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 TP53 7157 broad.mit.edu 37 17 7577547 7577547 + Missense_Mutation SNP C C T rs121912656 TCGA-DB-5276-01A-01D-1468-08 TCGA-DB-5276-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6b7655-9307-4c8b-b1f6-f29a4dabd72c 289ad150-2e4f-4d98-9ebc-af05a0b95e7f g.chr17:7577547C>T ENST00000420246.2 - 7 866 c.734G>A c.(733-735)gGc>gAc p.G245D TP53_ENST00000269305.4_Missense_Mutation_p.G245D|TP53_ENST00000455263.2_Missense_Mutation_p.G245D|TP53_ENST00000359597.4_Missense_Mutation_p.G245D|TP53_ENST00000413465.2_Missense_Mutation_p.G245D|TP53_ENST00000445888.2_Missense_Mutation_p.G245D NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 245 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and 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.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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) CCGGTTCATGCCGCCCATGCA 0.582000 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) 20 28 0 0 0.624587 0 0 VPS16 64601 broad.mit.edu 37 20 2843377 2843377 + Silent SNP C C T TCGA-DB-5276-01A-01D-1468-08 TCGA-DB-5276-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6b7655-9307-4c8b-b1f6-f29a4dabd72c 289ad150-2e4f-4d98-9ebc-af05a0b95e7f g.chr20:2843377C>T ENST00000380443.3 + 1 275 c.186C>T c.(184-186)gcC>gcT p.A62A VPS16_ENST00000380469.3_Intron|VPS16_ENST00000481812.2_Intron|VPS16_ENST00000380445.3_Intron Q9H269 VPS16_HUMAN vacuolar protein sorting 16 homolog (S. cerevisiae) 401 intracellular protein transport early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 37 ATGGCCGGGCCGGGGAGGGTG 0.647000 4 24 0 0 0.184627 0 0 WDR3 10885 broad.mit.edu 37 1 118483783 118483783 + Missense_Mutation SNP C C T rs150881258 TCGA-DB-5276-01A-01D-1468-08 TCGA-DB-5276-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6b7655-9307-4c8b-b1f6-f29a4dabd72c 289ad150-2e4f-4d98-9ebc-af05a0b95e7f g.chr1:118483783C>T ENST00000349139.4 + 8 873 c.826C>T c.(826-828)Cgg>Tgg p.R276W WDR3_ENST00000369441.3_3'UTR NM_006784.2 NP_006775.1 Q9UNX4 WDR3_HUMAN WD repeat domain 3 276 nuclear membrane|nucleolus p.R276W(1) breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1) 49 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) TTCCATAATGCGGGAAGGAAG 0.423000 18 102 0 0 0.608945 0 0 TBX22 50945 broad.mit.edu 37 X 79279563 79279563 + Splice_Site SNP C C T TCGA-DB-5276-01A-01D-1468-08 TCGA-DB-5276-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6b7655-9307-4c8b-b1f6-f29a4dabd72c 289ad150-2e4f-4d98-9ebc-af05a0b95e7f g.chrX:79279563C>T ENST00000373294.5 + 3 386 c.356_splice c.e3-1 p.R120_splice TBX22_ENST00000373291.1_5'UTR|TBX22_ENST00000373296.3_Splice_Site_p.R120_splice|TBX22_ENST00000442340.1_5'UTR NM_016954.2 NP_058650.1 Q9Y458 TBX22_HUMAN T-box 22 120 multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 TTCTTACAGGCGGATGTTCCC 0.483000 21 24 0 0 0.592651 0 0 AURKC 6795 broad.mit.edu 37 19 57744018 57744018 + Silent SNP C C T rs141028635 TCGA-DB-5276-01A-01D-1468-08 TCGA-DB-5276-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6b7655-9307-4c8b-b1f6-f29a4dabd72c 289ad150-2e4f-4d98-9ebc-af05a0b95e7f g.chr19:57744018C>T ENST00000302804.7 + 4 591 c.405C>T c.(403-405)agC>agT p.S135S AURKC_ENST00000448930.1_Silent_p.S101S|AURKC_ENST00000415300.2_Silent_p.S116S|AURKC_ENST00000599062.1_Silent_p.S132S|AURKC_ENST00000598785.1_Silent_p.S101S NM_001015878.1 NP_001015878.1 Q9UQB9 AURKC_HUMAN aurora kinase C 135 Protein kinase. cell cycle|cytokinesis condensed chromosome|cytoplasm|midbody|spindle midzone ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1) 25 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122) TGCAGAAAAGCGAGAAATTAG 0.537000 7 83 0 0 0.278610 0 0 LGALS13 29124 broad.mit.edu 37 19 40095291 40095291 + Missense_Mutation SNP T T A TCGA-DB-5276-01A-01D-1468-08 TCGA-DB-5276-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6b7655-9307-4c8b-b1f6-f29a4dabd72c 289ad150-2e4f-4d98-9ebc-af05a0b95e7f g.chr19:40095291T>A ENST00000221797.4 + 2 110 c.65T>A c.(64-66)aTc>aAc p.I22N NM_013268.2 NP_037400.1 Q9UHV8 PP13_HUMAN lectin, galactoside-binding, soluble, 13 22 Galectin. lipid catabolic process|phospholipid metabolic process carboxylesterase activity|lysophospholipase activity|sugar binding lung(5)|ovary(1)|urinary_tract(1) 7 all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116) Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281) TGCGTGATAATCAAAGGGACA 0.473000 6 138 0 0 0.248553 0 0 IDH1 3417 broad.mit.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G A rs121913499 TCGA-DB-5276-01A-01D-1468-08 TCGA-DB-5276-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6b7655-9307-4c8b-b1f6-f29a4dabd72c 289ad150-2e4f-4d98-9ebc-af05a0b95e7f g.chr2:209113113G>A ENST00000415913.1 - 4 775 c.394C>T c.(394-396)Cgt>Tgt p.R132C IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C 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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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) TAAGCATGACGACCTATGATG 0.398000 Mis gliobastoma 17 68 0 0 0.520397 0 0 C11orf68 83638 broad.mit.edu 37 11 65685203 65685203 + Missense_Mutation SNP G G T TCGA-DB-5276-01A-01D-1468-08 TCGA-DB-5276-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6b7655-9307-4c8b-b1f6-f29a4dabd72c 289ad150-2e4f-4d98-9ebc-af05a0b95e7f g.chr11:65685203G>T ENST00000438576.2 - 2 694 c.609C>A c.(607-609)agC>agA p.S203R C11orf68_ENST00000530188.1_Missense_Mutation_p.S161R|C11orf68_ENST00000449692.3_Missense_Mutation_p.S202R Q9H3H3 CK068_HUMAN chromosome 11 open reading frame 68 161 large_intestine(1)|lung(3) 4 READ - Rectum adenocarcinoma(159;0.166) TGGCACGTGGGCTCACCTTGG 0.632000 4 65 0.150653 0.15424 0.150653 1 0 FAM86JP 0 broad.mit.edu 37 3 125647387 125647387 + RNA SNP G G A TCGA-DB-5276-01A-01D-1468-08 TCGA-DB-5276-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6b7655-9307-4c8b-b1f6-f29a4dabd72c 289ad150-2e4f-4d98-9ebc-af05a0b95e7f g.chr3:125647387G>A ENST00000485843.1 + 0 532 NR_024251.1 ACCAGAAACTGTTTCCCTATG 0.502000 4 112 0 0 0.184627 0 0 OR51V1 283111 broad.mit.edu 37 11 5221701 5221701 + Missense_Mutation SNP A A G TCGA-DB-5276-01A-01D-1468-08 TCGA-DB-5276-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6b7655-9307-4c8b-b1f6-f29a4dabd72c 289ad150-2e4f-4d98-9ebc-af05a0b95e7f g.chr11:5221701A>G ENST00000321255.1 - 1 229 c.230T>C c.(229-231)cTc>cCc p.L77P NM_001004760.2 NP_001004760.2 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, member 1 77 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGGTCAGTGAGGGCCAGCAT 0.537000 6 66 0 0 0.278610 0 0 PRDM11 56981 broad.mit.edu 37 11 45245878 45245878 + Missense_Mutation SNP C C T TCGA-DB-5276-01A-01D-1468-08 TCGA-DB-5276-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6b7655-9307-4c8b-b1f6-f29a4dabd72c 289ad150-2e4f-4d98-9ebc-af05a0b95e7f g.chr11:45245878C>T ENST00000263765.4 + 8 1204 c.955C>T c.(955-957)Cgt>Tgt p.R319C CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000424263.2_Missense_Mutation_p.R285C|PRDM11_ENST00000530656.1_Missense_Mutation_p.R319C|PRDM11_ENST00000528980.1_Intron Q9NQV5 PRD11_HUMAN PR domain containing 11 319 endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 26 TCCCTACAAGCGTGGCTTTGA 0.507000 17 274 0 0 0.520397 0 0 PCDHA11 0 broad.mit.edu 37 5 140248828 140248828 + Missense_Mutation SNP G G A TCGA-DB-5276-01A-01D-1468-08 TCGA-DB-5276-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6b7655-9307-4c8b-b1f6-f29a4dabd72c 289ad150-2e4f-4d98-9ebc-af05a0b95e7f g.chr5:140248828G>A ENST00000398640.2 + 1 140 c.140G>A c.(139-141)cGc>cAc p.R47H PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCGTGGGCCGCATCGCGCAG 0.642000 4 128 0 0 0.150653 0 0 ALMS1 7840 broad.mit.edu 37 2 73800143 73800143 + Missense_Mutation SNP G G C TCGA-DB-5276-01A-01D-1468-08 TCGA-DB-5276-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6b7655-9307-4c8b-b1f6-f29a4dabd72c 289ad150-2e4f-4d98-9ebc-af05a0b95e7f g.chr2:73800143G>C ENST00000264448.6 + 16 11247 c.11136G>C c.(11134-11136)caG>caC p.Q3712H ALMS1_ENST00000409009.1_Missense_Mutation_p.Q3670H NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 3712 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 AAATTGAACAGATTAAATTTG 0.373000 16 83 0 0 0.520397 0 0 MT-ND5 4540 broad.mit.edu 37 MT 13463 13463 + Missense_Mutation SNP G G A TCGA-DB-5276-01A-01D-1468-08 TCGA-DB-5276-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6b7655-9307-4c8b-b1f6-f29a4dabd72c 289ad150-2e4f-4d98-9ebc-af05a0b95e7f g.chrM:13463G>A ENST00000361567.2 + 1 1127 c.1127G>A c.(1126-1128)gGc>gAc p.G376D P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 376 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) CCTCACCATTGGCAGCCTAGC 0.453000 45 22 0 0 0.870114 0 0 XIRP2 129446 broad.mit.edu 37 2 168110545 168110545 + Missense_Mutation SNP C C G TCGA-DB-5276-01A-01D-1468-08 TCGA-DB-5276-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6b7655-9307-4c8b-b1f6-f29a4dabd72c 289ad150-2e4f-4d98-9ebc-af05a0b95e7f g.chr2:168110545C>G ENST00000409195.1 + 10 10648 c.10559C>G c.(10558-10560)gCt>gGt p.A3520G XIRP2_ENST00000409605.1_Missense_Mutation_p.L172V|XIRP2_ENST00000409728.1_Missense_Mutation_p.L427V|XIRP2_ENST00000295237.9_Missense_Mutation_p.A3520G|XIRP2_ENST00000409273.1_Missense_Mutation_p.A3298G|XIRP2_ENST00000409756.2_Missense_Mutation_p.L394V|XIRP2_ENST00000409043.1_Missense_Mutation_p.L394V|XIRP2_ENST00000420519.1_Missense_Mutation_p.L427V NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 3345 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TTTTTAGAAGCTGCTGCTCCA 0.343000 16 97 0 0 0.520397 0 0 ZNF582 147948 broad.mit.edu 37 19 56901871 56901871 + Splice_Site SNP C C T TCGA-DB-5276-01A-01D-1468-08 TCGA-DB-5276-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6b7655-9307-4c8b-b1f6-f29a4dabd72c 289ad150-2e4f-4d98-9ebc-af05a0b95e7f g.chr19:56901871C>T ENST00000301310.4 - 3 168 c.e3-1 ZNF582_ENST00000586929.1_Splice_Site NM_144690.1 NP_653291.1 Q96NG8 ZN582_HUMAN zinc finger protein 582 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0547) ATTCTGACCCCTGGAATGACA 0.488000 4 110 0 0 0.150653 0 0 GMCL1 64395 broad.mit.edu 37 2 70092031 70092031 + Splice_Site SNP G G T TCGA-DB-5276-01A-01D-1468-08 TCGA-DB-5276-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6b7655-9307-4c8b-b1f6-f29a4dabd72c 289ad150-2e4f-4d98-9ebc-af05a0b95e7f g.chr2:70092031G>T ENST00000282570.3 + 11 1393 c.e11-1 NM_178439.3 NP_848526.1 Q96IK5 GMCL1_HUMAN germ cell-less, spermatogenesis associated 1 cell differentiation|multicellular organismal development|spermatogenesis nuclear matrix endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 15 TATATTTTTAGGCCTCAAGAA 0.318000 3 61 0.150653 0.15424 0.150653 1 0 RBP3 5949 broad.mit.edu 37 10 48390167 48390167 + Silent SNP G G A TCGA-DB-5276-01A-01D-1468-08 TCGA-DB-5276-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6b7655-9307-4c8b-b1f6-f29a4dabd72c 289ad150-2e4f-4d98-9ebc-af05a0b95e7f g.chr10:48390167G>A ENST00000224600.4 - 1 824 c.711C>T c.(709-711)ggC>ggT p.G237G NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 237 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity p.G237G(1) central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) CCTCGGCCACGCCCCTGGTCT 0.657000 25 64 0 0 0.639603 0 0 HERC2P3 0 broad.mit.edu 37 15 20658903 20658903 + RNA SNP T T C TCGA-DB-5276-01A-01D-1468-08 TCGA-DB-5276-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6b7655-9307-4c8b-b1f6-f29a4dabd72c 289ad150-2e4f-4d98-9ebc-af05a0b95e7f g.chr15:20658903T>C ENST00000428453.1 - 0 1963 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 AATAAGTCTTTGCCATCCACA 0.368000 6 143 0 0 0.387290 0 0 TNNT3 7140 broad.mit.edu 37 11 1956135 1956135 + Missense_Mutation SNP C C T TCGA-DB-5276-01A-01D-1468-08 TCGA-DB-5276-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6b7655-9307-4c8b-b1f6-f29a4dabd72c 289ad150-2e4f-4d98-9ebc-af05a0b95e7f g.chr11:1956135C>T ENST00000381558.1 + 13 922 c.643C>T c.(643-645)Cgc>Tgc p.R215C TNNT3_ENST00000278317.6_Missense_Mutation_p.R223C|TNNT3_ENST00000397301.1_Missense_Mutation_p.R234C|TNNT3_ENST00000381579.3_Missense_Mutation_p.R215C|TNNT3_ENST00000397304.2_Missense_Mutation_p.R204C|TNNT3_ENST00000360603.3_Missense_Mutation_p.R217C|TNNT3_ENST00000381589.3_Missense_Mutation_p.R221C|TNNT3_ENST00000381548.3_Missense_Mutation_p.R225C|TNNT3_ENST00000381549.3_Missense_Mutation_p.R215C|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000381561.4_Missense_Mutation_p.R226C|TNNT3_ENST00000446240.1_Missense_Mutation_p.R204C P45378 TNNT3_HUMAN troponin T type 3 (skeletal, fast) 234 muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction cytosol|troponin complex calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding p.R223C(1) breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1) 19 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826) GAAGCTGAAACGCCAGAAATA 0.612000 5 185 0 0 0.184627 0 0 CCDC158 339965 broad.mit.edu 37 4 77250102 77250102 + Silent SNP G G A rs138548683 by1000genomes TCGA-DB-5276-01A-01D-1468-08 TCGA-DB-5276-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6b7655-9307-4c8b-b1f6-f29a4dabd72c 289ad150-2e4f-4d98-9ebc-af05a0b95e7f g.chr4:77250102G>A ENST00000388914.3 - 21 3101 c.2949C>T c.(2947-2949)caC>caT p.H983H NM_001042784.1 NP_001036249.1 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 983 Ser-rich. breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 TGTCTCCTGCGTGTAATGTGA 0.433000 8 71 0 0 0.278610 0 0 HEATR4 399671 broad.mit.edu 37 14 73989793 73989793 + Nonsense_Mutation SNP G G A TCGA-DB-5276-01A-01D-1468-08 TCGA-DB-5276-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6b7655-9307-4c8b-b1f6-f29a4dabd72c 289ad150-2e4f-4d98-9ebc-af05a0b95e7f g.chr14:73989793G>A ENST00000553558.1 - 3 385 c.64C>T c.(64-66)Cga>Tga p.R22* HEATR4_ENST00000334988.2_Nonsense_Mutation_p.R22*|RP3-414A15.2_ENST00000555972.2_RNA|HEATR4_ENST00000560393.1_De_novo_Start_OutOfFrame NM_001220484.1 NP_001207413.1 HEAT repeat containing 4 breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719) CATCCCAGTCGTGGGGGCAGT 0.517000 10 51 0 0 0.335167 0 0 TRMT6 51605 broad.mit.edu 37 20 5925533 5925533 + Missense_Mutation SNP C C A TCGA-DB-5276-01A-01D-1468-08 TCGA-DB-5276-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6b7655-9307-4c8b-b1f6-f29a4dabd72c 289ad150-2e4f-4d98-9ebc-af05a0b95e7f g.chr20:5925533C>A ENST00000203001.2 - 3 414 c.284G>T c.(283-285)cGa>cTa p.R95L TRMT6_ENST00000453074.2_Intron|TRMT6_ENST00000473131.1_5'UTR NM_015939.3 NP_057023.2 Q9UJA5 TRM6_HUMAN tRNA methyltransferase 6 homolog (S. cerevisiae) 95 regulation of translational initiation|tRNA processing nucleus protein binding|translation initiation factor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1) 15 AACTATATTTCGATTATCAGT 0.333000 3 114 0.115264 0.123909 0.115264 1 0 ACTR10 55860 broad.mit.edu 37 14 58675824 58675824 + Splice_Site SNP A A G TCGA-DB-5276-01A-01D-1468-08 TCGA-DB-5276-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6b7655-9307-4c8b-b1f6-f29a4dabd72c 289ad150-2e4f-4d98-9ebc-af05a0b95e7f g.chr14:58675824A>G ENST00000254286.4 + 4 421 c.342_splice c.e4+1 p.E114_splice NM_018477.2 NP_060947.1 Q9NZ32 ARP10_HUMAN actin-related protein 10 homolog (S. cerevisiae) 114 cytoplasm central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 13 AAATATTTTGAGGTACCTGTC 0.333000 5 113 0 0 0.184627 0 0 FAM86JP 0 broad.mit.edu 37 3 125647396 125647396 + RNA SNP T T C TCGA-DB-5276-01A-01D-1468-08 TCGA-DB-5276-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6b7655-9307-4c8b-b1f6-f29a4dabd72c 289ad150-2e4f-4d98-9ebc-af05a0b95e7f g.chr3:125647396T>C ENST00000485843.1 + 0 541 NR_024251.1 TGTTTCCCTATGAAGAGCACT 0.502000 4 116 0 0 0.184627 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-DB-5276-01A-01D-1468-08 TCGA-DB-5276-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6b7655-9307-4c8b-b1f6-f29a4dabd72c 289ad150-2e4f-4d98-9ebc-af05a0b95e7f g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 4 67 0 0 0.150653 0 0 BSN 8927 broad.mit.edu 37 3 49691063 49691064 + Frame_Shift_Del DEL CT CT - TCGA-DB-5276-01A-01D-1468-08 TCGA-DB-5276-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6b7655-9307-4c8b-b1f6-f29a4dabd72c 289ad150-2e4f-4d98-9ebc-af05a0b95e7f g.chr3:49691063_49691064delCT ENST00000296452.4 + 5 4188_4189 c.4074_4075delCT c.(4072-4077)agctfs p.SS1358fs NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 1358 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) AGCTGCACAGCTCTCCTGCCTC 0.629 8 170 --- --- --- --- CPEB4 80315 broad.mit.edu 37 5 173316976 173316977 + Frame_Shift_Del DEL AA AA - TCGA-DB-5276-01A-01D-1468-08 TCGA-DB-5276-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6b7655-9307-4c8b-b1f6-f29a4dabd72c 289ad150-2e4f-4d98-9ebc-af05a0b95e7f g.chr5:173316976_173316977delAA ENST00000265085.5 + 1 1694_1695 c.240_241delAA c.(238-243)gcaafs p.AK80fs CPEB4_ENST00000334035.5_Frame_Shift_Del_p.AK80fs|CPEB4_ENST00000520867.1_Frame_Shift_Del_p.AK80fs|CPEB4_ENST00000519835.1_Frame_Shift_Del_p.AK80fs NM_030627.2 NP_085130.2 Q17RY0 CPEB4_HUMAN cytoplasmic polyadenylation element binding protein 4 80 nucleotide binding|RNA binding NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 20 Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) CAGAAAAAGCAAAAAGTCAGCA 0.490 39 165 --- --- --- --- TTYH3 80727 broad.mit.edu 37 7 2687233 2687234 + Frame_Shift_Ins INS - - G TCGA-DB-5276-01A-01D-1468-08 TCGA-DB-5276-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6b7655-9307-4c8b-b1f6-f29a4dabd72c 289ad150-2e4f-4d98-9ebc-af05a0b95e7f g.chr7:2687233_2687234insG ENST00000258796.7 + 4 792_793 c.587_588insG c.(586-588)ggtfs p.G196fs TTYH3_ENST00000407643.1_Frame_Shift_Ins_p.G196fs NM_025250.2 NP_079526.1 Q9C0H2 TTYH3_HUMAN tweety family member 3 196 chloride channel complex|plasma membrane chloride channel activity kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2) 17 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.04e-14) GTGTCGCTGGAGGTGCTGGCGG 0.673 2 4 --- --- --- --- SRRT 51593 broad.mit.edu 37 7 100482650 100482652 + In_Frame_Del DEL AGG AGG - TCGA-DB-5276-01A-01D-1468-08 TCGA-DB-5276-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6b7655-9307-4c8b-b1f6-f29a4dabd72c 289ad150-2e4f-4d98-9ebc-af05a0b95e7f g.chr7:100482650_100482652delAGG ENST00000388793.4 + 9 1368_1370 c.1148_1150delAGG c.(1147-1152)aag>a p.KE383del SRRT_ENST00000457580.2_In_Frame_Del_p.KE383del|SRRT_ENST00000347433.4_In_Frame_Del_p.KE383del|SRRT_ENST00000432932.1_In_Frame_Del_p.KE383del NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 383 Glu-rich. cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 GAGGAGGAGAAGGAGGAGGCCGG 0.581 15 342 --- --- --- --- C12orf40 283461 broad.mit.edu 37 12 40114882 40114885 + Frame_Shift_Del DEL ACAA ACAA - TCGA-DB-5276-01A-01D-1468-08 TCGA-DB-5276-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6b7655-9307-4c8b-b1f6-f29a4dabd72c 289ad150-2e4f-4d98-9ebc-af05a0b95e7f g.chr12:40114882_40114885delACAA ENST00000324616.5 + 13 1942_1945 c.1788_1791delACAA c.(1786-1791)atfs p.IQ596fs NM_001031748.2 NP_001026918.2 Q86WS4 CL040_HUMAN chromosome 12 open reading frame 40 596 breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2) 38 ATGCAGGGATACAAACAGAGAGTG 0.402 23 110 --- --- --- --- RP11-221N13.4 0 broad.mit.edu 37 12 66041233 66041233 + RNA DEL C C - TCGA-DB-5276-01A-01D-1468-08 TCGA-DB-5276-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6b7655-9307-4c8b-b1f6-f29a4dabd72c 289ad150-2e4f-4d98-9ebc-af05a0b95e7f g.chr12:66041233delC ENST00000545188.1 + 0 145 GTGCTATTGACCAGCCTAGAA 0.507 2 4 --- --- --- --- BAIAP3 8938 broad.mit.edu 37 16 1397309 1397310 + Frame_Shift_Ins INS - - T TCGA-DB-5276-01A-01D-1468-08 TCGA-DB-5276-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6b7655-9307-4c8b-b1f6-f29a4dabd72c 289ad150-2e4f-4d98-9ebc-af05a0b95e7f g.chr16:1397309_1397310insT ENST00000324385.5 + 29 3025_3026 c.2867_2868insT c.(2866-2868)attfs p.I956fs BAIAP3_ENST00000426824.3_Frame_Shift_Ins_p.I921fs|BAIAP3_ENST00000562208.1_Frame_Shift_Ins_p.I898fs|BAIAP3_ENST00000397489.1_Frame_Shift_Ins_p.I938fs|BAIAP3_ENST00000568887.1_Frame_Shift_Ins_p.I893fs|BAIAP3_ENST00000564213.1_3'UTR|BAIAP3_ENST00000421665.2_Frame_Shift_Ins_p.I885fs|BAIAP3_ENST00000397488.2_Frame_Shift_Ins_p.I938fs NM_003933.4 NP_003924.2 O94812 BAIP3_HUMAN BAI1-associated protein 3 956 MHD2. G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Hepatocellular(780;0.0893) GCCCTGGTCAGTTTTTTCCACG 0.639 12 60 --- --- --- --- ABCA17P 0 broad.mit.edu 37 16 2475097 2475098 + RNA DEL TC TC - TCGA-DB-5276-01A-01D-1468-08 TCGA-DB-5276-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6b7655-9307-4c8b-b1f6-f29a4dabd72c 289ad150-2e4f-4d98-9ebc-af05a0b95e7f g.chr16:2475097_2475098delTC ENST00000469908.1 + 0 3047 NR_003574.1 GGTAActctgtctctctctctc 0.559 3 4 --- --- --- --- ICT1 3396 broad.mit.edu 37 17 73016725 73016727 + In_Frame_Del DEL AAG AAG - TCGA-DB-5276-01A-01D-1468-08 TCGA-DB-5276-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6b7655-9307-4c8b-b1f6-f29a4dabd72c 289ad150-2e4f-4d98-9ebc-af05a0b95e7f g.chr17:73016725_73016727delAAG ENST00000301585.5 + 5 522_524 c.509_511delAAG c.(508-513)aaa>a p.KE170del NM_001545.1 NP_001536.1 Q14197 ICT1_HUMAN immature colon carcinoma transcript 1 170 mitochondrial translational termination mitochondrial large ribosomal subunit aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1) 6 all_lung(278;0.226) GAGCCAACAAAAGAAGATGTTAA 0.473 18 60 --- --- --- --- AC008984.2 0 broad.mit.edu 37 19 54843564 54843565 + RNA INS - - C rs144647366 by1000genomes TCGA-DB-5276-01A-01D-1468-08 TCGA-DB-5276-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6b7655-9307-4c8b-b1f6-f29a4dabd72c 289ad150-2e4f-4d98-9ebc-af05a0b95e7f g.chr19:54843564_54843565insC ENST00000507363.1 - 0 430 CGGCTGCTCCTCCCCAGGCTGC 0.723 4 3 --- --- --- --- BCOR 54880 broad.mit.edu 37 X 39922031 39922032 + Frame_Shift_Del DEL CT CT - TCGA-DB-5276-01A-01D-1468-08 TCGA-DB-5276-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6b7655-9307-4c8b-b1f6-f29a4dabd72c 289ad150-2e4f-4d98-9ebc-af05a0b95e7f g.chrX:39922031_39922032delCT ENST00000342274.4 - 9 4400_4401 c.4038_4039delAG c.(4036-4041)acggfs p.TG1346fs BCOR_ENST00000378463.1_Frame_Shift_Del_p.TG223fs|BCOR_ENST00000378444.4_Frame_Shift_Del_p.TG1380fs|BCOR_ENST00000397354.3_Frame_Shift_Del_p.TG1346fs|BCOR_ENST00000378455.4_Frame_Shift_Del_p.TG1328fs NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 1380 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 TAGTATTCCCCTGTCAGTGGCA 0.579 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 14 27 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76939181 76939184 + Frame_Shift_Del DEL AGGA AGGA - TCGA-DB-5276-01A-01D-1468-08 TCGA-DB-5276-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6b7655-9307-4c8b-b1f6-f29a4dabd72c 289ad150-2e4f-4d98-9ebc-af05a0b95e7f g.chrX:76939181_76939184delAGGA ENST00000373344.5 - 9 1778_1781 c.1564_1567delTCCT c.(1564-1569)cafs p.SS522fs ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.SS484fs NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 522 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) TCTGGAACTGAGGAAGGAACAGAC 0.407 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 72 204 --- --- --- ---