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 MYO5B 4645 broad.mit.edu 37 18 47421475 47421475 + Missense_Mutation SNP G G A TCGA-EJ-A7NG-01A-31D-A33T-08 TCGA-EJ-A7NG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ccb9a1a-8f45-44c1-9650-b90ebf475a2c f7be9369-def7-4cc9-8caa-9d546dc7c0df g.chr18:47421475G>A ENST00000285039.7 - 22 3180 c.2881C>T c.(2881-2883)Cgg>Tgg p.R961W MYO5B_ENST00000324581.6_Missense_Mutation_p.R102W NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 961 protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) TTCTTCAGCCGCTCTACCTCC 0.557000 4 56 0 0 1 0 0 ULK4 54986 broad.mit.edu 37 3 41746766 41746766 + Missense_Mutation SNP G G C TCGA-EJ-A7NG-01A-31D-A33T-08 TCGA-EJ-A7NG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ccb9a1a-8f45-44c1-9650-b90ebf475a2c f7be9369-def7-4cc9-8caa-9d546dc7c0df g.chr3:41746766G>C ENST00000301831.4 - 26 3128 c.2666C>G c.(2665-2667)aCg>aGg p.T889R NM_017886.2 NP_060356.2 Q96C45 ULK4_HUMAN unc-51 like kinase 4 889 ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(284;0.214) ATCTATGTTCGTTTCTCCTGA 0.294000 9 65 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-EJ-A7NG-01A-31D-A33T-08 TCGA-EJ-A7NG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ccb9a1a-8f45-44c1-9650-b90ebf475a2c f7be9369-def7-4cc9-8caa-9d546dc7c0df g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 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.Q2724Q(16)|p.Q2725Q(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) agcagcagcagcaacaacagc 0.562000 4 52 0 0 1 0 0 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-EJ-A7NG-01A-31D-A33T-08 TCGA-EJ-A7NG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ccb9a1a-8f45-44c1-9650-b90ebf475a2c f7be9369-def7-4cc9-8caa-9d546dc7c0df g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 4 105 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345756 33345756 + Silent SNP T T C TCGA-EJ-A7NG-01A-31D-A33T-08 TCGA-EJ-A7NG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ccb9a1a-8f45-44c1-9650-b90ebf475a2c f7be9369-def7-4cc9-8caa-9d546dc7c0df g.chr20:33345756T>C ENST00000374796.2 - 8 3365 c.795A>G c.(793-795)caA>caG p.Q265Q NCOA6_ENST00000359003.2_Silent_p.Q265Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 265 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.Q265Q(1) 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 gttgttgttgttgctgctgct 0.537000 3 45 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-EJ-A7NG-01A-31D-A33T-08 TCGA-EJ-A7NG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ccb9a1a-8f45-44c1-9650-b90ebf475a2c f7be9369-def7-4cc9-8caa-9d546dc7c0df g.chr16:90162513T>C ENST00000567960.1 + 0 1249 TUBB8P7_ENST00000564451.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 4 99 0 0 1 0 0 CHUK 1147 broad.mit.edu 37 10 101960457 101960457 + Silent SNP T T C TCGA-EJ-A7NG-01A-31D-A33T-08 TCGA-EJ-A7NG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ccb9a1a-8f45-44c1-9650-b90ebf475a2c f7be9369-def7-4cc9-8caa-9d546dc7c0df g.chr10:101960457T>C ENST00000370397.7 - 15 1736 c.1650A>G c.(1648-1650)ggA>ggG p.G550G NM_001278.3 NP_001269.3 O15111 IKKA_HUMAN conserved helix-loop-helix ubiquitous kinase 550 I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus ATP binding|identical protein binding|IkappaB kinase activity breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1) 27 Colorectal(252;0.117) Epithelial(162;2.05e-10)|all cancers(201;1.91e-08) CCTGACGTCTTCCATAGGGGC 0.403000 3 61 0 0 1 0 0 WHSC1 7468 broad.mit.edu 37 4 1902918 1902918 + Silent SNP G G A TCGA-EJ-A7NG-01A-31D-A33T-08 TCGA-EJ-A7NG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ccb9a1a-8f45-44c1-9650-b90ebf475a2c f7be9369-def7-4cc9-8caa-9d546dc7c0df g.chr4:1902918G>A ENST00000503128.1 + 2 744 c.537G>A c.(535-537)ctG>ctA p.L179L WHSC1_ENST00000382895.3_Silent_p.L179L|WHSC1_ENST00000382892.2_Silent_p.L179L|WHSC1_ENST00000436793.1_Silent_p.L179L|WHSC1_ENST00000398261.1_Silent_p.L179L|WHSC1_ENST00000508803.1_Silent_p.L179L|WHSC1_ENST00000514045.1_Silent_p.L179L|WHSC1_ENST00000420906.2_Silent_p.L179L|WHSC1_ENST00000382891.5_Silent_p.L179L O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 179 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 48 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) ACTCCTTGCTGGAGCAGGGCC 0.448000 T IGH@ MM 4 65 0 0 1 0 0 FOXJ3 22887 broad.mit.edu 37 1 42657164 42657164 + Silent SNP C C T TCGA-EJ-A7NG-01A-31D-A33T-08 TCGA-EJ-A7NG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ccb9a1a-8f45-44c1-9650-b90ebf475a2c f7be9369-def7-4cc9-8caa-9d546dc7c0df g.chr1:42657164C>T ENST00000372572.1 - 11 1472 c.1161G>A c.(1159-1161)ccG>ccA p.P387P FOXJ3_ENST00000372573.1_Silent_p.P387P|FOXJ3_ENST00000361776.1_Silent_p.P353P|FOXJ3_ENST00000361346.1_Silent_p.P387P|FOXJ3_ENST00000545068.1_Silent_p.P387P NM_001198851.1 NP_001185780.1 Q9UPW0 FOXJ3_HUMAN forkhead box J3 387 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GTAAACCATGCGGTCGATGGG 0.612000 4 140 0 0 1 0 0 ADD2 119 broad.mit.edu 37 2 70890788 70890788 + Silent SNP G G A TCGA-EJ-A7NG-01A-31D-A33T-08 TCGA-EJ-A7NG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ccb9a1a-8f45-44c1-9650-b90ebf475a2c f7be9369-def7-4cc9-8caa-9d546dc7c0df g.chr2:70890788G>A ENST00000264436.3 - 16 2394 c.1950C>T c.(1948-1950)aaC>aaT p.N650N ADD2_ENST00000407644.2_Silent_p.N650N|ADD2_ENST00000355733.3_3'UTR NM_001617.3 NP_001608.1 P35612 ADDB_HUMAN adducin 2 (beta) 650 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 CCTCCCTCCCGTTGACCACCA 0.517000 7 91 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-EJ-A7NG-01A-31D-A33T-08 TCGA-EJ-A7NG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ccb9a1a-8f45-44c1-9650-b90ebf475a2c f7be9369-def7-4cc9-8caa-9d546dc7c0df g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 4 87 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7734509 7734509 + Silent SNP C C T TCGA-EJ-A7NG-01A-31D-A33T-08 TCGA-EJ-A7NG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ccb9a1a-8f45-44c1-9650-b90ebf475a2c f7be9369-def7-4cc9-8caa-9d546dc7c0df g.chr17:7734509C>T ENST00000572933.1 + 80 13796 c.12336C>T c.(12334-12336)ggC>ggT p.G4112G DNAH2_ENST00000389173.2_Silent_p.G4112G Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 4112 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) AGGCCTTTGGCCAGCACCCCA 0.527000 4 218 0 0 1 0 0 FRG1 2483 broad.mit.edu 37 4 190878646 190878646 + Nonsense_Mutation SNP G G T TCGA-EJ-A7NG-01A-31D-A33T-08 TCGA-EJ-A7NG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ccb9a1a-8f45-44c1-9650-b90ebf475a2c f7be9369-def7-4cc9-8caa-9d546dc7c0df 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 3 41 0.00909568 0.00909568 1 1 0 RP5-896L10.1 0 broad.mit.edu 37 1 99474094 99474094 + RNA DEL A A - rs57656522 TCGA-EJ-A7NG-01A-31D-A33T-08 TCGA-EJ-A7NG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ccb9a1a-8f45-44c1-9650-b90ebf475a2c f7be9369-def7-4cc9-8caa-9d546dc7c0df g.chr1:99474094delA ENST00000425113.1 + 0 370 NR_033940.1 AACAGCAACTAAAAAAAAAAA 0.353 3 6 --- --- --- --- GBX2 2637 broad.mit.edu 37 2 237076427 237076429 + In_Frame_Del DEL GGC GGC - TCGA-EJ-A7NG-01A-31D-A33T-08 TCGA-EJ-A7NG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ccb9a1a-8f45-44c1-9650-b90ebf475a2c f7be9369-def7-4cc9-8caa-9d546dc7c0df g.chr2:237076427_237076429delGGC ENST00000306318.4 - 1 583_585 c.186_188delGCC c.(184-189)ccc>cc p.PP62del GBX2_ENST00000551105.1_In_Frame_Del_p.PP62del|AC079135.1_ENST00000483218.1_RNA|AC079135.1_ENST00000415226.1_RNA NM_001485.2 NP_001476.2 P52951 GBX2_HUMAN gastrulation brain homeobox 2 62 Poly-Pro. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179) Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471) GGGCAGCGCGggcggcggcggcg 0.754 3 5 --- --- --- --- SOBP 55084 broad.mit.edu 37 6 107956280 107956282 + In_Frame_Del DEL GCC GCC - TCGA-EJ-A7NG-01A-31D-A33T-08 TCGA-EJ-A7NG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ccb9a1a-8f45-44c1-9650-b90ebf475a2c f7be9369-def7-4cc9-8caa-9d546dc7c0df g.chr6:107956280_107956282delGCC ENST00000317357.5 + 6 2891_2893 c.2232_2234delGCC c.(2230-2235)cag>ca p.QP744del SOBP_ENST00000494935.1_3'UTR NM_018013.3 NP_060483.3 A7XYQ1 SOBP_HUMAN sine oculis binding protein homolog (Drosophila) 744 Pro-rich. metal ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156) BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154) CTCCCGAGCAgccgccgccgccg 0.749 2 4 --- --- --- --- BHLHE22 27319 broad.mit.edu 37 8 65494017 65494018 + In_Frame_Ins INS - - GCA TCGA-EJ-A7NG-01A-31D-A33T-08 TCGA-EJ-A7NG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ccb9a1a-8f45-44c1-9650-b90ebf475a2c f7be9369-def7-4cc9-8caa-9d546dc7c0df g.chr8:65494017_65494018insGCA ENST00000321870.1 + 1 1204_1205 c.670_671insGCA c.(670-672)cgg>GCAcgg p.223_224insA RP11-21C4.1_ENST00000517909.1_RNA NM_152414.4 NP_689627.1 Q8NFJ8 BHE22_HUMAN basic helix-loop-helix family, member e22 223 Gly-rich.|Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 5 tagcggcagcggcggcagcagc 0.723 4 6 --- --- --- --- HMX3 340784 broad.mit.edu 37 10 124895626 124895627 + Frame_Shift_Ins INS - - C TCGA-EJ-A7NG-01A-31D-A33T-08 TCGA-EJ-A7NG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ccb9a1a-8f45-44c1-9650-b90ebf475a2c f7be9369-def7-4cc9-8caa-9d546dc7c0df g.chr10:124895626_124895627insC ENST00000357878.5 + 1 149_150 c.60_61insC c.(58-63)ccccccfs p.PP20fs NM_001105574.1 NP_001099044.1 A6NHT5 HMX3_HUMAN H6 family homeobox 3 20 Pro-rich. cell differentiation nucleus sequence-specific DNA binding transcription factor activity lung(4) 4 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141) AACCGCCGCCGCCCCCCCCACC 0.748 2 4 --- --- --- --- GOLGA8DP 0 broad.mit.edu 37 15 22709885 22709885 + RNA DEL G G - TCGA-EJ-A7NG-01A-31D-A33T-08 TCGA-EJ-A7NG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ccb9a1a-8f45-44c1-9650-b90ebf475a2c f7be9369-def7-4cc9-8caa-9d546dc7c0df g.chr15:22709885delG ENST00000314246.8 - 0 1069 TATCTAATGTGGGGGGGGCTG 0.537 8 18 --- --- --- --- TERF2IP 54386 broad.mit.edu 37 16 75690204 75690206 + In_Frame_Del DEL GAA GAA - rs140846731 TCGA-EJ-A7NG-01A-31D-A33T-08 TCGA-EJ-A7NG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ccb9a1a-8f45-44c1-9650-b90ebf475a2c f7be9369-def7-4cc9-8caa-9d546dc7c0df g.chr16:75690204_75690206delGAA ENST00000300086.4 + 3 992_994 c.895_897delGAA c.(895-897)del p.E304del NM_018975.3 NP_061848.2 Q9NYB0 TE2IP_HUMAN telomeric repeat binding factor 2, interacting protein 304 Asp/Glu-rich (acidic). negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent cytoplasm|nuclear telomere cap complex|nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1) 5 TGATgaggaggaagaagaagaag 0.424 7 68 --- --- --- --- NUDT11 0 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-EJ-A7NG-01A-31D-A33T-08 TCGA-EJ-A7NG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ccb9a1a-8f45-44c1-9650-b90ebf475a2c f7be9369-def7-4cc9-8caa-9d546dc7c0df g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 3 6 --- --- --- ---