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 GABRA3 2556 broad.mit.edu 37 X 151532994 151532994 + Missense_Mutation SNP G G C TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chrX:151532994G>C ENST00000370314.4 - 2 287 c.49C>G c.(49-51)Ctt>Gtt p.L17V GABRA3_ENST00000370311.1_Missense_Mutation_p.L17V|GABRA3_ENST00000535043.1_Missense_Mutation_p.L17V NM_000808.3 NP_000799.1 P34903 GBRA3_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 3 17 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding p.L17I(1) breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6) 37 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ATCAGGAAAAGAATCCCAAGG 0.453000 30 127 0 0 1 0 0 KIAA1191 57179 broad.mit.edu 37 5 175779732 175779732 + Missense_Mutation SNP C C T TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chr5:175779732C>T ENST00000298569.4 - 5 760 c.227G>A c.(226-228)aGt>aAt p.S76N KIAA1191_ENST00000533553.1_Intron|KIAA1191_ENST00000510164.1_Missense_Mutation_p.S76N|KIAA1191_ENST00000393725.2_Missense_Mutation_p.S57N|KIAA1191_ENST00000393728.2_Intron|RP11-843P14.2_ENST00000508187.1_RNA NM_020444.3 NP_065177.2 Q96A73 K1191_HUMAN KIAA1191 76 protein binding endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1) 6 all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Kidney(146;0.101) GGAGGGTAGACTGGCCTCTCC 0.527000 13 43 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178928079 178928079 + Missense_Mutation SNP G G A TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chr3:178928079G>A ENST00000263967.3 + 8 1514 c.1357G>A c.(1357-1359)Gaa>Aaa p.E453K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 453 C2 PI3K-type. E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E453K(11)|p.E453Q(5)|p.H450fs*9(1)|p.G451_L456>V(1)|p.P449_L455del(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TCATGGATTAGAAGATTTGCT 0.348000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 20 96 0 0 1 0 0 GMPR 2766 broad.mit.edu 37 6 16295259 16295259 + Missense_Mutation SNP G G A TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chr6:16295259G>A ENST00000259727.4 + 9 994 c.880G>A c.(880-882)Gaa>Aaa p.E294K GMPR_ENST00000544145.1_3'UTR NM_006877.3 NP_006868.3 P36959 GMPR1_HUMAN guanosine monophosphate reductase 294 nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold cytosol GMP reductase activity|metal ion binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 20 Breast(50;0.0427)|Ovarian(93;0.103) all_hematologic(90;0.0895) TAAGACTGTGGAAGTTCCTTA 0.498000 11 55 0 0 1 0 0 OFD1 8481 broad.mit.edu 37 X 13786333 13786333 + Missense_Mutation SNP C C T TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chrX:13786333C>T ENST00000380567.1 + 22 3370 c.2498C>T c.(2497-2499)tCg>tTg p.S833L OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Missense_Mutation_p.S933L|OFD1_ENST00000340096.6_Missense_Mutation_p.S973L O75665 OFD1_HUMAN oral-facial-digital syndrome 1 973 Mediates the interaction with SDCCAG8. cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle centriole|cilium|cytosol|microtubule basal body|nuclear membrane alpha-tubulin binding|gamma-tubulin binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 25 GACCAGGAGTCGGCAGATAAG 0.478000 15 89 0 0 1 0 0 PA2G4 5036 broad.mit.edu 37 12 56504773 56504773 + Missense_Mutation SNP C C T TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chr12:56504773C>T ENST00000303305.6 + 10 1287 c.868C>T c.(868-870)Cgg>Tgg p.R290W PA2G4_ENST00000552766.1_Intron|RP11-603J24.17_ENST00000548595.1_RNA NM_006191.2 NP_006182.2 Q9UQ80 PA2G4_HUMAN proliferation-associated 2G4, 38kDa 290 cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing cytoplasm|nucleolus|ribonucleoprotein complex DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(18;0.0739) GAAGAAGGCTCGGATGGGTGT 0.418000 13 46 0 0 1 0 0 ING1 3621 broad.mit.edu 37 13 111372025 111372025 + Nonsense_Mutation SNP C C T TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chr13:111372025C>T ENST00000375774.3 + 2 1477 c.1015C>T c.(1015-1017)Cga>Tga p.R339* ING1_ENST00000375775.3_Nonsense_Mutation_p.R127*|ING1_ENST00000333219.7_Nonsense_Mutation_p.R196*|ING1_ENST00000338450.7_Nonsense_Mutation_p.R152* NM_005537.4 NP_005528.3 Q9UK53 ING1_HUMAN inhibitor of growth family, member 1 339 cell cycle|negative regulation of cell growth|negative regulation of cell proliferation nucleus zinc ion binding p.R196*(3)|p.R339*(1)|p.R152*(1) endometrium(4)|large_intestine(6)|lung(1)|ovary(1) 12 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.188) CAAGGCGGAGCGAGAGGCGTC 0.627000 13 39 0 0 1 0 0 HCFC1 3054 broad.mit.edu 37 X 153228837 153228837 + Missense_Mutation SNP A A C TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chrX:153228837A>C ENST00000310441.7 - 4 1517 c.551T>G c.(550-552)gTg>gGg p.V184G HCFC1_ENST00000354233.3_Missense_Mutation_p.V184G|HCFC1_ENST00000369984.4_Missense_Mutation_p.V184G NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 184 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCAGGCTACCACTCCAGAGCC 0.522000 13 61 0 0 1 0 0 DFNA5 1687 broad.mit.edu 37 7 24789217 24789217 + Silent SNP G G A TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chr7:24789217G>A ENST00000342947.3 - 2 602 c.177C>T c.(175-177)ggC>ggT p.G59G DFNA5_ENST00000545231.1_5'UTR|DFNA5_ENST00000409970.1_Intron|DFNA5_ENST00000409775.3_Silent_p.G59G|DFNA5_ENST00000419307.1_Intron NM_004403.2 NP_004394.1 O60443 DFNA5_HUMAN deafness, autosomal dominant 5 59 sensory perception of sound endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1) 19 TGAGTACATCGCCAAGGGTGA 0.388000 4 166 0 0 1 0 0 C1orf106 55765 broad.mit.edu 37 1 200880683 200880683 + Silent SNP C C T TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chr1:200880683C>T ENST00000367342.4 + 9 1517 c.1317C>T c.(1315-1317)ccC>ccT p.P439P C1orf106_ENST00000413687.2_Silent_p.P354P NM_018265.3 NP_060735.3 Q3KP66 CA106_HUMAN chromosome 1 open reading frame 106 439 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 CCTGCTTTCCCGCGACCAAGC 0.682000 32 192 0 0 1 0 0 BAG3 9531 broad.mit.edu 37 10 121432114 121432114 + Silent SNP G G A rs147259596 byFrequency TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chr10:121432114G>A ENST00000369085.3 + 3 1161 c.855G>A c.(853-855)acG>acA p.T285T NM_004281.3 NP_004272.2 O95817 BAG3_HUMAN BCL2-associated athanogene 3 285 anti-apoptosis|apoptosis|protein folding cytosol endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 20 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148) GGAGCAGCACGCCACTCCACT 0.657000 7 63 0 0 1 0 0 TRAF6 7189 broad.mit.edu 37 11 36512016 36512016 + Missense_Mutation SNP C C A TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chr11:36512016C>A ENST00000526995.1 - 7 1187 c.941G>T c.(940-942)cGg>cTg p.R314L TRAF6_ENST00000348124.5_Missense_Mutation_p.R314L|TRAF6_ENST00000529150.1_5'UTR NM_004620.3 NP_004611.1 Q9Y4K3 TRAF6_HUMAN TNF receptor-associated factor 6, E3 ubiquitin protein ligase 314 Interaction with TAX1BP1. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|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|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1) 27 all_lung(20;0.211) all_hematologic(20;0.107) AGTCAGCTCCCGGATTTGATG 0.458000 4 172 0.184627 0.187984 1 1 0 DLC1 10395 broad.mit.edu 37 8 12957910 12957910 + Silent SNP G G A TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chr8:12957910G>A ENST00000276297.4 - 9 2345 c.1936C>T c.(1936-1938)Ctg>Ttg p.L646L DLC1_ENST00000358919.2_Silent_p.L209L|DLC1_ENST00000520226.1_Silent_p.L135L|DLC1_ENST00000512044.2_Silent_p.L243L NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 646 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 AAGCTGGACAGTTCCTTGGGA 0.567000 4 126 0 0 1 0 0 AOC1 26 broad.mit.edu 37 7 150555011 150555011 + Missense_Mutation SNP G G A TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chr7:150555011G>A ENST00000493429.1 + 4 2037 c.1453G>A c.(1453-1455)Gtc>Atc p.V485I AOC1_ENST00000416793.2_Missense_Mutation_p.V485I|AOC1_ENST00000467291.1_Missense_Mutation_p.V485I|AOC1_ENST00000360937.4_Missense_Mutation_p.V485I amine oxidase, copper containing 1 CACTGGCTACGTCCACGCCAC 0.557000 21 106 0 0 1 0 0 FRMPD4 9758 broad.mit.edu 37 X 12720061 12720061 + Silent SNP C C T TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chrX:12720061C>T ENST00000380682.1 + 10 1508 c.1002C>T c.(1000-1002)gcC>gcT p.A334A NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 334 FERM. positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 TGCGGCTGGCCGCATTACAAA 0.507000 OREG0019670 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 126 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98508712 98508712 + Missense_Mutation SNP G G A TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chr7:98508712G>A ENST00000359863.4 + 17 2034 c.1825G>A c.(1825-1827)Gga>Aga p.G609R TRRAP_ENST00000355540.3_Missense_Mutation_p.G609R|TRRAP_ENST00000446306.3_Missense_Mutation_p.G608R NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 609 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CCAGATAGCAGGAAATGGACA 0.453000 10 66 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 4 55 0 0 1 0 0 POT1 25913 broad.mit.edu 37 7 124499166 124499166 + Splice_Site SNP C C A TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chr7:124499166C>A ENST00000357628.3 - 9 1145 c.546_splice c.e9-1 p.V183_splice POT1_ENST00000393329.1_Splice_Site_p.V52_splice NM_015450.2 NP_056265.2 Q9NUX5 POTE1_HUMAN protection of telomeres 1 183 DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase nuclear telomere cap complex|nucleoplasm DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity p.V183L(2) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 CCATCCCATACCTGCCATAAG 0.353000 8 40 1.12685e-05 1.23733e-05 1 1 0 ZP2 7783 broad.mit.edu 37 16 21214448 21214448 + Missense_Mutation SNP A A G rs142277591 TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chr16:21214448A>G ENST00000574002.1 - 11 1579 c.1097T>C c.(1096-1098)aTa>aCa p.I366T AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Missense_Mutation_p.I366T|ZP2_ENST00000574091.1_Missense_Mutation_p.I366T Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 (sperm receptor) 366 binding of sperm to zona pellucida|intracellular protein transport endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1) 41 GBM - Glioblastoma multiforme(48;0.0573) GTCTTTACCTATAGAAACGGG 0.418000 12 47 0 0 1 0 0 PDCD4 27250 broad.mit.edu 37 10 112641024 112641024 + Missense_Mutation SNP G G A TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chr10:112641024G>A ENST00000393104.2 + 4 404 c.44G>A c.(43-45)gGt>gAt p.G15D PDCD4_ENST00000280154.7_Missense_Mutation_p.G26D NM_145341.3 NP_663314.1 Q53EL6 PDCD4_HUMAN programmed cell death 4 (neoplastic transformation inhibitor) 26 apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent cytosol|nucleus protein binding|RNA binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 13 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125) CTCTTTTCCGGTGATGAAGAA 0.318000 19 101 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 16 92 0 0 1 0 0 MAX 4149 broad.mit.edu 37 14 65544747 65544747 + Missense_Mutation SNP C C T TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chr14:65544747C>T ENST00000284165.6 - 4 327 c.179G>A c.(178-180)cGg>cAg p.R60Q MAX_ENST00000557277.1_5'UTR|MAX_ENST00000341653.2_Intron|MAX_ENST00000358402.4_Missense_Mutation_p.R51Q|MAX_ENST00000556979.1_Missense_Mutation_p.R60Q|MAX_ENST00000557746.1_Missense_Mutation_p.R51Q|MAX_ENST00000358664.4_Missense_Mutation_p.R60Q|MAX_ENST00000555932.1_Intron|MAX_ENST00000556443.1_Missense_Mutation_p.R51Q|MAX_ENST00000555419.1_Missense_Mutation_p.R24Q|MAX_ENST00000555667.1_Missense_Mutation_p.R51Q NM_145113.1 NP_660088.1 P61244 MAX_HUMAN MYC associated factor X 60 Helix-loop-helix motif. transcription from RNA polymerase II promoter cytoplasm|MLL1 complex sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.R60Q(5) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 17 all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999) GATTTGGGCCCGGGATGCCTG 0.498000 19 60 0 0 1 0 0 COL27A1 85301 broad.mit.edu 37 9 117050747 117050747 + Missense_Mutation SNP G G A TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chr9:117050747G>A ENST00000356083.3 + 42 4391 c.4000G>A c.(4000-4002)Gag>Aag p.E1334K NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 1334 Collagen-like 12.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 GGAGCAGGGCGAGGACGGCAA 0.637000 4 17 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21730916 21730916 + Missense_Mutation SNP G G T rs111245273 by1000genomes TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chr17:21730916G>T ENST00000584755.1 + 2 615 c.218G>T c.(217-219)cGg>cTg p.R73L UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000584398.1_Intron p.R73L(24) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCGGAGAGGTGGT 0.552000 3 71 0.150653 0.156233 1 1 0 ADAMTS7 11173 broad.mit.edu 37 15 79059041 79059041 + Missense_Mutation SNP T T C TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chr15:79059041T>C ENST00000388820.4 - 19 3422 c.3212A>G c.(3211-3213)aAt>aGt p.N1071S NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 1071 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.N1071S(4) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 CTCGTGGAAATTGATGAAATT 0.617000 4 44 0 0 1 0 0 VIL1 7429 broad.mit.edu 37 2 219296838 219296838 + Missense_Mutation SNP G G A TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chr2:219296838G>A ENST00000248444.5 + 12 1361 c.1273G>A c.(1273-1275)Gac>Aac p.D425N VIL1_ENST00000392114.2_Missense_Mutation_p.D114N NM_007127.2 NP_009058.2 P09327 VILI_HUMAN villin 1 425 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity p.D425Y(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTATGGGGGCGACTGCTACCT 0.592000 6 46 0 0 1 0 0 AHRR 57491 broad.mit.edu 37 5 413500 413500 + Silent SNP G G A TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chr5:413500G>A ENST00000316418.5 + 5 449 c.405G>A c.(403-405)acG>acA p.T135T AHRR_ENST00000512529.1_5'UTR|AHRR_ENST00000505113.1_Silent_p.T135T NM_020731.4 NP_065782.2 A9YTQ3 AHRR_HUMAN aryl-hydrocarbon receptor repressor 135 PAS. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1) 20 Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863) CAGAAGGGACGATATTTTATG 0.403000 21 82 0 0 1 0 0 NLGN4X 57502 broad.mit.edu 37 X 5811260 5811260 + Silent SNP C C T TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chrX:5811260C>T ENST00000381095.3 - 6 2676 c.2049G>A c.(2047-2049)gcG>gcA p.A683A NLGN4X_ENST00000381092.1_Silent_p.A683A|NLGN4X_ENST00000538097.1_Silent_p.A683A|NLGN4X_ENST00000381093.2_Silent_p.A703A|NLGN4X_ENST00000275857.6_Silent_p.A683A NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 683 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 AGAGGAGCGACGCCCCGACGG 0.522000 23 92 0 0 1 0 0 RAD51AP1 10635 broad.mit.edu 37 12 4668029 4668029 + Missense_Mutation SNP C C T rs140432356 byFrequency TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chr12:4668029C>T ENST00000228843.9 + 10 979 c.929C>T c.(928-930)tCt>tTt p.S310F RAD51AP1_ENST00000352618.4_Missense_Mutation_p.S293F|RAD51AP1_ENST00000543041.1_Missense_Mutation_p.S191F|RAD51AP1_ENST00000544927.1_Silent_p.L224L|RAD51AP1_ENST00000544931.1_3'UTR|RAD51AP1_ENST00000321524.7_Missense_Mutation_p.S260F NM_001130862.1 NP_001124334.1 Q96B01 R51A1_HUMAN RAD51 associated protein 1 310 double-strand break repair via homologous recombination double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1) 13 Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389) TCAGCGGCATCTGGAGGTAGC 0.418000 11 60 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89400165 89400165 + Missense_Mutation SNP G G T TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chr15:89400165G>T ENST00000439576.2 + 12 4723 c.4349G>T c.(4348-4350)gGg>gTg p.G1450V ACAN_ENST00000561243.1_Missense_Mutation_p.G1450V|ACAN_ENST00000559004.1_Missense_Mutation_p.G1450V|ACAN_ENST00000352105.7_Missense_Mutation_p.G1450V NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 1450 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GAGATCAGCGGGCTTCCTTCT 0.512000 29 115 5.90632e-09 6.61508e-09 1 1 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72685542 72685542 + RNA SNP G G A rs2539086 TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chr7:72685542G>A ENST00000425256.1 - 0 116 NR_002164.1 ACGTTACCATGACAAAAGCAG 0.463000 4 147 0 0 1 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84608504 84608504 + Missense_Mutation SNP C C A TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chr9:84608504C>A ENST00000344803.2 + 4 3166 c.3119C>A c.(3118-3120)aCa>aAa p.T1040K NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 TTAGATTCAACAAGCTCATTC 0.438000 6 261 0.0293803 0.0310434 1 1 0 HCN4 10021 broad.mit.edu 37 15 73616140 73616140 + Missense_Mutation SNP G G A TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chr15:73616140G>A ENST00000261917.3 - 8 3287 c.2294C>T c.(2293-2295)gCc>gTc p.A765V NM_005477.2 NP_005468.1 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 4 765 blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) GGTTGGGGTGGCAGAGGCAGC 0.647000 11 58 0 0 1 0 0 SPTBN2 6712 broad.mit.edu 37 11 66466131 66466131 + Missense_Mutation SNP G G T TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chr11:66466131G>T ENST00000533211.1 - 20 4324 c.3993C>A c.(3991-3993)gaC>gaA p.D1331E SPTBN2_ENST00000309996.2_Missense_Mutation_p.D1331E|SPTBN2_ENST00000529997.1_Missense_Mutation_p.D1331E O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1331 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 TGTCCAGCCAGTCTTTGTTGG 0.617000 4 168 1 1 1 1 0 PHF13 148479 broad.mit.edu 37 1 6681634 6681634 + Silent SNP C C G TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chr1:6681634C>G ENST00000377648.4 + 4 1222 c.840C>G c.(838-840)tcC>tcG p.S280S PHF13_ENST00000495385.1_Intron NM_153812.2 NP_722519.2 Q86YI8 PHF13_HUMAN PHD finger protein 13 280 cell division|chromatin modification|mitotic chromosome condensation nucleoplasm chromatin binding|methylated histone residue binding|zinc ion binding endometrium(3)|large_intestine(1)|lung(3) 7 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642) GCCGGGACTCCAAGTTTGACA 0.577000 16 68 0 0 1 0 0 PLEKHM1 9842 broad.mit.edu 37 17 43545910 43545910 + Missense_Mutation SNP C C T TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chr17:43545910C>T ENST00000430334.3 - 5 1106 c.973G>A c.(973-975)Gga>Aga p.G325R PLEKHM1_ENST00000421073.2_Missense_Mutation_p.G236R NM_014798.2 NP_055613.1 Q9Y4G2 PKHM1_HUMAN pleckstrin homology domain containing, family M (with RUN domain) member 1 325 intracellular signal transduction cytoplasm metal ion binding breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Renal(3;0.0405) TGGCTCAGTCCGTTGGTTGGC 0.517000 9 65 0 0 1 0 0 UGGT1 56886 broad.mit.edu 37 2 128917277 128917277 + Missense_Mutation SNP G G A rs141470228 byFrequency TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chr2:128917277G>A ENST00000375990.3 + 23 2876 c.2473G>A c.(2473-2475)Gcg>Acg p.A825T UGGT1_ENST00000259253.6_Missense_Mutation_p.A849T Q9NYU2 UGGG1_HUMAN UDP-glucose glycoprotein glucosyltransferase 1 849 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 AGCTGACATTGCGGAGTTCTC 0.567000 16 69 0 0 1 0 0 MPPED1 758 broad.mit.edu 37 22 43821094 43821094 + Missense_Mutation SNP G G A TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chr22:43821094G>A ENST00000417669.1 + 2 547 c.103G>A c.(103-105)Gct>Act p.A35T MPPED1_ENST00000542779.1_Missense_Mutation_p.A35T|MPPED1_ENST00000538182.1_Missense_Mutation_p.A68T|MPPED1_ENST00000414469.2_Intron|MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000443721.1_Missense_Mutation_p.A35T O15442 MPPD1_HUMAN metallophosphoesterase domain containing 1 35 hydrolase activity endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1) 13 all_neural(38;0.0244)|Ovarian(80;0.0694) CGTGATGGCCGCTCGGCGGCA 0.662000 3 59 0 0 1 0 0 PHF6 84295 broad.mit.edu 37 X 133527974 133527974 + Missense_Mutation SNP A A G TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chrX:133527974A>G ENST00000332070.3 + 5 612 c.410A>G c.(409-411)aAc>aGc p.N137S PHF6_ENST00000370800.4_Missense_Mutation_p.N137S|PHF6_ENST00000416404.2_Missense_Mutation_p.N103S|PHF6_ENST00000370799.1_Missense_Mutation_p.N137S|PHF6_ENST00000394292.1_Missense_Mutation_p.N137S|PHF6_ENST00000370803.3_Missense_Mutation_p.N137S NM_032458.2 NP_115834.1 Q8IWS0 PHF6_HUMAN PHD finger protein 6 137 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1) 103 Acute lymphoblastic leukemia(192;0.000127) ACTGCACATAACTCCGAAGGT 0.294000 """F, N, Splice, Mis""" ETP ALL 4 70 0 0 1 0 0 WDR27 253769 broad.mit.edu 37 6 170052047 170052047 + Missense_Mutation SNP G G A TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chr6:170052047G>A ENST00000333572.6 - 14 1979 c.1460C>T c.(1459-1461)tCt>tTt p.S487F WDR27_ENST00000448612.1_Missense_Mutation_p.S487F|WDR27_ENST00000423258.1_Missense_Mutation_p.S360F|WDR27_ENST00000546525.1_5'UTR A2RRH5 WDR27_HUMAN WD repeat domain 27 457 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1) 12 Breast(66;1.53e-05)|Ovarian(120;0.216) OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168) CGCATAACCAGATGACCTAAC 0.428000 8 28 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 4 55 0 0 1 0 0 CLDN19 149461 broad.mit.edu 37 1 43204166 43204166 + Missense_Mutation SNP G G A TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chr1:43204166G>A ENST00000539749.1 - 2 504 c.314C>T c.(313-315)aCg>aTg p.T105M CLDN19_ENST00000296387.1_Missense_Mutation_p.T105M|CLDN19_ENST00000372539.3_Missense_Mutation_p.T105M NM_001185117.1 NP_001172046.1 Q8N6F1 CLD19_HUMAN claudin 19 105 calcium-independent cell-cell adhesion|response to stimulus|visual perception basolateral plasma membrane|integral to membrane|tight junction identical protein binding breast(2)|large_intestine(1)|lung(2)|skin(1) 6 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TCCCACCCGCGTACACTTCAT 0.637000 3 46 0 0 1 0 0 VAMP3 9341 broad.mit.edu 37 1 7838212 7838214 + In_Frame_Del DEL TCA TCA - TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chr1:7838212_7838214delTCA ENST00000054666.6 + 4 381_383 c.266_268delTCA c.(265-270)ttc>t p.FI89del VAMP3_ENST00000470357.1_In_Frame_Del_p.FI61del NM_004781.3 NP_004772.1 Q15836 VAMP3_HUMAN vesicle-associated membrane protein 3 89 cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3) 6 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642) CTGGTTATCTTCATCATCATCAT 0.365 8 270 --- --- --- --- AADACL3 126767 broad.mit.edu 37 1 12785492 12785493 + Frame_Shift_Ins INS - - T TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f 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 7 215 --- --- --- --- TCHH 7062 broad.mit.edu 37 1 152082957 152082959 + In_Frame_Del DEL CTC CTC - rs143222885 by1000genomes TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chr1:152082957_152082959delCTC ENST00000368804.1 - 2 2733_2735 c.2734_2736delGAG c.(2734-2736)del p.E912del NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 912 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTCTCTGTAGCTCCTCCTCCTCC 0.586 9 208 --- --- --- --- PROX1-AS1 0 broad.mit.edu 37 1 214090692 214090694 + RNA DEL TCC TCC - TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chr1:214090692_214090694delTCC ENST00000433082.2 - 0 195 PROX1-AS1_ENST00000413560.1_RNA|PROX1-AS1_ENST00000593620.1_RNA|PROX1-AS1_ENST00000600591.1_RNA|PROX1-AS1_ENST00000598105.1_RNA|PROX1-AS1_ENST00000601907.1_RNA|PROX1-AS1_ENST00000601854.1_RNA|PROX1-AS1_ENST00000601335.1_RNA|PROX1-AS1_ENST00000601744.1_RNA ctccttctgttcctcctcctcct 0.488 4 5 --- --- --- --- SIAH2 6478 broad.mit.edu 37 3 150480449 150480451 + In_Frame_Del DEL CCG CCG - TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chr3:150480449_150480451delCCG ENST00000312960.3 - 1 713_715 c.186_188delCGG c.(184-189)ggg>gg p.GG62del SIAH2_ENST00000472885.1_Intron NM_005067.5 NP_005058.3 O43255 SIAH2_HUMAN siah E3 ubiquitin protein ligase 2 62 apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process cytosol|nucleus transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1) 16 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) cgggccggccccgccgccgccgc 0.764 3 6 --- --- --- --- RP1-167F1.2 0 broad.mit.edu 37 6 19614330 19614359 + RNA DEL ATAAATATATATATATATATATATATATAT ATAAATATATATATATATATATATATATAT - rs139949355 TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chr6:19614330_19614359delATAAATATATATATATATATATATATATAT ENST00000432171.2 - 0 366 AGGTAGataaataaatatatatatatatatatatatatatatatatatat 0.326 3 3 --- --- --- --- ZNF292 23036 broad.mit.edu 37 6 87965029 87965030 + Frame_Shift_Del DEL AG AG - TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chr6:87965029_87965030delAG ENST00000369577.3 + 8 1725_1726 c.1682_1683delAG c.(1681-1683)cfs p.Q561fs ZNF292_ENST00000339907.4_Frame_Shift_Del_p.Q556fs NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 561 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) CGACATGCTCAGAAACATTACA 0.371 8 37 --- --- --- --- RP11-64D24.4 0 broad.mit.edu 37 11 114239196 114239197 + RNA INS - - C rs71301679 by1000genomes TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chr11:114239196_114239197insC ENST00000534904.2 - 0 304 acatggtgagaccccccccgcc 0.579 4 4 --- --- --- --- RP11-25I15.2 0 broad.mit.edu 37 12 43072603 43072603 + RNA DEL T T - TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chr12:43072603delT ENST00000548764.1 + 0 465 AGAACTCTGCttttttttttt 0.413 2 4 --- --- --- --- RP11-114H23.1 0 broad.mit.edu 37 12 76249904 76249906 + RNA DEL GGT GGT - rs72209423 TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chr12:76249904_76249906delGGT ENST00000552856.1 - 0 295 CTCCACATGAggtggtggtggtg 0.512 6 2 --- --- --- --- RP11-863P13.2 0 broad.mit.edu 37 16 88226895 88226897 + RNA DEL TGG TGG - rs62047004 TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3 fc524be3-8c05-4dda-ab66-c466d0c2d64f g.chr16:88226895_88226897delTGG ENST00000568587.1 - 0 91 gtggtggagatggtggtggtggg 0.537 4 7 --- --- --- ---