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 MROH2B 133558 broad.mit.edu 37 5 41012689 41012689 + Missense_Mutation SNP T T C TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chr5:41012689T>C ENST00000399564.4 - 30 3581 c.3131A>G c.(3130-3132)gAt>gGt p.D1044G MROH2B_ENST00000506092.2_Missense_Mutation_p.D599G NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B GTTCACCTGATCTTCCAGAGC 0.488000 30 44 0 0 0.041601 0 0 KCNB2 9312 broad.mit.edu 37 8 73849587 73849587 + Missense_Mutation SNP C C T TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chr8:73849587C>T ENST00000523207.1 + 3 2585 c.1997C>T c.(1996-1998)aCg>aTg p.T666M NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 666 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) AGGGATGGCACGCTGGAGTAT 0.562000 34 45 0 0 0.012213 0 0 RP11-69H14.6 0 broad.mit.edu 37 15 22332530 22332530 + RNA SNP G G T TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chr15:22332530G>T ENST00000558896.1 + 0 337 ATTGTCCTGGGAAACCTCTTG 0.393000 60 238 2.69953e-25 3.62306e-25 0.014410 1 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22662995 22662995 + RNA SNP C C T rs79792109 by1000genomes TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chr22:22662995C>T ENST00000426066.1 + 0 500 NR_027293.1 TTTATTGTGTCACATAGAATT 0.348000 3 26 0 0 0.009096 0 0 SLC4A7 9497 broad.mit.edu 37 3 27444777 27444777 + Missense_Mutation SNP A A G TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chr3:27444777A>G ENST00000295736.5 - 15 2217 c.2147T>C c.(2146-2148)gTg>gCg p.V716A SLC4A7_ENST00000446700.1_Missense_Mutation_p.V708A|SLC4A7_ENST00000437179.1_Missense_Mutation_p.V597A|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000454389.1_Missense_Mutation_p.V725A|SLC4A7_ENST00000388777.4_Missense_Mutation_p.V266A|SLC4A7_ENST00000455077.1_Missense_Mutation_p.V597A|SLC4A7_ENST00000440156.1_Missense_Mutation_p.V712A|SLC4A7_ENST00000435667.2_Missense_Mutation_p.V601A|SLC4A7_ENST00000445684.1_Missense_Mutation_p.V712A|SLC4A7_ENST00000428386.1_Missense_Mutation_p.V592A NM_003615.4 NP_003606.3 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 7 716 apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1) 38 AATATAACACACAAGGCTGCT 0.378000 67 77 0 0 0.014410 0 0 ALDH1B1 219 broad.mit.edu 37 9 38396046 38396046 + Missense_Mutation SNP C C T TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chr9:38396046C>T ENST00000377698.3 + 2 454 c.301C>T c.(301-303)Cgg>Tgg p.R101W NM_000692.4 NP_000683.3 P30837 AL1B1_HUMAN aldehyde dehydrogenase 1 family, member B1 101 carbohydrate metabolic process mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115) NADH(DB00157) TGCCTCTGAGCGGGGCCGGCT 0.647000 47 86 0 0 0.014410 0 0 SRSF3 6428 broad.mit.edu 37 6 36569524 36569524 + Silent SNP T T C TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chr6:36569524T>C ENST00000373715.6 + 5 536 c.420T>C c.(418-420)tcT>tcC p.S140S NM_003017.4 NP_003008.1 P84103 SRSF3_HUMAN serine/arginine-rich splicing factor 3 140 2 X approximate repeats, basic.|Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2) 7 GATCGCTGTCTCGGGAGAGAA 0.373000 6 192 0 0 0.038147 0 0 OR10J3 441911 broad.mit.edu 37 1 159284385 159284385 + Missense_Mutation SNP C C T TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chr1:159284385C>T ENST00000332217.5 - 1 64 c.65G>A c.(64-66)cGg>cAg p.R22Q NM_001004467.1 NP_001004467.1 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, member 3 22 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R22Q(1)|p.R22L(1) breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) TTTGTGCTGCCGCCTGAAGCT 0.453000 104 168 0 0 0.014410 0 0 ITIH2 3698 broad.mit.edu 37 10 7786812 7786812 + Missense_Mutation SNP T T C TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chr10:7786812T>C ENST00000358415.4 + 19 2633 c.2467T>C c.(2467-2469)Tcc>Ccc p.S823P ITIH2_ENST00000379587.4_Missense_Mutation_p.S812P NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 823 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 TAAAGAGATGTCCTTTTCTGT 0.418000 23 48 0 0 0.012319 0 0 MYOCD 93649 broad.mit.edu 37 17 12666629 12666629 + Missense_Mutation SNP G G A TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chr17:12666629G>A ENST00000425538.1 + 14 2829 c.2629G>A c.(2629-2631)Ggg>Agg p.G877R MYOCD_ENST00000343344.4_Missense_Mutation_p.G829R|RP11-1090M7.1_ENST00000584772.1_RNA NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 829 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) TCTAAAAATTGGGAGCGAAGA 0.483000 13 107 0 0 0.016723 0 0 FMOD 2331 broad.mit.edu 37 1 203316483 203316483 + Missense_Mutation SNP G G C TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chr1:203316483G>C ENST00000354955.4 - 2 1379 c.916C>G c.(916-918)Cag>Gag p.Q306E FMOD_ENST00000464898.1_5'UTR NM_002023.4 NP_002014.2 Q06828 FMOD_HUMAN fibromodulin 306 transforming growth factor beta receptor complex assembly extracellular space|proteinaceous extracellular matrix breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 17 BRCA - Breast invasive adenocarcinoma(75;0.171) GGGATCTTCTGCAGCTGGTTG 0.557000 5 158 0 0 0.014758 0 0 CTSC 1075 broad.mit.edu 37 11 88042410 88042410 + Missense_Mutation SNP T T C TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chr11:88042410T>C ENST00000227266.5 - 4 676 c.562A>G c.(562-564)Act>Gct p.T188A NM_001814.4 NP_001805.3 P53634 CATC_HUMAN cathepsin C 188 immune response lysosome cysteine-type endopeptidase activity large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2) 22 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) ATGTATGTAGTTGCAGTCCAA 0.388000 33 47 0 0 0.017118 0 0 BICD1 636 broad.mit.edu 37 12 32480873 32480873 + Missense_Mutation SNP A A G rs116296656 by1000genomes TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chr12:32480873A>G ENST00000548411.1 + 5 1665 c.1484A>G c.(1483-1485)aAc>aGc p.N495S BICD1_ENST00000281474.5_Missense_Mutation_p.N495S NM_001003398.1 NP_001003398.1 Q96G01 BICD1_HUMAN bicaudal D homolog 1 (Drosophila) 495 anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) AGCATAGCCAACGAAAATCAC 0.458000 29 57 0 0 0.027356 0 0 LBP 3929 broad.mit.edu 37 20 36983811 36983811 + Splice_Site SNP T T A TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chr20:36983811T>A ENST00000217407.2 + 5 749 c.e5+2 NM_004139.3 NP_004130.2 P18428 LBP_HUMAN lipopolysaccharide binding protein acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway extracellular space Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1) 28 Myeloproliferative disorder(115;0.00878) GAGAGCAGGGTAAGAAGGTCC 0.572000 8 35 0 0 0.038147 0 0 DCST2 127579 broad.mit.edu 37 1 155005617 155005617 + Missense_Mutation SNP A A C TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chr1:155005617A>C ENST00000368424.3 - 2 450 c.392T>G c.(391-393)cTg>cGg p.L131R DCST2_ENST00000295536.5_Missense_Mutation_p.L131R NM_144622.2 NP_653223.2 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 131 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1) 38 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GGTCTGGTTCAGGGCCAGCTC 0.632000 9 14 0 0 0.004482 0 0 LPAR5 57121 broad.mit.edu 37 12 6729924 6729924 + Missense_Mutation SNP C C T TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chr12:6729924C>T ENST00000329858.4 - 2 1247 c.491G>A c.(490-492)cGt>cAt p.R164H LPAR5_ENST00000431922.1_Missense_Mutation_p.R164H|LPAR5_ENST00000540335.1_5'UTR NM_020400.5 NP_065133.1 Q9H1C0 LPAR5_HUMAN lysophosphatidic acid receptor 5 164 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2) 7 GTAGCGGCAACGCGAGGGCCT 0.726000 4 9 0 0 0.014758 0 0 SDHAP1 0 broad.mit.edu 37 3 195698264 195698264 + RNA SNP T T C rs12485654 by1000genomes TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chr3:195698264T>C ENST00000427841.1 - 0 1608 NR_003264.2 TTTGTCAACATTCGTGACAGA 0.413000 3 47 0 0 0.009096 0 0 KIF9 64147 broad.mit.edu 37 3 47284702 47284702 + Silent SNP A A G TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chr3:47284702A>G ENST00000335044.2 - 16 1905 c.1548T>C c.(1546-1548)ccT>ccC p.P516P KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000352910.4_Intron|KIF9_ENST00000265529.3_Silent_p.P516P|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000452770.2_Silent_p.P516P|KIF9_ENST00000444589.2_Intron NM_001134878.1|NM_182902.3 NP_001128350.1|NP_878905.2 Q9HAQ2 KIF9_HUMAN kinesin family member 9 516 blood coagulation|microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2) 34 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) TCCCATTCACAGGGCTGCTGG 0.552000 3 41 0 0 0.004672 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 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 31 43 0 0 0.017118 0 0 WNK1 65125 broad.mit.edu 37 12 999632 999632 + Missense_Mutation SNP C C T TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chr12:999632C>T ENST00000537687.1 + 22 6885 c.6242C>T c.(6241-6243)gCg>gTg p.A2081V WNK1_ENST00000340908.4_Missense_Mutation_p.A1414V|WNK1_ENST00000535572.1_Missense_Mutation_p.A1574V|WNK1_ENST00000530271.2_Missense_Mutation_p.A2319V|WNK1_ENST00000315939.6_Missense_Mutation_p.A1821V NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1821 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) GTGTCCATGGCGGCTCCAACA 0.463000 4 79 0 0 0.021553 0 0 CENPJ 55835 broad.mit.edu 37 13 25486836 25486836 + Missense_Mutation SNP C C T TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chr13:25486836C>T ENST00000381884.4 - 2 513 c.328G>A c.(328-330)Gca>Aca p.A110T CENPJ_ENST00000545981.1_Missense_Mutation_p.A110T NM_018451.4 NP_060921.3 Q9HC77 CENPJ_HUMAN centromere protein J 110 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) CTGTGACATGCCGCTACCTGT 0.433000 4 133 0 0 0.009096 0 0 FPGT-TNNI3K 0 broad.mit.edu 37 1 74801804 74801804 + Missense_Mutation SNP T T C TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chr1:74801804T>C ENST00000370895.1 + 9 991 c.956T>C c.(955-957)cTc>cCc p.L319P TNNI3K_ENST00000370891.2_Missense_Mutation_p.L319P|TNNI3K_ENST00000326637.3_Missense_Mutation_p.L218P|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.L319P|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.L319P Q59H18 TNI3K_HUMAN 218 cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding ATTGCAAAACTCTTGATGGAA 0.353000 22 43 0 0 0.012319 0 0 COG3 83548 broad.mit.edu 37 13 46092961 46092961 + Silent SNP T T C TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chr13:46092961T>C ENST00000349995.5 + 18 2107 c.1995T>C c.(1993-1995)aaT>aaC p.N665N NM_031431.3 NP_113619.2 Q96JB2 COG3_HUMAN component of oligomeric golgi complex 3 665 ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER cis-Golgi network|Golgi cisterna membrane|Golgi transport complex protein binding|protein transporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1) 24 Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000124) ATAGCAACAATGCCTTGATAG 0.393000 27 76 0 0 0.034045 0 0 FLG 2312 broad.mit.edu 37 1 152280725 152280725 + Missense_Mutation SNP C C G TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chr1:152280725C>G ENST00000368799.1 - 3 6672 c.6637G>C c.(6637-6639)Gct>Cct p.A2213P FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2213 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CAAGAGGAAGCTTCATGATGA 0.562000 Ichthyosis 10 537 0 0 0.006214 0 0 AKNAD1 254268 broad.mit.edu 37 1 109380254 109380254 + Missense_Mutation SNP T T C TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chr1:109380254T>C ENST00000370001.3 - 7 1722 c.1454A>G c.(1453-1455)tAt>tGt p.Y485C AKNAD1_ENST00000369995.3_Missense_Mutation_p.Y485C|AKNAD1_ENST00000369994.1_Missense_Mutation_p.Y485C|AKNAD1_ENST00000357393.4_Missense_Mutation_p.Y192C NM_152763.4 NP_689976.2 Q5T1N1 AKND1_HUMAN AKNA domain containing 1 485 breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2) 32 AGCTGAAGTATATTTGCTTTC 0.403000 12 98 0 0 0.010729 0 0 TP53 7157 broad.mit.edu 37 17 7577129 7577129 + Missense_Mutation SNP A A G TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chr17:7577129A>G ENST00000420246.2 - 8 941 c.809T>C c.(808-810)tTt>tCt p.F270S TP53_ENST00000455263.2_Missense_Mutation_p.F270S|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.F270S|TP53_ENST00000359597.4_Missense_Mutation_p.F270S|TP53_ENST00000269305.4_Missense_Mutation_p.F270S NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 270 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). F -> C (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.F270C(15)|p.0?(8)|p.F270S(8)|p.F270Y(5)|p.?(2)|p.G266_E271delGRNSFE(2)|p.G262_F270delGNLLGRNSF(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.S269fs*34(1)|p.F270_D281del12(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ACGCACCTCAAAGCTGTTCCG 0.537000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 19 6 0 0 0.043863 0 0 DNAH1 25981 broad.mit.edu 37 3 52416412 52416412 + Missense_Mutation SNP G G A TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chr3:52416412G>A ENST00000420323.2 + 50 8143 c.7882G>A c.(7882-7884)Gtc>Atc p.V2628I NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 2628 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TGTGAAGAAGGTCCTGCTCAA 0.582000 86 124 0 0 0.014410 0 0 DNAH5 1767 broad.mit.edu 37 5 13751313 13751313 + Silent SNP G G T TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chr5:13751313G>T ENST00000265104.4 - 65 11189 c.11085C>A c.(11083-11085)acC>acA p.T3695T NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3695 AAA 5 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GCAATTTGGTGGTAATGTAGA 0.383000 Kartagener syndrome 5 88 0.00198382 0.00252937 0.029380 1 0 VCL 7414 broad.mit.edu 37 10 75834513 75834513 + Missense_Mutation SNP T T G TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chr10:75834513T>G ENST00000211998.4 + 6 729 c.635T>G c.(634-636)tTt>tGt p.F212C VCL_ENST00000417648.2_Intron|VCL_ENST00000372755.3_Missense_Mutation_p.F212C|VCL_ENST00000478896.2_Intron NM_014000.2 NP_054706.1 P18206 VINC_HUMAN vinculin 212 N-terminal globular head. adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface costamere|cytosol|extracellular region|focal adhesion actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity VCL/ALK(4) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 20 Prostate(51;0.0112) ATGAAGATTTTTGTAACAACT 0.269000 7 142 0 0 0.008291 0 0 CACNA2D4 93589 broad.mit.edu 37 12 1992145 1992145 + Missense_Mutation SNP G G A TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chr12:1992145G>A ENST00000382722.5 - 13 1735 c.1373C>T c.(1372-1374)aCg>aTg p.T458M CACNA2D4_ENST00000585708.1_Missense_Mutation_p.T394M|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.T458M|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.T458M|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.T394M|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.T343M NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 458 VWFA. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity p.T458M(1) endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) GTCCGCCAGCGTTGAGATCTG 0.642000 11 20 0 0 0.013537 0 0 ADCY2 108 broad.mit.edu 37 5 7520914 7520914 + Missense_Mutation SNP G G A TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chr5:7520914G>A ENST00000338316.4 + 3 561 c.472G>A c.(472-474)Gcc>Acc p.A158T NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 158 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding p.A158T(1) NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 CATGCGAGACGCCATCATTGC 0.547000 50 58 0 0 0.014410 0 0 KBTBD8 84541 broad.mit.edu 37 3 67054104 67054104 + Missense_Mutation SNP A A G TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chr3:67054104A>G ENST00000295568.4 + 3 766 c.635A>G c.(634-636)aAa>aGa p.K212R KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000417314.2_Missense_Mutation_p.K238R|KBTBD8_ENST00000469661.1_3'UTR NM_032505.2 NP_115894.2 Q8NFY9 KBTB8_HUMAN kelch repeat and BTB (POZ) domain containing 8 238 BACK. breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1) 20 Lung NSC(201;0.0765) BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125) ATTTTTGCTAAATGCATACGT 0.388000 23 47 0 0 0.014323 0 0 NBPF1 55672 broad.mit.edu 37 1 16918422 16918424 + In_Frame_Del DEL TTG TTG - rs9730077 by1000genomes TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chr1:16918422_16918424delTTG ENST00000430580.2 - 7 980_982 c.93_95delCAA c.(91-96)aaa>aa p.NK31del NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 31 N -> K (in dbSNP:rs9730077). cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) GAACTGCTGTTTGTTCTCTGCCA 0.488 15 1124 --- --- --- --- HNRNPR 10236 broad.mit.edu 37 1 23665036 23665038 + In_Frame_Del DEL CTT CTT - TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chr1:23665036_23665038delCTT ENST00000374612.1 - 3 344_346 c.221_223delAAG c.(220-225)gga>g p.EG74del HNRNPR_ENST00000606561.1_5'UTR|HNRNPR_ENST00000427764.2_In_Frame_Del_p.EG74del|HNRNPR_ENST00000374616.3_In_Frame_Del_p.EG74del|HNRNPR_ENST00000426846.2_5'UTR|HNRNPR_ENST00000302271.6_In_Frame_Del_p.EG74del|HNRNPR_ENST00000478691.1_5'UTR NM_001102398.1|NM_005826.3 NP_001095868.1|NP_005817.1 O43390 HNRPR_HUMAN heterogeneous nuclear ribonucleoprotein R 74 Asp/Glu-rich (acidic). catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19) GACAGAGCTCCTTCTTCATTAAA 0.365 12 85 --- --- --- --- NBPF10 100132406 broad.mit.edu 37 1 145299852 145299854 + In_Frame_Del DEL GAG GAG - TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chr1:145299852_145299854delGAG ENST00000342960.5 + 6 936_938 c.901_903delGAG c.(901-903)del p.E301del RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_In_Frame_Del_p.E30del NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 301 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) CCAGCTGGCAGAGAAGAAACAGC 0.468 8 856 --- --- --- --- AC016995.3 0 broad.mit.edu 37 2 38710012 38710013 + RNA INS - - A rs71402229 TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chr2:38710012_38710013insA ENST00000417039.1 - 0 696 CTTACTTCTTtaaaaaataaat 0.252 4 8 --- --- --- --- RP11-3P17.4 0 broad.mit.edu 37 3 161146872 161146873 + RNA DEL AT AT - TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chr3:161146872_161146873delAT ENST00000473595.1 + 0 1231 NR_102265.1 TGGTGAAAAGATATATATATAT 0.342 2 4 --- --- --- --- NAP1L5 266812 broad.mit.edu 37 4 89618431 89618433 + In_Frame_Del DEL CCT CCT - TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chr4:89618431_89618433delCCT ENST00000323061.5 - 1 953_955 c.473_475delAGG c.(472-477)gct>g p.EA158del HERC3_ENST00000543130.1_Intron|HERC3_ENST00000402738.1_Intron|HERC3_ENST00000264345.3_Intron NM_153757.2 NP_715638.1 Q96NT1 NP1L5_HUMAN nucleosome assembly protein 1-like 5 158 Glu-rich. nucleosome assembly nucleus protein binding endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(123;0.000181) TCTGCCGCAGcctcctcctcctc 0.626 7 202 --- --- --- --- TNRC18 84629 broad.mit.edu 37 7 5428811 5428812 + Frame_Shift_Ins INS - - C TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chr7:5428811_5428812insC ENST00000399537.4 - 5 991_992 c.643_644insG c.(643-645)gccfs p.A215fs TNRC18_ENST00000430969.1_Frame_Shift_Ins_p.A215fs O15417 TNC18_HUMAN trinucleotide repeat containing 18 215 DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) CGGAGGCGGCTCCCCGCCGCGG 0.797 2 4 --- --- --- --- RP11-81H3.2 0 broad.mit.edu 37 12 74668791 74668794 + RNA DEL TATA TATA - TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chr12:74668791_74668794delTATA ENST00000515416.2 - 0 464 RP11-274M17.3_ENST00000552046.1_RNA CTTTAGAAAGTATATAGATTCACT 0.328 11 21 --- --- --- --- HNRNPC 3183 broad.mit.edu 37 14 21679388 21679414 + In_Frame_Del DEL GTCATCCTCGCCATTGGCGCTGTCTCT GTCATCCTCGCCATTGGCGCTGTCTCT - TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chr14:21679388_21679414delGTCATCCTCGCCATTGGCGCTGTCTCT ENST00000430246.2 - 8 3801_3827 c.850_876delAGAGACAGCGCCAATGGCGAGGATGAC c.(850-876)del p.RDSANGEDD284del HNRNPC_ENST00000420743.2_In_Frame_Del_p.RDSANGEDD297del|HNRNPC_ENST00000555883.1_In_Frame_Del_p.RDSANGEDD241del|HNRNPC_ENST00000320084.7_In_Frame_Del_p.RDSANGEDD297del|HNRNPC_ENST00000554969.1_In_Frame_Del_p.RDSANGEDD284del|HNRNPC_ENST00000557201.1_In_Frame_Del_p.RDSANGEDD297del|HNRNPC_ENST00000449098.1_In_Frame_Del_p.RDSANGEDD284del|HNRNPC_ENST00000553300.1_In_Frame_Del_p.RDSANGEDD284del|HNRNPC_ENST00000556897.1_In_Frame_Del_p.RDSANGEDD284del|HNRNPC_ENST00000556628.1_In_Frame_Del_p.RDSANGEDD217del|HNRNPC_ENST00000554455.1_In_Frame_Del_p.RDSANGEDD297del|HNRNPC_ENST00000556513.1_3'UTR|HNRNPC_ENST00000553753.1_3'UTR|HNRNPC_ENST00000556142.1_3'UTR|HNRNPC_ENST00000555914.1_In_Frame_Del_p.RDSANGEDD283del|HNRNPC_ENST00000336053.6_3'UTR|HNRNPC_ENST00000555309.1_In_Frame_Del_p.RDSANGEDD296del P07910 HNRPC_HUMAN heterogeneous nuclear ribonucleoprotein C (C1/C2) 297 Asp/Glu-rich (acidic). catalytic step 2 spliceosome|nucleoplasm identical protein binding|nucleotide binding|RNA binding breast(1)|liver(1)|lung(6)|skin(1) 9 all_cancers(95;0.00176) Epithelial(56;1.08e-06)|all cancers(55;8.95e-06) GBM - Glioblastoma multiforme(265;0.00783) GTGCTTAAGAGTCATCCTCGCCATTGGCGCTGTCTCTGTCATCCTCT 0.445 63 187 --- --- --- --- DMXL2 23312 broad.mit.edu 37 15 51791722 51791724 + In_Frame_Del DEL AAG AAG - TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chr15:51791722_51791724delAAG ENST00000251076.5 - 18 3984_3986 c.3697_3699delCTT c.(3697-3699)del p.L1233del DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_In_Frame_Del_p.L1233del NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 1233 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) CTATAGATCTAAGAAGAACCCAT 0.424 8 115 --- --- --- --- GSPT1 2935 broad.mit.edu 37 16 12009530 12009531 + In_Frame_Ins INS - - CCG rs71408216 TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chr16:12009530_12009531insCCG ENST00000434724.2 - 1 246_247 c.47_48insCGG c.(46-48)gag>gCGGag p.15_16insA AC007216.1_ENST00000583357.1_RNA|GSPT1_ENST00000420576.2_Intron|GSPT1_ENST00000439887.2_In_Frame_Ins_p.15_16insA NM_001130006.1|NM_002094.3 NP_001123478.1|NP_002085.2 P15170 ERF3A_HUMAN G1 to S phase transition 1 42 G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation intracellular GTP binding|GTPase activity|protein binding|translation release factor activity breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 14 cgctgctgctcccgccgccgcc 0.772 4 2 --- --- --- --- FXR2 9513 broad.mit.edu 37 17 7496341 7496341 + Frame_Shift_Del DEL G G - TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chr17:7496341delG ENST00000250113.7 - 13 1823 c.1489delC c.(1489-1491)ggfs p.R497fs NM_004860.3 NP_004851.2 P51116 FXR2_HUMAN fragile X mental retardation, autosomal homolog 2 497 cytosolic large ribosomal subunit protein binding|RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1) 26 READ - Rectum adenocarcinoma(115;0.17) GAAGTGGGCCGGGGGGCAGGT 0.617 14 81 --- --- --- --- TBC1D3P2 0 broad.mit.edu 37 17 60347260 60347260 + RNA DEL T T - rs71816198 TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chr17:60347260delT ENST00000581291.1 - 0 581 breast(2)|kidney(1)|lung(2) 5 CTCTGAATGATTTTTTTTTTT 0.448 3 4 --- --- --- --- ENGASE 64772 broad.mit.edu 37 17 77079175 77079177 + In_Frame_Del DEL AGA AGA - TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chr17:77079175_77079177delAGA ENST00000579016.1 + 8 1112_1114 c.1112_1114delAGA c.(1111-1116)gag>g p.EK371del ENGASE_ENST00000584568.1_3'UTR NM_001042573.2 NP_001036038.1 Q8NFI3 ENASE_HUMAN endo-beta-N-acetylglucosaminidase 371 BRCT. cytosol mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1) 25 GAGTGTCTGGAGAAGAAGGATTT 0.562 OREG0024792 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 145 --- --- --- --- LINC00669 0 broad.mit.edu 37 18 37248431 37248454 + RNA DEL AGGGAGGAAGGAAGGAAGGAAGGA AGGGAGGAAGGAAGGAAGGAAGGA - rs141334489 by1000genomes TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chr18:37248431_37248454delAGGGAGGAAGGAAGGAAGGAAGGA ENST00000591629.1 - 0 282 NR_024391.1 ggagggagggagggaggaaggaaggaaggaaggaaggaaggaag 0.402 3 3 --- --- --- --- CDC34 997 broad.mit.edu 37 19 537058 537060 + In_Frame_Del DEL CTT CTT - TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chr19:537058_537060delCTT ENST00000215574.4 + 4 626_628 c.408_410delCTT c.(406-411)acc>ac p.TF136del NM_004359.1 NP_004350.1 P49427 UB2R1_HUMAN cell division cycle 34 136 DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination cytoplasm|nucleus ATP binding|protein binding|ubiquitin-protein ligase activity large_intestine(1)|lung(1) 2 all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGCCCAACACCTTCTCGCCCGCA 0.635 42 72 --- --- --- --- IFNGR2 3460 broad.mit.edu 37 21 34799292 34799292 + Frame_Shift_Del DEL T T - TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chr21:34799292delT ENST00000290219.6 + 4 1162 c.514delT c.(514-516)ttfs p.F173fs IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs|IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs NM_005534.3 NP_005525.2 P38484 INGR2_HUMAN interferon gamma receptor 2 (interferon gamma transducer 1) 173 Fibronectin type-III 2. regulation of interferon-gamma-mediated signaling pathway|response to virus endoplasmic reticulum|integral to plasma membrane interferon-gamma receptor activity NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1) 13 Interferon gamma-1b(DB00033) CTCCACGGCCTTTTTTTGTTA 0.458 8 554 --- --- --- --- PPP6R2 9701 broad.mit.edu 37 22 50878211 50878212 + Frame_Shift_Del DEL GT GT - TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chr22:50878211_50878212delGT ENST00000359139.3 + 19 2526_2527 c.2132_2133delGT c.(2131-2133)afs p.S711fs PPP6R2_ENST00000395744.3_Frame_Shift_Del_p.S710fs|PPP6R2_ENST00000216061.5_Frame_Shift_Del_p.S737fs|PPP6R2_ENST00000395741.3_Frame_Shift_Del_p.S711fs NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4 NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2 O75170 PP6R2_HUMAN protein phosphatase 6, regulatory subunit 2 737 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 22 GTGGGTTCCAGTGTGTGGGCAG 0.609 7 28 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76778848 76778849 + Frame_Shift_Ins INS - - GTATC TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e66ac-e905-436d-8aee-4da7b8e1df1d a676be18-91f6-45cd-82d5-a604293c8583 g.chrX:76778848_76778849insGTATC ENST00000373344.5 - 31 6944_6945 c.6730_6731insGATAC c.(6730-6732)taafs p.*2244fs ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.*2206fs NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 2244 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) GTGTTCTTTATGTATCTGAAGG 0.386 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 48 49 --- --- --- ---