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 POTEM 641455 broad.mit.edu 37 14 20010235 20010235 + Missense_Mutation SNP A A G TCGA-SR-A6MT-01A-11D-A35I-08 TCGA-SR-A6MT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcacf523-f3c2-4869-a508-495c63961c4b 035aa651-02f7-48c3-b98b-23baf22ea71d g.chr14:20010235A>G ENST00000551509.1 - 5 974 c.923T>C c.(922-924)gTt>gCt p.V308A RP11-244H18.1_ENST00000547584.1_lincRNA NM_001145442.1 NP_001138914.1 A6NI47 POTEM_HUMAN POTE ankyrin domain family, member M 308 endometrium(4)|kidney(1)|lung(4) 9 AAGTATGAGAACAGTTCTAAA 0.368000 3 37 0 0 1 0 0 HPS4 89781 broad.mit.edu 37 22 26854435 26854435 + Missense_Mutation SNP C C T TCGA-SR-A6MT-01A-11D-A35I-08 TCGA-SR-A6MT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcacf523-f3c2-4869-a508-495c63961c4b 035aa651-02f7-48c3-b98b-23baf22ea71d g.chr22:26854435C>T ENST00000398145.2 - 12 2438 c.1822G>A c.(1822-1824)Gac>Aac p.D608N HPS4_ENST00000493455.2_5'UTR|HPS4_ENST00000402105.3_Missense_Mutation_p.D603N|HPS4_ENST00000398141.1_Missense_Mutation_p.D621N|HPS4_ENST00000336873.5_Missense_Mutation_p.D608N NM_022081.4 NP_071364.4 Q9NQG7 HPS4_HUMAN Hermansky-Pudlak syndrome 4 608 lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting lysosome|melanosome|membrane fraction|platelet dense granule protein homodimerization activity breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 32 TGAATGCGGTCGTAATGTGTG 0.577000 Hermansky-Pudlak syndrome 4 43 0 0 1 0 0 MIR514A1 574516 broad.mit.edu 37 X 146360769 146360769 + RNA SNP C C A rs147928636 by1000genomes TCGA-SR-A6MT-01A-11D-A35I-08 TCGA-SR-A6MT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcacf523-f3c2-4869-a508-495c63961c4b 035aa651-02f7-48c3-b98b-23baf22ea71d g.chrX:146360769C>A ENST00000385133.1 - 0 93 NR_030238.1 GTCTGTCGTACGTGTCATGCG 0.408000 3 40 0.004672 0.004672 1 1 0 KCNT2 343450 broad.mit.edu 37 1 196398825 196398825 + Missense_Mutation SNP T T C TCGA-SR-A6MT-01A-11D-A35I-08 TCGA-SR-A6MT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcacf523-f3c2-4869-a508-495c63961c4b 035aa651-02f7-48c3-b98b-23baf22ea71d g.chr1:196398825T>C ENST00000367433.5 - 9 802 c.701A>G c.(700-702)tAt>tGt p.Y234C KCNT2_ENST00000294725.8_Missense_Mutation_p.Y234C|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000367431.4_Missense_Mutation_p.Y234C|KCNT2_ENST00000498426.1_5'UTR Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 234 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 AATGCAGAAATAAAGGGAGTC 0.388000 11 12 0 0 1 0 0 CYP4Z1 199974 broad.mit.edu 37 1 47548102 47548102 + Missense_Mutation SNP C C A TCGA-SR-A6MT-01A-11D-A35I-08 TCGA-SR-A6MT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcacf523-f3c2-4869-a508-495c63961c4b 035aa651-02f7-48c3-b98b-23baf22ea71d g.chr1:47548102C>A ENST00000334194.3 + 4 464 c.461C>A c.(460-462)aCc>aAc p.T154N NM_178134.2 NP_835235.1 Q86W10 CP4Z1_HUMAN cytochrome P450, family 4, subfamily Z, polypeptide 1 154 endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 11 ATATTCATCACCATGATGTCT 0.483000 3 20 0.00024832 0.000260145 1 1 0 RSBN1L 222194 broad.mit.edu 37 7 77326163 77326163 + Missense_Mutation SNP G G A TCGA-SR-A6MT-01A-11D-A35I-08 TCGA-SR-A6MT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcacf523-f3c2-4869-a508-495c63961c4b 035aa651-02f7-48c3-b98b-23baf22ea71d g.chr7:77326163G>A ENST00000334955.7 + 1 404 c.377G>A c.(376-378)cGc>cAc p.R126H NM_198467.2 NP_940869.2 Q6PCB5 RSBNL_HUMAN round spermatid basic protein 1-like 126 nucleus central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CCGGTGCCGCGCAAACTGCTG 0.677000 3 27 0 0 1 0 0 HAP1 9001 broad.mit.edu 37 17 39884515 39884515 + Nonsense_Mutation SNP G G A TCGA-SR-A6MT-01A-11D-A35I-08 TCGA-SR-A6MT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcacf523-f3c2-4869-a508-495c63961c4b 035aa651-02f7-48c3-b98b-23baf22ea71d g.chr17:39884515G>A ENST00000393939.2 - 7 1147 c.1138C>T c.(1138-1140)Cag>Tag p.Q380* HAP1_ENST00000341193.5_Nonsense_Mutation_p.Q388*|HAP1_ENST00000310778.5_Nonsense_Mutation_p.Q380*|JUP_ENST00000540235.1_Intron|HAP1_ENST00000347901.4_Nonsense_Mutation_p.Q380* P54257 HAP1_HUMAN huntingtin-associated protein 1 380 Glu-rich.|HAP1 N-terminal. brain development|protein localization|synaptic transmission actin cytoskeleton protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1) 21 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.0677) TCCTGCTGCTGCCGTTCATAG 0.657000 4 42 0 0 1 0 0 KCNH6 81033 broad.mit.edu 37 17 61619703 61619703 + Nonsense_Mutation SNP C C T TCGA-SR-A6MT-01A-11D-A35I-08 TCGA-SR-A6MT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcacf523-f3c2-4869-a508-495c63961c4b 035aa651-02f7-48c3-b98b-23baf22ea71d g.chr17:61619703C>T ENST00000583023.1 + 9 2067 c.2056C>T c.(2056-2058)Cag>Tag p.Q686* KCNH6_ENST00000314672.5_Nonsense_Mutation_p.Q686*|KCNH6_ENST00000456941.2_Nonsense_Mutation_p.Q633*|KCNH6_ENST00000581784.1_Nonsense_Mutation_p.Q633* NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 686 regulation of transcription, DNA-dependent|signal transduction breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) GCACAAGATCCAGCGGGCAGA 0.592000 16 23 0 0 1 0 0 DAK 26007 broad.mit.edu 37 11 61110893 61110893 + Silent SNP C C A TCGA-SR-A6MT-01A-11D-A35I-08 TCGA-SR-A6MT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcacf523-f3c2-4869-a508-495c63961c4b 035aa651-02f7-48c3-b98b-23baf22ea71d g.chr11:61110893C>A ENST00000394900.3 + 11 1174 c.945C>A c.(943-945)acC>acA p.T315T NM_015533.3 NP_056348.2 Q3LXA3 DHAK_HUMAN dihydroxyacetone kinase 2 homolog (S. cerevisiae) 315 DhaK. glycerol metabolic process cytosol ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 23 TTTCTCTCACCCTCCTGCTGG 0.592000 5 54 1.06961e-07 1.17657e-07 1 1 0 PSG5 5673 broad.mit.edu 37 19 43690622 43690622 + Translation_Start_Site SNP C C T rs138160369 by1000genomes TCGA-SR-A6MT-01A-11D-A35I-08 TCGA-SR-A6MT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcacf523-f3c2-4869-a508-495c63961c4b 035aa651-02f7-48c3-b98b-23baf22ea71d g.chr19:43690622C>T ENST00000404580.1 - 0 24 PSG5_ENST00000599812.1_De_novo_Start_OutOfFrame|PSG5_ENST00000407356.1_De_novo_Start_OutOfFrame|PSG5_ENST00000366175.3_De_novo_Start_OutOfFrame|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000342951.6_De_novo_Start_OutOfFrame|PSG5_ENST00000407568.1_De_novo_Start_OutOfFrame Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) TTCCTGAGCACGGCTGTAGGC 0.627000 7 35 0 0 1 0 0 LOC220729 220729 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-SR-A6MT-01A-11D-A35I-08 TCGA-SR-A6MT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcacf523-f3c2-4869-a508-495c63961c4b 035aa651-02f7-48c3-b98b-23baf22ea71d g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 3 64 0 0 1 0 0 SEPT8 23176 broad.mit.edu 37 5 132099470 132099470 + Silent SNP G G C TCGA-SR-A6MT-01A-11D-A35I-08 TCGA-SR-A6MT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcacf523-f3c2-4869-a508-495c63961c4b 035aa651-02f7-48c3-b98b-23baf22ea71d g.chr5:132099470G>C ENST00000296873.7 - 4 745 c.462C>G c.(460-462)ctC>ctG p.L154L SEPT8_ENST00000448933.1_Silent_p.L94L|SEPT8_ENST00000378699.2_Silent_p.L94L|SEPT8_ENST00000378701.1_Silent_p.L152L|SEPT8_ENST00000458488.2_Silent_p.L154L|SEPT8_ENST00000378706.1_Silent_p.L154L|SEPT8_ENST00000378719.2_Silent_p.L154L|SEPT8_ENST00000378721.4_Silent_p.L152L NM_001098812.1|NM_015146.1 NP_001092282.1|NP_055961.1 Q92599 SEPT8_HUMAN septin 8 154 cell cycle septin complex GTP binding|protein binding SEPT8/AFF4(2) kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1) 11 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TGATGAAGTAGAGGCAAACGT 0.512000 7 137 0 0 1 0 0 HLA-A 3105 broad.mit.edu 37 6 29910693 29910693 + Missense_Mutation SNP A A G rs41559716 by1000genomes TCGA-SR-A6MT-01A-11D-A35I-08 TCGA-SR-A6MT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcacf523-f3c2-4869-a508-495c63961c4b 035aa651-02f7-48c3-b98b-23baf22ea71d g.chr6:29910693A>G ENST00000396634.1 + 4 574 c.233A>G c.(232-234)cAg>cGg p.Q78R HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R P30443 1A01_HUMAN major histocompatibility complex, class I, A 78 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.Q78R(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 TGGATAGAGCAGGAGGGGCCG 0.657000 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) 3 10 0 0 1 0 0 MIR514A1 574516 broad.mit.edu 37 X 146360813 146360813 + RNA SNP A A G rs148964961 by1000genomes TCGA-SR-A6MT-01A-11D-A35I-08 TCGA-SR-A6MT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcacf523-f3c2-4869-a508-495c63961c4b 035aa651-02f7-48c3-b98b-23baf22ea71d g.chrX:146360813A>G ENST00000385133.1 - 0 49 NR_030238.1 ATCAAATTTAATTATACATGA 0.433000 4 54 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628283 29628283 + Silent SNP G G C TCGA-SR-A6MT-01A-11D-A35I-08 TCGA-SR-A6MT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcacf523-f3c2-4869-a508-495c63961c4b 035aa651-02f7-48c3-b98b-23baf22ea71d g.chr20:29628283G>C ENST00000278882.3 + 6 665 c.285G>C c.(283-285)ggG>ggC p.G95G FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G p.G95G(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGAAGCAGGGGACATAGAAG 0.378000 4 59 0 0 1 0 0 IGHA2 3494 broad.mit.edu 37 14 106054030 106054030 + RNA SNP C C G TCGA-SR-A6MT-01A-11D-A35I-08 TCGA-SR-A6MT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcacf523-f3c2-4869-a508-495c63961c4b 035aa651-02f7-48c3-b98b-23baf22ea71d g.chr14:106054030C>G ENST00000390539.2 - 0 488 AGAGGTCACGCTCAGGTGGTC 0.632000 3 16 0 0 1 0 0 FXR1 8087 broad.mit.edu 37 3 180630496 180630496 + Missense_Mutation SNP T T G TCGA-SR-A6MT-01A-11D-A35I-08 TCGA-SR-A6MT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcacf523-f3c2-4869-a508-495c63961c4b 035aa651-02f7-48c3-b98b-23baf22ea71d g.chr3:180630496T>G ENST00000357559.4 + 1 407 c.23T>G c.(22-24)gTt>gGt p.V8G FXR1_ENST00000491674.1_Missense_Mutation_p.V8G|FXR1_ENST00000491062.1_Missense_Mutation_p.V8G|FXR1_ENST00000468861.1_5'UTR|FXR1_ENST00000445140.2_Missense_Mutation_p.V8G|FXR1_ENST00000305586.7_5'UTR NM_001013438.2|NM_005087.3 NP_001013456.1|NP_005078.2 P51114 FXR1_HUMAN fragile X mental retardation, autosomal homolog 1 8 apoptosis|cell differentiation|muscle organ development nucleolus|polysome breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2) 26 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) ACGGTGGAGGTTCGCGGCTCT 0.592000 OREG0015934 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 65 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114269973 114269973 + Silent SNP A A G rs149757187 TCGA-SR-A6MT-01A-11D-A35I-08 TCGA-SR-A6MT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcacf523-f3c2-4869-a508-495c63961c4b 035aa651-02f7-48c3-b98b-23baf22ea71d g.chr7:114269973A>G ENST00000393500.3 + 11 1105 c.285A>G c.(283-285)caA>caG p.Q95Q FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q O15409 FOXP2_HUMAN forkhead box P2 170 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.Q195Q(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 agcagcagcaacaacaacaac 0.502000 3 58 0 0 1 0 0 TCF23 150921 broad.mit.edu 37 2 27372135 27372135 + Frame_Shift_Del DEL G G - TCGA-SR-A6MT-01A-11D-A35I-08 TCGA-SR-A6MT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcacf523-f3c2-4869-a508-495c63961c4b 035aa651-02f7-48c3-b98b-23baf22ea71d g.chr2:27372135delG ENST00000296096.5 + 1 264 c.134delG c.(133-135)tgfs p.W45fs TCF23_ENST00000407815.3_3'UTR NM_175769.2 NP_786951.1 Q7RTU1 TCF23_HUMAN transcription factor 23 45 cell differentiation|muscle organ development|regulation of transcription, DNA-dependent nucleus large_intestine(2)|lung(11)|prostate(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAGGACCCGTGGGAAGAAAGA 0.637 2 4 --- --- --- --- SOX4 6659 broad.mit.edu 37 6 21595016 21595016 + Frame_Shift_Del DEL T T - TCGA-SR-A6MT-01A-11D-A35I-08 TCGA-SR-A6MT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcacf523-f3c2-4869-a508-495c63961c4b 035aa651-02f7-48c3-b98b-23baf22ea71d g.chr6:21595016delT ENST00000244745.1 + 1 1045 c.251delT c.(250-252)agfs p.M84fs SOX4_ENST00000543472.1_Frame_Shift_Del_p.M84fs NM_003107.2 NP_003098.1 Q06945 SOX4_HUMAN SRY (sex determining region Y)-box 4 84 canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation mitochondrion|nucleus core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 6 Ovarian(93;0.163) all cancers(50;0.0751)|Epithelial(50;0.155) TCGCCCGACATGCACAACGCC 0.607 2 4 --- --- --- --- PMS2P4 5382 broad.mit.edu 37 7 66762432 66762432 + RNA DEL G G - rs60169909 TCGA-SR-A6MT-01A-11D-A35I-08 TCGA-SR-A6MT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcacf523-f3c2-4869-a508-495c63961c4b 035aa651-02f7-48c3-b98b-23baf22ea71d g.chr7:66762432delG ENST00000414507.1 - 0 184 gtctcaaaaagaaaaaaaaaa 0.408 3 6 --- --- --- --- REXO1L1 254958 broad.mit.edu 37 8 86574438 86574439 + Frame_Shift_Del DEL AC AC - TCGA-SR-A6MT-01A-11D-A35I-08 TCGA-SR-A6MT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcacf523-f3c2-4869-a508-495c63961c4b 035aa651-02f7-48c3-b98b-23baf22ea71d g.chr8:86574438_86574439delAC ENST00000379010.2 - 1 1287_1288 c.1288_1289delGT c.(1288-1290)afs p.V430fs NM_172239.4 NP_758439.4 Q8IX06 GOR_HUMAN REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1 430 GOR1-125 epitope. cytoplasm|nucleus exonuclease activity|nucleic acid binding endometrium(1)|lung(4) 5 CTGGTCGCGTACACAGCGGCCC 0.658 4 6 --- --- --- ---