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 KAT6A 7994 broad.mit.edu 37 8 41790659 41790659 + Silent SNP T T G TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr8:41790659T>G ENST00000396930.3 - 18 5622 c.5079A>C c.(5077-5079)ccA>ccC p.P1693P KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1693 Gln/Pro-rich. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ggggagggggtgggggtggag 0.627000 11 97 0 0 1 0 0 TRIP12 9320 broad.mit.edu 37 2 230724186 230724186 + Missense_Mutation SNP T T G TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr2:230724186T>G ENST00000283943.5 - 3 381 c.203A>C c.(202-204)aAt>aCt p.N68T TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000543084.1_Missense_Mutation_p.N110T|TRIP12_ENST00000389044.4_Missense_Mutation_p.N110T|TRIP12_ENST00000409677.1_Missense_Mutation_p.N110T NM_004238.1 NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 68 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) TCCTCGAGAATTGTCTTTCTT 0.463000 102 573 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109371498 109371498 + Silent SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr2:109371498G>A ENST00000283195.6 + 16 2466 c.2340G>A c.(2338-2340)ccG>ccA p.P780P NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 780 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 ATTCTACACCGTCTCCTACCA 0.353000 11 1131 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628282 29628282 + Missense_Mutation SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr20:29628282G>A ENST00000278882.3 + 6 664 c.284G>A c.(283-285)gGg>gAg p.G95E FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E|FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AATGAAGCAGGGGACATAGAA 0.373000 5 333 0 0 1 0 0 TBC1D2B 23102 broad.mit.edu 37 15 78290635 78290635 + Missense_Mutation SNP C C T rs117285325 by1000genomes TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr15:78290635C>T ENST00000409931.3 - 13 2778 c.2707G>A c.(2707-2709)Gac>Aac p.D903N TBC1D2B_ENST00000492078.1_5'UTR|TBC1D2B_ENST00000300584.3_Missense_Mutation_p.R920Q Q9UPU7 TBD2B_HUMAN TBC1 domain family, member 2B 0 intracellular protein binding|Rab GTPase activator activity p.D903N(3)|p.R920Q(1) breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 GTAGGCGCGTCGGTTCCGGAT 0.617000 4 71 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179585746 179585746 + Missense_Mutation SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr2:179585746G>A ENST00000589042.1 - 79 23224 c.23000C>T c.(22999-23001)aCg>aTg p.T7667M TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.T6423M|TTN_ENST00000591111.1_Missense_Mutation_p.T7350M|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7350 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTCATTGATCGTAAGCAATGC 0.453000 6 576 0 0 1 0 0 COL6A5 256076 broad.mit.edu 37 3 130189737 130189737 + Silent SNP C C T rs145645992 by1000genomes TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr3:130189737C>T ENST00000265379.6 + 39 7994 c.7500C>T c.(7498-7500)acC>acT p.T2500T COL6A5_ENST00000432398.2_Silent_p.T2500T A8TX70 CO6A5_HUMAN collagen, type VI, alpha 5 2500 Nonhelical region. axon guidance|cell adhesion collagen endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 AATATCCCACCGAAGATATGA 0.433000 28 120 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40368706 40368706 + Silent SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr19:40368706G>A ENST00000221347.6 - 28 12649 c.12642C>T c.(12640-12642)tgC>tgT p.C4214C NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4214 VWFD 10. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CGCAGAGCCCGCACACTGCGC 0.607000 10 1977 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3047451 3047451 + Missense_Mutation SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr8:3047451G>A ENST00000520002.1 - 35 5939 c.5384C>T c.(5383-5385)aCg>aTg p.T1795M CSMD1_ENST00000542608.1_Missense_Mutation_p.T1794M|CSMD1_ENST00000539096.1_Missense_Mutation_p.T1794M|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Missense_Mutation_p.T1794M|CSMD1_ENST00000602723.1_Missense_Mutation_p.T1795M|CSMD1_ENST00000400186.3_Missense_Mutation_p.T1795M|CSMD1_ENST00000602557.1_Missense_Mutation_p.T1795M Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1795 Sushi 10. 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) GCTGGGGATCGTGTCGTTCCA 0.592000 3 49 0 0 1 0 0 GPATCH3 63906 broad.mit.edu 37 1 27220874 27220874 + Missense_Mutation SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr1:27220874G>A ENST00000361720.5 - 3 927 c.904C>T c.(904-906)Cgg>Tgg p.R302W NM_022078.2 NP_071361.2 Q96I76 GPTC3_HUMAN G patch domain containing 3 302 Glu-rich. intracellular nucleic acid binding endometrium(2)|large_intestine(1)|lung(11)|skin(1) 15 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419) GCTTCATGCCGTTCCCATTCC 0.602000 6 530 0 0 1 0 0 TTLL8 164714 broad.mit.edu 37 22 50472798 50472798 + Missense_Mutation SNP A A G TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr22:50472798A>G ENST00000266182.6 - 9 1014 c.1015T>C c.(1015-1017)Tcc>Ccc p.S339P TTLL8_ENST00000440475.1_Missense_Mutation_p.S323P tubulin tyrosine ligase-like family, member 8 NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4) 12 all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162) READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226) CGGCCCCGGGACTTGGCCGCG 0.607000 59 220 0 0 1 0 0 ADAM12 8038 broad.mit.edu 37 10 127755358 127755358 + Silent SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr10:127755358G>A ENST00000368679.4 - 13 1659 c.1350C>T c.(1348-1350)tgC>tgT p.C450C ADAM12_ENST00000467145.1_5'UTR|ADAM12_ENST00000368676.4_Silent_p.C450C NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 450 Disintegrin. cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) TGGCATTGCAGCAGCGATTCA 0.522000 5 201 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414373 20414373 + Silent SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr9:20414373G>A ENST00000380338.4 - 5 757 c.471C>T c.(469-471)agC>agT p.S157S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S154S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 157 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S157S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.527000 T MLL ALL 4 167 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276981 186276981 + Silent SNP A A G TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr1:186276981A>G ENST00000445192.2 + 7 2175 c.2130A>G c.(2128-2130)aaA>aaG p.K710K PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367483.4_Silent_p.K669K NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 710 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CTACCCCTAAAGGGACTGCTC 0.582000 7 487 0 0 1 0 0 CNTN4 152330 broad.mit.edu 37 3 3078896 3078896 + Missense_Mutation SNP C C T rs151038163 TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr3:3078896C>T ENST00000397461.1 + 17 2360 c.1976C>T c.(1975-1977)gCg>gTg p.A659V CNTN4_ENST00000418658.1_Missense_Mutation_p.A659V|CNTN4_ENST00000397459.2_Missense_Mutation_p.A331V|CNTN4_ENST00000358480.3_Missense_Mutation_p.A440V|CNTN4_ENST00000427331.1_Missense_Mutation_p.A659V|CNTN4_ENST00000448906.2_Missense_Mutation_p.A331V NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 659 Fibronectin type-III 1. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) ACATTCACAGCGACCGTGGTG 0.498000 131 795 0 0 1 0 0 ATP2A2 488 broad.mit.edu 37 12 110783101 110783101 + Silent SNP G G C TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr12:110783101G>C ENST00000395494.2 + 17 3137 c.2574G>C c.(2572-2574)gtG>gtC p.V858V ATP2A2_ENST00000539276.2_Silent_p.V885V|ATP2A2_ENST00000308664.6_Silent_p.V885V P16615 AT2A2_HUMAN ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 885 ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 TTGAAGGCGTGGATTGTGCAA 0.443000 6 680 0 0 1 0 0 PANK2 80025 broad.mit.edu 37 20 3899375 3899375 + Missense_Mutation SNP C C T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr20:3899375C>T ENST00000497424.1 + 6 1032 c.721C>T c.(721-723)Cgg>Tgg p.R241W PANK2_ENST00000316562.4_Missense_Mutation_p.R532W|PANK2_ENST00000336066.3_3'UTR NM_024960.4|NM_153640.2 NP_079236.3|NP_705904.1 Q9BZ23 PANK2_HUMAN pantothenate kinase 2 532 Poly-Glu. cell death|coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial intermembrane space|nucleus ATP binding|pantothenate kinase activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 GATCGCCATGCGGCTTTTGGC 0.388000 6 816 0 0 1 0 0 COG8 84342 broad.mit.edu 37 16 69368489 69368489 + Missense_Mutation SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr16:69368489G>A ENST00000306875.4 - 3 1462 c.1348C>T c.(1348-1350)Cgc>Tgc p.R450C COG8_ENST00000562081.1_Missense_Mutation_p.R450C NM_032382.4 NP_115758.3 Q96MW5 COG8_HUMAN component of oligomeric golgi complex 8 450 protein transport Golgi membrane|Golgi transport complex breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1) 9 CAGCAGAGGCGCAGATCATTG 0.592000 46 193 0 0 1 0 0 RP11-1407O15.2 0 broad.mit.edu 37 17 36358981 36358981 + Missense_Mutation SNP C C T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr17:36358981C>T ENST00000312412.4 - 6 709 c.710G>A c.(709-711)cGc>cAc p.R237H RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.R82H kidney(1)|lung(3) 4 AACAGGTGTGCGGGCAAACTT 0.353000 6 867 0 0 1 0 0 PLCE1 51196 broad.mit.edu 37 10 96018889 96018889 + Missense_Mutation SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr10:96018889G>A ENST00000260766.3 + 13 4430 c.3796G>A c.(3796-3798)Gat>Aat p.D1266N PLCE1_ENST00000371375.1_Missense_Mutation_p.D958N|PLCE1_ENST00000371380.2_Missense_Mutation_p.D1266N|PLCE1_ENST00000371385.3_Missense_Mutation_p.D958N NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 1266 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) AAACACCAGCGATCTTCAGCC 0.468000 85 468 0 0 1 0 0 TGM4 7047 broad.mit.edu 37 3 44943132 44943132 + Missense_Mutation SNP C C A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr3:44943132C>A ENST00000296125.4 + 7 842 c.774C>A c.(772-774)aaC>aaA p.N258K NM_003241.3 NP_003232.2 P49221 TGM4_HUMAN transglutaminase 4 258 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) AGTACTACAACACGAAGCAGG 0.597000 30 159 2.65835e-16 3.07909e-16 1 1 0 PTPN14 5784 broad.mit.edu 37 1 214557484 214557484 + Missense_Mutation SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr1:214557484G>A ENST00000366956.5 - 13 1908 c.1714C>T c.(1714-1716)Cgg>Tgg p.R572W PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 572 Poly-Pro. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) GGTCGTGGCCGTGGGTAGGGG 0.652000 57 240 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195512118 195512118 + Silent SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr3:195512118G>A ENST00000463781.3 - 2 6792 c.6333C>T c.(6331-6333)acC>acT p.T2111T MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.T2111T|MUC4_ENST00000349607.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 880 EGF-like 2. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) CATGAAGAGCGGTGGCGTGAC 0.572000 3 8 0 0 1 0 0 NCOA3 8202 broad.mit.edu 37 20 46279833 46279833 + Silent SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr20:46279833G>A ENST00000372004.3 + 20 3963 c.3747G>A c.(3745-3747)caG>caA p.Q1249Q NCOA3_ENST00000371997.3_Silent_p.Q1244Q|NCOA3_ENST00000371998.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1179Q NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 1253 Acetyltransferase.|Poly-Gln. Missing. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 agcagcagcagcaacagcagc 0.547000 6 280 0 0 1 0 0 IGHG2 0 broad.mit.edu 37 14 106110036 106110036 + RNA SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr14:106110036G>A ENST00000390545.2 - 0 581 ACTCCTTGCCGTTCAGCCAGT 0.582000 8 1294 0 0 1 0 0 SORCS2 57537 broad.mit.edu 37 4 7691260 7691260 + Silent SNP C C T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr4:7691260C>T ENST00000507866.2 + 11 1645 c.1536C>T c.(1534-1536)taC>taT p.Y512Y SORCS2_ENST00000329016.9_Silent_p.Y340Y NM_020777.2 NP_065828.2 Q96PQ0 SORC2_HUMAN sortilin-related VPS10 domain containing receptor 2 512 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 42 ACAACCCCTACGTATCAGGCA 0.592000 10 51 0 0 1 0 0 CHD4 1108 broad.mit.edu 37 12 6715504 6715504 + Silent SNP C C A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr12:6715504C>A ENST00000309577.6 - 2 199 c.36G>T c.(34-36)tcG>tcT p.S12S CHD4_ENST00000544484.1_Silent_p.S12S|CHD4_ENST00000357008.2_Silent_p.S12S|CHD4_ENST00000544040.1_Silent_p.S12S Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 12 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 CACTGCCCGCCGAGCAGGGGG 0.672000 4 246 0.217242 0.222777 1 1 0 P2RY1 5028 broad.mit.edu 37 3 152554482 152554482 + Missense_Mutation SNP C C T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr3:152554482C>T ENST00000305097.3 + 1 1747 c.911C>T c.(910-912)gCc>gTc p.A304V NM_002563.3 NP_002554.1 P47900 P2RY1_HUMAN purinergic receptor P2Y, G-protein coupled, 1 304 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2) 23 LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11) AGGGTTTATGCCACGTATCAG 0.478000 5 482 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49426114 49426114 + Missense_Mutation SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr12:49426114G>A ENST00000301067.7 - 39 12373 c.12374C>T c.(12373-12375)tCt>tTt p.S4125F NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TGAGGCCTCAGAAGATGATCC 0.607000 22 114 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C G rs121913530 TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr12:25398285C>G ENST00000311936.3 - 2 225 c.34G>C c.(34-36)Ggt>Cgt p.G12R KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 34 271 0 0 1 0 0 HIST1H2BF 8343 broad.mit.edu 37 6 26200004 26200004 + Missense_Mutation SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr6:26200004G>A ENST00000359985.1 + 1 257 c.218G>A c.(217-219)cGc>cAc p.R73H NM_003522.3 NP_003513.1 P62807 H2B1C_HUMAN histone cluster 1, H2bf 73 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3) 17 all_hematologic(11;0.196) ATCTTCGAGCGCATCGCTGGC 0.607000 7 797 0 0 1 0 0 ZNF718 255403 broad.mit.edu 37 4 155843 155843 + RNA SNP C C T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr4:155843C>T ENST00000510175.1 + 0 1278 Q3SXZ3 ZN718_HUMAN zinc finger protein 718 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18) GTAAAGAATGCGGGAAAGCTT 0.358000 12 76 0 0 1 0 0 FAM208B 54906 broad.mit.edu 37 10 5791188 5791188 + Missense_Mutation SNP A A G TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr10:5791188A>G ENST00000328090.5 + 15 6429 c.5804A>G c.(5803-5805)aAa>aGa p.K1935R NM_017782.4 NP_060252.4 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 1935 AAAGAACTCAAAGATACCATG 0.517000 24 181 0 0 1 0 0 OR2C3 81472 broad.mit.edu 37 1 247695055 247695055 + Silent SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr1:247695055G>A ENST00000366487.3 - 2 1120 c.759C>T c.(757-759)taC>taT p.Y253Y GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000463359.1_Intron NM_198074.4 NP_932340.3 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, member 3 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2) 43 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) TGATGCTCCCGTAAAACAGAG 0.547000 5 347 0 0 1 0 0 ARHGEF5 7984 broad.mit.edu 37 7 144060770 144060770 + Silent SNP T T C rs141931104 by1000genomes TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr7:144060770T>C ENST00000056217.5 + 2 1182 c.1008T>C c.(1006-1008)aaT>aaC p.N336N NM_005435.3 NP_005426.2 Q12774 ARHG5_HUMAN Rho guanine nucleotide exchange factor (GEF) 5 336 intracellular signal transduction|regulation of Rho protein signal transduction intracellular GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity p.N336N(5) breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Melanoma(164;0.14) CAGAAGAGAATAGGGCGGACT 0.512000 5 431 0 0 1 0 0 AC004702.2 0 broad.mit.edu 37 17 20224797 20224797 + RNA SNP C C T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr17:20224797C>T ENST00000580225.1 + 0 105 CCDC144CP_ENST00000340196.4_RNA GGTGGAAAAACAGCGTCGGCA 0.637000 5 417 0 0 1 0 0 CPT1A 1374 broad.mit.edu 37 11 68562300 68562300 + Missense_Mutation SNP C C T rs144866081 TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr11:68562300C>T ENST00000265641.5 - 8 1005 c.851G>A c.(850-852)cGc>cAc p.R284H CPT1A_ENST00000539743.1_Missense_Mutation_p.R284H|CPT1A_ENST00000376618.2_Missense_Mutation_p.R284H|CPT1A_ENST00000540367.1_Missense_Mutation_p.R284H|CPT1A_ENST00000538994.1_Missense_Mutation_p.R36H NM_001876.3 NP_001867.2 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A (liver) 284 carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) GTCCAGTTTGCGCCTGTAAAG 0.433000 6 400 0 0 1 0 0 CRIPAK 285464 broad.mit.edu 37 4 1388986 1388986 + Silent SNP G G A rs71299249 TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr4:1388986G>A ENST00000324803.4 + 1 3647 c.687G>A c.(685-687)ccG>ccA p.P229P NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 229 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) CGGAGTGCCCGCCTGCTCACA 0.672000 9 1026 0 0 1 0 0 FNDC7 163479 broad.mit.edu 37 1 109270590 109270590 + Silent SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr1:109270590G>A ENST00000370017.3 + 7 1549 c.1272G>A c.(1270-1272)tcG>tcA p.S424S FNDC7_ENST00000271311.2_Silent_p.S425S NM_001144937.1 NP_001138409.1 Q5VTL7 FNDC7_HUMAN fibronectin type III domain containing 7 425 Fibronectin type-III 5. extracellular region breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1) 20 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) GCACCCTTTCGGCTCTAGAGT 0.483000 72 407 0 0 1 0 0 WASH2P 0 broad.mit.edu 37 2 114355998 114355998 + RNA SNP C C G TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr2:114355998C>G ENST00000538033.2 + 0 2178 CCAAGGTGGGCACTTGATGTC 0.612000 4 39 0 0 1 0 0 OTUD4 54726 broad.mit.edu 37 4 146059041 146059041 + Silent SNP A A G TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr4:146059041A>G ENST00000454497.2 - 21 2828 c.2691T>C c.(2689-2691)caT>caC p.H897H OTUD4_ENST00000447906.2_Silent_p.H962H|OTUD4_ENST00000455611.2_Intron NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 961 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) GAGTGGGAGGATGAGCCTTTC 0.478000 5 524 0 0 1 0 0 KRT32 3882 broad.mit.edu 37 17 39619177 39619177 + Silent SNP C C T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr17:39619177C>T ENST00000225899.3 - 6 1225 c.1122G>A c.(1120-1122)cgG>cgA p.R374R NM_002278.3 NP_002269.3 Q14532 K1H2_HUMAN keratin 32 374 Coil 2.|Rod. epidermis development intermediate filament protein binding|structural molecule activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(137;0.000812) CCTGGTTCTGCCGCTCCAGGT 0.647000 5 458 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70634978 70634978 + Nonsense_Mutation SNP G G T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr14:70634978G>T ENST00000381269.2 - 2 915 c.162C>A c.(160-162)tgC>tgA p.C54* SLC8A3_ENST00000528359.1_Nonsense_Mutation_p.C54*|SLC8A3_ENST00000356921.2_Nonsense_Mutation_p.C54*|SLC8A3_ENST00000357887.3_Nonsense_Mutation_p.C54*|SLC8A3_ENST00000534137.1_Nonsense_Mutation_p.C54* NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 54 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) CACCCTCCTTGCAGTCCGATG 0.542000 39 160 4.14481e-20 4.87091e-20 1 1 0 TUBBP5 0 broad.mit.edu 37 9 141070139 141070139 + RNA SNP C C T rs143443709 by1000genomes TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr9:141070139C>T ENST00000503395.1 + 0 1219 p.L85F(2) CGGGCAGGTCCTCAGGCCAGA 0.667000 5 286 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28543263 28543263 + Missense_Mutation SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr6:28543263G>A ENST00000452236.2 - 3 1836 c.1219C>T c.(1219-1221)Cgg>Tgg p.R407W NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 407 Integrase catalytic. DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 TTTAATGACCGCAAAAAAGTT 0.373000 5 339 0 0 1 0 0 TAF5L 27097 broad.mit.edu 37 1 229730353 229730353 + Silent SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr1:229730353G>A ENST00000258281.2 - 5 1626 c.1461C>T c.(1459-1461)ggC>ggT p.G487G TAF5L_ENST00000366676.1_Silent_p.G487G NM_014409.3 NP_055224.1 O75529 TAF5L_HUMAN TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa 487 histone H3 acetylation|transcription from RNA polymerase II promoter STAGA complex|transcription factor TFTC complex sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1) 11 Breast(184;0.193)|Ovarian(103;0.249) Prostate(94;0.167) GCTGGTCCTCGCCAGCAGACG 0.577000 6 532 0 0 1 0 0 HS3ST4 9951 broad.mit.edu 37 16 26147120 26147120 + Missense_Mutation SNP A A G TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr16:26147120A>G ENST00000331351.5 + 2 1314 c.922A>G c.(922-924)Atc>Gtc p.I308V HS3ST4_ENST00000475436.1_3'UTR NM_006040.2 NP_006031.2 Q9Y661 HS3S4_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 4 308 heparan sulfate proteoglycan metabolic process extracellular region|Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(2)|endometrium(3)|large_intestine(1)|lung(9) 15 GBM - Glioblastoma multiforme(48;0.0988) GAAACCCGAGATCCCCACCTT 0.542000 104 625 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296167 39296167 + Silent SNP A A G TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr17:39296167A>G ENST00000345847.4 - 1 572 c.573T>C c.(571-573)atT>atC p.I191I NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 187 keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 GGCAGGTGGAAATGACACAGG 0.627000 5 31 0 0 1 0 0 DRD5 0 broad.mit.edu 37 4 9784028 9784028 + Silent SNP T T C rs2227841 byFrequency TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr4:9784028T>C ENST00000304374.2 + 1 771 c.375T>C c.(373-375)acT>acC p.T125T NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 125 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) TGTGCTCCACTGCCTCCATCC 0.622000 6 175 0 0 1 0 0 SGOL2 151246 broad.mit.edu 37 2 201437658 201437658 + Silent SNP A A G TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr2:201437658A>G ENST00000357799.4 + 7 2687 c.2589A>G c.(2587-2589)caA>caG p.Q863Q NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) 863 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding p.Q863H(1) NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 ATGAATTTCAAACAGTTGATC 0.318000 14 483 0 0 1 0 0 MUSK 4593 broad.mit.edu 37 9 113431242 113431242 + Missense_Mutation SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr9:113431242G>A ENST00000416899.2 + 1 184 c.58G>A c.(58-60)Gga>Aga p.G20R MUSK_ENST00000374440.3_5'UTR|MUSK_ENST00000374448.4_Missense_Mutation_p.G20R|MUSK_ENST00000189978.5_Missense_Mutation_p.G20R O15146 MUSK_HUMAN muscle, skeletal, receptor tyrosine kinase 20 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 49 TGCCTTCAGCGGAACTGAGAA 0.438000 6 677 0 0 1 0 0 USP37 57695 broad.mit.edu 37 2 219321859 219321859 + Missense_Mutation SNP C C A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr2:219321859C>A ENST00000258399.3 - 24 3081 c.2669G>T c.(2668-2670)cGg>cTg p.R890L USP37_ENST00000454775.1_Missense_Mutation_p.R890L|USP37_ENST00000415516.1_Missense_Mutation_p.R796L|USP37_ENST00000418019.1_Missense_Mutation_p.R890L NM_020935.2 NP_065986.2 Q86T82 UBP37_HUMAN ubiquitin specific peptidase 37 890 ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1) 35 Renal(207;0.0915) Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487) ACTGATGAGCCGGTACGAATG 0.353000 4 127 0.00909568 0.00957127 1 1 0 PCLO 27445 broad.mit.edu 37 7 82784471 82784471 + Missense_Mutation SNP A A G TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr7:82784471A>G ENST00000423517.2 - 2 1823 c.1486T>C c.(1486-1488)Tca>Cca p.S496P PCLO_ENST00000333891.8_Missense_Mutation_p.S496P NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 442 10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.S496P(6)|p.?(3) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGCTTTGCTGAGCCAGGCTGT 0.607000 23 632 0 0 1 0 0 RCOR1 23186 broad.mit.edu 37 14 103174893 103174893 + Missense_Mutation SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr14:103174893G>A ENST00000262241.6 + 6 978 c.752G>A c.(751-753)cGg>cAg p.R251Q RCOR1_ENST00000570597.1_Missense_Mutation_p.R248Q NM_015156.3 NP_055971.2 Q9UKL0 RCOR1_HUMAN REST corepressor 1 248 Interaction with HDAC1. blood coagulation|histone H4 deacetylation|interspecies interaction between organisms transcriptional repressor complex protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 12 CGCCATGCCCGGAAACAAAAA 0.463000 7 893 0 0 1 0 0 TNPO2 30000 broad.mit.edu 37 19 12826533 12826533 + Missense_Mutation SNP C C T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr19:12826533C>T ENST00000425528.1 - 6 703 c.346G>A c.(346-348)Gct>Act p.A116T TNPO2_ENST00000592287.1_Missense_Mutation_p.A116T|TNPO2_ENST00000589956.1_5'UTR|TNPO2_ENST00000450764.2_Missense_Mutation_p.A116T|TNPO2_ENST00000588216.1_Missense_Mutation_p.A116T|TNPO2_ENST00000441499.1_Missense_Mutation_p.A116T|TNPO2_ENST00000356861.5_Missense_Mutation_p.A116T O14787 TNPO2_HUMAN transportin 2 116 intracellular protein transport cytoplasm|nucleus nuclear localization sequence binding|protein binding|protein transporter activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CCCTTGGAAGCGATGGTGGTG 0.632000 9 78 0 0 1 0 0 CCT6P3 0 broad.mit.edu 37 7 64530103 64530103 + RNA SNP G G A rs137873032 by1000genomes TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr7:64530103G>A ENST00000426828.1 + 0 923 NR_033416.1 TGACTGCTTGGGACATGCAGG 0.388000 5 208 0 0 1 0 0 ZNF254 9534 broad.mit.edu 37 19 24309874 24309874 + Missense_Mutation SNP G G T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr19:24309874G>T ENST00000357002.4 + 4 1187 c.1072G>T c.(1072-1074)Gct>Tct p.A358S ZNF254_ENST00000342944.6_Missense_Mutation_p.A273S NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2 NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3 O75437 ZN254_HUMAN zinc finger protein 254 358 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) ATGTGGCAAAGCTTTTAGCCA 0.398000 5 367 1.23904e-05 1.3299e-05 1 1 0 CYLC1 1538 broad.mit.edu 37 X 83129622 83129622 + Missense_Mutation SNP C C A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chrX:83129622C>A ENST00000329312.4 + 4 1943 c.1906C>A c.(1906-1908)Cca>Aca p.P636T NM_021118.1 NP_066941.1 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head cytoskeleton 1 636 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 58 ACCTCCAAAACCAAGATATGC 0.383000 28 104 1.12875e-08 1.27083e-08 1 1 0 DRD5 0 broad.mit.edu 37 4 9784063 9784063 + Missense_Mutation SNP A A G TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr4:9784063A>G ENST00000304374.2 + 1 806 c.410A>G c.(409-411)gAc>gGc p.D137G NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 137 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane p.D137G(1) NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) ATCAGCGTGGACCGCTACTGG 0.612000 5 165 0 0 1 0 0 SRRT 51593 broad.mit.edu 37 7 100484755 100484755 + Missense_Mutation SNP C C T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr7:100484755C>T ENST00000388793.4 + 15 2126 c.1906C>T c.(1906-1908)Ccc>Tcc p.P636S SRRT_ENST00000432932.1_Missense_Mutation_p.P636S|SRRT_ENST00000347433.4_Missense_Mutation_p.P637S|SRRT_ENST00000457580.2_Missense_Mutation_p.P637S NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 637 cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 GGACGAGATGCCCAATCGCTG 0.572000 7 1084 0 0 1 0 0 LRRC27 80313 broad.mit.edu 37 10 134165170 134165170 + Nonsense_Mutation SNP C C T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr10:134165170C>T ENST00000392638.2 + 8 1276 c.1081C>T c.(1081-1083)Cga>Tga p.R361* LRRC27_ENST00000368613.4_Missense_Mutation_p.A329V|LRRC27_ENST00000368615.3_Missense_Mutation_p.A329V|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368612.1_Missense_Mutation_p.A267V|LRRC27_ENST00000368610.3_Missense_Mutation_p.A267V|LRRC27_ENST00000432555.2_Missense_Mutation_p.A202V|LRRC27_ENST00000344079.5_Nonsense_Mutation_p.R361*|LRRC27_ENST00000368614.3_Missense_Mutation_p.A329V Q9C0I9 LRC27_HUMAN leucine rich repeat containing 27 0 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1) 18 all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218) TACCAAATGGCGATCCGAGCA 0.522000 6 923 0 0 1 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73067381 73067381 + Silent SNP C C T rs113094822 TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr11:73067381C>T ENST00000263674.3 + 6 4175 c.3825C>T c.(3823-3825)atC>atT p.I1275I NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1275 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 AGGCTCACATCGAGGGCATGG 0.647000 20 99 0 0 1 0 0 LAMP2 0 broad.mit.edu 37 X 119575595 119575595 + Silent SNP C C T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chrX:119575595C>T ENST00000371335.4 - 8 1219 c.1083G>A c.(1081-1083)aaG>aaA p.K361K LAMP2_ENST00000538785.1_Silent_p.K250K|LAMP2_ENST00000434600.2_Silent_p.K361K|LAMP2_ENST00000200639.4_Silent_p.K361K|LAMP2_ENST00000540603.1_Silent_p.K314K NM_013995.2 NP_054701.1 P13473 LAMP2_HUMAN lysosomal-associated membrane protein 2 361 Second lumenal domain. platelet activation|platelet degranulation endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2) 15 CTGTAGAATACTTTCCTTGTG 0.343000 57 125 0 0 1 0 0 HTR2C 3358 broad.mit.edu 37 X 114141583 114141583 + Missense_Mutation SNP T T G TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chrX:114141583T>G ENST00000276198.1 + 6 1710 c.982T>G c.(982-984)Ttc>Gtc p.F328V HTR2C_ENST00000371950.3_3'UTR|HTR2C_ENST00000371951.1_Missense_Mutation_p.F328V NM_000868.2 NP_000859.1 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 328 cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) GTGCCCATTTTTCATTACCAA 0.403000 4 329 0 0 1 0 0 CES1 1066 broad.mit.edu 37 16 55860205 55860205 + Missense_Mutation SNP C C A rs5023782 TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr16:55860205C>A ENST00000422046.2 - 3 541 c.260G>T c.(259-261)tGc>tTc p.C87F CES1_ENST00000360526.3_Missense_Mutation_p.C88F|CES1_ENST00000361503.4_Missense_Mutation_p.C87F|CES1_ENST00000566555.1_5'UTR P23141 EST1_HUMAN carboxylesterase 1 87 response to toxin endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity p.C88Y(1) all cancers(182;0.13)|Epithelial(162;0.137) Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691) ATCTTGGGTGCACCTGGGGAG 0.502000 7 448 1.6384e-10 1.8708e-10 1 1 0 AQP9 366 broad.mit.edu 37 15 58476236 58476236 + Missense_Mutation SNP C C G rs76614170 by1000genomes TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr15:58476236C>G ENST00000219919.4 + 6 1160 c.790C>G c.(790-792)Ctt>Gtt p.L264V AQP9_ENST00000536493.1_Missense_Mutation_p.L264V|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Missense_Mutation_p.L199V NM_020980.3 NP_066190.2 O43315 AQP9_HUMAN aquaporin 9 264 cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis integral to plasma membrane|intracellular membrane-bounded organelle amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1) 21 GBM - Glioblastoma multiforme(80;0.16) CATCTATGTTCTTGTCATTGA 0.433000 107 496 0 0 1 0 0 DBC1 0 broad.mit.edu 37 9 121929760 121929760 + Nonsense_Mutation SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr9:121929760G>A ENST00000265922.3 - 8 2349 c.1888C>T c.(1888-1890)Cga>Tga p.R630* DBC1_ENST00000482797.1_Intron NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 630 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 GTCTCATTTCGCAGTAGGGTA 0.537000 135 485 0 0 1 0 0 SHC1 6464 broad.mit.edu 37 1 154940985 154940985 + Missense_Mutation SNP C C T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr1:154940985C>T ENST00000448116.2 - 4 956 c.736G>A c.(736-738)Gca>Aca p.A246T SHC1_ENST00000368453.4_Missense_Mutation_p.A136T|SHC1_ENST00000368445.5_Missense_Mutation_p.A246T|SHC1_ENST00000368450.1_Missense_Mutation_p.A136T|SHC1_ENST00000368449.4_Missense_Mutation_p.A17T|SHC1_ENST00000606391.1_Missense_Mutation_p.A47T NM_001130040.1 NP_001123512.1 P29353 SHC1_HUMAN SHC (Src homology 2 domain containing) transforming protein 1 246 PID. activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth cytosol|mitochondrial matrix|Shc-EGFR complex epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 20 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) TTGCAGTCTGCGGCCATGAGG 0.552000 9 1102 0 0 1 0 0 FUBP1 8880 broad.mit.edu 37 1 78430650 78430650 + Silent SNP G G T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr1:78430650G>T ENST00000370767.1 - 9 727 c.640C>A c.(640-642)Cgg>Agg p.R214R FUBP1_ENST00000436586.2_Silent_p.R235R|FUBP1_ENST00000370768.2_Silent_p.R214R Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 214 KH 2. transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3) 17 ACTCCAGCCCGTTCCTGTTAC 0.358000 """F, N""" oligodendroglioma 29 471 1.2476e-16 1.45553e-16 1 1 0 RXRG 6258 broad.mit.edu 37 1 165376097 165376097 + Missense_Mutation SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr1:165376097G>A ENST00000359842.5 - 9 1498 c.1196C>T c.(1195-1197)gCc>gTc p.A399V NM_001256570.1|NM_006917.4 NP_001243499.1|NP_008848.1 P48443 RXRG_HUMAN retinoid X receptor, gamma 399 Ligand-binding (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 38 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755) CTCAAGGGTGGCATAAACCTT 0.522000 5 353 0 0 1 0 0 BCL6 604 broad.mit.edu 37 3 187447157 187447157 + Missense_Mutation SNP C C T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr3:187447157C>T ENST00000406870.2 - 5 1402 c.1036G>A c.(1036-1038)Gag>Aag p.E346K BCL6_ENST00000232014.4_Missense_Mutation_p.E346K|BCL6_ENST00000450123.2_Missense_Mutation_p.E346K|RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron NM_001706.4 NP_001697.2 P41182 BCL6_HUMAN B-cell CLL/lymphoma 6 346 negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 40 all_cancers(143;9.45e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0141) CTGCAGGACTCTGTGGGCGAG 0.587000 """T, Mis""" """IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R, POU2AF1, ARHH, EIF4A2, SFRS3""" """NHL, CLL""" 127 685 0 0 1 0 0 BVES 11149 broad.mit.edu 37 6 105573335 105573335 + Missense_Mutation SNP T T C TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr6:105573335T>C ENST00000314641.5 - 4 686 c.470A>G c.(469-471)aAg>aGg p.K157R BVES_ENST00000446408.2_Missense_Mutation_p.K157R|BVES_ENST00000336775.5_Missense_Mutation_p.K157R NM_001199563.1 NP_001186492.1 Q8NE79 POPD1_HUMAN blood vessel epicardial substance 157 epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport integral to membrane|lateral plasma membrane|tight junction structural molecule activity p.K157R(1) NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1) 21 all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238) AGTTTGGCCCTTTTTCAAGGT 0.438000 7 782 0 0 1 0 0 PAQR3 152559 broad.mit.edu 37 4 79847790 79847790 + Missense_Mutation SNP G G T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr4:79847790G>T ENST00000512733.1 - 4 800 c.587C>A c.(586-588)aCg>aAg p.T196K PAQR3_ENST00000380645.4_Missense_Mutation_p.T196K|PAQR3_ENST00000515541.1_5'UTR|PAQR3_ENST00000295462.3_3'UTR NM_001040202.1 NP_001035292.1 Q6TCH7 PAQR3_HUMAN progestin and adipoQ receptor family member III 196 Golgi membrane|integral to membrane receptor activity breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 8 CCATTGCTGCGTGAGGTAATT 0.458000 92 503 8.34767e-46 9.88216e-46 1 1 0 KRT76 51350 broad.mit.edu 37 12 53165942 53165942 + Missense_Mutation SNP C C T rs61730598 byFrequency TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr12:53165942C>T ENST00000332411.2 - 5 1126 c.1073G>A c.(1072-1074)cGc>cAc p.R358H NM_015848.4 NP_056932.2 Q01546 K22O_HUMAN keratin 76 358 Coil 2.|Rod. cytoskeleton organization keratin filament structural molecule activity p.R358H(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 ATACTGGGCGCGGACCTCGGC 0.587000 4 177 0 0 1 0 0 CATSPER2 117155 broad.mit.edu 37 15 43924970 43924970 + Silent SNP G G T rs140242525 TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr15:43924970G>T ENST00000396879.1 - 12 1447 c.1335C>A c.(1333-1335)tcC>tcA p.S445S CATSPER2_ENST00000321596.5_Silent_p.S447S|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000381761.1_Silent_p.S451S|CATSPER2_ENST00000355438.2_Intron|CATSPER2_ENST00000354127.4_Silent_p.S445S Q96P56 CTSR2_HUMAN cation channel, sperm associated 2 447 Ser-rich. cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|protein binding|voltage-gated ion channel activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 22 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) aggatgtggaggagacacagg 0.378000 5 492 0.014758 0.015231 1 1 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128671 45128671 + RNA SNP T T G rs1056072 by1000genomes TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr17:45128671T>G ENST00000575173.1 - 0 418 GCTCACAAAATAAGTTCCAGG 0.323000 6 440 0 0 1 0 0 TRAPPC12 51112 broad.mit.edu 37 2 3392315 3392315 + Silent SNP C C T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr2:3392315C>T ENST00000324266.5 + 2 1116 c.921C>T c.(919-921)aaC>aaT p.N307N TRAPPC12_ENST00000382110.2_Silent_p.N307N NM_016030.5 NP_057114.5 Q8WVT3 TTC15_HUMAN trafficking protein particle complex 12 307 binding ACCGGAGGAACGACGCCTGGC 0.677000 19 126 0 0 1 0 0 SLC16A11 162515 broad.mit.edu 37 17 6945697 6945697 + Silent SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr17:6945697G>A ENST00000308009.1 - 3 1141 c.804C>T c.(802-804)caC>caT p.H268H SLC16A11_ENST00000447225.1_Silent_p.H244H NM_153357.1 NP_699188.1 Q8NCK7 MOT11_HUMAN solute carrier family 16, member 11 268 integral to membrane|plasma membrane symporter activity endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2) 9 GGTCTAAAGCGTGGGGAGCCA 0.672000 7 30 0 0 1 0 0 FRG1 2483 broad.mit.edu 37 4 190878646 190878646 + Nonsense_Mutation SNP G G T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr4:190878646G>T ENST00000226798.4 + 6 748 c.526G>T c.(526-528)Gaa>Taa p.E176* FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 176 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus p.E176*(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) AGGAGAAGAAGAAATGATCAA 0.373000 7 217 6.31663e-08 6.9656e-08 1 1 0 GTF3C3 9330 broad.mit.edu 37 2 197657782 197657782 + Silent SNP C C T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr2:197657782C>T ENST00000263956.3 - 3 398 c.309G>A c.(307-309)gaG>gaA p.E103E GTF3C3_ENST00000409364.3_Silent_p.E103E NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 103 Glu-rich. transcription factor TFIIIC complex DNA binding|protein binding p.E103E(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 cctcctcctcctcttcttcct 0.468000 7 366 0 0 1 0 0 GPR176 11245 broad.mit.edu 37 15 40093386 40093386 + Missense_Mutation SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr15:40093386G>A ENST00000299092.3 - 4 1690 c.1492C>T c.(1492-1494)Cgg>Tgg p.R498W GPR176_ENST00000543580.1_Missense_Mutation_p.R454W|RP11-37C7.1_ENST00000558616.1_RNA|GPR176_ENST00000561100.1_Missense_Mutation_p.R499W NM_001271854.1|NM_001271855.1 NP_001258783.1|NP_001258784.1 Q14439 GP176_HUMAN G protein-coupled receptor 176 499 synaptic transmission integral to plasma membrane G-protein coupled receptor activity central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2) 23 all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123) CTCATCTTCCGCTCCACCCTG 0.512000 6 517 0 0 1 0 0 COL24A1 255631 broad.mit.edu 37 1 86590618 86590618 + Silent SNP A A C TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr1:86590618A>C ENST00000370571.2 - 3 1767 c.1401T>G c.(1399-1401)acT>acG p.T467T COL24A1_ENST00000436319.1_Silent_p.T467T NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 467 cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) CATAAAGCTCAGTTTCATAGC 0.373000 6 374 0 0 1 0 0 DAZAP1 26528 broad.mit.edu 37 19 1434829 1434829 + Missense_Mutation SNP C C G TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr19:1434829C>G ENST00000233078.4 + 12 1303 c.1142C>G c.(1141-1143)tCg>tGg p.S381W DAZAP1_ENST00000336761.6_3'UTR NM_018959.2 NP_061832.2 Q96EP5 DAZP1_HUMAN DAZ associated protein 1 381 Pro-rich. S -> T (in a breast cancer sample; somatic mutation). cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleotide binding|RNA binding breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTGCCAGGGTcggggggcccc 0.711000 13 100 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128685 45128685 + RNA SNP T T C rs145089594 by1000genomes TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr17:45128685T>C ENST00000575173.1 - 0 418 TTCCAGGATATGGCTATACTG 0.303000 6 480 0 0 1 0 0 CYP2D7P1 0 broad.mit.edu 37 22 42538870 42538870 + RNA SNP A A C rs2982057 by1000genomes TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr22:42538870A>C ENST00000358097.4 - 0 449 CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000424775.1_RNA endometrium(1) 1 CCATAGCGCGACAGGAACACC 0.687000 8 110 0 0 1 0 0 ZNF254 9534 broad.mit.edu 37 19 24309885 24309885 + Silent SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr19:24309885G>A ENST00000357002.4 + 4 1198 c.1083G>A c.(1081-1083)caG>caA p.Q361Q ZNF254_ENST00000342944.6_Silent_p.Q276Q NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2 NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3 O75437 ZN254_HUMAN zinc finger protein 254 361 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) CTTTTAGCCAGTCCTCAACCC 0.393000 5 355 0 0 1 0 0 HLA-A 3105 broad.mit.edu 37 6 29910607 29910607 + Silent SNP G G C rs72555397 TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr6:29910607G>C ENST00000396634.1 + 4 488 c.147G>C c.(145-147)gtG>gtC p.V49V HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V P30443 1A01_HUMAN major histocompatibility complex, class I, A 49 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.V49V(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TCATCGCCGTGGGCTACGTGG 0.692000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 7 168 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114270000 114270000 + Silent SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr7:114270000G>A ENST00000393500.3 + 11 1132 c.312G>A c.(310-312)caG>caA p.Q104Q FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q O15409 FOXP2_HUMAN forkhead box P2 179 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q204Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcaacaacagcagcagcagc 0.498000 5 296 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578394 7578394 + Missense_Mutation SNP T T C TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr17:7578394T>C ENST00000420246.2 - 5 668 c.536A>G c.(535-537)cAt>cGt p.H179R TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000269305.4_Missense_Mutation_p.H179R NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 179 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; 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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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) GCAGCGCTCATGGTGGGGGCA 0.642000 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) 63 216 0 0 1 0 0 PCDHB7 0 broad.mit.edu 37 5 140553994 140553994 + Silent SNP G G T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr5:140553994G>T ENST00000231137.3 + 1 1752 c.1578G>T c.(1576-1578)gcG>gcT p.A526A NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 526 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.A526A(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCTGCAGGCGTTCGAGTTCC 0.706000 5 395 7.03913e-09 7.98098e-09 1 1 0 DYSF 8291 broad.mit.edu 37 2 71906211 71906211 + Missense_Mutation SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr2:71906211G>A ENST00000258104.3 + 52 6069 c.5792G>A c.(5791-5793)cGc>cAc p.R1931H DYSF_ENST00000409582.3_Missense_Mutation_p.R1969H|DYSF_ENST00000409366.1_Missense_Mutation_p.R1953H|DYSF_ENST00000429174.2_Missense_Mutation_p.R1952H|DYSF_ENST00000413539.2_Missense_Mutation_p.R1962H|DYSF_ENST00000394120.2_Missense_Mutation_p.R1932H|DYSF_ENST00000410041.1_Missense_Mutation_p.R1949H|DYSF_ENST00000410020.3_Missense_Mutation_p.R1970H|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409651.1_Missense_Mutation_p.R1963H|DYSF_ENST00000409762.1_Missense_Mutation_p.R1948H|DYSF_ENST00000409744.1_Missense_Mutation_p.R1939H NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1931 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 GATCTCAACCGCATGCCCAAG 0.547000 4 261 0 0 1 0 0 ORC1 4998 broad.mit.edu 37 1 52838869 52838869 + Missense_Mutation SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr1:52838869G>A ENST00000371568.3 - 17 2788 c.2570C>T c.(2569-2571)gCg>gTg p.A857V ORC1_ENST00000371566.1_Missense_Mutation_p.A857V NM_001190818.1|NM_001190819.1|NM_004153.3 NP_001177747.1|NP_001177748.1|NP_004144.2 Q13415 ORC1_HUMAN origin recognition complex, subunit 1 857 Necessary and sufficient for ORC complex assembly. cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 GTCTTTCAGCGCATACAGCAC 0.557000 5 606 0 0 1 0 0 OTUD4 54726 broad.mit.edu 37 4 146059006 146059006 + Missense_Mutation SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr4:146059006G>A ENST00000454497.2 - 21 2863 c.2726C>T c.(2725-2727)aCt>aTt p.T909I OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I|OTUD4_ENST00000455611.2_Intron NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 973 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) AACAGGCACAGTTTCTCTCTC 0.463000 6 585 0 0 1 0 0 RIMBP3 85376 broad.mit.edu 37 22 20457064 20457064 + Missense_Mutation SNP C C T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr22:20457064C>T ENST00000426804.1 - 1 4722 c.4238G>A c.(4237-4239)gGg>gAg p.G1413E NM_015672.1 NP_056487.1 RIMS binding protein 3 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 13 Colorectal(54;0.0993)|Melanoma(16;0.165) LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224) TCTCTTCACCCCCAGAGCTTG 0.632000 13 59 0 0 1 0 0 PDZRN3 23024 broad.mit.edu 37 3 73438995 73438995 + Missense_Mutation SNP C C T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr3:73438995C>T ENST00000263666.4 - 7 1502 c.1388G>A c.(1387-1389)cGc>cAc p.R463H PDZRN3_ENST00000479530.1_Missense_Mutation_p.R180H|PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R120H|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R185H|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R120H NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 463 PDZ 2. ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) TTCTCGGATGCGCCCATCCTT 0.468000 5 305 0 0 1 0 0 KRTAP5-5 439915 broad.mit.edu 37 11 1651241 1651241 + Silent SNP A A C TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr11:1651241A>C ENST00000399676.2 + 1 209 c.171A>C c.(169-171)ggA>ggC p.G57G NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 57 keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) gctgtgggggatgtggctccg 0.682000 10 314 0 0 1 0 0 SDS 10993 broad.mit.edu 37 12 113831803 113831803 + Silent SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr12:113831803G>A ENST00000257549.4 - 7 794 c.672C>T c.(670-672)ggC>ggT p.G224G NM_006843.2 NP_006834.2 P20132 SDHL_HUMAN serine dehydratase 224 gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process cytoplasm L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1) 11 L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) CAGTCTTCACGCCCAGGGCCT 0.577000 37 170 0 0 1 0 0 SNRNP200 23020 broad.mit.edu 37 2 96969044 96969044 + Silent SNP C C T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr2:96969044C>T ENST00000323853.5 - 3 311 c.234G>A c.(232-234)cgG>cgA p.R78R SNRNP200_ENST00000349783.5_Silent_p.R78R NM_014014.4 NP_054733.2 O75643 U520_HUMAN small nuclear ribonucleoprotein 200kDa (U5) 78 catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1) 90 TGATGTCATGCCGGTCCTCAT 0.498000 7 1293 0 0 1 0 0 ACTR8 93973 broad.mit.edu 37 3 53906488 53906488 + Nonsense_Mutation SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr3:53906488G>A ENST00000335754.3 - 10 1325 c.1225C>T c.(1225-1227)Cag>Tag p.Q409* ACTR8_ENST00000482349.1_Nonsense_Mutation_p.Q298*|ACTR8_ENST00000231909.7_Nonsense_Mutation_p.Q114* NM_022899.4 NP_075050.3 Q9H981 ARP8_HUMAN ARP8 actin-related protein 8 homolog (yeast) 409 cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111) GATCTGTGCTGCAAAGTCGTC 0.463000 6 947 0 0 1 0 0 MAP2 4133 broad.mit.edu 37 2 210560818 210560818 + Silent SNP C C T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr2:210560818C>T ENST00000360351.4 + 7 4430 c.3924C>T c.(3922-3924)agC>agT p.S1308S MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Silent_p.S1304S NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 1308 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) GGTCCCACAGCGTGCGTTTTG 0.507000 57 331 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 7 216 0 0 1 0 0 CTSD 1509 broad.mit.edu 37 11 1776217 1776217 + Missense_Mutation SNP C C T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr11:1776217C>T ENST00000236671.2 - 6 878 c.746G>A c.(745-747)gGc>gAc p.G249D RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.A120T NM_001909.4 NP_001900.1 P07339 CATD_HUMAN cathepsin D 249 cell death|proteolysis extracellular space|lysosome|melanosome aspartic-type endopeptidase activity endometrium(1)|large_intestine(4)|lung(8) 13 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GGAGTCTGTGCCACCCAGCAT 0.602000 5 424 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109371685 109371685 + Missense_Mutation SNP A A T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr2:109371685A>T ENST00000283195.6 + 17 2562 c.2436A>T c.(2434-2436)aaA>aaT p.K812N NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 812 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 CTTTACTGAAAATGATTTGCC 0.348000 6 861 0 0 1 0 0 TRIM42 287015 broad.mit.edu 37 3 140397090 140397090 + Missense_Mutation SNP G G A rs116143762 by1000genomes TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr3:140397090G>A ENST00000286349.3 + 1 210 c.19G>A c.(19-21)Gtt>Att p.V7I NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 7 Cys-rich. intracellular zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 TGCTATGTGCGTTTGCTGTCC 0.507000 5 745 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547138 132547138 + Silent SNP A A G rs35873108 byFrequency TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr12:132547138A>G ENST00000333577.4 + 48 8443 c.8334A>G c.(8332-8334)caA>caG p.Q2778Q EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389562.2_Silent_p.Q2741Q Q96L91 EP400_HUMAN E1A binding protein p400 2778 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2741Q(3)|p.Q2742Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcaacagcagcagc 0.602000 4 183 0 0 1 0 0 LILRB5 0 broad.mit.edu 37 19 54754946 54754946 + Silent SNP G G A rs146755009 by1000genomes TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr19:54754946G>A ENST00000450632.1 - 13 1766 c.1689C>T c.(1687-1689)ccC>ccT p.P563P LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 570 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ACAGTGGGGAGGGAGGAGAGG 0.577000 6 76 0 0 1 0 0 VPS13A 23230 broad.mit.edu 37 9 80020889 80020889 + Missense_Mutation SNP C C T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr9:80020889C>T ENST00000360280.3 + 70 9645 c.9385C>T c.(9385-9387)Cgc>Tgc p.R3129C VPS13A_ENST00000376646.3_Missense_Mutation_p.R65C|VPS13A_ENST00000484581.2_Missense_Mutation_p.R65C|VPS13A_ENST00000376636.3_Missense_Mutation_p.R3090C NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 3129 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 GAGAAGATTGCGCATTGAAGC 0.343000 6 438 0 0 1 0 0 DNMT3A 1788 broad.mit.edu 37 2 25505406 25505406 + Missense_Mutation SNP C C T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr2:25505406C>T ENST00000264709.3 - 4 689 c.352G>A c.(352-354)Gga>Aga p.G118R DNMT3A_ENST00000321117.5_Missense_Mutation_p.G118R|DNMT3A_ENST00000406659.3_Missense_Mutation_p.G118R NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 118 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCACCCTCTCCCTCTGCTGGG 0.657000 """Mis, F, N, S""" AML 5 297 0 0 1 0 0 STIM2 57620 broad.mit.edu 37 4 27019384 27019384 + Missense_Mutation SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr4:27019384G>A ENST00000382009.3 + 12 2093 c.1826G>A c.(1825-1827)cGt>cAt p.R609H STIM2_ENST00000412829.2_Missense_Mutation_p.R601H|STIM2_ENST00000237364.5_Missense_Mutation_p.R601H|STIM2_ENST00000467011.1_Missense_Mutation_p.R514H|STIM2_ENST00000467087.1_Missense_Mutation_p.R514H|STIM2_ENST00000465503.1_Missense_Mutation_p.R522H NM_001169118.1 NP_001162589.1 Q9P246 STIM2_HUMAN stromal interaction molecule 2 514 activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium channel regulator activity|calcium ion binding|protein binding p.R601L(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 25 Breast(46;0.0503) AGCCTGTGCCGTTCACGCCGC 0.597000 7 573 0 0 1 0 0 ASIC1 41 broad.mit.edu 37 12 50471790 50471790 + Silent SNP G G A rs149521223 TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr12:50471790G>A ENST00000228468.4 + 5 1102 c.717G>A c.(715-717)acG>acA p.T239T ASIC1_ENST00000447966.2_Silent_p.T239T|ASIC1_ENST00000552438.1_Silent_p.T273T NM_020039.3 NP_064423.2 P78348 ACCN2_HUMAN acid-sensing (proton-gated) ion channel 1 239 calcium ion transport|response to pH|signal transduction integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) TAGACGAGACGTCCTTCGAAG 0.567000 29 443 0 0 1 0 0 TRPV4 59341 broad.mit.edu 37 12 110234507 110234507 + Silent SNP G G T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr12:110234507G>T ENST00000418703.2 - 6 1249 c.1155C>A c.(1153-1155)atC>atA p.I385I TRPV4_ENST00000346520.2_Intron|TRPV4_ENST00000544971.1_Intron|TRPV4_ENST00000541794.1_Silent_p.I338I|TRPV4_ENST00000537083.1_Intron|TRPV4_ENST00000392719.2_Silent_p.I338I|TRPV4_ENST00000261740.2_Silent_p.I385I|TRPV4_ENST00000536838.1_Silent_p.I351I NM_001177431.1 NP_001170902.1 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, subfamily V, member 4 385 I -> V (in Ref. 1; AAG28029). actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1) 35 TGTGCTGAAAGATCTGCACAG 0.612000 11 262 1.58986e-06 1.72951e-06 1 1 0 PCDH17 27253 broad.mit.edu 37 13 58299162 58299162 + Missense_Mutation SNP T T G TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr13:58299162T>G ENST00000377918.3 + 4 3240 c.3214T>G c.(3214-3216)Ttg>Gtg p.L1072V NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 1072 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding p.L1072V(2)|p.L1072L(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CAGTCAGTACTTGCCCACTGA 0.532000 6 388 0 0 1 0 0 C5orf51 285636 broad.mit.edu 37 5 41909846 41909846 + Splice_Site SNP A A T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr5:41909846A>T ENST00000381647.2 + 3 226 c.e3-1 C5orf51_ENST00000505931.2_Splice_Site NM_175921.4 NP_787117.3 A6NDU8 CE051_HUMAN chromosome 5 open reading frame 51 p.?(1) endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 TTTTTTTTTTAGGCTATTTTG 0.294000 6 213 0 0 1 0 0 CNPY4 245812 broad.mit.edu 37 7 99720455 99720455 + Missense_Mutation SNP G G C TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr7:99720455G>C ENST00000262932.3 + 4 523 c.391G>C c.(391-393)Gtg>Ctg p.V131L CNPY4_ENST00000480692.1_3'UTR|RP11-506M12.1_ENST00000494221.1_RNA NM_152755.1 NP_689968.1 Q8N129 CNPY4_HUMAN canopy FGF signaling regulator 4 131 extracellular region breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GCAGAAGGGGGTGAAGGTGGA 0.557000 12 70 0 0 1 0 0 CDH18 1016 broad.mit.edu 37 5 19839078 19839078 + Silent SNP T T A rs148353712 TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr5:19839078T>A ENST00000507958.1 - 5 1008 c.18A>T c.(16-18)acA>acT p.T6T CDH18_ENST00000502796.1_Silent_p.T6T|CDH18_ENST00000274170.4_Silent_p.T6T|CDH18_ENST00000382275.1_Silent_p.T6T|CDH18_ENST00000511273.1_Silent_p.T6T|CDH18_ENST00000506372.1_Silent_p.T6T Q13634 CAD18_HUMAN cadherin 18, type 2 6 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) AGATGCAAGATGTGCTAGTAA 0.428000 43 239 0 0 1 0 0 SATL1 340562 broad.mit.edu 37 X 84362345 84362345 + Nonsense_Mutation SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chrX:84362345G>A ENST00000509231.1 - 1 1709 c.1630C>T c.(1630-1632)Cga>Tga p.R544* SATL1_ENST00000332921.5_Nonsense_Mutation_p.R357*|SATL1_ENST00000395409.3_Nonsense_Mutation_p.R357* Q86VE3 SATL1_HUMAN spermidine/spermine N1-acetyl transferase-like 1 357 N-acetyltransferase activity p.R544R(1) NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1) 29 TTAATCAGTCGCAAAATTTCT 0.458000 4 231 0 0 1 0 0 NAF1 92345 broad.mit.edu 37 4 164050124 164050124 + Silent SNP T T G TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr4:164050124T>G ENST00000274054.2 - 8 1603 c.1410A>C c.(1408-1410)ccA>ccC p.P470P NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron NM_138386.2 NP_612395.2 Q96HR8 NAF1_HUMAN nuclear assembly factor 1 ribonucleoprotein 470 Pro-rich. rRNA processing|snRNA pseudouridine synthesis cytoplasm|nucleus|small nucleolar ribonucleoprotein complex protein binding|snoRNA binding NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2) 21 all_hematologic(180;0.166) Prostate(90;0.109) ggggagggggtgggggtaggg 0.522000 4 56 0 0 1 0 0 IGHM 0 broad.mit.edu 37 14 106320735 106320735 + RNA SNP C C T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr14:106320735C>T ENST00000390559.2 - 0 1074 AAGACGTCCGCGGGAGAGAAG 0.672000 19 123 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33385626 33385626 + Missense_Mutation SNP G G A rs149760238 by1000genomes TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr9:33385626G>A ENST00000537089.1 - 6 806 c.488C>T c.(487-489)cCa>cTa p.P163L AQP7_ENST00000541274.1_Silent_p.P123P|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_Missense_Mutation_p.P255L O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) TCAAAGGAATGGGCCTGGGCA 0.622000 6 362 0 0 1 0 0 RNF34 80196 broad.mit.edu 37 12 121855430 121855430 + Nonsense_Mutation SNP C C T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr12:121855430C>T ENST00000361234.5 + 3 521 c.349C>T c.(349-351)Cga>Tga p.R117* RNF34_ENST00000392465.3_Nonsense_Mutation_p.R118*|RNF34_ENST00000555076.1_Intron|RNF34_ENST00000392464.2_Nonsense_Mutation_p.R117* NM_025126.3 NP_079402.2 Q969K3 RNF34_HUMAN ring finger protein 34, E3 ubiquitin protein ligase 117 SAP 1. apoptosis endomembrane system|membrane|nuclear speck ligase activity|zinc ion binding p.R118*(1) breast(1)|large_intestine(1) 2 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233) TCAGTTAATGCGACTGAAGGT 0.428000 5 590 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664639 22664639 + RNA SNP G G A rs9306349 by1000genomes TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr22:22664639G>A ENST00000426066.1 + 0 820 NR_027293.1 CCAGCCTTCTGTAACCCAGTA 0.428000 6 128 0 0 1 0 0 MYH3 4621 broad.mit.edu 37 17 10555805 10555805 + Missense_Mutation SNP G G T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr17:10555805G>T ENST00000583535.1 - 4 367 c.280C>A c.(280-282)Ctg>Atg p.L94M MYH3_ENST00000226209.7_Missense_Mutation_p.L94M NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 94 Myosin head-like. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 AGGTGCGTCAGCATGGCCATG 0.537000 5 416 1 1 1 1 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 11 171 0 0 1 0 0 DOCK1 1793 broad.mit.edu 37 10 129213435 129213435 + Missense_Mutation SNP C C T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr10:129213435C>T ENST00000280333.6 + 44 4494 c.4385C>T c.(4384-4386)aCc>aTc p.T1462I NM_001380.3 NP_001371.1 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 1462 DHR-2. apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) ATCGAGAGAACCATATATACA 0.448000 19 136 0 0 1 0 0 ACKR4 51554 broad.mit.edu 37 3 132319326 132319326 + Silent SNP C C T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr3:132319326C>T ENST00000249887.2 + 2 181 c.85C>T c.(85-87)Ctg>Ttg p.L29L ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000545291.1_Intron NM_016557.2|NM_178445.2 NP_057641.1|NP_848540.1 atypical chemokine receptor 4 p.L29L(1) TCAATATGAACTGATCTGTAT 0.378000 4 156 0 0 1 0 0 SETD5 55209 broad.mit.edu 37 3 9490247 9490247 + Nonsense_Mutation SNP C C A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr3:9490247C>A ENST00000402466.1 + 17 2753 c.1985C>A c.(1984-1986)tCa>tAa p.S662* SETD5_ENST00000407969.1_Nonsense_Mutation_p.S779*|SETD5_ENST00000302463.6_Nonsense_Mutation_p.S662*|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000406341.1_Nonsense_Mutation_p.S760*|SETD5_ENST00000402198.1_Nonsense_Mutation_p.S760* Q9C0A6 SETD5_HUMAN SET domain containing 5 760 NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) CGCTTTGGCTCACCCTTTATC 0.483000 23 154 5.35356e-11 6.15659e-11 1 1 0 PRDM16 63976 broad.mit.edu 37 1 3334494 3334495 + Frame_Shift_Ins INS - - TC TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr1:3334494_3334495insTC ENST00000378398.3 + 12 2876_2877 c.2794_2795insTC c.(2794-2796)ccgfs p.P932fs PRDM16_ENST00000270722.5_Frame_Shift_Ins_p.P932fs|PRDM16_ENST00000514189.1_Frame_Shift_Ins_p.P932fs|PRDM16_ENST00000511072.1_Frame_Shift_Ins_p.P933fs|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Frame_Shift_Ins_p.P931fs|PRDM16_ENST00000441472.2_Frame_Shift_Ins_p.P931fs|PRDM16_ENST00000378391.2_Frame_Shift_Ins_p.P932fs Q9HAZ2 PRD16_HUMAN PR domain containing 16 932 Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) CCCCTTCAACTTCCGGTCCCCA 0.639 T EVI1 """MDS, AML""" 49 289 --- --- --- --- AADACL3 126767 broad.mit.edu 37 1 12785492 12785493 + Frame_Shift_Ins INS - - T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr1:12785492_12785493insT ENST00000332530.3 + 3 598_599 c.372_373insT c.(370-375)tagtttfs p.*F124fs AADACL3_ENST00000359318.5_Frame_Shift_Ins_p.*F194fs NM_001103169.1 NP_001096639.1 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase-like 3 194 hydrolase activity breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 15 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) TCATCTGCTACTGTTTTTTTCA 0.455 7 802 --- --- --- --- CDCA8 55143 broad.mit.edu 37 1 38166149 38166151 + In_Frame_Del DEL GAA GAA - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr1:38166149_38166151delGAA ENST00000373055.1 + 5 652_654 c.379_381delGAA c.(379-381)del p.E131del CDCA8_ENST00000327331.2_In_Frame_Del_p.E131del NM_001256875.1|NM_018101.3 NP_001243804.1|NP_060571.1 Q53HL2 BOREA_HUMAN cell division cycle associated 8 131 Poly-Glu.|Required for interaction with SENP3. cell division|chromosome organization|mitotic metaphase|mitotic prometaphase chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle protein binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) AGTGGAAGAGGAAGAAGAAGAAG 0.384 9 637 --- --- --- --- MUTYH 4595 broad.mit.edu 37 1 45796949 45796949 + Frame_Shift_Del DEL C C - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr1:45796949delC ENST00000450313.1 - 14 1596 c.1381delG c.(1381-1383)aafs p.E461fs MUTYH_ENST00000456914.2_Frame_Shift_Del_p.E433fs|MUTYH_ENST00000372100.5_Frame_Shift_Del_p.E444fs|MUTYH_ENST00000372104.1_Frame_Shift_Del_p.E433fs|MUTYH_ENST00000372115.3_Frame_Shift_Del_p.E447fs|MUTYH_ENST00000355498.2_Frame_Shift_Del_p.E433fs|MUTYH_ENST00000528332.2_Frame_Shift_Del_p.E142fs|MUTYH_ENST00000372110.3_Frame_Shift_Del_p.E448fs|MUTYH_ENST00000448481.1_Frame_Shift_Del_p.E444fs|MUTYH_ENST00000488731.2_Frame_Shift_Del_p.E128fs|MUTYH_ENST00000354383.6_Frame_Shift_Del_p.E434fs|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000372098.3_Frame_Shift_Del_p.E458fs|MUTYH_ENST00000529984.1_Frame_Shift_Del_p.E128fs NM_001128425.1|NM_012222.2 NP_001121897.1|NP_036354.1 Q9UIF7 MUTYH_HUMAN mutY homolog 458 Nudix hydrolase. depurination|mismatch repair nucleoplasm 4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.155) GTCTGCCCTTCCAAGGCCAGC 0.542 Mis colorectal Base excision repair (BER), DNA glycosylases MUTYH-associated polyposis 67 263 --- --- --- --- RPTN 126638 broad.mit.edu 37 1 152127845 152127848 + Frame_Shift_Del DEL TGTC TGTC - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr1:152127845_152127848delTGTC ENST00000316073.3 - 3 1791_1794 c.1727_1730delGACA c.(1726-1731)aafs p.RQ576fs NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 576 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 ACTCTGGCCTTGTCTGTCTGTCTG 0.466 7 1594 --- --- --- --- ILF2 3608 broad.mit.edu 37 1 153640096 153640096 + Frame_Shift_Del DEL T T - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr1:153640096delT ENST00000361891.4 - 6 454 c.329delA c.(328-330)agfs p.K110fs ILF2_ENST00000368681.1_Frame_Shift_Del_p.K110fs NM_001267809.1|NM_004515.3 NP_001254738.1|NP_004506.2 Q12905 ILF2_HUMAN interleukin enhancer binding factor 2 110 DZF. immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|ribonucleoprotein complex ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity cervix(1)|kidney(1)|lung(4)|skin(1) 7 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) CATTGTCCCCTTTTTATAGGA 0.453 7 1276 --- --- --- --- GPATCH4 54865 broad.mit.edu 37 1 156565503 156565504 + Frame_Shift_Ins INS - - T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr1:156565503_156565504insT ENST00000368232.4 - 8 746_747 c.614_615insA c.(613-615)aaafs p.K205fs GPATCH4_ENST00000438976.2_Frame_Shift_Ins_p.K210fs|GPATCH4_ENST00000497287.1_5'UTR NM_015590.3|NM_182679.2 NP_056405.2|NP_872620.1 Q5T3I0 GPTC4_HUMAN G patch domain containing 4 205 intracellular nucleic acid binding autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1) 17 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TTTTCTTTTTCTTTTTTTTGGG 0.535 7 356 --- --- --- --- NES 10763 broad.mit.edu 37 1 156642804 156642804 + Frame_Shift_Del DEL G G - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr1:156642804delG ENST00000368223.3 - 4 1308 c.1176delC c.(1174-1176)ccfs p.P392fs NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 392 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CCTGAGGTGTGGGGGGGATGG 0.597 11 785 --- --- --- --- NR1I3 0 broad.mit.edu 37 1 161202999 161203000 + Frame_Shift_Ins INS - - G rs139473535 by1000genomes TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr1:161202999_161203000insG ENST00000367983.4 - 4 661_662 c.367_368insC c.(367-369)ccafs p.P123fs NR1I3_ENST00000515621.1_Frame_Shift_Ins_p.P48fs|NR1I3_ENST00000367980.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000512372.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000367985.3_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000511676.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000508740.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000515452.1_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000442691.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000505005.1_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000504010.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367982.4_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367981.3_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000428574.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000437437.2_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367984.4_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367979.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000412844.2_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000506209.1_Frame_Shift_Ins_p.P94fs Q14994 NR1I3_HUMAN nuclear receptor subfamily 1, group I, member 3 123 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 15 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) GCCCATGTGGCGGGTGTGGGCC 0.564 8 1101 --- --- --- --- PARP1 142 broad.mit.edu 37 1 226570820 226570820 + Frame_Shift_Del DEL G G - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr1:226570820delG ENST00000366794.5 - 8 1219 c.1076delC c.(1075-1077)cafs p.P359fs NM_001618.3 NP_001609.2 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase 1 359 cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 44 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) GCTGGTTTCTGGGGGGAATAT 0.502 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 7 1334 --- --- --- --- OR2T33 391195 broad.mit.edu 37 1 248437112 248437112 + Frame_Shift_Del DEL T T - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr1:248437112delT ENST00000318021.2 - 1 26 c.5delA c.(4-6)ggfs p.E2fs NM_001004695.1 NP_001004695.1 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, member 33 2 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) ATTTCTCATCTCCATAATTTC 0.428 7 358 --- --- --- --- ATP6V1C2 245973 broad.mit.edu 37 2 10917819 10917820 + Frame_Shift_Del DEL AG AG - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr2:10917819_10917820delAG ENST00000272238.4 + 11 1043_1044 c.934_935delAG c.(934-936)afs p.R312fs ATP6V1C2_ENST00000381661.3_Intron NM_001039362.1 NP_001034451.1 Q8NEY4 VATC2_HUMAN ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 312 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting V-type ATPase, V1 domain endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152) GCAGACCGACAGAGAGAGAGAG 0.604 21 524 --- --- --- --- AC007682.1 0 broad.mit.edu 37 2 52032516 52032518 + RNA DEL GTG GTG - rs67440969 TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr2:52032516_52032518delGTG ENST00000440698.1 + 0 839 ggtggtggtagtggtggtggtgg 0.507 6 11 --- --- --- --- OTX1 5013 broad.mit.edu 37 2 63283259 63283261 + In_Frame_Del DEL CCA CCA - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr2:63283259_63283261delCCA ENST00000282549.2 + 5 1149_1151 c.873_875delCCA c.(871-876)ggc>gg p.GH291del OTX1_ENST00000366671.3_In_Frame_Del_p.GH291del NM_014562.3 NP_055377.1 P32242 OTX1_HUMAN orthodenticle homeobox 1 291 His-rich. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(7;0.121)|all_lung(7;0.211) AGTCCTCAGGccaccaccaccac 0.640 7 306 --- --- --- --- EIF5B 9669 broad.mit.edu 37 2 99977775 99977777 + In_Frame_Del DEL TGA TGA - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr2:99977775_99977777delTGA ENST00000289371.5 + 4 613_615 c.411_413delTGA c.(409-414)agt>ag p.SD137del NM_015904.3 NP_056988.3 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 137 regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 ACTCTGGGAGTGATGATGATGAT 0.345 7 395 --- --- --- --- CIR1 9541 broad.mit.edu 37 2 175213712 175213713 + Frame_Shift_Ins INS - - T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr2:175213712_175213713insT ENST00000342016.3 - 10 957_958 c.865_866insA c.(865-867)acafs p.T289fs CIR1_ENST00000362053.5_3'UTR NM_004882.3 NP_004873.3 Q86X95 CIR1_HUMAN corepressor interacting with RBPJ, 1 289 Lys/Ser-rich. mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing nuclear speck protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1) 15 cttcctttgtatttttttttct 0.381 8 271 --- --- --- --- AC018890.6 0 broad.mit.edu 37 2 175585079 175585079 + RNA DEL A A - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr2:175585079delA ENST00000442996.1 + 0 217 TTTCATTCTCAAAAAAAAAAA 0.368 OREG0015078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 26 --- --- --- --- GAL3ST2 64090 broad.mit.edu 37 2 242738494 242738496 + In_Frame_Del DEL TCC TCC - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr2:242738494_242738496delTCC ENST00000192314.6 + 2 175_177 c.44_46delTCC c.(43-48)atc>a p.IL15del NM_022134.2 NP_071417.2 Q9H3Q3 G3ST2_HUMAN galactose-3-O-sulfotransferase 2 15 biosynthetic process Golgi cisterna membrane|integral to membrane galactosylceramide sulfotransferase activity p.L16I(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1) 14 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) TTCCGGGTCATCCTCCTCCTCCT 0.631 8 243 --- --- --- --- CLASP2 23122 broad.mit.edu 37 3 33602361 33602361 + Frame_Shift_Del DEL T T - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr3:33602361delT ENST00000399362.4 - 28 3243 c.2890delA c.(2890-2892)tgfs p.M964fs CLASP2_ENST00000359576.5_Frame_Shift_Del_p.M956fs|CLASP2_ENST00000539981.1_Frame_Shift_Del_p.M734fs|CLASP2_ENST00000307312.7_Frame_Shift_Del_p.M446fs|CLASP2_ENST00000461133.3_Frame_Shift_Del_p.M724fs|CLASP2_ENST00000480013.1_Frame_Shift_Del_p.M744fs|CLASP2_ENST00000468888.2_Frame_Shift_Del_p.M965fs NM_015097.2 NP_055912.2 B2RTR1 B2RTR1_HUMAN cytoplasmic linker associated protein 2 966 breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 48 TCAGCACCCATTTTTTTTAGT 0.343 8 671 --- --- --- --- RBM15B 29890 broad.mit.edu 37 3 51430822 51430824 + In_Frame_Del DEL CCA CCA - rs147738916 byFrequency TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr3:51430822_51430824delCCA ENST00000323686.4 + 1 2092_2094 c.1992_1994delCCA c.(1990-1995)ggc>gg p.GH664del NM_013286.4 NP_037418.3 Q8NDT2 RB15B_HUMAN RNA binding motif protein 15B 664 His-rich. interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nucleoplasm nucleotide binding|protein binding|RNA binding endometrium(4)|large_intestine(5)|lung(3) 12 BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) AGGAACGGGGCCACCACCACCAC 0.635 7 178 --- --- --- --- RP11-325B23.2 0 broad.mit.edu 37 3 98031434 98031434 + RNA DEL A A - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr3:98031434delA ENST00000508616.1 + 0 149 OR5H8P_ENST00000394191.2_RNA TTACAATCTTAAAAAAAAAAG 0.333 7 94 --- --- --- --- TMCC1 23023 broad.mit.edu 37 3 129546680 129546682 + In_Frame_Del DEL GCA GCA - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr3:129546680_129546682delGCA ENST00000393238.3 - 3 880_882 c.540_542delTGC c.(538-543)gca>gc p.AA180del TMCC1_ENST00000426664.2_In_Frame_Del_p.AA66del NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 180 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 TGGTAGACATgcagcagcagcag 0.483 8 376 --- --- --- --- MED12L 116931 broad.mit.edu 37 3 151148114 151148116 + In_Frame_Del DEL CAG CAG - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr3:151148114_151148116delCAG ENST00000474524.1 + 42 6369_6371 c.6331_6333delCAG c.(6331-6333)del p.Q2115del MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 2115 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex p.Q2111E(1) 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) GCAGCAGACCCAGCAGCAGCAGC 0.527 7 347 --- --- --- --- LINC00969 0 broad.mit.edu 37 3 195400814 195400815 + RNA INS - - TT TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr3:195400814_195400815insTT ENST00000445430.1 + 0 1410_1411 ACCTGGTTGTCTGGTCAGGCAT 0.574 10 182 --- --- --- --- TMEM175 84286 broad.mit.edu 37 4 946206 946207 + Frame_Shift_Del DEL TG TG - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr4:946206_946207delTG ENST00000264771.4 + 7 615_616 c.430_431delTG c.(430-432)tfs p.C144fs TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs|TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs NM_032326.2 NP_115702.1 Q9BSA9 TM175_HUMAN transmembrane protein 175 144 integral to membrane NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3) 14 OV - Ovarian serous cystadenocarcinoma(23;0.0158) CTTCTTGTTCTGTGTGTGTGTG 0.515 11 769 --- --- --- --- OCIAD2 132299 broad.mit.edu 37 4 48899863 48899863 + Frame_Shift_Del DEL A A - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr4:48899863delA ENST00000508632.1 - 4 407 c.175delT c.(175-177)ctfs p.S59fs OCIAD2_ENST00000273860.4_Frame_Shift_Del_p.S59fs|OCIAD2_ENST00000508069.2_5'UTR NM_001014446.1 NP_001014446.1 Q56VL3 OCAD2_HUMAN OCIA domain containing 2 59 OCIA. endosome kidney(1)|lung(3)|skin(1)|urinary_tract(1) 6 CTTACAAGAGAAAAAGGCAGA 0.368 7 450 --- --- --- --- CXXC4 80319 broad.mit.edu 37 4 105412465 105412467 + In_Frame_Del DEL GCC GCC - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr4:105412465_105412467delGCC ENST00000394767.2 - 2 943_945 c.493_495delGGC c.(493-495)del p.G165del AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000426831.1_5'UTR|CXXC4_ENST00000466963.1_Intron NM_025212.2 NP_079488.2 Q9H2H0 CXXC4_HUMAN CXXC finger protein 4 0 Interaction with DVL1 (By similarity). negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis DNA binding|PDZ domain binding|zinc ion binding kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(123;3.05e-08) TGGTCCTgctgccgccgccgccg 0.695 12 359 --- --- --- --- PCDH10 57575 broad.mit.edu 37 4 134073569 134073571 + In_Frame_Del DEL CTG CTG - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr4:134073569_134073571delCTG ENST00000264360.4 + 1 3100_3102 c.2274_2276delCTG c.(2272-2277)ctc>ct p.LC758del NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 758 Cys-rich. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) ATTGCTGCCTCTGCTGCTGCTGC 0.581 17 242 --- --- --- --- OTUD4 54726 broad.mit.edu 37 4 146077123 146077125 + In_Frame_Del DEL CAG CAG - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr4:146077123_146077125delCAG ENST00000454497.2 - 8 595_597 c.458_460delCTG c.(457-462)gat>g p.AD153del OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 218 OTU. protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) CCATTCACATCAGCAGCAGCAGC 0.340 10 315 --- --- --- --- ZFR 51663 broad.mit.edu 37 5 32419951 32419953 + In_Frame_Del DEL GGT GGT - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr5:32419951_32419953delGGT ENST00000265069.8 - 3 495_497 c.393_395delACC c.(391-396)ccc>cc p.PP131del NM_016107.3 NP_057191.2 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 131 Ala-rich. multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) AGTAGCTGGGGGTGGTGGTGGTG 0.483 8 731 --- --- --- --- AC026703.1 0 broad.mit.edu 37 5 32789822 32789823 + Frame_Shift_Del DEL GT GT - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr5:32789822_32789823delGT ENST00000326958.1 + 1 878_879 c.315_316delGT c.(313-318)gggtfs p.GC105fs NPR3_ENST00000265074.8_3'UTR CTGATTTTGGGTGTGTGTGTGT 0.421 7 425 --- --- --- --- MCC 4163 broad.mit.edu 37 5 112824048 112824049 + In_Frame_Ins INS - - GCC rs35336557 TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr5:112824048_112824049insGCC ENST00000408903.3 - 1 478_479 c.63_64insGGC c.(61-66)gggcgg>ggGGCgcgg p.21_22GR>GAR NM_001085377.1 NP_001078846.1 P23508 CRCM_HUMAN mutated in colorectal cancers 549 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) ctgctgccgctgccgccgccgc 0.738 7 48 --- --- --- --- KCNN2 3781 broad.mit.edu 37 5 113698631 113698632 + In_Frame_Ins INS - - GCC rs34838882 by1000genomes TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr5:113698631_113698632insGCC ENST00000512097.3 + 2 1177_1178 c.159_160insGCC c.(157-162)gcccgc>gcGCCccgc p.53_54AR>APR KCNN2_ENST00000264773.3_In_Frame_Ins_p.53_54AR>APR Q9H2S1 KCNN2_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 53 Poly-Ala. integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) CTGCAGCCGCTGCCGCCGCCGC 0.703 15 23 --- --- --- --- RP11-1252I4.2 0 broad.mit.edu 37 5 177398373 177398396 + RNA DEL AGGACGAAGAGCTGGAGAGCGCCA AGGACGAAGAGCTGGAGAGCGCCA - rs70994948 TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA ENST00000511650.1 + 0 145 GTCCCCGGGGAGGACGAAGAGCTGGAGAGCGCCAAGGACGACGA 0.683 7 20 --- --- --- --- HLA-V 0 broad.mit.edu 37 6 29760353 29760373 + RNA DEL GCGGGCGCCGTGGATGGAGCA GCGGGCGCCGTGGATGGAGCA - rs74661005 by1000genomes TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA ENST00000457107.1 + 0 223_243 GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG 0.674 10 24 --- --- --- --- STK19 8859 broad.mit.edu 37 6 31939825 31939826 + Frame_Shift_Ins INS - - G TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr6:31939825_31939826insG ENST00000375331.2 + 1 218_219 c.52_53insG c.(52-54)ggcfs p.G18fs DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 18 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 GCGACAGTGGCGGGCAAACCCC 0.634 8 665 --- --- --- --- STK19 8859 broad.mit.edu 37 6 31939829 31939830 + Frame_Shift_Ins INS - - A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr6:31939829_31939830insA ENST00000375331.2 + 1 222_223 c.56_57insA c.(55-57)gaafs p.E19fs DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 19 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 CAGTGGCGGGCAAACCCCTCCC 0.634 11 598 --- --- --- --- TREML2 79865 broad.mit.edu 37 6 41168714 41168716 + In_Frame_Del DEL CAG CAG - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr6:41168714_41168716delCAG ENST00000483722.1 - 1 216_218 c.31_33delCTG c.(31-33)del p.L11del NM_024807.2 NP_079083.2 Q5T2D2 TRML2_HUMAN triggering receptor expressed on myeloid cells-like 2 11 T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1) 18 Ovarian(28;0.0418)|Colorectal(47;0.196) CCTGTGGCCACAGCAGCAGCAGC 0.631 8 148 --- --- --- --- LRRC73 221424 broad.mit.edu 37 6 43475289 43475291 + In_Frame_Del DEL TCC TCC - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr6:43475289_43475291delTCC ENST00000372441.1 - 5 1683_1685 c.783_785delGGA c.(781-786)gaa>ga p.EE261del NM_001012974.1 NP_001012992.1 Q5JTD7 CF154_HUMAN leucine rich repeat containing 73 261 Poly-Glu. TCCTGCCACTTCCTCCTCCTCCT 0.631 7 302 --- --- --- --- C6orf165 154313 broad.mit.edu 37 6 88144700 88144700 + Frame_Shift_Del DEL A A - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr6:88144700delA ENST00000507897.1 + 11 1506 c.1423delA c.(1423-1425)aafs p.K476fs C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs Q8IYR0 CF165_HUMAN chromosome 6 open reading frame 165 476 NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) AGAAAAGGCCAAAAAAAATAC 0.269 9 457 --- --- --- --- MCHR2 84539 broad.mit.edu 37 6 100382358 100382358 + Frame_Shift_Del DEL A A - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr6:100382358delA ENST00000281806.2 - 5 937 c.623delT c.(622-624)tcfs p.F208fs MCHR2_ENST00000445970.1_Frame_Shift_Del_p.F208fs|MCHR2_ENST00000369212.1_Frame_Shift_Del_p.F208fs NM_001040179.1 NP_001035269.1 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 208 integral to membrane|plasma membrane G-protein coupled receptor activity p.F208fs*5(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 39 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) GGGTAGAGGGAAAAAAAAAGT 0.343 13 485 --- --- --- --- EPB41L2 2037 broad.mit.edu 37 6 131191073 131191075 + In_Frame_Del DEL CTG CTG - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr6:131191073_131191075delCTG ENST00000337057.3 - 15 2416_2418 c.2235_2237delCAG c.(2233-2238)agt>ag p.SS745del EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000529208.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000368128.2_In_Frame_Del_p.SS745del|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000527659.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000527411.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000524581.1_In_Frame_Del_p.SS123del|EPB41L2_ENST00000530481.1_In_Frame_Del_p.SS675del NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 745 cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) CTCACTCTCACTGCTGCTGCTGC 0.562 8 323 --- --- --- --- SHPRH 257218 broad.mit.edu 37 6 146264834 146264836 + In_Frame_Del DEL ATC ATC - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr6:146264834_146264836delATC ENST00000367503.3 - 9 2079_2081 c.1681_1683delGAT c.(1681-1683)del p.D561del SHPRH_ENST00000438092.2_In_Frame_Del_p.D561del|SHPRH_ENST00000367505.2_In_Frame_Del_p.D561del|SHPRH_ENST00000275233.7_In_Frame_Del_p.D561del NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 561 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) AATAGTAAGGATCATCATCATCA 0.360 7 440 --- --- --- --- PURB 5814 broad.mit.edu 37 7 44924131 44924131 + Frame_Shift_Del DEL A A - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr7:44924131delA ENST00000395699.2 - 1 829 c.817delT c.(817-819)gcfs p.C273fs NM_033224.3 NP_150093.1 Q96QR8 PURB_HUMAN purine-rich element binding protein B 273 regulation of myeloid cell differentiation DNA replication factor A complex mRNA binding|single-stranded DNA binding|transcription factor binding large_intestine(2)|lung(3)|prostate(1)|skin(1) 7 GCATACCGGCAAAAGGCGCCT 0.582 8 682 --- --- --- --- WDR60 55112 broad.mit.edu 37 7 158704353 158704353 + Frame_Shift_Del DEL A A - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr7:158704353delA ENST00000407559.3 + 12 1731 c.1573delA c.(1573-1575)aafs p.K526fs NM_018051.4 NP_060521.4 Q8WVS4 WDR60_HUMAN WD repeat domain 60 526 NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2) 35 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) AAACTTTGGGAAAAAAAATAC 0.328 7 271 --- --- --- --- UBR5 51366 broad.mit.edu 37 8 103289349 103289349 + Frame_Shift_Del DEL T T - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr8:103289349delT ENST00000520539.1 - 45 6966 c.6360delA c.(6358-6360)aafs p.K2120fs UBR5_ENST00000220959.4_Frame_Shift_Del_p.K2120fs|UBR5_ENST00000521922.1_Frame_Shift_Del_p.K2114fs NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 2120 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding p.E2121fs*28(2) NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) CTTCCCCTTCTTTTTTTTGCC 0.378 8 602 --- --- --- --- SFMBT2 57713 broad.mit.edu 37 10 7212995 7212997 + In_Frame_Del DEL CTC CTC - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr10:7212995_7212997delCTC ENST00000361972.4 - 20 2527_2529 c.2437_2439delGAG c.(2437-2439)del p.E813del SFMBT2_ENST00000397167.1_In_Frame_Del_p.E813del NM_001018039.1 NP_001018049.1 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 813 regulation of transcription, DNA-dependent nucleus NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 GAACCAGTCTCTCCTCCTCCTCC 0.596 7 655 --- --- --- --- RTKN2 219790 broad.mit.edu 37 10 63958149 63958149 + Frame_Shift_Del DEL T T - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr10:63958149delT ENST00000373789.3 - 12 1444 c.1348delA c.(1348-1350)ttfs p.I450fs RTKN2_ENST00000315289.2_Frame_Shift_Del_p.I252fs|RTKN2_ENST00000395265.1_Frame_Shift_Del_p.I471fs NM_145307.2 NP_660350.2 Q8IZC4 RTKN2_HUMAN rhotekin 2 450 signal transduction intracellular p.I450fs*67(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Prostate(12;0.0297)|all_hematologic(501;0.215) GTCTCTTCAATTTTTTTTTGT 0.333 9 297 --- --- --- --- NLRP6 171389 broad.mit.edu 37 11 281553 281555 + In_Frame_Del DEL GAG GAG - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr11:281553_281555delGAG ENST00000534750.1 + 4 2024_2026 c.1819_1821delGAG c.(1819-1821)del p.E611del NLRP6_ENST00000312165.5_In_Frame_Del_p.E611del NM_001276700.1 NP_001263629.1 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 611 Poly-Glu. cytoplasm ATP binding breast(1)|skin(1)|upper_aerodigestive_tract(2) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) CGAAGAGCCAGAGGAGGAGGAGG 0.670 11 547 --- --- --- --- RTN3 10313 broad.mit.edu 37 11 63525788 63525788 + Frame_Shift_Del DEL T T - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr11:63525788delT ENST00000354497.4 + 4 634 c.570delT c.(568-570)gcfs p.A190fs RTN3_ENST00000339997.4_3'UTR|RTN3_ENST00000341307.2_3'UTR|RTN3_ENST00000540798.1_3'UTR|RTN3_ENST00000537981.1_3'UTR|RTN3_ENST00000377819.5_3'UTR|RTN3_ENST00000356000.3_3'UTR NM_001265591.1 NP_001252520.1 O95197 RTN3_HUMAN reticulon 3 0 apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 20 CATTCCAAGCTTTTTTTTTAA 0.348 8 257 --- --- --- --- UVRAG 7405 broad.mit.edu 37 11 75694430 75694431 + Splice_Site INS - - A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr11:75694430_75694431insA ENST00000356136.3 + 8 940_941 c.e8-1 UVRAG_ENST00000528420.1_Splice_Site|UVRAG_ENST00000533454.1_Splice_Site|UVRAG_ENST00000531818.1_Splice_Site|UVRAG_ENST00000532130.1_Splice_Site NM_003369.3 NP_003360.2 Q9P2Y5 UVRAG_HUMAN UV radiation resistance associated DNA repair|positive regulation of autophagy early endosome|late endosome|lysosome protein binding central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2) 32 TATTTATTTAGAAAAAAAAAAG 0.302 11 204 --- --- --- --- CADM1 23705 broad.mit.edu 37 11 115375030 115375035 + In_Frame_Del DEL AGCCGG AGCCGG - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr11:115375030_115375035delAGCCGG ENST00000542447.2 - 1 206_211 c.78_83delCCGGCT c.(76-84)ctt>ct p.LRL26del CADM1_ENST00000452722.2_In_Frame_Del_p.LRL26del|CADM1_ENST00000331581.6_In_Frame_Del_p.LRL26del|CADM1_ENST00000537058.1_In_Frame_Del_p.LRL26del|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000536727.1_In_Frame_Del_p.LRL26del NM_001098517.1 NP_001091987.1 Q9BY67 CADM1_HUMAN cell adhesion molecule 1 26 adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) CAACAGCAGAAGCCGGAGCCGGAGCC 0.694 7 15 --- --- --- --- ZMYM5 9205 broad.mit.edu 37 13 20426143 20426145 + In_Frame_Del DEL CAT CAT - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr13:20426143_20426145delCAT ENST00000337963.4 - 3 440_442 c.176_178delATG c.(175-180)gtt>g p.DV59del ZMYM5_ENST00000382907.4_In_Frame_Del_p.DV59del|ZMYM5_ENST00000382905.4_In_Frame_Del_p.DV59del NM_001142684.1 NP_001136156.1 Q9UJ78 ZMYM5_HUMAN zinc finger, MYM-type 5 59 Poly-Asp. nucleus zinc ion binding kidney(1)|large_intestine(5)|lung(9) 15 all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431) ATAAACACAAcatcatcatcatc 0.379 8 402 --- --- --- --- APEX1 328 broad.mit.edu 37 14 20923820 20923820 + Frame_Shift_Del DEL A A - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr14:20923820delA ENST00000216714.3 + 2 284 c.16delA c.(16-18)aafs p.K7fs APEX1_ENST00000557365.1_Intron|APEX1_ENST00000555414.1_Frame_Shift_Del_p.K7fs|APEX1_ENST00000398030.4_Frame_Shift_Del_p.K7fs|APEX1_ENST00000557054.1_Frame_Shift_Del_p.K7fs NM_001244249.1|NM_001641.3 NP_001231178.1|NP_001632.2 P27695 APEX1_HUMAN APEX nuclease (multifunctional DNA repair enzyme) 1 7 Necessary for interaction with YBX1, binding to RNA, NPM1-dependent association with rRNA, endoribonuclease activity on abasic RNA and localization in the nucleoli. base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome 3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity breast(2)|endometrium(1)|large_intestine(4)|ovary(2) 9 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;1.09e-07)|all cancers(55;1.19e-06) GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193) Lucanthone(DB04967) GAAGCGTGGGAAAAAGGGAGC 0.557 Other BER factors 7 637 --- --- --- --- IRF9 10379 broad.mit.edu 37 14 24633132 24633134 + In_Frame_Del DEL AGC AGC - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr14:24633132_24633134delAGC ENST00000396864.3 + 5 828_830 c.541_543delAGC c.(541-543)del p.S187del RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_In_Frame_Del_p.S85del NM_006084.4 NP_006075.3 Q00978 IRF9_HUMAN interferon regulatory factor 9 187 Poly-Ser. interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|nucleoplasm DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 16 GBM - Glioblastoma multiforme(265;0.00853) AGACATTGGGagcagcagcagca 0.567 8 256 --- --- --- --- MAP3K9 4293 broad.mit.edu 37 14 71275774 71275776 + In_Frame_Del DEL CCT CCT - rs3832971 TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr14:71275774_71275776delCCT ENST00000554752.2 - 1 112_114 c.113_115delAGG c.(112-117)gcg>g p.EA38del MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del|MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 38 Ala-rich.|Poly-Glu. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity p.E38delE(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GCCGCCGCCGcctcctcctcctc 0.773 5 11 --- --- --- --- FAN1 22909 broad.mit.edu 37 15 31196894 31196894 + Frame_Shift_Del DEL A A - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr15:31196894delA ENST00000362065.4 + 2 319 c.28delA c.(28-30)aafs p.K11fs FAN1_ENST00000565466.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561594.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561607.1_Frame_Shift_Del_p.K11fs NM_014967.4 NP_055782.3 Q9Y2M0 FAN1_HUMAN FANCD2/FANCI-associated nuclease 1 11 double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1) 29 ACCTCCTGACAAAAAAAGGCC 0.353 Direct reversal of damage 7 618 --- --- --- --- TCF12 6938 broad.mit.edu 37 15 57489984 57489984 + Frame_Shift_Del DEL A A - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr15:57489984delA ENST00000267811.5 + 8 844 c.540delA c.(538-540)gcfs p.A180fs TCF12_ENST00000333725.5_Frame_Shift_Del_p.A180fs|TCF12_ENST00000557843.1_Frame_Shift_Del_p.A180fs|TCF12_ENST00000452095.2_Frame_Shift_Del_p.A176fs|TCF12_ENST00000438423.2_Frame_Shift_Del_p.A180fs NM_003205.3|NM_207038.1 NP_003196.1|NP_996921.1 Q99081 HTF4_HUMAN transcription factor 12 180 immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity TCF12/NR4A3(2) breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 36 Colorectal(260;0.0907) all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239) CCTTGCAAGCAAAAAAAGTCA 0.343 T TEC extraskeletal myxoid chondrosarcoma 8 468 --- --- --- --- MYO9A 4649 broad.mit.edu 37 15 72190580 72190580 + Frame_Shift_Del DEL A A - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr15:72190580delA ENST00000356056.5 - 25 4736 c.4264delT c.(4264-4266)atfs p.Y1422fs MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Frame_Shift_Del_p.Y1422fs|MYO9A_ENST00000424560.1_Frame_Shift_Del_p.Y1422fs|MYO9A_ENST00000566885.1_Frame_Shift_Del_p.Y1042fs|MYO9A_ENST00000444904.1_Frame_Shift_Del_p.Y1403fs NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 1422 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 TGGGGGATATAAAAAAAAGTA 0.398 7 347 --- --- --- --- UBE2Q2P3 0 broad.mit.edu 37 15 83040944 83040944 + RNA DEL T T - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr15:83040944delT ENST00000558477.1 + 0 233 NR_004847.2 AACAAAAATCTTTTTTTTTTT 0.313 7 26 --- --- --- --- DNM1P46 0 broad.mit.edu 37 15 100340123 100340125 + RNA DEL AGA AGA - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr15:100340123_100340125delAGA ENST00000341853.1 - 0 801_803 NR_003260.1 AGCAGCTCCGAGAAGATGAACTC 0.611 14 117 --- --- --- --- Z84812.4 0 broad.mit.edu 37 16 81973 81974 + RNA INS - - GTCC TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr16:81973_81974insGTCC ENST00000568710.1 - 0 349 ATCAGCAGGAGGCCCACCTCGT 0.614 8 153 --- --- --- --- KIAA0430 9665 broad.mit.edu 37 16 15729982 15729984 + In_Frame_Del DEL CCA CCA - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr16:15729982_15729984delCCA ENST00000396368.3 - 3 566_568 c.360_362delTGG c.(358-363)ggc>gg p.GG120del KIAA0430_ENST00000551742.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000548025.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000602337.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000540441.2_In_Frame_Del_p.GG120del|KIAA0430_ENST00000344181.3_5'UTR NM_001184998.1|NM_001184999.1|NM_014647.3 NP_001171927.1|NP_001171928.1|NP_055462.2 Q9Y4F3 LKAP_HUMAN KIAA0430 119 Poly-Gly. peroxisome nucleotide binding|RNA binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 TCCGCTACCGCCACCACCACCAC 0.532 7 520 --- --- --- --- ARHGAP17 55114 broad.mit.edu 37 16 24942180 24942180 + Frame_Shift_Del DEL G G - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr16:24942180delG ENST00000289968.6 - 19 2509 c.2440delC c.(2440-2442)aafs p.Q814fs ARHGAP17_ENST00000303665.5_Frame_Shift_Del_p.Q736fs|ARHGAP17_ENST00000441763.2_3'UTR NM_001006634.1 NP_001006635.1 Q68EM7 RHG17_HUMAN Rho GTPase activating protein 17 814 Pro-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2) 30 GBM - Glioblastoma multiforme(48;0.0407) CCAGGAGGTTGGGGGGGTGGG 0.577 8 799 --- --- --- --- ATP2A1 487 broad.mit.edu 37 16 28913639 28913640 + Frame_Shift_Ins INS - - C TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr16:28913639_28913640insC ENST00000395503.4 + 17 2640_2641 c.2456_2457insC c.(2455-2457)cccfs p.P819fs ATP2A1_ENST00000536376.1_Frame_Shift_Ins_p.P694fs|ATP2A1_ENST00000357084.3_Frame_Shift_Ins_p.P819fs NM_004320.4 NP_004311.1 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 819 apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 38 ATCATGGACCGCCCCCCCCGGA 0.658 10 617 --- --- --- --- RP11-67H24.2 0 broad.mit.edu 37 16 32823636 32823637 + RNA INS - - C rs112857933 TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr16:32823636_32823637insC ENST00000569859.1 + 0 373 TTGCTGGAGTGGATGTGACAGG 0.495 14 83 --- --- --- --- CKLF 51192 broad.mit.edu 37 16 66599895 66599895 + Frame_Shift_Del DEL A A - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr16:66599895delA ENST00000264001.4 + 4 589 c.440delA c.(439-441)gafs p.E147fs CKLF-CMTM1_ENST00000527729.1_Intron|CKLF_ENST00000351137.4_Frame_Shift_Del_p.E94fs|CKLF_ENST00000532838.1_Intron|CKLF_ENST00000345436.4_Frame_Shift_Del_p.E115fs|CKLF_ENST00000417030.2_Intron|CKLF_ENST00000362093.4_Frame_Shift_Del_p.E62fs|CKLF_ENST00000563092.1_3'UTR NM_016951.3 NP_058647.1 chemokine-like factor endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|upper_aerodigestive_tract(1) 5 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217) CCTGTGCATGAAAAAAAAGAA 0.363 7 396 --- --- --- --- BPTF 2186 broad.mit.edu 37 17 65905759 65905759 + Frame_Shift_Del DEL A A - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr17:65905759delA ENST00000321892.4 + 12 3313 c.3252delA c.(3250-3252)ccfs p.P1084fs BPTF_ENST00000424123.3_Frame_Shift_Del_p.P945fs|BPTF_ENST00000306378.6_Frame_Shift_Del_p.P958fs|BPTF_ENST00000335221.5_Frame_Shift_Del_p.P1084fs Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 1084 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) CACGAAGTCCAAAAAAAATAA 0.308 7 238 --- --- --- --- CANT1 124583 broad.mit.edu 37 17 76993313 76993313 + Frame_Shift_Del DEL T T - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr17:76993313delT ENST00000302345.2 - 2 886 c.392delA c.(391-393)agfs p.K131fs CANT1_ENST00000392446.5_Frame_Shift_Del_p.K131fs|CANT1_ENST00000591773.1_Frame_Shift_Del_p.K131fs NM_001159773.1|NM_138793.3 NP_001153245.1|NP_620148.1 Q8WVQ1 CANT1_HUMAN calcium activated nucleotidase 1 131 positive regulation of I-kappaB kinase/NF-kappaB cascade endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity CANT1/ETV4(3) cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139) CAGGTAGCCCTTTTTCAGGTA 0.577 T ETV4 prostate 7 1458 --- --- --- --- IL12RB1 0 broad.mit.edu 37 19 18194264 18194265 + Frame_Shift_Ins INS - - G rs113524129 byFrequency TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr19:18194264_18194265insG ENST00000600835.1 - 3 404_405 c.101_102insC c.(100-102)cccfs p.P34fs IL12RB1_ENST00000593993.1_Frame_Shift_Ins_p.P34fs|IL12RB1_ENST00000430026.2_Frame_Shift_Ins_p.P34fs|IL12RB1_ENST00000322153.6_Frame_Shift_Ins_p.P34fs P42701 I12R1_HUMAN interleukin 12 receptor, beta 1 34 cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2) 8 CCGGATATGGCGGGTCCTGAAA 0.564 7 579 --- --- --- --- ZNF428 126299 broad.mit.edu 37 19 44111875 44111877 + In_Frame_Del DEL TCC TCC - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr19:44111875_44111877delTCC ENST00000300811.3 - 3 905_907 c.459_461delGGA c.(457-462)gaa>ga p.EE157del SRRM5_ENST00000607544.1_Intron|SRRM5_ENST00000526798.1_Intron NM_182498.3 NP_872304.2 Q96B54 ZN428_HUMAN zinc finger protein 428 157 Glu-rich. intracellular zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1) 5 Prostate(69;0.0153) ctcctcctcttcctcctcctcct 0.660 9 242 --- --- --- --- BCL3 602 broad.mit.edu 37 19 45262726 45262726 + Frame_Shift_Del DEL C C - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr19:45262726delC ENST00000164227.5 + 9 1463 c.1219delC c.(1219-1221)ccfs p.P408fs NM_005178.4 NP_005169.2 P20749 BCL3_HUMAN B-cell CLL/lymphoma 3 408 Pro/Ser-rich. DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm protein binding, bridging|transcription factor binding kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Lung NSC(12;0.000698)|all_lung(12;0.002) Ovarian(192;0.0728) CTCCCAGTCTCCCCCCAGGGA 0.627 T IGH@ CLL 7 2459 --- --- --- --- PVRL2 5819 broad.mit.edu 37 19 45381749 45381751 + In_Frame_Del DEL GAG GAG - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr19:45381749_45381751delGAG ENST00000252485.4 + 6 1663_1665 c.1312_1314delGAG c.(1312-1314)del p.E445del PVRL2_ENST00000252483.5_Intron NM_002856.2 NP_002847.1 Q92692 PVRL2_HUMAN poliovirus receptor-related 2 (herpesvirus entry mediator B) 504 adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor cell surface|integral to membrane|zonula adherens cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(6)|lung(5) 13 Lung NSC(12;0.00195)|all_lung(12;0.00522) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0143) TGGCAaggatgaggaggaggagg 0.591 12 183 --- --- --- --- IFNGR2 3460 broad.mit.edu 37 21 34799292 34799292 + Frame_Shift_Del DEL T T - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr21:34799292delT ENST00000290219.6 + 4 1162 c.514delT c.(514-516)ttfs p.F173fs IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs|IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs NM_005534.3 NP_005525.2 P38484 INGR2_HUMAN interferon gamma receptor 2 (interferon gamma transducer 1) 173 Fibronectin type-III 2. regulation of interferon-gamma-mediated signaling pathway|response to virus endoplasmic reticulum|integral to plasma membrane interferon-gamma receptor activity NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1) 13 Interferon gamma-1b(DB00033) CTCCACGGCCTTTTTTTGTTA 0.458 7 1267 --- --- --- --- CNKSR2 22866 broad.mit.edu 37 X 21627678 21627680 + In_Frame_Del DEL GAG GAG - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chrX:21627678_21627680delGAG ENST00000425654.2 + 19 3025_3027 c.2545_2547delGAG c.(2545-2547)del p.E856del CNKSR2_ENST00000379510.3_In_Frame_Del_p.E886del|CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del|CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 886 regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 ggtggaggaagaggaggaggagg 0.517 7 83 --- --- --- ---