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 NOS2 4843 broad.mit.edu 37 17 26106045 26106045 + Missense_Mutation SNP C C T TCGA-V1-A9OY-01A-11D-A41K-08 TCGA-V1-A9OY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9454b4b6-985f-4e62-bbe9-1e61cf2e786b 7273e5ac-35e8-4188-bc14-ee745c353554 g.chr17:26106045C>T ENST00000313735.6 - 10 1275 c.1042G>A c.(1042-1044)Gcc>Acc p.A348T NM_000625.4 NP_000616.3 P35228 NOS2_HUMAN nitric oxide synthase 2, inducible 348 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) GCAGGCAGGGCGTACCACTTT 0.502000 19 47 0 0 1 0 0 DCAF5 8816 broad.mit.edu 37 14 69521532 69521532 + Missense_Mutation SNP T T C TCGA-V1-A9OY-01A-11D-A41K-08 TCGA-V1-A9OY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9454b4b6-985f-4e62-bbe9-1e61cf2e786b 7273e5ac-35e8-4188-bc14-ee745c353554 g.chr14:69521532T>C ENST00000341516.5 - 9 2018 c.1871A>G c.(1870-1872)gAc>gGc p.D624G DCAF5_ENST00000556847.1_Missense_Mutation_p.D542G|DCAF5_ENST00000557386.1_Missense_Mutation_p.D623G|DCAF5_ENST00000554215.1_Missense_Mutation_p.D542G NM_003861.2 NP_003852.1 Q96JK2 DCAF5_HUMAN DDB1 and CUL4 associated factor 5 624 CUL4 RING ubiquitin ligase complex breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2) 29 GGAGGAGAGGTCATCCACTTT 0.522000 11 88 0 0 1 0 0 SLC16A3 9123 broad.mit.edu 37 17 80195392 80195392 + Missense_Mutation SNP T T C TCGA-V1-A9OY-01A-11D-A41K-08 TCGA-V1-A9OY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9454b4b6-985f-4e62-bbe9-1e61cf2e786b 7273e5ac-35e8-4188-bc14-ee745c353554 g.chr17:80195392T>C ENST00000581287.1 + 3 3068 c.746T>C c.(745-747)gTg>gCg p.V249A SLC16A3_ENST00000392339.1_Missense_Mutation_p.V249A|SLC16A3_ENST00000392341.1_Missense_Mutation_p.V249A|SLC16A3_ENST00000582743.1_Missense_Mutation_p.V249A NM_001206951.1|NM_001206952.1 NP_001193880.1|NP_001193881.1 O15427 MOT4_HUMAN solute carrier family 16 (monocarboxylate transporter), member 3 249 blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane secondary active monocarboxylate transmembrane transporter activity|symporter activity endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149) Pyruvic acid(DB00119) CCCGTGTTCGTGGTGAGCTAC 0.682000 7 34 0 0 1 0 0 PHYH 5264 broad.mit.edu 37 10 13325695 13325695 + Missense_Mutation SNP G G A rs104894178 byFrequency TCGA-V1-A9OY-01A-11D-A41K-08 TCGA-V1-A9OY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9454b4b6-985f-4e62-bbe9-1e61cf2e786b 7273e5ac-35e8-4188-bc14-ee745c353554 g.chr10:13325695G>A ENST00000396920.3 - 7 1176 c.772C>T c.(772-774)Cgg>Tgg p.R258W PHYH_ENST00000396913.2_Missense_Mutation_p.R175W|PHYH_ENST00000263038.4_Missense_Mutation_p.R275W O14832 PAHX_HUMAN phytanoyl-CoA 2-hydroxylase 275 fatty acid alpha-oxidation|nervous system development peroxisomal matrix electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2) 25 Ovarian(717;0.0448) Antihemophilic Factor(DB00025)|Vitamin C(DB00126) CTTACCTTCCGGAATCCCTGG 0.423000 16 96 0 0 1 0 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72664015 72664015 + RNA SNP C C G TCGA-V1-A9OY-01A-11D-A41K-08 TCGA-V1-A9OY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9454b4b6-985f-4e62-bbe9-1e61cf2e786b 7273e5ac-35e8-4188-bc14-ee745c353554 g.chr7:72664015C>G ENST00000425256.1 - 0 885 NR_002164.1 ATACCACCCCCGGGGCATGCC 0.507000 4 16 0 0 1 0 0 GNL3 26354 broad.mit.edu 37 3 52720844 52720844 + Splice_Site SNP G G T TCGA-V1-A9OY-01A-11D-A41K-08 TCGA-V1-A9OY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9454b4b6-985f-4e62-bbe9-1e61cf2e786b 7273e5ac-35e8-4188-bc14-ee745c353554 g.chr3:52720844G>T ENST00000394799.2 + 2 246 c.e2+1 GNL3_ENST00000460073.1_Intron|GNL3_ENST00000418458.1_Splice_Site NM_206825.1 NP_996561.1 Q9BVP2 GNL3_HUMAN guanine nucleotide binding protein-like 3 (nucleolar) regulation of cell proliferation nucleolus GTP binding|protein binding breast(4)|endometrium(3)|large_intestine(3)|lung(2) 12 BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048) CCAAAAAAAGGTAAGTGTAGT 0.388000 7 32 3.09899e-07 3.25791e-07 1 1 0 GNL3 26354 broad.mit.edu 37 3 52720845 52720845 + Splice_Site SNP T T C TCGA-V1-A9OY-01A-11D-A41K-08 TCGA-V1-A9OY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9454b4b6-985f-4e62-bbe9-1e61cf2e786b 7273e5ac-35e8-4188-bc14-ee745c353554 g.chr3:52720845T>C ENST00000394799.2 + 2 246 c.e2+2 GNL3_ENST00000460073.1_Intron|GNL3_ENST00000418458.1_Splice_Site NM_206825.1 NP_996561.1 Q9BVP2 GNL3_HUMAN guanine nucleotide binding protein-like 3 (nucleolar) regulation of cell proliferation nucleolus GTP binding|protein binding breast(4)|endometrium(3)|large_intestine(3)|lung(2) 12 BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048) CAAAAAAAGGTAAGTGTAGTG 0.388000 7 30 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51947999 51947999 + Missense_Mutation SNP G G A rs137852944 byFrequency TCGA-V1-A9OY-01A-11D-A41K-08 TCGA-V1-A9OY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9454b4b6-985f-4e62-bbe9-1e61cf2e786b 7273e5ac-35e8-4188-bc14-ee745c353554 g.chr6:51947999G>A ENST00000371117.3 - 3 382 c.107C>T c.(106-108)aCg>aTg p.T36M PKHD1_ENST00000340994.4_Missense_Mutation_p.T36M NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 36 IPT/TIG 1; atypical. T -> M (in ARPKD; common mutation; dbSNP:rs28939383). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) TGTGATCCACGTTCCCCCTGC 0.393000 4 75 0 0 1 0 0 CACNG2 10369 broad.mit.edu 37 22 36960572 36960572 + Silent SNP C C T TCGA-V1-A9OY-01A-11D-A41K-08 TCGA-V1-A9OY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9454b4b6-985f-4e62-bbe9-1e61cf2e786b 7273e5ac-35e8-4188-bc14-ee745c353554 g.chr22:36960572C>T ENST00000300105.6 - 4 1779 c.798G>A c.(796-798)acG>acA p.T266T NM_006078.3 NP_006069.1 Q9Y698 CCG2_HUMAN calcium channel, voltage-dependent, gamma subunit 2 266 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 18 TGGAGATCTCCGTGGACGGCA 0.667000 5 72 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414352 20414352 + Silent SNP G G A TCGA-V1-A9OY-01A-11D-A41K-08 TCGA-V1-A9OY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9454b4b6-985f-4e62-bbe9-1e61cf2e786b 7273e5ac-35e8-4188-bc14-ee745c353554 g.chr9:20414352G>A ENST00000380338.4 - 5 778 c.492C>T c.(490-492)agC>agT p.S164S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S161S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 164 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tactgctgctgctgctgctgc 0.537000 T MLL ALL 5 50 0 0 1 0 0 PER2 8864 broad.mit.edu 37 2 239181795 239181795 + Missense_Mutation SNP C C G TCGA-V1-A9OY-01A-11D-A41K-08 TCGA-V1-A9OY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9454b4b6-985f-4e62-bbe9-1e61cf2e786b 7273e5ac-35e8-4188-bc14-ee745c353554 g.chr2:239181795C>G ENST00000254657.3 - 5 765 c.486G>C c.(484-486)gaG>gaC p.E162D PER2_ENST00000440245.1_Missense_Mutation_p.E162D|PER2_ENST00000355768.2_Missense_Mutation_p.E162D|PER2_ENST00000254658.3_Missense_Mutation_p.E162D NM_022817.2 NP_073728.1 O15055 PER2_HUMAN period circadian clock 2 162 circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) AGGGGTGACCCTCGCTGGACA 0.567000 3 34 0 0 1 0 0 MCMBP 79892 broad.mit.edu 37 10 121591577 121591577 + Silent SNP G G A TCGA-V1-A9OY-01A-11D-A41K-08 TCGA-V1-A9OY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9454b4b6-985f-4e62-bbe9-1e61cf2e786b 7273e5ac-35e8-4188-bc14-ee745c353554 g.chr10:121591577G>A ENST00000360003.3 - 15 1918 c.1749C>T c.(1747-1749)aaC>aaT p.N583N MCMBP_ENST00000466047.1_5'UTR|MCMBP_ENST00000369077.3_Silent_p.N581N NM_001256378.1|NM_001256379.1|NM_024834.3 NP_001243307.1|NP_001243308.1|NP_079110.1 Q9BTE3 MCMBP_HUMAN minichromosome maintenance complex binding protein 583 cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion nucleus chromatin binding breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2) 21 TCTGAGGGTCGTTCTTCCGCA 0.423000 10 44 0 0 1 0 0 PDP1 54704 broad.mit.edu 37 8 94934324 94934324 + Missense_Mutation SNP C C G TCGA-V1-A9OY-01A-11D-A41K-08 TCGA-V1-A9OY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9454b4b6-985f-4e62-bbe9-1e61cf2e786b 7273e5ac-35e8-4188-bc14-ee745c353554 g.chr8:94934324C>G ENST00000396200.3 + 3 388 c.112C>G c.(112-114)Cgt>Ggt p.R38G PDP1_ENST00000517764.1_Missense_Mutation_p.R13G|PDP1_ENST00000520728.1_Missense_Mutation_p.R13G|PDP1_ENST00000297598.4_Missense_Mutation_p.R13G NM_001161779.1 NP_001155251.1 Q9P0J1 PDP1_HUMAN pyruvate dehyrogenase phosphatase catalytic subunit 1 13 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|protein serine/threonine phosphatase complex [pyruvate dehydrogenase (lipoamide)] phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2) 18 TCCTCTCATCCGTAACTGTGA 0.473000 10 56 0 0 1 0 0 CLASP2 23122 broad.mit.edu 37 3 33557515 33557515 + Splice_Site SNP C C T TCGA-V1-A9OY-01A-11D-A41K-08 TCGA-V1-A9OY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9454b4b6-985f-4e62-bbe9-1e61cf2e786b 7273e5ac-35e8-4188-bc14-ee745c353554 g.chr3:33557515C>T ENST00000399362.4 - 36 4484 c.4131_splice c.e36+1 p.E1377_splice CLASP2_ENST00000307312.7_Splice_Site_p.E859_splice|CLASP2_ENST00000480013.1_Splice_Site_p.E1157_splice|CLASP2_ENST00000359576.5_Splice_Site_p.E1369_splice|CLASP2_ENST00000539981.1_3'UTR|CLASP2_ENST00000461133.3_Splice_Site_p.E1137_splice|CLASP2_ENST00000468888.2_Splice_Site_p.E1378_splice NM_015097.2 NP_055912.2 B2RTR1 B2RTR1_HUMAN cytoplasmic linker associated protein 2 1379 breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 48 GGTAACTTACCTCCTTATGAG 0.318000 4 18 0 0 1 0 0 CACNG5 27091 broad.mit.edu 37 17 64880940 64880940 + Nonsense_Mutation SNP C C A TCGA-V1-A9OY-01A-11D-A41K-08 TCGA-V1-A9OY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9454b4b6-985f-4e62-bbe9-1e61cf2e786b 7273e5ac-35e8-4188-bc14-ee745c353554 g.chr17:64880940C>A ENST00000169565.3 + 4 732 c.732C>A c.(730-732)taC>taA p.Y244* CACNG5_ENST00000533854.1_Intron|CACNG5_ENST00000307139.3_Intron Q9UF02 CCG5_HUMAN calcium channel, voltage-dependent, gamma subunit 5 0 SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089). regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane voltage-gated calcium channel activity NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(6;1.61e-08) CACTGTCTTACCTTTCTGGGT 0.602000 17 40 3.52763e-06 3.61582e-06 1 1 0 ADAMTS8 11095 broad.mit.edu 37 11 130281313 130281313 + Splice_Site SNP G G A TCGA-V1-A9OY-01A-11D-A41K-08 TCGA-V1-A9OY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9454b4b6-985f-4e62-bbe9-1e61cf2e786b 7273e5ac-35e8-4188-bc14-ee745c353554 g.chr11:130281313G>A ENST00000257359.6 - 6 2455 c.1750_splice c.e6+1 p.D583_splice NM_007037.4 NP_008968.4 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 8 583 Cys-rich. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding p.D583D(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) GGTAATTACCGTCAGGGGGGC 0.582000 3 23 0 0 1 0 0 MAP7D1 55700 broad.mit.edu 37 1 36641841 36641841 + Missense_Mutation SNP G G A TCGA-V1-A9OY-01A-11D-A41K-08 TCGA-V1-A9OY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9454b4b6-985f-4e62-bbe9-1e61cf2e786b 7273e5ac-35e8-4188-bc14-ee745c353554 g.chr1:36641841G>A ENST00000316156.4 + 6 1234 c.781G>A c.(781-783)Gat>Aat p.D261N MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373151.2_Missense_Mutation_p.D298N|MAP7D1_ENST00000373150.4_Missense_Mutation_p.D298N Q3KQU3 MA7D1_HUMAN MAP7 domain containing 1 298 cytoplasm|spindle breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 19 Myeloproliferative disorder(586;0.0393) CAGCATCGTGGATCGTCTGAT 0.677000 5 6 0 0 1 0 0 EMR2 30817 broad.mit.edu 37 19 14866467 14866467 + Splice_Site SNP C C T rs142367407 TCGA-V1-A9OY-01A-11D-A41K-08 TCGA-V1-A9OY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9454b4b6-985f-4e62-bbe9-1e61cf2e786b 7273e5ac-35e8-4188-bc14-ee745c353554 g.chr19:14866467C>T ENST00000315576.3 - 13 1866 c.1416_splice c.e13+1 p.R472_splice EMR2_ENST00000392967.2_Splice_Site_p.R461_splice|EMR2_ENST00000392964.3_Intron|EMR2_ENST00000353876.1_Splice_Site_p.R379_splice|EMR2_ENST00000595839.1_Splice_Site_p.R330_splice|EMR2_ENST00000596991.2_Splice_Site_p.R461_splice|EMR2_ENST00000594294.1_Splice_Site_p.R423_splice|EMR2_ENST00000594076.1_Splice_Site_p.R379_splice|EMR2_ENST00000353005.1_Splice_Site_p.R330_splice|EMR2_ENST00000346057.1_Splice_Site_p.R423_splice|EMR2_ENST00000392965.3_Splice_Site_p.R472_splice|EMR2_ENST00000601345.1_Splice_Site_p.R461_splice NM_013447.2 NP_038475.2 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone receptor-like 2 472 cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 48 AGCACTCACACGGTGGGAGAA 0.577000 12 67 0 0 1 0 0 KRTAP9-4 85280 broad.mit.edu 37 17 39406130 39406130 + Missense_Mutation SNP G G A TCGA-V1-A9OY-01A-11D-A41K-08 TCGA-V1-A9OY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9454b4b6-985f-4e62-bbe9-1e61cf2e786b 7273e5ac-35e8-4188-bc14-ee745c353554 g.chr17:39406130G>A ENST00000334109.2 + 1 192 c.158G>A c.(157-159)cGc>cAc p.R53H NM_033191.2 NP_149461.2 Q9BYQ2 KRA94_HUMAN keratin associated protein 9-4 53 15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF]. keratin filament p.R53H(4) breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) CCTTGCTGCCGCCCAACTTGC 0.642000 4 69 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-V1-A9OY-01A-11D-A41K-08 TCGA-V1-A9OY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9454b4b6-985f-4e62-bbe9-1e61cf2e786b 7273e5ac-35e8-4188-bc14-ee745c353554 g.chr16:90162513T>C ENST00000567960.1 + 0 1249 TUBB8P7_ENST00000564451.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 4 95 0 0 1 0 0 GPHN 10243 broad.mit.edu 37 14 67555762 67555762 + Missense_Mutation SNP G G A TCGA-V1-A9OY-01A-11D-A41K-08 TCGA-V1-A9OY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9454b4b6-985f-4e62-bbe9-1e61cf2e786b 7273e5ac-35e8-4188-bc14-ee745c353554 g.chr14:67555762G>A ENST00000478722.1 + 12 2328 c.1207G>A c.(1207-1209)Gca>Aca p.A403T GPHN_ENST00000543237.1_Missense_Mutation_p.A416T|GPHN_ENST00000315266.5_Missense_Mutation_p.A370T|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Missense_Mutation_p.A339T NM_020806.4 NP_065857.1 Q9NQX3 GEPH_HUMAN gephyrin 370 MPT adenylyltransferase. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cell junction|cytoplasm|cytoskeleton|postsynaptic membrane ATP binding|metal ion binding|nucleotidyltransferase activity large_intestine(8)|liver(1)|ovary(2)|stomach(1) 12 all_cancers(7;0.0476)|all_hematologic(31;0.0116) Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184) CCCCTTCCCAGCATCAGTAAA 0.348000 T MLL AL 16 41 0 0 1 0 0 SPOP 8405 broad.mit.edu 37 17 47679302 47679302 + Missense_Mutation SNP G G A TCGA-V1-A9OY-01A-11D-A41K-08 TCGA-V1-A9OY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9454b4b6-985f-4e62-bbe9-1e61cf2e786b 7273e5ac-35e8-4188-bc14-ee745c353554 g.chr17:47679302G>A ENST00000393331.3 - 11 1375 c.905C>T c.(904-906)gCt>gTt p.A302V SPOP_ENST00000393328.2_Missense_Mutation_p.A302V|SPOP_ENST00000347630.2_Missense_Mutation_p.A302V|SPOP_ENST00000504102.1_Missense_Mutation_p.A302V|SPOP_ENST00000503676.1_Missense_Mutation_p.A302V NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 302 Homodimerization. mRNA processing nucleus protein binding endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 AATTTCTGCAGCGTTCTCCAC 0.488000 Prostate(2;0.17) 4 92 0 0 1 0 0 HTR1E 3354 broad.mit.edu 37 6 87725081 87725081 + Missense_Mutation SNP C C T TCGA-V1-A9OY-01A-11D-A41K-08 TCGA-V1-A9OY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9454b4b6-985f-4e62-bbe9-1e61cf2e786b 7273e5ac-35e8-4188-bc14-ee745c353554 g.chr6:87725081C>T ENST00000305344.4 + 2 732 c.29C>T c.(28-30)gCc>gTc p.A10V HTR1E_ENST00000369584.1_Missense_Mutation_p.A10V NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 10 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) ACCACAGAGGCCAGCATGGCT 0.468000 6 20 0 0 1 0 0 L3MBTL3 84456 broad.mit.edu 37 6 130387569 130387569 + Silent SNP C C T rs139205810 byFrequency TCGA-V1-A9OY-01A-11D-A41K-08 TCGA-V1-A9OY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9454b4b6-985f-4e62-bbe9-1e61cf2e786b 7273e5ac-35e8-4188-bc14-ee745c353554 g.chr6:130387569C>T ENST00000529410.1 + 13 1415 c.936C>T c.(934-936)gaC>gaT p.D312D L3MBTL3_ENST00000361794.2_Silent_p.D312D|L3MBTL3_ENST00000368136.2_Silent_p.D312D|L3MBTL3_ENST00000368139.2_Silent_p.D287D|L3MBTL3_ENST00000526019.1_Silent_p.D287D|L3MBTL3_ENST00000533560.1_Silent_p.D287D Q96JM7 LMBL3_HUMAN l(3)mbt-like 3 (Drosophila) 312 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1) 43 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) TGAATGCAGACGCTCTGGATA 0.403000 18 79 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16257885 16257885 + Missense_Mutation SNP C C T TCGA-V1-A9OY-01A-11D-A41K-08 TCGA-V1-A9OY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9454b4b6-985f-4e62-bbe9-1e61cf2e786b 7273e5ac-35e8-4188-bc14-ee745c353554 g.chr1:16257885C>T ENST00000375759.3 + 11 5354 c.5150C>T c.(5149-5151)gCg>gTg p.A1717V NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 1717 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) ATGATGCCTGCGGGTGTTGAG 0.582000 25 109 0 0 1 0 0 GMPPB 29925 broad.mit.edu 37 3 49759417 49759417 + Missense_Mutation SNP C C T TCGA-V1-A9OY-01A-11D-A41K-08 TCGA-V1-A9OY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9454b4b6-985f-4e62-bbe9-1e61cf2e786b 7273e5ac-35e8-4188-bc14-ee745c353554 g.chr3:49759417C>T ENST00000480687.1 - 9 1048 c.932G>A c.(931-933)cGc>cAc p.R311H GMPPB_ENST00000308388.6_Missense_Mutation_p.R311H|GMPPB_ENST00000308375.6_Missense_Mutation_p.R311H|AMIGO3_ENST00000535833.1_5'UTR Q9Y5P6 GMPPB_HUMAN GDP-mannose pyrophosphorylase B 311 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine GTP binding|mannose-1-phosphate guanylyltransferase activity endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CACGCGGCAGCGCCAGCCCAC 0.662000 6 25 0 0 1 0 0 PODNL1 79883 broad.mit.edu 37 19 14043545 14043545 + Silent SNP G G A TCGA-V1-A9OY-01A-11D-A41K-08 TCGA-V1-A9OY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9454b4b6-985f-4e62-bbe9-1e61cf2e786b 7273e5ac-35e8-4188-bc14-ee745c353554 g.chr19:14043545G>A ENST00000538517.2 - 6 1483 c.1239C>T c.(1237-1239)caC>caT p.H413H PODNL1_ENST00000254320.3_Silent_p.H422H|PODNL1_ENST00000538371.2_Silent_p.H502H|PODNL1_ENST00000339560.5_Silent_p.H504H NM_001146255.1 NP_001139727.1 Q6PEZ8 PONL1_HUMAN podocan-like 1 504 Leu-rich. proteinaceous extracellular matrix central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(19;5.26e-23) TGTTTGGGACGTGGCAGGGCA 0.577000 4 72 0 0 1 0 0 CAPN2 824 broad.mit.edu 37 1 223900386 223900386 + Frame_Shift_Del DEL C C - TCGA-V1-A9OY-01A-11D-A41K-08 TCGA-V1-A9OY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9454b4b6-985f-4e62-bbe9-1e61cf2e786b 7273e5ac-35e8-4188-bc14-ee745c353554 g.chr1:223900386delC ENST00000295006.5 + 1 353 c.44delC c.(43-45)gcfs p.A15fs CAPN2_ENST00000433674.2_Intron NM_001748.4 NP_001739.2 P17655 CAN2_HUMAN calpain 2, (m/II) large subunit 15 proteolysis cytoplasm|plasma membrane breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3) 29 GBM - Glioblastoma multiforme(131;0.109) CGGGAGGCGGCCGAGGGGCTG 0.711 2 4 --- --- --- --- SRGAP3 9901 broad.mit.edu 37 3 9032419 9032420 + Frame_Shift_Ins INS - - G TCGA-V1-A9OY-01A-11D-A41K-08 TCGA-V1-A9OY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9454b4b6-985f-4e62-bbe9-1e61cf2e786b 7273e5ac-35e8-4188-bc14-ee745c353554 g.chr3:9032419_9032420insG ENST00000383836.3 - 21 3089_3090 c.2662_2663insC c.(2662-2664)ggcfs p.G888fs SRGAP3_ENST00000360413.3_Frame_Shift_Ins_p.G864fs NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 888 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) GGCAGCAGCCCGGGGTGGTGTG 0.703 T RAF1 pilocytic astrocytoma 3 5 --- --- --- --- DBR1 51163 broad.mit.edu 37 3 137880741 137880743 + In_Frame_Del DEL TCG TCG - rs2622736 byFrequency TCGA-V1-A9OY-01A-11D-A41K-08 TCGA-V1-A9OY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9454b4b6-985f-4e62-bbe9-1e61cf2e786b 7273e5ac-35e8-4188-bc14-ee745c353554 g.chr3:137880741_137880743delTCG ENST00000260803.4 - 8 1776_1778 c.1623_1625delCGA c.(1621-1626)gat>ga p.DD541del DBR1_ENST00000505015.2_In_Frame_Del_p.DD307del NM_016216.3 NP_057300.2 Q9UK59 DBR1_HUMAN debranching RNA lariats 1 541 nucleus metal ion binding|RNA lariat debranching enzyme activity NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 TTAAGCTGCATCGTCATCATCAT 0.394 7 97 --- --- --- --- CTC-467M3.1 0 broad.mit.edu 37 5 87980814 87980816 + RNA DEL GAG GAG - TCGA-V1-A9OY-01A-11D-A41K-08 TCGA-V1-A9OY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9454b4b6-985f-4e62-bbe9-1e61cf2e786b 7273e5ac-35e8-4188-bc14-ee745c353554 g.chr5:87980814_87980816delGAG ENST00000510274.1 + 0 46 ggaggaggaagaggaggaggagg 0.581 2 4 --- --- --- --- MCC 4163 broad.mit.edu 37 5 112824048 112824049 + In_Frame_Ins INS - - GCC rs35336557 TCGA-V1-A9OY-01A-11D-A41K-08 TCGA-V1-A9OY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9454b4b6-985f-4e62-bbe9-1e61cf2e786b 7273e5ac-35e8-4188-bc14-ee745c353554 g.chr5:112824048_112824049insGCC ENST00000408903.3 - 1 478_479 c.63_64insGGC c.(61-66)gggcgg>ggGGCgcgg p.21_22GR>GAR NM_001085377.1 NP_001078846.1 P23508 CRCM_HUMAN mutated in colorectal cancers 549 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) ctgctgccgctgccgccgccgc 0.738 5 9 --- --- --- --- MUC17 140453 broad.mit.edu 37 7 100684307 100684308 + In_Frame_Ins INS - - CTC TCGA-V1-A9OY-01A-11D-A41K-08 TCGA-V1-A9OY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9454b4b6-985f-4e62-bbe9-1e61cf2e786b 7273e5ac-35e8-4188-bc14-ee745c353554 g.chr7:100684307_100684308insCTC ENST00000306151.4 + 3 9674_9675 c.9610_9611insCTC c.(9610-9612)tac>CTCtac p.3203_3204insL NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3203 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) AGCCACTTCATCTACAACTGCT 0.500 7 263 --- --- --- --- USHBP1 83878 broad.mit.edu 37 19 17375158 17375158 + Splice_Site DEL T T - TCGA-V1-A9OY-01A-11D-A41K-08 TCGA-V1-A9OY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9454b4b6-985f-4e62-bbe9-1e61cf2e786b 7273e5ac-35e8-4188-bc14-ee745c353554 g.chr19:17375158delT ENST00000252597.3 - 2 126 c.e2-2 USHBP1_ENST00000598570.1_Splice_Site|USHBP1_ENST00000431146.2_Splice_Site NM_031941.3 NP_114147.2 Q8N6Y0 USBP1_HUMAN Usher syndrome 1C binding protein 1 PDZ domain binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 CGTCAACCCCTAAAACCACAG 0.582 3 3 --- --- --- --- PQBP1 10084 broad.mit.edu 37 X 48759668 48759669 + Frame_Shift_Del DEL AG AG - TCGA-V1-A9OY-01A-11D-A41K-08 TCGA-V1-A9OY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9454b4b6-985f-4e62-bbe9-1e61cf2e786b 7273e5ac-35e8-4188-bc14-ee745c353554 g.chrX:48759668_48759669delAG ENST00000218224.4 + 4 705_706 c.451_452delAG c.(451-453)afs p.R151fs PQBP1_ENST00000396763.1_Frame_Shift_Del_p.R151fs|PQBP1_ENST00000376563.1_Frame_Shift_Del_p.R151fs|PQBP1_ENST00000376566.4_Intron|PQBP1_ENST00000247140.4_Intron|PQBP1_ENST00000447146.2_Frame_Shift_Del_p.R151fs|PQBP1_ENST00000473764.1_3'UTR NM_005710.2 NP_005701.1 O60828 PQBP1_HUMAN polyglutamine binding protein 1 151 7 X 2 AA tandem repeats of [DE]-R.|Arg-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|transcription coactivator activity breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2) 11 CAAGGTAGACAGAGAGAGAGAG 0.619 2 4 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76938946 76938956 + Frame_Shift_Del DEL TTAATTGGGGA TTAATTGGGGA - TCGA-V1-A9OY-01A-11D-A41K-08 TCGA-V1-A9OY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9454b4b6-985f-4e62-bbe9-1e61cf2e786b 7273e5ac-35e8-4188-bc14-ee745c353554 g.chrX:76938946_76938956delTTAATTGGGGA ENST00000373344.5 - 9 2006_2016 c.1792_1802delTCCCCAATTAA c.(1792-1803)afs p.SPIK598fs ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.SPIK560fs NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 598 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 p.?(1) 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) ATCAGCACCTTTAATTGGGGAATTAGAAAGG 0.355 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 58 121 --- --- --- ---