggfs p.VG91fs NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 37 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 TTGCAACTGTTGGGGGCAACAT 0.431 HNSCC(20;0.049) 8 608 --- --- --- --- OR5D16 390144 broad.mit.edu 37 11 55606403 55606403 + Frame_Shift_Del DEL C C - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr11:55606403delC ENST00000378396.1 + 1 176 c.176delC c.(175-177)acfs p.T59fs NM_001005496.1 NP_001005496.1 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, member 16 59 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) AAATTGCATACCCCCATGTAT 0.428 12 272 --- --- --- --- SLC22A24 283238 broad.mit.edu 37 11 62911085 62911085 + Frame_Shift_Del DEL T T - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr11:62911085delT ENST00000417740.1 - 1 608 c.167delA c.(166-168)atfs p.N56fs SLC22A10_ENST00000525620.1_Intron|SLC22A24_ENST00000326192.5_Frame_Shift_Del_p.N56fs NM_001136506.2 NP_001129978.2 solute carrier family 22, member 24 kidney(1)|stomach(1) 2 CACAGTGTCATTGTCCAGGAG 0.507 18 29 --- --- --- --- RP11-262A12.1 0 broad.mit.edu 37 11 109664846 109664846 + RNA DEL A A - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr11:109664846delA ENST00000534252.2 - 0 393 atgctataacaaaatacctta 0.333 2 4 --- --- --- --- LOC100507283 100507283 broad.mit.edu 37 11 124688413 124688413 + RNA DEL T T - rs73012460 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr11:124688413delT ENST00000499143.2 + 0 1284 tctgccttccttttttttttt 0.463 2 4 --- --- --- --- LOC100507431 100507431 broad.mit.edu 37 11 130730716 130730717 + RNA INS - - AGGCCCC rs66463260 by1000genomes TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr11:130730716_130730717insAGGCCCC ENST00000533812.2 - 0 946 TAAACCCTGCTAGagaggtgcg 0.530 2 4 --- --- --- --- LOC283440 283440 broad.mit.edu 37 12 2877580 2877580 + RNA DEL C C - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr12:2877580delC ENST00000536497.1 - 0 147 RP11-885B4.1_ENST00000540093.1_lincRNA NR_033958.1 gtgaacccctcgaagccaggT 0.557 4 7 --- --- --- --- LOC101928100 101928100 broad.mit.edu 37 12 10522527 10522528 + RNA INS - - A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr12:10522527_10522528insA ENST00000500682.1 + 0 265 aagatagaaagaaaaaaaaact 0.441 2 4 --- --- --- --- RP11-114G22.1 0 broad.mit.edu 37 12 23171340 23171340 + RNA DEL A A - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr12:23171340delA ENST00000540895.1 + 0 508 GATTGGGGGGAGACCTTTTCA 0.388 2 4 --- --- --- --- RP11-547C5.2 0 broad.mit.edu 37 12 43390126 43390127 + RNA INS - - T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr12:43390126_43390127insT ENST00000551279.1 - 0 162_163 AGACttttttctttttttttga 0.475 3 4 --- --- --- --- RP11-415I12.3 0 broad.mit.edu 37 12 64166995 64167006 + RNA DEL AAGAAAGAAAGA AAGAAAGAAAGA - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr12:64166995_64167006delAAGAAAGAAAGA ENST00000509615.2 - 0 238 agaaagaaagaagaaagaaagaaagaaagaaa 0.344 3 4 --- --- --- --- RP11-114H23.1 0 broad.mit.edu 37 12 76191286 76191287 + RNA INS - - TT rs71686279 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr12:76191286_76191287insTT ENST00000552856.1 - 0 295 gggagacaggcttttttttttt 0.460 4 2 --- --- --- --- LINC01234 100506465 broad.mit.edu 37 12 114189886 114189886 + RNA DEL A A - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr12:114189886delA ENST00000547963.1 - 0 69 gtgttcatttAAAAAAAAAAG 0.408 2 4 --- --- --- --- RP11-897M7.1 0 broad.mit.edu 37 12 131962110 131962111 + RNA INS - - ATA rs141746341 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr12:131962110_131962111insATA ENST00000535133.1 - 0 195 tggtaatggtggtgatgatggt 0.396 4 6 --- --- --- --- LINC00572 100861573 broad.mit.edu 37 13 30497371 30497372 + RNA INS - - AG rs67186814 by1000genomes TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr13:30497371_30497372insAG ENST00000450264.1 - 0 149 GTGATCTCTGAAGAGAGAGAGA 0.416 3 4 --- --- --- --- LINC00348 100885781 broad.mit.edu 37 13 71698310 71698310 + RNA DEL A A - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr13:71698310delA ENST00000428761.1 + 0 108 NR_047699.1 tggggagtctactggtatctc 0.458 2 4 --- --- --- --- SUPT16H 11198 broad.mit.edu 37 14 21820849 21820850 + Frame_Shift_Ins INS - - G TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr14:21820849_21820850insG ENST00000216297.2 - 26 3464_3465 c.3126_3127insC c.(3124-3129)ccagaafs p.E1043fs NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 1043 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) CTCTTTTTCTTGGGGGGTGCAG 0.480 8 346 --- --- --- --- LOC101929735 101929735 broad.mit.edu 37 14 22861230 22861230 + RNA DEL T T - rs34663063 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr14:22861230delT ENST00000514473.2 - 0 225 AE000661.37_ENST00000541008.1_RNA|AE000661.37_ENST00000535351.1_RNA|AE000661.37_ENST00000545670.1_RNA GTATCCGTGATGTCCCCAAGT 0.468 6 0 --- --- --- --- RP11-314P15.2 0 broad.mit.edu 37 14 26308198 26308199 + RNA INS - - ATC rs142385273 by1000genomes TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr14:26308198_26308199insATC ENST00000546412.1 - 0 258 TGCTGTTTTAGATCACTGTCTT 0.381 5 3 --- --- --- --- CTD-2307P3.1 0 broad.mit.edu 37 14 42832652 42832653 + RNA INS - - AATTGTG rs137988184 by1000genomes TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr14:42832652_42832653insAATTGTG ENST00000557251.1 + 0 18 ATAGTGAGTGAAATTGTGGTGG 0.302 3 4 --- --- --- --- RP11-305B6.3 0 broad.mit.edu 37 14 44790784 44790784 + RNA DEL T T - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr14:44790784delT ENST00000553827.1 - 0 69 cacctggccATTTTTTAAACa 0.488 2 4 --- --- --- --- LINC00871 100506412 broad.mit.edu 37 14 46614589 46614589 + RNA DEL G G - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr14:46614589delG ENST00000556886.1 + 0 58 NR_102701.1 TGGCAAgagtgggaaagtagt 0.363 2 4 --- --- --- --- YLPM1 56252 broad.mit.edu 37 14 75248518 75248519 + Frame_Shift_Ins INS - - C TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr14:75248518_75248519insC ENST00000325680.7 + 4 1896_1897 c.1772_1773insC c.(1771-1773)cccfs p.P591fs YLPM1_ENST00000238571.3_Intron|YLPM1_ENST00000552421.1_Frame_Shift_Ins_p.P591fs NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 392 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) CCACCAGTTCTCCCCCCACCTT 0.599 10 338 --- --- --- --- RP11-7F17.4 0 broad.mit.edu 37 14 77545623 77545624 + RNA INS - - TTTTC rs142698524 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr14:77545623_77545624insTTTTC ENST00000554043.1 - 0 219 cacaGtcttttttttcttttct 0.426 3 6 --- --- --- --- RP11-666E17.1 0 broad.mit.edu 37 14 82331480 82331481 + RNA INS - - A rs146914421 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr14:82331480_82331481insA ENST00000554814.1 + 0 315 AAGAATCTGTCAAAAAAAAAAA 0.312 6 1 --- --- --- --- PWRN1 791114 broad.mit.edu 37 15 24824884 24824885 + RNA INS - - T rs141969475 by1000genomes TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr15:24824884_24824885insT ENST00000568609.1 + 0 1126 NR_026646.1 AAAGCTTTGTCTTTTTGCAGTA 0.366 3 3 --- --- --- --- LOC100128714 100128714 broad.mit.edu 37 15 26183184 26183185 + RNA INS - - C rs139736945 by1000genomes TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr15:26183184_26183185insC ENST00000383019.2 + 0 207 NR_040082.1 accatttttctcccccccaaag 0.391 2 4 --- --- --- --- LOC100128714 100128714 broad.mit.edu 37 15 26198073 26198073 + RNA DEL A A - rs111644740 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr15:26198073delA ENST00000383019.2 + 0 207 NR_040082.1 cttgttacataattctggttt 0.343 3 6 --- --- --- --- GABRB3 2562 broad.mit.edu 37 15 26866529 26866530 + Frame_Shift_Ins INS - - A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr15:26866529_26866530insA ENST00000541819.2 - 5 662_663 c.560_561insT c.(559-561)gcafs p.A187fs GABRB3_ENST00000299267.4_Frame_Shift_Ins_p.A131fs|GABRB3_ENST00000400188.3_Frame_Shift_Ins_p.A60fs|GABRB3_ENST00000311550.5_Frame_Shift_Ins_p.A131fs|GABRB3_ENST00000545868.1_Frame_Shift_Ins_p.A46fs P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 3 131 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TCACTCCATGCACAAATGACTT 0.495 21 122 --- --- --- --- HERC2P9 440248 broad.mit.edu 37 15 28900331 28900331 + RNA DEL A A - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr15:28900331delA ENST00000528584.1 + 0 14 NR_036443.1 actctgtctcaaaaaaaaaaa 0.413 4 7 --- --- --- --- RP11-122D10.1 0 broad.mit.edu 37 15 37170937 37170940 + RNA DEL TGTG TGTG - rs34628308 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr15:37170937_37170940delTGTG ENST00000558089.1 - 0 488 CAtgcgtgtttgtgtgtgtgtgtg 0.495 3 5 --- --- --- --- RP11-346D14.1 0 broad.mit.edu 37 15 38451367 38451368 + RNA DEL CT CT - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr15:38451367_38451368delCT ENST00000561320.1 - 0 222 TGTctttctcctctctctctct 0.455 2 4 --- --- --- --- RP11-624L4.1 0 broad.mit.edu 37 15 39626677 39626678 + RNA INS - - T rs35224151 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr15:39626677_39626678insT ENST00000559318.1 - 0 408 RP11-624L4.1_ENST00000560484.1_RNA|RP11-624L4.1_ENST00000558209.1_RNA GCAAGATTGAAttttttttttt 0.465 4 4 --- --- --- --- RP11-208K4.1 0 broad.mit.edu 37 15 48182359 48182359 + RNA DEL A A - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr15:48182359delA ENST00000560900.1 + 0 195 CCCAGAATGGAATATGTCAAA 0.348 2 4 --- --- --- --- RP11-208K4.1 0 broad.mit.edu 37 15 48269888 48269889 + RNA INS - - T rs147211516 by1000genomes TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr15:48269888_48269889insT ENST00000560900.1 + 0 195 tttctttttcatttttttttgt 0.282 2 4 --- --- --- --- CTD-2184D3.5 0 broad.mit.edu 37 15 52364731 52364732 + RNA INS - - T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr15:52364731_52364732insT ENST00000558607.1 - 0 54 ACCAACTTGTCttttttttgag 0.470 2 4 --- --- --- --- ANKRD34C-AS1 729911 broad.mit.edu 37 15 79570288 79570291 + RNA DEL CCTT CCTT - rs59775108 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr15:79570288_79570291delCCTT ENST00000560533.1 - 0 207 CTGACCCCTCccttccttccttcc 0.397 3 6 --- --- --- --- CTD-2034I4.1 0 broad.mit.edu 37 15 81750914 81750915 + RNA INS - - T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr15:81750914_81750915insT ENST00000559211.1 + 0 98 ccacctctgagttttttttttt 0.317 2 4 --- --- --- --- CTD-2034I4.1 0 broad.mit.edu 37 15 81850739 81850740 + RNA INS - - T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr15:81850739_81850740insT ENST00000559211.1 + 0 98 attcttttttctttttttgtct 0.302 3 3 --- --- --- --- RP11-382A20.4 0 broad.mit.edu 37 15 84033236 84033237 + RNA DEL AC AC - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr15:84033236_84033237delAC ENST00000565495.1 + 0 264 GCTATCAGCTacacacacacac 0.426 3 6 --- --- --- --- RP11-648K4.2 0 broad.mit.edu 37 15 87987190 87987190 + RNA DEL A A - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr15:87987190delA ENST00000560439.1 - 0 278 TGCTTGTCATAAGAACAGTAG 0.393 2 4 --- --- --- --- CTD-2544M6.1 0 broad.mit.edu 37 15 98646954 98646955 + RNA INS - - G rs139488428 by1000genomes TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr15:98646954_98646955insG ENST00000560360.1 - 0 291 caccactacctggggcagcctg 0.470 2 4 --- --- --- --- IL9RP3 729486 broad.mit.edu 37 16 80469 80470 + RNA DEL AC AC - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr16:80469_80470delAC ENST00000568710.1 - 0 434 acacagacatacacacacacac 0.465 5 1 --- --- --- --- RP11-420N3.2 0 broad.mit.edu 37 16 5467161 5467161 + RNA DEL T T - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr16:5467161delT ENST00000569895.1 + 0 304 TTAAGCAGCCTTTTGTGAACT 0.393 2 4 --- --- --- --- CD2BP2 10421 broad.mit.edu 37 16 30365345 30365346 + Frame_Shift_Ins INS - - C TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr16:30365345_30365346insC ENST00000305596.3 - 4 426_427 c.251_252insG c.(250-252)ggtfs p.G84fs CD2BP2_ENST00000569466.1_Frame_Shift_Ins_p.G84fs NM_006110.2 NP_006101.1 O95400 CD2B2_HUMAN CD2 (cytoplasmic tail) binding protein 2 84 assembly of spliceosomal tri-snRNP cytoplasm|nucleoplasm|U5 snRNP protein binding|ribonucleoprotein binding breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 15 TGATCCGAACACCCCCCTCGCT 0.579 7 190 --- --- --- --- RP11-67H24.2 0 broad.mit.edu 37 16 32828380 32828381 + RNA INS - - T rs148268914 by1000genomes TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr16:32828380_32828381insT ENST00000569859.1 + 0 373 agcatctgtggtttgttaggtc 0.337 3 6 --- --- --- --- LOC101927132 101927132 broad.mit.edu 37 16 47914821 47914822 + RNA INS - - TCA rs35484814 by1000genomes TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr16:47914821_47914822insTCA ENST00000569726.1 + 0 1830 AC140542.2_ENST00000570024.1_lincRNA aatcatcaaggtcatcatcatc 0.406 3 5 --- --- --- --- RP11-410D17.2 0 broad.mit.edu 37 16 58906650 58906650 + RNA DEL C C - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr16:58906650delC ENST00000500117.1 + 0 679 RP11-700H13.1_ENST00000562304.1_lincRNA gctttgctttccgcagtggct 0.378 2 4 --- --- --- --- LOC102724467 102724467 broad.mit.edu 37 16 87810798 87810799 + RNA INS - - C TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr16:87810798_87810799insC ENST00000563993.1 - 0 521 TCTGTGTGGGGCCCCCCAAAAC 0.540 2 4 --- --- --- --- ZNF276 92822 broad.mit.edu 37 16 89804205 89804214 + Splice_Site DEL CCCTCTCAGA CCCTCTCAGA - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr16:89804205_89804214delCCCTCTCAGA ENST00000289816.5 + 10 1561_1562 c.1249_splice c.e10-1 p.417_splice FANCA_ENST00000389301.3_3'UTR|ZNF276_ENST00000568064.1_Splice_Site_p.400_splice|ZNF276_ENST00000446326.2_Splice_Site_p.278_splice|ZNF276_ENST00000443381.2_Splice_Site_p.492_splice NM_152287.3 NP_689500.2 Q8N554 ZN276_HUMAN zinc finger protein 276 492 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1) 14 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0278) CTGGACTCTCCCCTCTCAGAGGTGCGGAAC 0.552 10 30 --- --- --- --- RP11-64J4.2 0 broad.mit.edu 37 17 3238331 3238332 + RNA INS - - A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr17:3238331_3238332insA ENST00000573491.1 - 0 359 atttgagaggcaaaagtataac 0.327 2 4 --- --- --- --- MYH8 4626 broad.mit.edu 37 17 10303998 10304000 + In_Frame_Del DEL CTC CTC - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr17:10303998_10304000delCTC ENST00000403437.2 - 27 3536_3538 c.3442_3444delGAG c.(3442-3444)del p.E1148del CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1148 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 TCTCGCTGATCTCCTCCAGTTCC 0.611 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 53 76 --- --- --- --- RP11-173M1.4 0 broad.mit.edu 37 17 25669995 25669996 + RNA DEL CT CT - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr17:25669995_25669996delCT ENST00000581118.1 + 0 172 ccctccctccctctctctctct 0.480 2 4 --- --- --- --- CRLF3 51379 broad.mit.edu 37 17 29151659 29151660 + Frame_Shift_Ins INS - - C TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr17:29151659_29151660insC ENST00000324238.6 - 1 134_135 c.10_11insG c.(10-12)gatfs p.D4fs CRLF3_ENST00000544695.1_5'UTR NM_015986.3 NP_057070.3 Q8IUI8 CRLF3_HUMAN cytokine receptor-like factor 3 4 negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter cytoplasm p.A4T(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 17 all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255) CAGCTCCATCGCCCCCCTCATC 0.738 3 6 --- --- --- --- RP11-271K11.5 0 broad.mit.edu 37 17 29369646 29369647 + RNA DEL CA CA - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr17:29369646_29369647delCA ENST00000583112.1 - 0 628 p.?(1) cacatgcaagcacacacacaca 0.500 2 4 --- --- --- --- CCL14 6358 broad.mit.edu 37 17 34313577 34313578 + Frame_Shift_Ins INS - - T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr17:34313577_34313578insT ENST00000591669.1 + 2 149_150 c.23_24insT c.(22-24)gtgfs p.V8fs CCL15-CCL14_ENST00000481427.2_Intron|CCL14_ENST00000536149.1_Intron|CTB-186H2.3_ENST00000593057.1_Intron|CCL14_ENST00000586216.1_Intron|CCL14_ENST00000394509.4_Intron|CCL14_ENST00000435911.2_Intron|CCL14_ENST00000480944.2_5'UTR CAGGCTCTAGGTTGGAAGGAAG 0.545 14 47 --- --- --- --- RP11-161I6.2 0 broad.mit.edu 37 18 2105082 2105083 + RNA INS - - C rs141614868 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr18:2105082_2105083insC ENST00000579097.1 - 0 310 GCTTCGCTTCTCCCCCCCAACT 0.564 OREG0024837 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 6 --- --- --- --- TGIF1 7050 broad.mit.edu 37 18 3452223 3452223 + Frame_Shift_Del DEL T T - rs11571510 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr18:3452223delT ENST00000330513.5 + 1 549 c.246delT c.(244-246)ccfs p.P85fs TGIF1_ENST00000577543.1_Intron|TGIF1_ENST00000401449.1_Intron|TGIF1_ENST00000551541.1_Intron|TGIF1_ENST00000551402.1_Intron|TGIF1_ENST00000548489.2_Intron|TGIF1_ENST00000345133.5_Intron|TGIF1_ENST00000407501.2_Intron|TGIF1_ENST00000405385.3_Intron|TGIF1_ENST00000343820.5_Intron NM_170695.2 NP_733796.2 Q15583 TGIF1_HUMAN TGFB-induced factor homeobox 1 85 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity p.P83fs*51(1) cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 13 Esophageal squamous(4;0.0859) Colorectal(8;0.0104) GCGCCCCCCCTCCTCCACCGG 0.766 6 6 --- --- --- --- RP11-784B15.1 0 broad.mit.edu 37 18 27117056 27117056 + RNA DEL T T - rs61425001 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr18:27117056delT ENST00000584482.1 + 0 446 gctaatgtacttttttttttt 0.493 4 2 --- --- --- --- RP11-879F14.1 0 broad.mit.edu 37 18 59282694 59282695 + RNA INS - - C TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr18:59282694_59282695insC ENST00000590968.1 - 0 317 tgccaccaccaccccccagcca 0.436 2 4 --- --- --- --- LOC643542 643542 broad.mit.edu 37 18 65208025 65208026 + RNA DEL TG TG - rs34427027 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr18:65208025_65208026delTG ENST00000583687.1 + 0 204 NR_033921.1 ATCATGTGCCtgtgtgtgtgtg 0.406 4 4 --- --- --- --- LOC100505817 100505817 broad.mit.edu 37 18 70992376 70992377 + RNA INS - - TCAG rs35504761 by1000genomes TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr18:70992376_70992377insTCAG ENST00000563172.1 + 0 201_202 NR_038340.1 cacctatgacctcaggtcctca 0.505 7 0 --- --- --- --- TECR 9524 broad.mit.edu 37 19 14674910 14674911 + Splice_Site INS - - T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr19:14674910_14674911insT ENST00000600083.1 + 6 551 c.e6+1 TECR_ENST00000215567.5_Splice_Site|TECR_ENST00000596073.1_Splice_Site|TECR_ENST00000436007.2_Splice_Site Q9NZ01 TECR_HUMAN trans-2,3-enoyl-CoA reductase fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity endometrium(1)|large_intestine(1)|ovary(1) 3 CAGTGGTGCAGTAAGTGGGGCA 0.599 21 49 --- --- --- --- AC011523.2 0 broad.mit.edu 37 19 51342839 51342875 + RNA DEL GGAGGAGGGGCTGGGGTCCTGGACTCCTGGGTCTGAA GGAGGAGGGGCTGGGGTCCTGGACTCCTGGGTCTGAA - rs2739445 by1000genomes TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr19:51342839_51342875delGGAGGAGGGGCTGGGGTCCTGGACTCCTGGGTCTGAA ENST00000598079.1 + 0 213 tgggtctgagggaggaggggctggggtcctggactcctgggtctgaaggaggagggg 0.641 7 3 --- --- --- --- ZSCAN1 284312 broad.mit.edu 37 19 58565207 58565207 + Frame_Shift_Del DEL G G - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr19:58565207delG ENST00000282326.1 + 6 1262 c.1015delG c.(1015-1017)gcfs p.G339fs NM_182572.3 NP_872378.3 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 339 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CACTGAGCATGGCAAGATCCA 0.657 16 23 --- --- --- --- RP5-1031J8.1 0 broad.mit.edu 37 20 38426662 38426663 + RNA INS - - C TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr20:38426662_38426663insC ENST00000444436.1 + 0 211 gactgctctgacccccccaccc 0.475 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11045627 11045627 + RNA DEL A A - rs56675609 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr21:11045627delA ENST00000470054.1 - 0 774 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CCAAAATAAGATGTGAAAAGA 0.363 8 13 --- --- --- --- AP000282.2 0 broad.mit.edu 37 21 34287100 34287101 + RNA INS - - A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr21:34287100_34287101insA ENST00000454622.1 - 0 201 AP000282.2_ENST00000420356.1_RNA TGACCATGCTGAAAAAAAAGAT 0.411 2 4 --- --- --- --- AP000282.2 0 broad.mit.edu 37 21 34320153 34320153 + RNA DEL T T - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr21:34320153delT ENST00000454622.1 - 0 201 AP000282.2_ENST00000420356.1_RNA gactgacttcttacacgtagc 0.358 2 4 --- --- --- --- LOC102724900 102724900 broad.mit.edu 37 22 27762038 27762039 + RNA INS - - G TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr22:27762038_27762039insG ENST00000413244.1 + 0 491 gctccagttttgggggcagtgg 0.421 2 4 --- --- --- --- RP3-438O4.4 0 broad.mit.edu 37 22 30601541 30601541 + RNA DEL G G - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr22:30601541delG ENST00000432360.1 - 0 62 GCACAGAGCTGGGGAAAAATC 0.592 2 4 --- --- --- --- RP1-149A16.12 0 broad.mit.edu 37 22 32728405 32728406 + RNA INS - - C rs137888968 by1000genomes TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr22:32728405_32728406insC ENST00000446543.1 - 0 94 acttcccacttcctcccctggt 0.579 4 2 --- --- --- --- ISX-AS1 101926957 broad.mit.edu 37 22 35429040 35429041 + RNA DEL AC AC - rs56228166 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr22:35429040_35429041delAC ENST00000448318.4 - 0 686 gtcgcccactacacacacacac 0.406 2 4 --- --- --- --- ISX-AS1 101926957 broad.mit.edu 37 22 35435235 35435239 + RNA DEL TTTTT TTTTT - rs76415449 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr22:35435235_35435239delTTTTT ENST00000448318.4 - 0 686 CATATTCCTCttttttttttttttt 0.507 2 4 --- --- --- --- LOC284930 284930 broad.mit.edu 37 22 48050357 48050357 + RNA DEL T T - rs11306064 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chr22:48050357delT ENST00000423737.1 + 0 387 atggtggtgatgggtaatggt 0.413 6 1 --- --- --- --- RP6-1O2.1 0 broad.mit.edu 37 X 10327528 10327529 + RNA DEL GT GT - rs3049021 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chrX:10327528_10327529delGT ENST00000454113.1 + 0 553 CTAGCCCAGCgtgtgtgtgtgt 0.406 3 6 --- --- --- --- PTCHD1-AS 100873065 broad.mit.edu 37 X 22421515 22421515 + RNA DEL T T - rs58908497 TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chrX:22421515delT ENST00000455399.1 - 0 312 GTGTCCACAGttttttttttt 0.483 2 4 --- --- --- --- HDX 139324 broad.mit.edu 37 X 83723979 83723979 + Frame_Shift_Del DEL C C - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chrX:83723979delC ENST00000297977.5 - 3 863 c.752delG c.(751-753)aafs p.R251fs HDX_ENST00000373177.2_Frame_Shift_Del_p.R251fs|HDX_ENST00000506585.2_Frame_Shift_Del_p.R193fs NM_001177479.1|NM_144657.4 NP_001170950.1|NP_653258.2 Q7Z353 HDX_HUMAN highly divergent homeobox 251 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 GTAAGGGTCTCTAATAGTTGG 0.438 9 138 --- --- --- --- FIRRE 286467 broad.mit.edu 37 X 130950840 130950840 + RNA DEL C C - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chrX:130950840delC ENST00000427391.1 - 0 496 NR_026975.1 GTCCCAACTTCCCCACAGGTG 0.478 OREG0019933 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- SPANXA2-OT1 619455 broad.mit.edu 37 X 140596112 140596113 + RNA DEL TA TA - TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e77555-9412-4e64-a6aa-65c996e3d521 7d924dfd-11ca-4f47-b095-13685722d7ef g.chrX:140596112_140596113delTA ENST00000421554.1 + 0 406 NR_037183.1 tgtgtatgtctatatatatatg 0.371 2 4 --- --- --- ---