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 CROCCP2 84809 broad.mit.edu 37 1 16945409 16945409 + RNA SNP T T A rs13566 TCGA-EE-A2GK-06A-11D-A196-08 TCGA-EE-A2GK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d39d79f-ebea-463b-af46-7a59ef21ed1f 76a32d10-71f6-444c-93de-e96ae7e4ffdb g.chr1:16945409T>A ENST00000412962.1 - 0 2110 GCGGGATAGCTCGGTGGAGAG 0.612000 7 56 0 0 8.12818e-05 0 0 FRG1B 284802 broad.mit.edu 37 20 29628225 29628225 + Splice_Site SNP A A G TCGA-EE-A2GK-06A-11D-A196-08 TCGA-EE-A2GK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d39d79f-ebea-463b-af46-7a59ef21ed1f 76a32d10-71f6-444c-93de-e96ae7e4ffdb g.chr20:29628225A>G ENST00000278882.3 + 6 608 c.e6-1 FRG1B_ENST00000439954.2_Splice_Site|FRG1B_ENST00000358464.4_Splice_Site endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TGTTTCACTTAGGGGAAAATG 0.358000 4 45 0 0 2.56e-06 0 0 SLC6A10P 386757 broad.mit.edu 37 16 32890622 32890622 + RNA SNP T T G TCGA-EE-A2GK-06A-11D-A196-08 TCGA-EE-A2GK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d39d79f-ebea-463b-af46-7a59ef21ed1f 76a32d10-71f6-444c-93de-e96ae7e4ffdb g.chr16:32890622T>G ENST00000330048.5 - 0 3176 NR_003083.2 CGTTGGTGTTTTTGTAGACCA 0.617000 3 20 0 0 6.4e-05 0 0 EP400 57634 broad.mit.edu 37 12 132547093 132547093 + Silent SNP A A G rs60608267 by1000genomes TCGA-EE-A2GK-06A-11D-A196-08 TCGA-EE-A2GK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d39d79f-ebea-463b-af46-7a59ef21ed1f 76a32d10-71f6-444c-93de-e96ae7e4ffdb g.chr12:132547093A>G ENST00000333577.4 + 48 8398 c.8289A>G c.(8287-8289)caA>caG p.Q2763Q EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000389562.2_Silent_p.Q2726Q Q96L91 EP400_HUMAN E1A binding protein p400 2763 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.Q2726Q(9) 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) agcagcaacaacagcagcagc 0.567000 6 77 0 0 3.59834e-05 0 0 WHAMMP3 339005 broad.mit.edu 37 15 23205094 23205094 + RNA SNP G G A TCGA-EE-A2GK-06A-11D-A196-08 TCGA-EE-A2GK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d39d79f-ebea-463b-af46-7a59ef21ed1f 76a32d10-71f6-444c-93de-e96ae7e4ffdb g.chr15:23205094G>A ENST00000400153.2 - 0 760 NR_003521.1 AGTACTGGAAGAACGTGGTTG 0.373000 4 23 0 0 2.56e-06 0 0 KIAA0907 22889 broad.mit.edu 37 1 155886422 155886423 + Frame_Shift_Del DEL CT CT - TCGA-EE-A2GK-06A-11D-A196-08 TCGA-EE-A2GK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d39d79f-ebea-463b-af46-7a59ef21ed1f 76a32d10-71f6-444c-93de-e96ae7e4ffdb g.chr1:155886422_155886423delCT ENST00000368320.3 - 12 1571_1572 c.1546_1547delAG c.(1546-1548)gfs p.R516fs KIAA0907_ENST00000368321.3_Frame_Shift_Del_p.R516fs Q7Z7F0 K0907_HUMAN KIAA0907 516 p.R516fs*21(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) TTACCTGTCCCTCTCTCTCTCT 0.396 7 361 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179588388 179588388 + Frame_Shift_Del DEL C C - TCGA-EE-A2GK-06A-11D-A196-08 TCGA-EE-A2GK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d39d79f-ebea-463b-af46-7a59ef21ed1f 76a32d10-71f6-444c-93de-e96ae7e4ffdb g.chr2:179588388delC ENST00000589042.1 - 74 21663 c.21439delG c.(21439-21441)aafs p.E7147fs TTN_ENST00000359218.5_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Frame_Shift_Del_p.E5903fs|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.E6830fs NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6830 Ig-like 53. 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) GGTAGTACTTCCAAAGGTTCA 0.403 2 4 --- --- --- --- TRERF1 55809 broad.mit.edu 37 6 42196333 42196333 + Frame_Shift_Del DEL T T - TCGA-EE-A2GK-06A-11D-A196-08 TCGA-EE-A2GK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d39d79f-ebea-463b-af46-7a59ef21ed1f 76a32d10-71f6-444c-93de-e96ae7e4ffdb g.chr6:42196333delT ENST00000541110.1 - 18 3981 c.3413delA c.(3412-3414)agfs p.K1138fs TRERF1_ENST00000340840.2_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000372922.4_Frame_Shift_Del_p.K1118fs|TRERF1_ENST00000354325.2_Frame_Shift_Del_p.K1035fs|TRERF1_ENST00000372917.4_Frame_Shift_Del_p.K1047fs Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 1118 Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CTTCTGAGCCTTTTGCCTCTG 0.542 8 826 --- --- --- --- NUTM2F 54754 broad.mit.edu 37 9 97080945 97080947 + In_Frame_Del DEL AGA AGA - TCGA-EE-A2GK-06A-11D-A196-08 TCGA-EE-A2GK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d39d79f-ebea-463b-af46-7a59ef21ed1f 76a32d10-71f6-444c-93de-e96ae7e4ffdb g.chr9:97080945_97080947delAGA ENST00000253262.4 - 7 2091_2093 c.2071_2073delTCT c.(2071-2073)del p.S691del NUTM2F_ENST00000335456.7_Intron|NUTM2F_ENST00000341207.4_In_Frame_Del_p.S676del NM_017561.1 NP_060031.1 NUT family member 2F p.S557delS(1) TGCTGGCAGGAGAAGGTGATGGG 0.611 6 5 --- --- --- --- HNF1A 6927 broad.mit.edu 37 12 121432115 121432115 + Frame_Shift_Del DEL G G - TCGA-EE-A2GK-06A-11D-A196-08 TCGA-EE-A2GK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d39d79f-ebea-463b-af46-7a59ef21ed1f 76a32d10-71f6-444c-93de-e96ae7e4ffdb g.chr12:121432115delG ENST00000257555.6 + 4 1088 c.862delG c.(862-864)ggfs p.G288fs HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000402929.1_Frame_Shift_Del_p.G288fs|HNF1A_ENST00000400024.2_Frame_Shift_Del_p.G288fs|HNF1A_ENST00000544413.1_Frame_Shift_Del_p.G288fs|HNF1A_ENST00000541395.1_Frame_Shift_Del_p.G288fs|HNF1A_ENST00000543427.1_Frame_Shift_Del_p.G171fs P20823 HNF1A_HUMAN HNF1 homeobox A 288 glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 221 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CACGTACAGCGGGCCCCCCCC 0.672 Hepatic Adenoma, Familial Clustering of 10 272 --- --- --- --- CHD9 80205 broad.mit.edu 37 16 53191095 53191095 + Frame_Shift_Del DEL T T - TCGA-EE-A2GK-06A-11D-A196-08 TCGA-EE-A2GK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d39d79f-ebea-463b-af46-7a59ef21ed1f 76a32d10-71f6-444c-93de-e96ae7e4ffdb g.chr16:53191095delT ENST00000566029.1 + 2 1303 c.1094delT c.(1093-1095)gtfs p.V365fs CHD9_ENST00000398510.3_Frame_Shift_Del_p.V365fs|CHD9_ENST00000447540.1_Frame_Shift_Del_p.V365fs|CHD9_ENST00000564845.1_Frame_Shift_Del_p.V365fs Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 365 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) CCAGATCCTGTTGACTCAGGA 0.343 2 4 --- --- --- ---