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 MYT1 4661 broad.mit.edu 37 20 62854521 62854521 + Silent SNP C C T TCGA-RT-A6YC-01A-12D-A35D-08 TCGA-RT-A6YC-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 583d10a7-9d12-45d1-861b-5c2231935b2e 7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19 g.chr20:62854521C>T ENST00000536311.1 + 15 2899 c.2535C>T c.(2533-2535)caC>caT p.H845H MYT1_ENST00000360149.4_Silent_p.H520H|MYT1_ENST00000328439.1_Silent_p.H818H Q01538 MYT1_HUMAN myelin transcription factor 1 818 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) ACGCCTCCCACCGCAGGTTTG 0.612000 4 122 0 0 1 0 0 NFYB 4801 broad.mit.edu 37 12 104517193 104517193 + Silent SNP T T C TCGA-RT-A6YC-01A-12D-A35D-08 TCGA-RT-A6YC-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 583d10a7-9d12-45d1-861b-5c2231935b2e 7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19 g.chr12:104517193T>C ENST00000240055.3 - 5 467 c.240A>G c.(238-240)aaA>aaG p.K80K NFYB_ENST00000551727.1_Silent_p.K80K NM_006166.3 NP_006157.1 P25208 NFYB_HUMAN nuclear transcription factor Y, beta 80 B domain. CCAAT-binding factor complex repressing transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 6 CTTTGGCATCTTTTGCAATCT 0.348000 3 27 0 0 1 0 0 LOC101927648 101927648 broad.mit.edu 37 1 143403563 143403563 + RNA SNP C C A TCGA-RT-A6YC-01A-12D-A35D-08 TCGA-RT-A6YC-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 583d10a7-9d12-45d1-861b-5c2231935b2e 7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19 g.chr1:143403563C>A ENST00000423249.1 - 0 59 TTTCTTTGGCCACTTTGGCTG 0.453000 3 9 0.00909568 0.00909568 1 1 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261693 39261693 + Missense_Mutation SNP A A T rs113059833 by1000genomes TCGA-RT-A6YC-01A-12D-A35D-08 TCGA-RT-A6YC-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 583d10a7-9d12-45d1-861b-5c2231935b2e 7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19 g.chr17:39261693A>T ENST00000391415.1 + 1 110 c.53A>T c.(52-54)gAc>gTc p.D18V NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 18 keratin filament p.D18V(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 TGCGGCCAAGACCTCTGTCAG 0.627000 6 17 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74005061 74005061 + Missense_Mutation SNP C C T TCGA-RT-A6YC-01A-12D-A35D-08 TCGA-RT-A6YC-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 583d10a7-9d12-45d1-861b-5c2231935b2e 7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19 g.chr17:74005061C>T ENST00000301607.3 - 22 4478 c.4225G>A c.(4225-4227)Gtg>Atg p.V1409M EVPL_ENST00000586740.1_Missense_Mutation_p.V1431M NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1409 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 AGCTGCTGCACCTCAAGCTCT 0.701000 18 36 0 0 1 0 0 SACM1L 22908 broad.mit.edu 37 3 45748365 45748365 + Missense_Mutation SNP A A G TCGA-RT-A6YC-01A-12D-A35D-08 TCGA-RT-A6YC-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 583d10a7-9d12-45d1-861b-5c2231935b2e 7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19 g.chr3:45748365A>G ENST00000389061.5 + 4 503 c.299A>G c.(298-300)tAt>tGt p.Y100C SACM1L_ENST00000418611.1_5'UTR|SACM1L_ENST00000541314.1_Intron|SACM1L_ENST00000464524.1_3'UTR NM_014016.3 NP_054735.3 Q9NTJ5 SAC1_HUMAN SAC1 suppressor of actin mutations 1-like (yeast) 100 Golgi apparatus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277) GTCCTTTCTTATAAGAAGACA 0.373000 24 40 0 0 1 0 0 GYPE 2996 broad.mit.edu 37 4 144826671 144826671 + Translation_Start_Site SNP C C T TCGA-RT-A6YC-01A-12D-A35D-08 TCGA-RT-A6YC-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 583d10a7-9d12-45d1-861b-5c2231935b2e 7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19 g.chr4:144826671C>T ENST00000358615.4 - 0 41 GYPE_ENST00000437468.2_De_novo_Start_OutOfFrame NM_198682.2 NP_941391.2 P15421 GLPE_HUMAN glycophorin E (MNS blood group) integral to plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 5 all_hematologic(180;0.158) CCTGAGATCACGAGCTGGCTC 0.398000 5 53 0 0 1 0 0 MIR548A1 693125 broad.mit.edu 37 6 18572094 18572094 + RNA SNP T T A TCGA-RT-A6YC-01A-12D-A35D-08 TCGA-RT-A6YC-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 583d10a7-9d12-45d1-861b-5c2231935b2e 7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19 g.chr6:18572094T>A ENST00000385041.1 + 0 80 NR_030312.1 caattacttttgcaccaaACC 0.353000 9 23 0 0 1 0 0 OR7G3 390883 broad.mit.edu 37 19 9237506 9237506 + Missense_Mutation SNP C C T TCGA-RT-A6YC-01A-12D-A35D-08 TCGA-RT-A6YC-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 583d10a7-9d12-45d1-861b-5c2231935b2e 7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19 g.chr19:9237506C>T ENST00000305444.2 - 1 120 c.121G>A c.(121-123)Ggg>Agg p.G41R NM_001001958.1 NP_001001958.1 Q8NG95 OR7G3_HUMAN olfactory receptor, family 7, subfamily G, member 3 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 AGCAGGTTCCCCAGCATTGTG 0.542000 3 52 0 0 1 0 0 AHR 196 broad.mit.edu 37 7 17382667 17382667 + Silent SNP G G A TCGA-RT-A6YC-01A-12D-A35D-08 TCGA-RT-A6YC-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 583d10a7-9d12-45d1-861b-5c2231935b2e 7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19 g.chr7:17382667G>A ENST00000242057.4 + 11 3169 c.2526G>A c.(2524-2526)ttG>ttA p.L842L NM_001621.4 NP_001612.1 P35869 AHR_HUMAN aryl hydrocarbon receptor 842 LNETYPAELNNINNTQTTTHLQPLHHPSEARPFPDLTSSGF L -> FK (in Ref. 1; BAA03857). apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3) 33 Lung NSC(10;0.0392)|all_lung(11;0.0754) TTCCTGATTTGACATCCAGTG 0.368000 7 280 0 0 1 0 0 HIST1H2AA 221613 broad.mit.edu 37 6 25726526 25726527 + Frame_Shift_Ins INS - - T TCGA-RT-A6YC-01A-12D-A35D-08 TCGA-RT-A6YC-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 583d10a7-9d12-45d1-861b-5c2231935b2e 7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19 g.chr6:25726526_25726527insT ENST00000297012.3 - 1 263_264 c.229_230insA c.(229-231)tcgfs p.S77fs NM_170745.3 NP_734466.1 Q96QV6 H2A1A_HUMAN histone cluster 1, H2aa 77 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(2)|large_intestine(2)|lung(8) 13 AATAATGCGAGTTTTTTTGTTA 0.545 31 73 --- --- --- --- LOC101927755 101927755 broad.mit.edu 37 17 58050841 58050841 + RNA DEL T T - rs74362551 TCGA-RT-A6YC-01A-12D-A35D-08 TCGA-RT-A6YC-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 583d10a7-9d12-45d1-861b-5c2231935b2e 7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19 g.chr17:58050841delT ENST00000586209.1 + 0 158 acagggtttcTTTTTTTTTTT 0.413 3 4 --- --- --- --- AC008103.5 0 broad.mit.edu 37 22 18842473 18842473 + RNA DEL G G - rs66618606 TCGA-RT-A6YC-01A-12D-A35D-08 TCGA-RT-A6YC-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 583d10a7-9d12-45d1-861b-5c2231935b2e 7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19 g.chr22:18842473delG ENST00000412938.1 + 0 2208 AGCTGCTGGTGGGGAGGTCTT 0.647 5 5 --- --- --- ---