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 MAMLD1 10046 broad.mit.edu 37 X 149671609 149671609 + Missense_Mutation SNP G G T TCGA-FG-A4MT-02A-11D-A29Q-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 185a3a5d-af6b-4001-8b41-708e61b46cda 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chrX:149671609G>T ENST00000370401.2 + 6 2416 c.2106G>T c.(2104-2106)caG>caT p.Q702H MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q677H|MAMLD1_ENST00000432680.2_Intron|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q702H|MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q142H Q13495 MAMD1_HUMAN mastermind-like domain containing 1 702 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) TCGGGCGACAGCCCCCGTCCT 0.612000 10 300 2.17888e-05 2.26432e-05 1 1 0 LAMA3 3909 broad.mit.edu 37 18 21426422 21426422 + Missense_Mutation SNP G G A TCGA-FG-A4MT-02A-11D-A29Q-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 185a3a5d-af6b-4001-8b41-708e61b46cda 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr18:21426422G>A ENST00000313654.9 + 31 4122 c.3881G>A c.(3880-3882)cGg>cAg p.R1294Q LAMA3_ENST00000399516.3_Missense_Mutation_p.R1294Q NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 1294 Domain III B.|Laminin EGF-like 9. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTCATCGGGCGGCAGTGCACC 0.652000 36 69 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145296373 145296373 + Missense_Mutation SNP G G T rs3969711 TCGA-FG-A4MT-02A-11D-A29Q-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 185a3a5d-af6b-4001-8b41-708e61b46cda 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr1:145296373G>T ENST00000342960.5 + 3 330 c.295G>T c.(295-297)Gtt>Ttt p.V99F RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 99 p.V99F(1) 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) TAAAGTCCTAGTTCACTCTCA 0.473000 6 251 0.00116845 0.00116845 1 1 0 TTN 7273 broad.mit.edu 37 2 179481731 179481731 + Missense_Mutation SNP G G A TCGA-FG-A4MT-02A-11D-A29Q-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 185a3a5d-af6b-4001-8b41-708e61b46cda 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr2:179481731G>A ENST00000589042.1 - 256 48109 c.47885C>T c.(47884-47886)aCa>aTa p.T15962I TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T13394I|TTN_ENST00000460472.2_Missense_Mutation_p.T6897I|TTN_ENST00000342175.6_Missense_Mutation_p.T7089I|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T14321I|TTN_ENST00000359218.5_Missense_Mutation_p.T7022I|TTN-AS1_ENST00000590807.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14321 Fibronectin type-III 16. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TAAATCCATTGTTGGTTCAAC 0.408000 56 101 0 0 1 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32726774 32726774 + Missense_Mutation SNP C C T TCGA-FG-A4MT-02A-11D-A29Q-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 185a3a5d-af6b-4001-8b41-708e61b46cda 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr6:32726774C>T ENST00000435145.2 - 3 560 c.499G>A c.(499-501)Gcc>Acc p.A167T HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.A167T|HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.A167T Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 167 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex p.A167T(1) endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 ACAACACCGGCTGTCTCCTCC 0.542000 9 68 0 0 1 0 0 AC005609.1 0 broad.mit.edu 37 5 140242828 140242828 + Missense_Mutation SNP C C T TCGA-FG-A4MT-02A-11D-A29Q-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 185a3a5d-af6b-4001-8b41-708e61b46cda 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr5:140242828C>T ENST00000502505.1 - 1 396 c.148G>A c.(148-150)Gcc>Acc p.A50T PCDHA14_ENST00000562220.1_RNA|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron CGGGCTTTGGCGGGCGTCGAG 0.652000 4 66 0 0 1 0 0 OR6F1 343169 broad.mit.edu 37 1 247875306 247875306 + Nonsense_Mutation SNP C C T TCGA-FG-A4MT-02A-11D-A29Q-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 185a3a5d-af6b-4001-8b41-708e61b46cda 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr1:247875306C>T ENST00000302084.2 - 1 799 c.752G>A c.(751-753)tGg>tAg p.W251* RP11-634B7.4_ENST00000449298.1_RNA NM_001005286.1 NP_001005286.1 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, member 1 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) GGACCCATACCAAATGAGCAC 0.532000 43 99 0 0 1 0 0 ACVRL1 94 broad.mit.edu 37 12 52309882 52309882 + Missense_Mutation SNP G G A TCGA-FG-A4MT-02A-11D-A29Q-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 185a3a5d-af6b-4001-8b41-708e61b46cda 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr12:52309882G>A ENST00000550683.1 + 7 1254 c.1153G>A c.(1153-1155)Ggc>Agc p.G385S ACVRL1_ENST00000388922.4_Missense_Mutation_p.G371S|ACVRL1_ENST00000419526.2_Missense_Mutation_p.G197S NM_001077401.1 NP_001070869.1 P37023 ACVL1_HUMAN activin A receptor type II-like 1 371 Protein kinase. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells cell surface|integral to plasma membrane activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(357;0.0991) Adenosine triphosphate(DB00171) CCCGAGAGTGGGCACCAAGCG 0.617000 4 116 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 129566312 129566312 + Missense_Mutation SNP T T G TCGA-FG-A4MT-02A-11D-A29Q-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 185a3a5d-af6b-4001-8b41-708e61b46cda 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr12:129566312T>G ENST00000422113.2 - 7 2241 c.1915A>C c.(1915-1917)Acc>Ccc p.T639P TMEM132D_ENST00000389441.4_Missense_Mutation_p.T177P NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 639 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) ACCTGAATGGTGGTCATCCCA 0.488000 10 46 0 0 1 0 0 EMC3 55831 broad.mit.edu 37 3 10012272 10012272 + Missense_Mutation SNP C C G TCGA-FG-A4MT-02A-11D-A29Q-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 185a3a5d-af6b-4001-8b41-708e61b46cda 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr3:10012272C>G ENST00000245046.2 - 6 1026 c.568G>C c.(568-570)Gat>Cat p.D190H EMC3_ENST00000497557.1_5'UTR NM_018447.2 NP_060917.1 ER membrane protein complex subunit 3 TTACCATTATCTTGGCCCAGA 0.408000 7 139 0 0 1 0 0 INPP4B 8821 broad.mit.edu 37 4 143191848 143191848 + Missense_Mutation SNP C C T TCGA-FG-A4MT-02A-11D-A29Q-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 185a3a5d-af6b-4001-8b41-708e61b46cda 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr4:143191848C>T ENST00000513000.1 - 11 1016 c.583G>A c.(583-585)Gac>Aac p.D195N INPP4B_ENST00000308502.4_Missense_Mutation_p.D195N|INPP4B_ENST00000262992.4_Missense_Mutation_p.D195N|INPP4B_ENST00000508116.1_Missense_Mutation_p.D195N|INPP4B_ENST00000509777.1_Missense_Mutation_p.D195N NM_003866.2 NP_003857.2 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 105kDa 195 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 all_hematologic(180;0.158) GTGATGTGGTCGGCTTCCCCA 0.443000 38 74 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-FG-A4MT-02A-11D-A29Q-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 185a3a5d-af6b-4001-8b41-708e61b46cda 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 5 99 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578403 7578403 + Missense_Mutation SNP C C A TCGA-FG-A4MT-02A-11D-A29Q-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 185a3a5d-af6b-4001-8b41-708e61b46cda 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr17:7578403C>A ENST00000420246.2 - 5 659 c.527G>T c.(526-528)tGc>tTc p.C176F TP53_ENST00000269305.4_Missense_Mutation_p.C176F|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.C176F|TP53_ENST00000445888.2_Missense_Mutation_p.C176F|TP53_ENST00000413465.2_Missense_Mutation_p.C176F|TP53_ENST00000455263.2_Missense_Mutation_p.C176F NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 176 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; 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.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(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) ATGGTGGGGGCAGCGCCTCAC 0.652000 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) 33 43 2.85442e-18 3.02568e-18 1 1 0 ARHGAP5 394 broad.mit.edu 37 14 32562835 32562835 + Missense_Mutation SNP C C T TCGA-FG-A4MT-02A-11D-A29Q-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 185a3a5d-af6b-4001-8b41-708e61b46cda 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr14:32562835C>T ENST00000345122.3 + 2 3275 c.2960C>T c.(2959-2961)gCa>gTa p.A987V ARHGAP5_ENST00000432921.1_Missense_Mutation_p.A987V|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.A987V|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.A987V NM_001030055.1 NP_001025226.1 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 987 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) GACACAGAAGCACCACCTCCT 0.413000 11 119 0 0 1 0 0 DISP2 85455 broad.mit.edu 37 15 40659678 40659678 + Silent SNP G G A TCGA-FG-A4MT-02A-11D-A29Q-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 185a3a5d-af6b-4001-8b41-708e61b46cda 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr15:40659678G>A ENST00000267889.3 + 8 1452 c.1365G>A c.(1363-1365)cgG>cgA p.R455R NM_033510.1 NP_277045.1 A7MBM2 DISP2_HUMAN dispatched homolog 2 (Drosophila) 455 smoothened signaling pathway integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4) 30 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) ACCTGGACCGGCTGGCCACCC 0.617000 5 368 0 0 1 0 0 HS6ST1 9394 broad.mit.edu 37 2 129026421 129026421 + Missense_Mutation SNP A A G TCGA-FG-A4MT-02A-11D-A29Q-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 185a3a5d-af6b-4001-8b41-708e61b46cda 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr2:129026421A>G ENST00000259241.6 - 2 564 c.551T>C c.(550-552)cTa>cCa p.L184P NM_004807.2 NP_004798.3 O60243 H6ST1_HUMAN heparan sulfate 6-O-sulfotransferase 1 184 heparan sulfate proteoglycan biosynthetic process, enzymatic modification integral to plasma membrane sulfotransferase activity endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) GGGGTCTCGTAGCAGGGTGAT 0.622000 7 74 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-FG-A4MT-02A-11D-A29Q-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 185a3a5d-af6b-4001-8b41-708e61b46cda 8c0d356e-7bf2-4c23-be12-acf5907f9be7 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 25 54 0 0 1 0 0 HELZ2 85441 broad.mit.edu 37 20 62196232 62196232 + Missense_Mutation SNP T T C TCGA-FG-A4MT-02A-11D-A29Q-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 185a3a5d-af6b-4001-8b41-708e61b46cda 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr20:62196232T>C ENST00000467148.1 - 8 4012 c.3943A>G c.(3943-3945)Acc>Gcc p.T1315A HELZ2_ENST00000427522.2_Missense_Mutation_p.T746A NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator TTGGTGATGGTGGCCTGGTCC 0.672000 10 109 0 0 1 0 0 MLH1 4292 broad.mit.edu 37 3 37045902 37045902 + Missense_Mutation SNP G G A TCGA-FG-A4MT-02A-11D-A29Q-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 185a3a5d-af6b-4001-8b41-708e61b46cda 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr3:37045902G>A ENST00000231790.2 + 4 533 c.317G>A c.(316-318)aGc>aAc p.S106N MLH1_ENST00000492474.1_3'UTR|MLH1_ENST00000539477.1_5'UTR|MLH1_ENST00000536378.1_5'UTR|MLH1_ENST00000458205.2_5'UTR|MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000435176.1_Missense_Mutation_p.S8N NM_000249.3|NM_001258273.1 NP_000240.1|NP_001245202.1 P40692 MLH1_HUMAN mutL homolog 1 106 S -> R (in gastric cancer; uncertain pathogenicity). mismatch repair|somatic hypermutation of immunoglobulin genes chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 127 GCTTTGGCCAGCATAAGCCAT 0.408000 1 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian, CNS""" """colorectal, endometrial, ovarian, CNS""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 4 97 0 0 1 0 0 MPPED1 758 broad.mit.edu 37 22 43870673 43870673 + Missense_Mutation SNP A A G TCGA-FG-A4MT-02A-11D-A29Q-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 185a3a5d-af6b-4001-8b41-708e61b46cda 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr22:43870673A>G ENST00000417669.1 + 4 908 c.464A>G c.(463-465)gAc>gGc p.D155G MPPED1_ENST00000542779.1_Missense_Mutation_p.D155G|MPPED1_ENST00000439548.1_5'UTR|MPPED1_ENST00000443721.1_Missense_Mutation_p.D155G|MPPED1_ENST00000414469.2_Missense_Mutation_p.D49G|MPPED1_ENST00000538182.1_Missense_Mutation_p.D188G O15442 MPPD1_HUMAN metallophosphoesterase domain containing 1 155 hydrolase activity endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1) 13 all_neural(38;0.0244)|Ovarian(80;0.0694) CTGACCTTTGACCAGGAGTTC 0.552000 50 119 0 0 1 0 0 TRH 7200 broad.mit.edu 37 3 129695840 129695840 + Silent SNP G G A TCGA-FG-A4MT-02A-11D-A29Q-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 185a3a5d-af6b-4001-8b41-708e61b46cda 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr3:129695840G>A ENST00000302649.3 + 3 1037 c.510G>A c.(508-510)gaG>gaA p.E170E TRH_ENST00000507066.1_Silent_p.E166E NM_007117.3 NP_009048.1 P20396 TRH_HUMAN thyrotropin-releasing hormone 170 cell-cell signaling|hormone-mediated signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|thyrotropin-releasing hormone activity p.E170E(1) NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1) 14 Gggaagaagaggaggaggagg 0.642000 4 99 0 0 1 0 0 DUSP5 1847 broad.mit.edu 37 10 112269864 112269864 + Missense_Mutation SNP A A G TCGA-FG-A4MT-02A-11D-A29Q-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 185a3a5d-af6b-4001-8b41-708e61b46cda 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr10:112269864A>G ENST00000369583.3 + 4 1119 c.835A>G c.(835-837)Atg>Gtg p.M279V DUSP5_ENST00000468749.1_3'UTR NM_004419.3 NP_004410.3 Q16690 DUS5_HUMAN dual specificity phosphatase 5 279 Tyrosine-protein phosphatase. endoderm formation|inactivation of MAPK activity nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 13 Breast(234;0.0848) Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12) GGCTTACCTTATGAAGACCAA 0.552000 24 54 0 0 1 0 0 ZNF503 84858 broad.mit.edu 37 10 77159074 77159074 + Silent SNP C C T TCGA-FG-A4MT-02A-11D-A29Q-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 185a3a5d-af6b-4001-8b41-708e61b46cda 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr10:77159074C>T ENST00000372524.4 - 2 1860 c.1374G>A c.(1372-1374)gcG>gcA p.A458A ZNF503_ENST00000535216.1_Silent_p.A458A|RP11-399K21.11_ENST00000418818.2_lincRNA NM_032772.4 NP_116161.2 Q96F45 ZN503_HUMAN zinc finger protein 503 458 Ala-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding lung(4)|ovary(1)|skin(1) 6 all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088) GCGCCGCAGCCGCAGCAGCCG 0.701000 12 18 0 0 1 0 0 PGAM4 441531 broad.mit.edu 37 X 77224932 77224932 + Missense_Mutation SNP C C G TCGA-FG-A4MT-02A-11D-A29Q-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 185a3a5d-af6b-4001-8b41-708e61b46cda 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chrX:77224932C>G ENST00000458128.1 - 1 203 c.204G>C c.(202-204)tgG>tgC p.W68C ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000350425.4_Intron NM_001029891.2 NP_001025062.1 Q8N0Y7 PGAM4_HUMAN phosphoglycerate mutase family member 4 68 glycolysis 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity endometrium(2)|lung(4) 6 CTAGCACTGTCCAGAGGGTCC 0.577000 7 234 0 0 1 0 0 MN1 4330 broad.mit.edu 37 22 28194072 28194072 + Silent SNP G G A TCGA-FG-A4MT-02A-11D-A29Q-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 185a3a5d-af6b-4001-8b41-708e61b46cda 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr22:28194072G>A ENST00000302326.4 - 1 3414 c.2460C>T c.(2458-2460)ttC>ttT p.F820F NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 820 binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 AGCTCTGGCCGAACAGGTTGT 0.632000 T ETV6 """AML, meningioma""" 4 136 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49418711 49418711 + Missense_Mutation SNP A A G TCGA-FG-A4MT-02A-11D-A29Q-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 185a3a5d-af6b-4001-8b41-708e61b46cda 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr12:49418711A>G ENST00000301067.7 - 49 15802 c.15803T>C c.(15802-15804)aTt>aCt p.I5268T NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CACAGGCTCAATGATGCGATT 0.557000 6 9 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7580531 7580531 + Missense_Mutation SNP A A T TCGA-FG-A4MT-02A-11D-A29Q-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 185a3a5d-af6b-4001-8b41-708e61b46cda 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr6:7580531A>T ENST00000379802.3 + 23 4449 c.4108A>T c.(4108-4110)Atc>Ttc p.I1370F DSP_ENST00000418664.2_Intron NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1370 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TGAGACCGAGATCAACATCAC 0.463000 51 84 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628283 29628283 + Silent SNP G G C TCGA-FG-A4MT-02A-11D-A29Q-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 185a3a5d-af6b-4001-8b41-708e61b46cda 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr20:29628283G>C ENST00000278882.3 + 6 665 c.285G>C c.(283-285)ggG>ggC p.G95G FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G p.G95G(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGAAGCAGGGGACATAGAAG 0.378000 4 104 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9084692 9084692 + Missense_Mutation SNP T T C TCGA-FG-A4MT-02A-11D-A29Q-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 185a3a5d-af6b-4001-8b41-708e61b46cda 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr19:9084692T>C ENST00000397910.4 - 1 7326 c.7123A>G c.(7123-7125)Aac>Gac p.N2375D NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2375 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ATGGAGGTGTTGATCAGATCA 0.438000 7 62 0 0 1 0 0 RP11-1166P10.6 0 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-FG-A4MT-02A-11D-A29Q-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 185a3a5d-af6b-4001-8b41-708e61b46cda 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 4 85 0 0 1 0 0 GABBR2 9568 broad.mit.edu 37 9 101340344 101340344 + Missense_Mutation SNP G G A TCGA-FG-A4MT-02A-11D-A29Q-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 185a3a5d-af6b-4001-8b41-708e61b46cda 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr9:101340344G>A ENST00000259455.2 - 2 791 c.332C>T c.(331-333)gCa>gTa p.A111V NM_005458.7 NP_005449.5 O75899 GABR2_HUMAN gamma-aminobutyric acid (GABA) B receptor, 2 111 negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity NOTCH1_ENST00000277541/GABBR2(2) breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 49 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) CAACCCTTTTGCGTTGTCGCA 0.468000 5 72 0 0 1 0 0 IGHV4OR15-8 0 broad.mit.edu 37 15 22473333 22473333 + RNA SNP A A G TCGA-FG-A4MT-02A-11D-A29Q-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 185a3a5d-af6b-4001-8b41-708e61b46cda 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr15:22473333A>G ENST00000557788.2 - 0 20 CCAGGAGGAGAAAGAACCACA 0.512000 5 122 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578412 7578412 + Missense_Mutation SNP A A G TCGA-FG-A4MT-02A-11D-A29Q-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 185a3a5d-af6b-4001-8b41-708e61b46cda 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr17:7578412A>G ENST00000420246.2 - 5 650 c.518T>C c.(517-519)gTg>gCg p.V173A TP53_ENST00000269305.4_Missense_Mutation_p.V173A|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.V173A|TP53_ENST00000445888.2_Missense_Mutation_p.V173A|TP53_ENST00000413465.2_Missense_Mutation_p.V173A|TP53_ENST00000455263.2_Missense_Mutation_p.V173A NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 173 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). 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.V173A(12)|p.0?(8)|p.V173G(6)|p.V173fs*7(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V173E(1)|p.V41fs*7(1)|p.H168fs*69(1)|p.E171fs*1(1)|p.V172_R174delVVR(1)|p.P151_V173del23(1)|p.V173fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V173W(1)|p.S149fs*72(1)|p.V80fs*7(1)|p.V172_E180delVVRRCPHHE(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) GCAGCGCCTCACAACCTCCGT 0.662000 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) 25 54 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98508848 98508848 + Missense_Mutation SNP C C T TCGA-FG-A4MT-02A-11D-A29Q-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 185a3a5d-af6b-4001-8b41-708e61b46cda 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr7:98508848C>T ENST00000359863.4 + 17 2170 c.1961C>T c.(1960-1962)aCg>aTg p.T654M TRRAP_ENST00000446306.3_Missense_Mutation_p.T653M|TRRAP_ENST00000355540.3_Missense_Mutation_p.T654M NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 654 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TTCCAAACTACGGTCCCTTAT 0.368000 17 47 0 0 1 0 0 C11orf53 341032 broad.mit.edu 37 11 111154988 111154988 + Silent SNP C C T rs143823066 byFrequency TCGA-FG-A4MT-02A-11D-A29Q-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 185a3a5d-af6b-4001-8b41-708e61b46cda 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr11:111154988C>T ENST00000280325.4 + 3 342 c.195C>T c.(193-195)taC>taT p.Y65Y NM_198498.1 NP_940900.1 Q8IXP5 CK053_HUMAN chromosome 11 open reading frame 53 65 endometrium(1)|large_intestine(2)|lung(3)|skin(2) 8 all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147) Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507) AGGAGCCCTACGGAGACTACC 0.697000 10 144 0 0 1 0 0 RP11-69E11.4 0 broad.mit.edu 37 1 40011581 40011581 + RNA DEL G G - TCGA-FG-A4MT-02A-11D-A29Q-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 185a3a5d-af6b-4001-8b41-708e61b46cda 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr1:40011581delG ENST00000440190.1 - 0 278 AAGTAGGAGTGCGAGTATTCT 0.537 2 4 --- --- --- --- ANKRD20A8P 0 broad.mit.edu 37 2 95513688 95513689 + RNA INS - - TA TCGA-FG-A4MT-02A-11D-A29Q-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 185a3a5d-af6b-4001-8b41-708e61b46cda 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr2:95513688_95513689insTA ENST00000432432.2 - 0 850 NR_040113.1 CTCACCTAATGTATAAGATGGA 0.327 7 122 --- --- --- --- XPC 7508 broad.mit.edu 37 3 14219966 14219968 + Splice_Site DEL CCT CCT - rs72561774 TCGA-FG-A4MT-02A-11D-A29Q-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 185a3a5d-af6b-4001-8b41-708e61b46cda 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr3:14219966_14219968delCCT ENST00000285021.7 - 1 315_317 c.103_splice c.e1+1 p.ED34_splice LSM3_ENST00000306024.3_5'UTR|XPC_ENST00000449060.2_Splice_Site_p.ED34_splice NM_001145769.1|NM_004628.4 NP_001139241.1|NP_004619.3 Q01831 XPC_HUMAN xeroderma pigmentosum, complementation group C 34 Glu-rich (acidic).|Poly-Glu. nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal cytoplasm|nucleoplasm|XPC complex bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding p.E34delE(1) NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TCGCTCTCACCCTCCTCCTCCTC 0.734 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 8 105 --- --- --- --- MAGI1 9223 broad.mit.edu 37 3 65372850 65372851 + Frame_Shift_Del DEL TC TC - TCGA-FG-A4MT-02A-11D-A29Q-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 185a3a5d-af6b-4001-8b41-708e61b46cda 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr3:65372850_65372851delTC ENST00000330909.8 - 15 2466_2467 c.2467_2468delGA c.(2467-2469)afs p.E823fs MAGI1_ENST00000402939.2_Intron|MAGI1_ENST00000483466.1_Frame_Shift_Del_p.E823fs|MAGI1_ENST00000497477.2_Intron NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 823 PDZ 4. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) GGAATTGATTTCTCTCTCTCTC 0.401 7 62 --- --- --- --- SDHAP1 0 broad.mit.edu 37 3 195713385 195713386 + RNA INS - - T TCGA-FG-A4MT-02A-11D-A29Q-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 185a3a5d-af6b-4001-8b41-708e61b46cda 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr3:195713385_195713386insT ENST00000427841.1 - 0 176 NR_003264.2 AAAGCATGAACTTACGGAATCT 0.401 14 12 --- --- --- --- SFRP1 6422 broad.mit.edu 37 8 41166638 41166640 + In_Frame_Del DEL GCT GCT - rs3055861 TCGA-FG-A4MT-02A-11D-A29Q-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 185a3a5d-af6b-4001-8b41-708e61b46cda 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr8:41166638_41166640delGCT ENST00000220772.3 - 1 376_378 c.39_41delAGC c.(37-42)gcc>gc p.AA13del NM_003012.4 NP_003003.3 Q8N474 SFRP1_HUMAN secreted frizzled-related protein 1 13 brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1) 7 Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211) all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559) BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174) CACGCCCAGGGCTGCCCCGCGGC 0.764 8 10 --- --- --- --- PTX4 390667 broad.mit.edu 37 16 1537455 1537455 + Frame_Shift_Del DEL T T - rs112830794 by1000genomes TCGA-FG-A4MT-02A-11D-A29Q-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 185a3a5d-af6b-4001-8b41-708e61b46cda 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr16:1537455delT ENST00000447419.2 - 2 683 c.658delA c.(658-660)ggfs p.R220fs PTX4_ENST00000293922.1_Frame_Shift_Del_p.R215fs|PTX4_ENST00000440447.2_Intron Q96A99 PTX4_HUMAN pentraxin 4, long 220 R -> G (in dbSNP:rs2667673). extracellular region metal ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 GGGGGGCCCCTGTGCTCAGAG 0.692 7 88 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-FG-A4MT-02A-11D-A29Q-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 185a3a5d-af6b-4001-8b41-708e61b46cda 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-516)gaafs p.E172fs IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs P24001 IL32_HUMAN interleukin 32 218 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CCACGGGGGGACAAGGAGGAGC 0.574 8 369 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72822564 72822566 + In_Frame_Del DEL TGC TGC - TCGA-FG-A4MT-02A-11D-A29Q-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 185a3a5d-af6b-4001-8b41-708e61b46cda 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr16:72822564_72822566delTGC ENST00000268489.5 - 10 10281_10283 c.9609_9611delGCA c.(9607-9612)caa>ca p.QQ3203del ZFHX3_ENST00000397992.5_In_Frame_Del_p.QQ2289del NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3203 Poly-Gln. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) cacctgtggttgctgctgctgct 0.650 7 262 --- --- --- --- TRIM47 91107 broad.mit.edu 37 17 73874140 73874140 + Frame_Shift_Del DEL C C - TCGA-FG-A4MT-02A-11D-A29Q-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 185a3a5d-af6b-4001-8b41-708e61b46cda 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr17:73874140delC ENST00000254816.2 - 1 516 c.490delG c.(490-492)ccfs p.A164fs RP11-552F3.9_ENST00000586076.1_RNA|TRIM47_ENST00000587339.1_5'UTR NM_033452.2 NP_258411.2 Q96LD4 TRI47_HUMAN tripartite motif containing 47 164 cytoplasm|nucleus zinc ion binding autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 22 Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154) CCGCGGAGGGCGGGGCTGCGC 0.791 2 4 --- --- --- --- SPIB 6689 broad.mit.edu 37 19 50931348 50931348 + Frame_Shift_Del DEL G G - TCGA-FG-A4MT-02A-11D-A29Q-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 185a3a5d-af6b-4001-8b41-708e61b46cda 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr19:50931348delG ENST00000595883.1 + 6 569 c.544delG c.(544-546)ggfs p.G182fs SPIB_ENST00000439922.2_Frame_Shift_Del_p.G91fs|SPIB_ENST00000270632.7_3'UTR|SPIB_ENST00000597855.1_3'UTR|SPIB_ENST00000596074.1_3'UTR NM_001243999.1|NM_001244000.1|NM_003121.4 NP_001230928.1|NP_001230929.1|NP_003112.2 Q01892 SPIB_HUMAN Spi-B transcription factor (Spi-1/PU.1 related) 182 regulation of transcription from RNA polymerase II promoter cytoplasm|microtubule cytoskeleton|nucleus sequence-specific DNA binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8) 14 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) ACTGACGCGCGGGGACATGCG 0.682 2 4 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76855014 76855017 + Frame_Shift_Del DEL CTAT CTAT - TCGA-FG-A4MT-02A-11D-A29Q-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 185a3a5d-af6b-4001-8b41-708e61b46cda 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chrX:76855014_76855017delCTAT ENST00000373344.5 - 25 6033_6036 c.5819_5822delATAG c.(5818-5823)gtfs p.DS1940fs ATRX_ENST00000395603.3_Frame_Shift_Del_p.DS1902fs|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1940 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.D1940fs*14(1)|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) ACTTGAGCTACTATCTTTTTTCCC 0.363 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 126 337 --- --- --- ---