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 CIC 23152 broad.mit.edu 37 19 42792001 42792001 + Missense_Mutation SNP T T C TCGA-DH-A66F-01A-11D-A29Q-08 TCGA-DH-A66F-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56c484b6-1c09-4042-aee7-e4daa419fafe 15eb007e-8c8c-473a-b55e-cfa4b7786432 g.chr19:42792001T>C ENST00000572681.2 + 7 3600 c.3532T>C c.(3532-3534)Tgg>Cgg p.W1178R CIC_ENST00000160740.3_Missense_Mutation_p.W269R|CIC_ENST00000575354.2_Missense_Mutation_p.W269R Q96RK0 CIC_HUMAN capicua transcriptional repressor 269 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) AGATTGGAAGTGGTGCAACAA 0.632000 """Mis, F, S""" oligodendroglioma 6 4 0 0 1 0 0 HLA-A 3105 broad.mit.edu 37 6 29910693 29910693 + Missense_Mutation SNP A A G rs41559716 by1000genomes TCGA-DH-A66F-01A-11D-A29Q-08 TCGA-DH-A66F-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56c484b6-1c09-4042-aee7-e4daa419fafe 15eb007e-8c8c-473a-b55e-cfa4b7786432 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_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_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) 4 49 0 0 1 0 0 ARID1B 57492 broad.mit.edu 37 6 157495231 157495231 + Nonsense_Mutation SNP C C T TCGA-DH-A66F-01A-11D-A29Q-08 TCGA-DH-A66F-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56c484b6-1c09-4042-aee7-e4daa419fafe 15eb007e-8c8c-473a-b55e-cfa4b7786432 g.chr6:157495231C>T ENST00000346085.5 + 11 3116 c.3115C>T c.(3115-3117)Cag>Tag p.Q1039* ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Q968*|ARID1B_ENST00000478761.1_3'UTR|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q1026*|ARID1B_ENST00000350026.5_Nonsense_Mutation_p.Q1026* NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1026 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) AGGCACTCCACAGCCCGAGAG 0.522000 8 59 0 0 1 0 0 SYNJ1 8867 broad.mit.edu 37 21 34038343 34038343 + Silent SNP G G A TCGA-DH-A66F-01A-11D-A29Q-08 TCGA-DH-A66F-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56c484b6-1c09-4042-aee7-e4daa419fafe 15eb007e-8c8c-473a-b55e-cfa4b7786432 g.chr21:34038343G>A ENST00000382499.2 - 17 2171 c.2172C>T c.(2170-2172)ttC>ttT p.F724F SYNJ1_ENST00000322229.7_Silent_p.F685F|SYNJ1_ENST00000357345.3_Silent_p.F685F|SYNJ1_ENST00000433931.2_Silent_p.F724F|SYNJ1_ENST00000382491.3_Silent_p.F680F NM_203446.2 NP_982271.2 O43426 SYNJ1_HUMAN synaptojanin 1 685 Catalytic (Potential). inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 GGCTACAGACGAAGCAAAGGC 0.423000 11 21 0 0 1 0 0 KIR2DL1 3802 broad.mit.edu 37 19 55285048 55285048 + Missense_Mutation SNP T T A TCGA-DH-A66F-01A-11D-A29Q-08 TCGA-DH-A66F-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56c484b6-1c09-4042-aee7-e4daa419fafe 15eb007e-8c8c-473a-b55e-cfa4b7786432 g.chr19:55285048T>A ENST00000336077.6 + 3 374 c.334T>A c.(334-336)Tca>Aca p.S112T KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.S112T|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL3_ENST00000434419.2_Intron NM_014218.2 NP_055033.2 P43626 KI2L1_HUMAN killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 112 immune response|natural killer cell inhibitory signaling pathway integral to plasma membrane protein binding|receptor activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) CTATCAGGTGTCAGCTCCCAG 0.522000 86 113 0 0 1 0 0 COL15A1 1306 broad.mit.edu 37 9 101832036 101832036 + Silent SNP G G A TCGA-DH-A66F-01A-11D-A29Q-08 TCGA-DH-A66F-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56c484b6-1c09-4042-aee7-e4daa419fafe 15eb007e-8c8c-473a-b55e-cfa4b7786432 g.chr9:101832036G>A ENST00000375001.3 + 42 4458 c.4035G>A c.(4033-4035)gcG>gcA p.A1345A NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 1345 Nonhelical region 10 (NC10). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) GGCGAACCGCGGACACAGCGG 0.537000 70 119 0 0 1 0 0 DNMBP 23268 broad.mit.edu 37 10 101731881 101731881 + Translation_Start_Site SNP T T C TCGA-DH-A66F-01A-11D-A29Q-08 TCGA-DH-A66F-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56c484b6-1c09-4042-aee7-e4daa419fafe 15eb007e-8c8c-473a-b55e-cfa4b7786432 g.chr10:101731881T>C ENST00000342239.3 - 2 92 c.1A>G c.(1-3)Atg>Gtg p.M1V DNMBP_ENST00000324109.4_Start_Codon_SNP_p.M1V Q6XZF7 DNMBP_HUMAN dynamin binding protein 1 intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) CCAGCCTCCATGTTTTATAAC 0.388000 29 46 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593016 96593016 + Missense_Mutation SNP C C A rs79307257 by1000genomes TCGA-DH-A66F-01A-11D-A29Q-08 TCGA-DH-A66F-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56c484b6-1c09-4042-aee7-e4daa419fafe 15eb007e-8c8c-473a-b55e-cfa4b7786432 g.chr2:96593016C>A ENST00000456556.1 - 28 1969 c.1885G>T c.(1885-1887)Gat>Tat p.D629Y ankyrin repeat domain 36C p.D629Y(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 GAAACAGAATCTTTCTCATCA 0.318000 5 57 0.184627 0.184627 1 1 0 LRRC4 64101 broad.mit.edu 37 7 127670472 127670472 + Silent SNP G G A TCGA-DH-A66F-01A-11D-A29Q-08 TCGA-DH-A66F-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56c484b6-1c09-4042-aee7-e4daa419fafe 15eb007e-8c8c-473a-b55e-cfa4b7786432 g.chr7:127670472G>A ENST00000249363.3 - 2 479 c.222C>T c.(220-222)ccC>ccT p.P74P SND1_ENST00000354725.3_Intron NM_022143.4 NP_071426.1 Q9HBW1 LRRC4_HUMAN leucine rich repeat containing 4 74 LRRNT. cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2) 26 Lung(243;0.124) GGGTGTTCGAGGGAATACCCT 0.637000 4 150 0 0 1 0 0 TRPV2 51393 broad.mit.edu 37 17 16321163 16321163 + Nonsense_Mutation SNP C C T TCGA-DH-A66F-01A-11D-A29Q-08 TCGA-DH-A66F-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56c484b6-1c09-4042-aee7-e4daa419fafe 15eb007e-8c8c-473a-b55e-cfa4b7786432 g.chr17:16321163C>T ENST00000338560.7 + 2 580 c.181C>T c.(181-183)Cga>Tga p.R61* TRPV2_ENST00000577397.1_5'UTR NM_016113.4 NP_057197.2 Q9Y5S1 TRPV2_HUMAN transient receptor potential cation channel, subfamily V, member 2 61 Required for interaction with SLC50A1 (By similarity). sensory perception integral to plasma membrane|melanosome calcium channel activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3) 28 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) CCTCAACTACCGAAAGGGAAC 0.597000 13 43 0 0 1 0 0 PLEKHG6 55200 broad.mit.edu 37 12 6422805 6422805 + Missense_Mutation SNP G G A TCGA-DH-A66F-01A-11D-A29Q-08 TCGA-DH-A66F-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56c484b6-1c09-4042-aee7-e4daa419fafe 15eb007e-8c8c-473a-b55e-cfa4b7786432 g.chr12:6422805G>A ENST00000449001.2 + 2 547 c.53G>A c.(52-54)cGc>cAc p.R18H PLEKHG6_ENST00000011684.7_Missense_Mutation_p.R50H|PLEKHG6_ENST00000396988.3_Missense_Mutation_p.R50H|PLEKHG6_ENST00000536531.1_Missense_Mutation_p.R50H NM_001144857.1 NP_001138329.1 Q3KR16 PKHG6_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 6 50 regulation of Rho protein signal transduction cleavage furrow|cytoplasm|spindle pole GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4) 23 GATCCCAGTCGCCGACGCCTC 0.637000 40 82 0 0 1 0 0 CPED1 79974 broad.mit.edu 37 7 120629721 120629721 + Nonsense_Mutation SNP C C T TCGA-DH-A66F-01A-11D-A29Q-08 TCGA-DH-A66F-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56c484b6-1c09-4042-aee7-e4daa419fafe 15eb007e-8c8c-473a-b55e-cfa4b7786432 g.chr7:120629721C>T ENST00000310396.5 + 2 513 c.46C>T c.(46-48)Cga>Tga p.R16* CPED1_ENST00000495036.1_3'UTR|CPED1_ENST00000340646.5_Nonsense_Mutation_p.R16*|CPED1_ENST00000450913.2_Nonsense_Mutation_p.R16* NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 ATTTTGCCCCCGACCCTTCTT 0.597000 5 117 0 0 1 0 0 YME1L1 10730 broad.mit.edu 37 10 27420861 27420861 + Missense_Mutation SNP C C T TCGA-DH-A66F-01A-11D-A29Q-08 TCGA-DH-A66F-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56c484b6-1c09-4042-aee7-e4daa419fafe 15eb007e-8c8c-473a-b55e-cfa4b7786432 g.chr10:27420861C>T ENST00000326799.3 - 9 1104 c.956G>A c.(955-957)cGg>cAg p.R319Q YME1L1_ENST00000375972.3_Missense_Mutation_p.R229Q|YME1L1_ENST00000376016.3_Missense_Mutation_p.R262Q|YME1L1_ENST00000463270.1_5'UTR NM_139312.2 NP_647473.1 Q96TA2 YMEL1_HUMAN YME1-like 1 ATPase 319 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity p.R319L(1) breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 TGTTGTTGTCCGGAAGCGGAC 0.373000 20 45 0 0 1 0 0 FOXS1 2307 broad.mit.edu 37 20 30432674 30432674 + Silent SNP G G A TCGA-DH-A66F-01A-11D-A29Q-08 TCGA-DH-A66F-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56c484b6-1c09-4042-aee7-e4daa419fafe 15eb007e-8c8c-473a-b55e-cfa4b7786432 g.chr20:30432674G>A ENST00000375978.3 - 1 746 c.672C>T c.(670-672)ttC>ttT p.F224F NM_004118.3 NP_004109.1 O43638 FOXS1_HUMAN forkhead box S1 224 anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1) 9 CAGCCTCTGAGAAGCCGGCAG 0.587000 6 85 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3832889 3832889 + Missense_Mutation SNP T T C TCGA-DH-A66F-01A-11D-A29Q-08 TCGA-DH-A66F-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56c484b6-1c09-4042-aee7-e4daa419fafe 15eb007e-8c8c-473a-b55e-cfa4b7786432 g.chr16:3832889T>C ENST00000262367.5 - 6 2178 c.1369A>G c.(1369-1371)Att>Gtt p.I457V CREBBP_ENST00000382070.3_Missense_Mutation_p.I419V NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 457 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) ACAGAACCAATTGTGTTTTGA 0.488000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 4 68 0 0 1 0 0 ITIH3 3699 broad.mit.edu 37 3 52840399 52840399 + Missense_Mutation SNP G G A TCGA-DH-A66F-01A-11D-A29Q-08 TCGA-DH-A66F-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56c484b6-1c09-4042-aee7-e4daa419fafe 15eb007e-8c8c-473a-b55e-cfa4b7786432 g.chr3:52840399G>A ENST00000449956.2 + 18 2039 c.2033G>A c.(2032-2034)cGc>cAc p.R678H ITIH3_ENST00000416872.2_Intron NM_002217.3 NP_002208.3 Q06033 ITIH3_HUMAN inter-alpha-trypsin inhibitor heavy chain 3 678 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity p.R678H(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) ACAGTGCTGCGCCTTATTCAG 0.612000 13 39 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DH-A66F-01A-11D-A29Q-08 TCGA-DH-A66F-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56c484b6-1c09-4042-aee7-e4daa419fafe 15eb007e-8c8c-473a-b55e-cfa4b7786432 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 20 31 0 0 1 0 0 GRIA1 0 broad.mit.edu 37 5 153190685 153190685 + Missense_Mutation SNP A A G TCGA-DH-A66F-01A-11D-A29Q-08 TCGA-DH-A66F-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56c484b6-1c09-4042-aee7-e4daa419fafe 15eb007e-8c8c-473a-b55e-cfa4b7786432 g.chr5:153190685A>G ENST00000285900.5 + 16 2964 c.2621A>G c.(2620-2622)gAg>gGg p.E874G GRIA1_ENST00000518142.1_Missense_Mutation_p.E794G|GRIA1_ENST00000518783.1_Missense_Mutation_p.E884G|GRIA1_ENST00000521843.2_Missense_Mutation_p.E805G|GRIA1_ENST00000340592.5_Missense_Mutation_p.E874G|GRIA1_ENST00000448073.4_Missense_Mutation_p.E884G NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 874 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GGCAGTGGAGAGAATGGTCGG 0.577000 4 110 0 0 1 0 0 TPTE2P6 0 broad.mit.edu 37 13 25161397 25161397 + RNA SNP C C G rs3874227 by1000genomes TCGA-DH-A66F-01A-11D-A29Q-08 TCGA-DH-A66F-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56c484b6-1c09-4042-aee7-e4daa419fafe 15eb007e-8c8c-473a-b55e-cfa4b7786432 g.chr13:25161397C>G ENST00000453498.1 + 0 921 TGAAACATCTCTACAACTGGA 0.343000 6 35 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028425 37028425 + Missense_Mutation SNP A A G rs145580328 byFrequency TCGA-DH-A66F-01A-11D-A29Q-08 TCGA-DH-A66F-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56c484b6-1c09-4042-aee7-e4daa419fafe 15eb007e-8c8c-473a-b55e-cfa4b7786432 g.chrX:37028425A>G ENST00000358047.3 + 1 1994 c.1942A>G c.(1942-1944)Aat>Gat p.N648D NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 648 p.N648D(7) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GGAGCCTCCCAATACTGGAGT 0.642000 6 101 0 0 1 0 0 UNC13D 201294 broad.mit.edu 37 17 73832286 73832286 + Missense_Mutation SNP C C T TCGA-DH-A66F-01A-11D-A29Q-08 TCGA-DH-A66F-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56c484b6-1c09-4042-aee7-e4daa419fafe 15eb007e-8c8c-473a-b55e-cfa4b7786432 g.chr17:73832286C>T ENST00000207549.4 - 16 1820 c.1441G>A c.(1441-1443)Gtg>Atg p.V481M UNC13D_ENST00000412096.2_Missense_Mutation_p.V481M NM_199242.2 NP_954712.1 Q70J99 UN13D_HUMAN unc-13 homolog D (C. elegans) 481 Interaction with RAB27A. positive regulation of exocytosis|regulation of mast cell degranulation exocytic vesicle|late endosome|lysosome|membrane|recycling endosome protein binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) CTCACCTGCACCATGGGTTGA 0.667000 Familial Hemophagocytic Lymphohistiocytosis 5 27 0 0 1 0 0 HPS5 11234 broad.mit.edu 37 11 18339305 18339305 + Missense_Mutation SNP C C T TCGA-DH-A66F-01A-11D-A29Q-08 TCGA-DH-A66F-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56c484b6-1c09-4042-aee7-e4daa419fafe 15eb007e-8c8c-473a-b55e-cfa4b7786432 g.chr11:18339305C>T ENST00000349215.3 - 2 378 c.101G>A c.(100-102)cGt>cAt p.R34H HPS5_ENST00000396253.3_Intron|HPS5_ENST00000531848.1_Intron|HPS5_ENST00000438420.2_Intron NM_181507.1 NP_852608.1 Q9UPZ3 HPS5_HUMAN Hermansky-Pudlak syndrome 5 34 cytosol breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 CACCTTTAGACGACTGGAGTC 0.463000 Hermansky-Pudlak syndrome 8 12 0 0 1 0 0 UNC13A 23025 broad.mit.edu 37 19 17752214 17752214 + Missense_Mutation SNP T T C TCGA-DH-A66F-01A-11D-A29Q-08 TCGA-DH-A66F-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56c484b6-1c09-4042-aee7-e4daa419fafe 15eb007e-8c8c-473a-b55e-cfa4b7786432 g.chr19:17752214T>C ENST00000428389.2 - 22 2887 c.2888A>G c.(2887-2889)tAc>tGc p.Y963C UNC13A_ENST00000550896.1_Missense_Mutation_p.Y873C|UNC13A_ENST00000552293.1_Missense_Mutation_p.Y875C|UNC13A_ENST00000551649.1_Missense_Mutation_p.Y875C|UNC13A_ENST00000519716.2_Missense_Mutation_p.Y875C|UNC13A_ENST00000252773.7_Missense_Mutation_p.Y875C Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 875 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 CATGGCTTGGTAGATGGACTC 0.592000 24 40 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159653415 159653415 + Missense_Mutation SNP C C T TCGA-DH-A66F-01A-11D-A29Q-08 TCGA-DH-A66F-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56c484b6-1c09-4042-aee7-e4daa419fafe 15eb007e-8c8c-473a-b55e-cfa4b7786432 g.chr6:159653415C>T ENST00000297267.9 + 11 2071 c.1871C>T c.(1870-1872)gCg>gTg p.A624V FNDC1_ENST00000340366.6_Missense_Mutation_p.A561V NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 624 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) GCCCACCACGCGTCCACCCAG 0.667000 5 80 0 0 1 0 0 SLC6A2 6530 broad.mit.edu 37 16 55735794 55735794 + Missense_Mutation SNP C C T TCGA-DH-A66F-01A-11D-A29Q-08 TCGA-DH-A66F-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56c484b6-1c09-4042-aee7-e4daa419fafe 15eb007e-8c8c-473a-b55e-cfa4b7786432 g.chr16:55735794C>T ENST00000379906.2 + 13 2033 c.1778C>T c.(1777-1779)aCg>aTg p.T593M SLC6A2_ENST00000567238.1_Missense_Mutation_p.T488M|SLC6A2_ENST00000568943.1_Missense_Mutation_p.T593M|SLC6A2_ENST00000219833.8_Missense_Mutation_p.T593M|SLC6A2_ENST00000566163.1_Missense_Mutation_p.T548M|SLC6A2_ENST00000414754.3_Missense_Mutation_p.T537M|SLC6A2_ENST00000561820.1_Intron NM_001043.3 NP_001034.1 P23975 SC6A2_HUMAN solute carrier family 6 (neurotransmitter transporter), member 2 593 synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) TATGGCATCACGCCAGAGAAC 0.622000 OREG0023807 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 82 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + Missense_Mutation SNP A A G rs111976783 TCGA-DH-A66F-01A-11D-A29Q-08 TCGA-DH-A66F-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56c484b6-1c09-4042-aee7-e4daa419fafe 15eb007e-8c8c-473a-b55e-cfa4b7786432 g.chr2:96593000A>G ENST00000456556.1 - 28 1985 c.1901T>C c.(1900-1902)aTa>aCa p.I634T ankyrin repeat domain 36C p.I634T(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTCTGTGGCTATATTTGAAAC 0.338000 5 54 0 0 1 0 0 SLC23A1 9963 broad.mit.edu 37 5 138713162 138713162 + Missense_Mutation SNP A A G TCGA-DH-A66F-01A-11D-A29Q-08 TCGA-DH-A66F-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56c484b6-1c09-4042-aee7-e4daa419fafe 15eb007e-8c8c-473a-b55e-cfa4b7786432 g.chr5:138713162A>G ENST00000353963.3 - 13 1528 c.1490T>C c.(1489-1491)cTg>cCg p.L497P SLC23A1_ENST00000348729.3_Missense_Mutation_p.L493P NM_152685.3 NP_689898.2 Q9UHI7 S23A1_HUMAN solute carrier family 23 (ascorbic acid transporter), member 1 493 brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1) 19 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) Vitamin C(DB00126) CAGCACAATCAGAATCTGATC 0.527000 22 26 0 0 1 0 0 LARS 51520 broad.mit.edu 37 5 145512473 145512473 + Missense_Mutation SNP C C T TCGA-DH-A66F-01A-11D-A29Q-08 TCGA-DH-A66F-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56c484b6-1c09-4042-aee7-e4daa419fafe 15eb007e-8c8c-473a-b55e-cfa4b7786432 g.chr5:145512473C>T ENST00000394434.2 - 23 2550 c.2384G>A c.(2383-2385)aGa>aAa p.R795K LARS_ENST00000274562.9_Missense_Mutation_p.R768K|LARS_ENST00000545646.1_Missense_Mutation_p.R749K|LARS_ENST00000510191.1_Missense_Mutation_p.R741K NM_020117.9 NP_064502.9 Q9P2J5 SYLC_HUMAN leucyl-tRNA synthetase 795 leucyl-tRNA aminoacylation cytosol ATP binding|leucine-tRNA ligase activity|protein binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8) 34 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Leucine(DB00149) GGCAAAAACTCTATCATTGAA 0.403000 4 92 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593025 96593025 + Missense_Mutation SNP C C T rs75189823 by1000genomes TCGA-DH-A66F-01A-11D-A29Q-08 TCGA-DH-A66F-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56c484b6-1c09-4042-aee7-e4daa419fafe 15eb007e-8c8c-473a-b55e-cfa4b7786432 g.chr2:96593025C>T ENST00000456556.1 - 28 1960 c.1876G>A c.(1876-1878)Gat>Aat p.D626N ankyrin repeat domain 36C p.D626N(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TCTTTCTCATCACTTGTAGCC 0.318000 5 55 0 0 1 0 0 ZNF335 63925 broad.mit.edu 37 20 44578967 44578967 + Missense_Mutation SNP G G C TCGA-DH-A66F-01A-11D-A29Q-08 TCGA-DH-A66F-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56c484b6-1c09-4042-aee7-e4daa419fafe 15eb007e-8c8c-473a-b55e-cfa4b7786432 g.chr20:44578967G>C ENST00000322927.2 - 22 3478 c.3378C>G c.(3376-3378)caC>caG p.H1126Q ZNF335_ENST00000426788.1_Missense_Mutation_p.H971Q NM_022095.3 NP_071378.1 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 1126 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) CATCAGGACTGTGCAGCCGCT 0.582000 55 73 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186277366 186277366 + Missense_Mutation SNP C C G TCGA-DH-A66F-01A-11D-A29Q-08 TCGA-DH-A66F-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56c484b6-1c09-4042-aee7-e4daa419fafe 15eb007e-8c8c-473a-b55e-cfa4b7786432 g.chr1:186277366C>G ENST00000445192.2 + 7 2560 c.2515C>G c.(2515-2517)Ccc>Gcc p.P839A PRG4_ENST00000367483.4_Missense_Mutation_p.P798A|PRG4_ENST00000367484.3_Missense_Mutation_p.P368A|PRG4_ENST00000367486.3_Missense_Mutation_p.P796A|PRG4_ENST00000367485.4_Missense_Mutation_p.P746A NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 839 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 ACCCACTACCCCCAAGAAGCC 0.562000 8 501 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-DH-A66F-01A-11D-A29Q-08 TCGA-DH-A66F-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56c484b6-1c09-4042-aee7-e4daa419fafe 15eb007e-8c8c-473a-b55e-cfa4b7786432 g.chr20:29628300G>A ENST00000278882.3 + 6 682 c.302G>A c.(301-303)aGt>aAt p.S101N FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAGCAAAAAGTAAAACAGCA 0.358000 4 102 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16952362 16952362 + RNA DEL G G - TCGA-DH-A66F-01A-11D-A29Q-08 TCGA-DH-A66F-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56c484b6-1c09-4042-aee7-e4daa419fafe 15eb007e-8c8c-473a-b55e-cfa4b7786432 g.chr1:16952362delG ENST00000412962.1 - 0 907 GCCACTCATAGGGAGCCCTCC 0.677 2 4 --- --- --- --- ASCC1 51008 broad.mit.edu 37 10 73970535 73970535 + Frame_Shift_Del DEL G G - TCGA-DH-A66F-01A-11D-A29Q-08 TCGA-DH-A66F-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56c484b6-1c09-4042-aee7-e4daa419fafe 15eb007e-8c8c-473a-b55e-cfa4b7786432 g.chr10:73970535delG ENST00000342444.4 - 3 268 c.167delC c.(166-168)cafs p.P56fs ASCC1_ENST00000317126.4_Frame_Shift_Del_p.P56fs|ASCC1_ENST00000545550.1_Frame_Shift_Del_p.P78fs|ASCC1_ENST00000492502.2_5'UTR|ASCC1_ENST00000394919.1_Frame_Shift_Del_p.P56fs|ASCC1_ENST00000317168.6_Frame_Shift_Del_p.P56fs|ASCC1_ENST00000394915.3_Frame_Shift_Del_p.P56fs NM_001198799.2 NP_001185728.1 Q8N9N2 ASCC1_HUMAN activating signal cointegrator 1 complex subunit 1 56 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex RNA binding endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1) 7 GAATCCTTGTGGGGTCTGCTC 0.527 18 46 --- --- --- --- FXR2 9513 broad.mit.edu 37 17 7517826 7517826 + Frame_Shift_Del DEL C C - TCGA-DH-A66F-01A-11D-A29Q-08 TCGA-DH-A66F-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56c484b6-1c09-4042-aee7-e4daa419fafe 15eb007e-8c8c-473a-b55e-cfa4b7786432 g.chr17:7517826delC ENST00000250113.7 - 1 359 c.25delG c.(25-27)atfs p.D9fs SHBG_ENST00000574539.1_Intron|SHBG_ENST00000575314.1_Intron|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000576728.1_Intron|SHBG_ENST00000572262.1_Intron|SHBG_ENST00000576478.1_Intron NM_004860.3 NP_004851.2 P51116 FXR2_HUMAN fragile X mental retardation, autosomal homolog 2 9 cytosolic large ribosomal subunit protein binding|RNA binding p.D9fs*27(1)|p.?(1) NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1) 26 READ - Rectum adenocarcinoma(115;0.17) GGCTCCACATCCCCCCCAGAG 0.766 2 4 --- --- --- --- RP11-258C19.5 0 broad.mit.edu 37 X 53142508 53142509 + RNA INS - - A rs145002653 by1000genomes TCGA-DH-A66F-01A-11D-A29Q-08 TCGA-DH-A66F-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56c484b6-1c09-4042-aee7-e4daa419fafe 15eb007e-8c8c-473a-b55e-cfa4b7786432 g.chrX:53142508_53142509insA ENST00000604849.1 + 0 96 AACACACACACAAAAAAAAACC 0.356 4 4 --- --- --- ---