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 KAT6A 7994 broad.mit.edu 37 8 41790659 41790659 + Silent SNP T T G TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr8:41790659T>G ENST00000396930.3 - 18 5622 c.5079A>C c.(5077-5079)ccA>ccC p.P1693P KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1693 Gln/Pro-rich. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ggggagggggtgggggtggag 0.627000 7 8 0 0 1 0 0 NUCB1 4924 broad.mit.edu 37 19 49422370 49422370 + Silent SNP G G T TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr19:49422370G>T ENST00000405315.4 + 9 1234 c.900G>T c.(898-900)gtG>gtT p.V300V NUCB1_ENST00000263273.5_Silent_p.V300V|NUCB1_ENST00000485798.1_Intron|NUCB1_ENST00000407032.1_Silent_p.V300V NM_006184.5 NP_006175.2 Q02818 NUCB1_HUMAN nucleobindin 1 300 Binds to GNAI2 and GNAI3 (By similarity).|EF-hand 2. HV -> QL (in Ref. 1; AAA36383). ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton calcium ion binding|DNA binding cervix(1)|endometrium(4)|large_intestine(4)|lung(8) 17 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244) GGGAGCATGTGATGAAGAATG 0.622000 4 39 0.000602214 0.000612251 1 1 0 SCTR 6344 broad.mit.edu 37 2 120197767 120197767 + Missense_Mutation SNP C C T TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr2:120197767C>T ENST00000019103.5 - 13 1516 c.1249G>A c.(1249-1251)Gcc>Acc p.A417T NM_002980.2 NP_002971.2 P47872 SCTR_HUMAN secretin receptor 417 digestion|excretion integral to plasma membrane secretin receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3) 19 Secretin(DB00021) CTGAAGGAGGCCACGGGGTGC 0.637000 12 26 0 0 1 0 0 ZNF394 84124 broad.mit.edu 37 7 99091497 99091497 + Silent SNP G G A TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr7:99091497G>A ENST00000337673.6 - 3 1544 c.1341C>T c.(1339-1341)tgC>tgT p.C447C ZNF394_ENST00000426306.2_3'UTR|ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron NM_032164.2 NP_115540.2 Q53GI3 ZN394_HUMAN zinc finger protein 394 447 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1) 16 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) AGGTTTCCCCGCATTCCTCAC 0.428000 4 133 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 6 90 0 0 1 0 0 FBXO30 84085 broad.mit.edu 37 6 146126348 146126348 + Silent SNP A A G TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr6:146126348A>G ENST00000237281.4 - 2 1360 c.1194T>C c.(1192-1194)tcT>tcC p.S398S NM_032145.4 NP_115521.3 Q8TB52 FBX30_HUMAN F-box protein 30 398 F-box. ubiquitin-protein ligase activity|zinc ion binding NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Ovarian(120;0.0776) OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149) CCTTTGGTTTAGACCAACATG 0.388000 48 91 0 0 1 0 0 PLEKHO1 51177 broad.mit.edu 37 1 150131105 150131105 + Missense_Mutation SNP G G A TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr1:150131105G>A ENST00000369124.4 + 6 895 c.617G>A c.(616-618)aGc>aAc p.S206N PLEKHO1_ENST00000479194.1_3'UTR|PLEKHO1_ENST00000369126.1_Missense_Mutation_p.S23N|PLEKHO1_ENST00000025469.6_Missense_Mutation_p.S172N NM_016274.4 NP_057358.2 Q53GL0 PKHO1_HUMAN pleckstrin homology domain containing, family O member 1 206 Interaction with ATM, CKIP, IFP35 and NMI. cytoplasm|nucleus|plasma membrane breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2) 22 Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) TGTGCTGAGAGCTTTCGGGTT 0.617000 7 93 0 0 1 0 0 PTK2B 2185 broad.mit.edu 37 8 27279873 27279873 + Missense_Mutation SNP C C T TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr8:27279873C>T ENST00000397501.1 + 10 1332 c.524C>T c.(523-525)gCc>gTc p.A175V PTK2B_ENST00000517339.1_Missense_Mutation_p.A175V|PTK2B_ENST00000420218.2_Missense_Mutation_p.A175V|PTK2B_ENST00000346049.5_Missense_Mutation_p.A175V|PTK2B_ENST00000338238.4_Missense_Mutation_p.A175V|PTK2B_ENST00000544172.1_Missense_Mutation_p.A175V NM_173174.2 NP_775266.1 Q14289 FAK2_HUMAN protein tyrosine kinase 2 beta 175 FERM. apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) GAGGGCATGGCCCTGCAGCTG 0.652000 3 39 0 0 1 0 0 DCHS1 8642 broad.mit.edu 37 11 6654108 6654108 + Missense_Mutation SNP G G A rs139750490 TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr11:6654108G>A ENST00000299441.3 - 6 3046 c.2635C>T c.(2635-2637)Cgg>Tgg p.R879W RP11-732A19.6_ENST00000526633.1_RNA NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 879 Cadherin 8. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACACGCACCCGAGCTACAGCG 0.597000 7 38 0 0 1 0 0 IGSF22 283284 broad.mit.edu 37 11 18739488 18739488 + Silent SNP G G A TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr11:18739488G>A ENST00000513874.1 - 9 1102 c.963C>T c.(961-963)ctC>ctT p.L321L RP11-1081L13.4_ENST00000527285.1_RNA NM_173588.3 NP_775859.3 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 321 Ig-like 2. NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3) 56 CCAGCACTGTGAGCTCTGCAC 0.542000 15 69 0 0 1 0 0 TRGV2 0 broad.mit.edu 37 7 38402510 38402510 + RNA SNP T T A rs3999869 TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr7:38402510T>A ENST00000426402.2 - 0 498 CATTTTCAATTAGATTTCGCA 0.463000 4 53 0 0 1 0 0 HSPA8 3312 broad.mit.edu 37 11 122931899 122931899 + Missense_Mutation SNP G G A TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr11:122931899G>A ENST00000534624.1 - 2 410 c.134C>T c.(133-135)aCg>aTg p.T45M HSPA8_ENST00000526110.1_Missense_Mutation_p.T45M|HSPA8_ENST00000533540.1_Missense_Mutation_p.T45M|HSPA8_ENST00000532636.1_Missense_Mutation_p.T45M|HSPA8_ENST00000227378.3_Missense_Mutation_p.T45M|HSPA8_ENST00000453788.2_Missense_Mutation_p.T45M NM_006597.4 NP_006588.1 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 45 cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 36 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) TTCAGTGTCCGTAAAGGCGAC 0.463000 3 43 0 0 1 0 0 TSNAXIP1 55815 broad.mit.edu 37 16 67860104 67860104 + Missense_Mutation SNP G G C TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr16:67860104G>C ENST00000388833.3 + 10 1409 c.1032G>C c.(1030-1032)aaG>aaC p.K344N TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.K329N|TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.K398N NM_018430.2 NP_060900.2 Q2TAA8 TXIP1_HUMAN translin-associated factor X interacting protein 1 344 cell differentiation|multicellular organismal development|spermatogenesis perinuclear region of cytoplasm NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125) CTGAGGGCAAGAACAGCGACC 0.637000 3 56 0 0 1 0 0 PRR14 78994 broad.mit.edu 37 16 30666113 30666113 + Silent SNP A A C TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr16:30666113A>C ENST00000542965.2 + 7 1278 c.822A>C c.(820-822)ccA>ccC p.P274P PRR14_ENST00000300835.4_Silent_p.P274P Q9BWN1 PRR14_HUMAN proline rich 14 274 Pro-rich. breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 18 Colorectal(24;0.103) CACAGCCCCCACCCCCGTCCC 0.652000 4 21 0 0 1 0 0 MUC21 394263 broad.mit.edu 37 6 30954806 30954806 + Missense_Mutation SNP T T C rs9262370 TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr6:30954806T>C ENST00000376296.3 + 2 1095 c.854T>C c.(853-855)gTc>gCc p.V285A MUC21_ENST00000486149.2_5'UTR NM_001010909.2 NP_001010909.2 Q5SSG8 MUC21_HUMAN mucin 21, cell surface associated 285 28 X 15 AA approximate tandem repeats.|Ser-rich. V -> A (in dbSNP:rs9262370). integral to membrane|plasma membrane NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 ATCAGCACAGTCACCAATTCT 0.612000 10 332 0 0 1 0 0 RORB 6096 broad.mit.edu 37 9 77277523 77277523 + Splice_Site SNP G G T TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr9:77277523G>T ENST00000376896.2 + 6 1504 c.e6+1 RORB_ENST00000396204.2_Splice_Site NM_006914.3 NP_008845.2 Q92753 RORB_HUMAN RAR-related orphan receptor B eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 12 CTGAAGTCAGGTAAGCAAGAA 0.458000 12 74 7.93312e-07 8.34345e-07 1 1 0 SNRPB 6628 broad.mit.edu 37 20 2444499 2444499 + Missense_Mutation SNP C C T TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr20:2444499C>T ENST00000339610.6 - 5 532 c.77G>A c.(76-78)gGg>gAg p.G26E SNRPB_ENST00000438552.2_Missense_Mutation_p.G105E|SNRPB_ENST00000381342.2_Missense_Mutation_p.G105E P14678 RSMB_HUMAN small nuclear ribonucleoprotein polypeptides B and B1 105 histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP protein binding|RNA binding kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 10 CCTGCCGATCCCTGGGCCCCC 0.587000 5 135 0 0 1 0 0 STRAP 11171 broad.mit.edu 37 12 16050900 16050900 + Silent SNP C C T TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr12:16050900C>T ENST00000419869.2 + 7 1036 c.723C>T c.(721-723)ggC>ggT p.G241G STRAP_ENST00000538352.1_Silent_p.G147G|STRAP_ENST00000025399.6_Silent_p.G254G NM_007178.3 NP_009109.3 Q9Y3F4 STRAP_HUMAN serine/threonine kinase receptor associated protein 241 mRNA processing|RNA splicing cell junction|mitochondrion|spliceosomal complex identical protein binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1) 15 Hepatocellular(102;0.121) TTGTTGCAGGCGGTGAAGATT 0.343000 19 34 0 0 1 0 0 NABP2 79035 broad.mit.edu 37 12 56622875 56622875 + Missense_Mutation SNP T T C TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr12:56622875T>C ENST00000380198.2 + 6 1012 c.514T>C c.(514-516)Tcc>Ccc p.S172P NABP2_ENST00000341463.5_Missense_Mutation_p.S172P|NABP2_ENST00000267023.4_Missense_Mutation_p.S172P nucleic acid binding protein 2 TCATACTCCCTCCCACCCACC 0.597000 5 15 0 0 1 0 0 TRHR 7201 broad.mit.edu 37 8 110100140 110100140 + Silent SNP C C G TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr8:110100140C>G ENST00000518632.1 + 2 750 c.399C>G c.(397-399)gcC>gcG p.A133A TRHR_ENST00000311762.2_Silent_p.A133A P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 133 integral to plasma membrane thyrotropin-releasing hormone receptor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) CCATCAAAGCCCAGTTTCTCT 0.413000 20 33 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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 14 30 0 0 1 0 0 CDH9 1007 broad.mit.edu 37 5 26906079 26906079 + Missense_Mutation SNP C C T TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr5:26906079C>T ENST00000231021.4 - 5 972 c.800G>A c.(799-801)cGa>cAa p.R267Q NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 267 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R267Q(1) breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 CTGGGGAAATCGAGGAGGGTT 0.428000 4 130 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142480060 142480060 + RNA SNP C C T TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr7:142480060C>T ENST00000603901.1 + 0 192 NR_001296.3 CAGGTCACTGCTACAAGCCGT 0.567000 22 92 0 0 1 0 0 WASH3P 0 broad.mit.edu 37 15 102515299 102515299 + RNA SNP G G A TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr15:102515299G>A ENST00000557932.1 + 0 1145 p.G374S(10) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGGGGGCATCGGCAAGGCCAA 0.652000 6 18 0 0 1 0 0 SKIV2L2 23517 broad.mit.edu 37 5 54720585 54720585 + Silent SNP C C T TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr5:54720585C>T ENST00000230640.5 + 27 3368 c.3114C>T c.(3112-3114)gcC>gcT p.A1038A SKIV2L2_ENST00000545714.1_Silent_p.A937A NM_015360.4 NP_056175.3 P42285 SK2L2_HUMAN superkiller viralicidic activity 2-like 2 (S. cerevisiae) 1038 maturation of 5.8S rRNA catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194) TGTTTGCTGCCAGCCTCTACT 0.378000 4 38 0 0 1 0 0 PLEKHM3 389072 broad.mit.edu 37 2 208866024 208866024 + Missense_Mutation SNP C C T TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr2:208866024C>T ENST00000457206.1 - 2 767 c.340G>A c.(340-342)Gca>Aca p.A114T PLEKHM3_ENST00000427836.2_Missense_Mutation_p.A114T|PLEKHM3_ENST00000389247.4_Missense_Mutation_p.A114T Q6ZWE6 PKHM3_HUMAN pleckstrin homology domain containing, family M, member 3 114 intracellular signal transduction metal ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 AAGGTTGATGCTTCCTTTTGT 0.453000 16 79 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 31747794 31747794 + Silent SNP T T C TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chrX:31747794T>C ENST00000357033.4 - 52 7820 c.7614A>G c.(7612-7614)aaA>aaG p.K2538K DMD_ENST00000474231.1_Silent_p.K78K|DMD_ENST00000359836.1_Silent_p.K78K|DMD_ENST00000378707.3_Silent_p.K78K|DMD_ENST00000378677.2_Silent_p.K2534K|DMD_ENST00000343523.2_Silent_p.K78K|DMD_ENST00000541735.1_Silent_p.K78K NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 2538 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TGGTCTTGTTTTTCAAATTTT 0.413000 48 84 0 0 1 0 0 DMBX1 127343 broad.mit.edu 37 1 46976622 46976622 + Missense_Mutation SNP C C T TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr1:46976622C>T ENST00000371956.4 + 3 379 c.364C>T c.(364-366)Cgc>Tgc p.R122C DMBX1_ENST00000360032.3_Missense_Mutation_p.R117C NM_147192.2 NP_671725.1 Q8NFW5 DMBX1_HUMAN diencephalon/mesencephalon homeobox 1 122 Interacts with OXT2 and is required for repressor activity (By similarity). brain development|developmental growth|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) GTTCAAGAACCGCCGGGCCAA 0.617000 3 20 0 0 1 0 0 KIAA1524 57650 broad.mit.edu 37 3 108308132 108308132 + Missense_Mutation SNP G G A TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr3:108308132G>A ENST00000295746.8 - 1 167 c.91C>T c.(91-93)Cgg>Tgg p.R31W KIAA1524_ENST00000487834.1_5'UTR NM_020890.2 NP_065941.2 Q8TCG1 CIP2A_HUMAN KIAA1524 31 cytoplasm|integral to membrane protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TCCAAGTGCCGCAAAAGCTGA 0.587000 3 30 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76939554 76939554 + Silent SNP C C G TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chrX:76939554C>G ENST00000373344.5 - 9 1408 c.1194G>C c.(1192-1194)gtG>gtC p.V398V ATRX_ENST00000395603.3_Silent_p.V360V|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 398 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) TATCAGCCAACACAGACTTAA 0.363000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 5 333 0 0 1 0 0 PIWIL3 440822 broad.mit.edu 37 22 25119191 25119191 + Nonsense_Mutation SNP G G A rs147640812 TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr22:25119191G>A ENST00000332271.5 - 19 2706 c.2290C>T c.(2290-2292)Cga>Tga p.R764* PIWIL3_ENST00000527701.1_Nonsense_Mutation_p.R646*|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Nonsense_Mutation_p.R646* NM_001008496.3|NM_001255975.1 NP_001008496.2|NP_001242904.1 Q7Z3Z3 PIWL3_HUMAN piwi-like RNA-mediated gene silencing 3 764 Piwi. cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis cytoplasm RNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 GTGTTTATTCGTTTCTTCACC 0.343000 3 41 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522815 95522815 + RNA SNP A A G TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr2:95522815A>G ENST00000432432.2 - 0 212 NR_040113.1 ATCTTCTGCAATTCGGAGTCC 0.652000 5 102 0 0 1 0 0 MST1 4485 broad.mit.edu 37 3 49723304 49723304 + Silent SNP C C T TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr3:49723304C>T ENST00000449682.2 - 10 1600 c.1239G>A c.(1237-1239)ccG>ccA p.P413P MST1_ENST00000383728.3_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 399 Kringle 4. proteolysis extracellular region serine-type endopeptidase activity NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GCGGCTTGTGCGGCGTCTCAG 0.682000 5 121 0 0 1 0 0 HLA-A 3105 broad.mit.edu 37 6 29910693 29910693 + Missense_Mutation SNP A A G rs41559716 by1000genomes TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr6:29910693A>G ENST00000396634.1 + 4 574 c.233A>G c.(232-234)cAg>cGg p.Q78R HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R P30443 1A01_HUMAN major histocompatibility complex, class I, A 78 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.Q78R(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TGGATAGAGCAGGAGGGGCCG 0.657000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 5 30 0 0 1 0 0 HARS 3035 broad.mit.edu 37 5 140070858 140070858 + Missense_Mutation SNP A A T TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr5:140070858A>T ENST00000504156.1 - 1 751 c.32T>A c.(31-33)gTg>gAg p.V11E HARS_ENST00000415192.2_Missense_Mutation_p.V11E|HARS_ENST00000438307.2_Missense_Mutation_p.V11E|HARS_ENST00000448240.1_5'UTR|HARS_ENST00000431330.2_Missense_Mutation_p.V11E|HARS_ENST00000457527.2_Missense_Mutation_p.V11E|HARS_ENST00000307633.3_Missense_Mutation_p.V11E NM_002109.4 NP_002100.2 P12081 SYHC_HUMAN histidyl-tRNA synthetase 11 WHEP-TRS. histidyl-tRNA aminoacylation cytosol ATP binding|histidine-tRNA ligase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 19 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) L-Histidine(DB00117) CTGAAGTTTCACCAGCTCCTC 0.652000 11 29 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A rs121913343 TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr17:7577121G>A ENST00000420246.2 - 8 949 c.817C>T c.(817-819)Cgt>Tgt p.R273C TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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) GCACAAACACGCACCTCAAAG 0.542000 R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID) 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) 24 7 0 0 1 0 0 ITPR3 3710 broad.mit.edu 37 6 33660584 33660584 + Missense_Mutation SNP T T G TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr6:33660584T>G ENST00000374316.5 + 56 8598 c.7538T>G c.(7537-7539)tTt>tGt p.F2513C ITPR3_ENST00000605930.1_Missense_Mutation_p.F2513C Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 2513 activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 AACCTCATCTTTGGGGTAATC 0.517000 4 92 0 0 1 0 0 LHFPL4 375323 broad.mit.edu 37 3 9594261 9594261 + Missense_Mutation SNP T T C TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr3:9594261T>C ENST00000287585.6 - 2 388 c.103A>G c.(103-105)Atc>Gtc p.I35V NM_198560.2 NP_940962.1 Q7Z7J7 LHPL4_HUMAN lipoma HMGIC fusion partner-like 4 35 integral to membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1) 10 Medulloblastoma(99;0.227) ACGTTGATGATGGCGAAGCAG 0.632000 5 70 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887527 12887527 + Silent SNP A A G rs2486716 TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr1:12887527A>G ENST00000535591.1 - 3 525 c.330T>C c.(328-330)ttT>ttC p.F110F NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 110 p.F110F(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 AAAGTTCTACAAACACAGTCA 0.498000 5 319 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 4 90 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76937081 76937081 + Nonsense_Mutation SNP C C A TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chrX:76937081C>A ENST00000373344.5 - 9 3881 c.3667G>T c.(3667-3669)Gaa>Taa p.E1223* ATRX_ENST00000395603.3_Nonsense_Mutation_p.E1185*|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1223 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.E1223Q(2)|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) ATTTTCTGTTCATCGCTGCTT 0.343000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 17 54 2.48551e-13 2.65993e-13 1 1 0 NLRP8 126205 broad.mit.edu 37 19 56459540 56459540 + Missense_Mutation SNP G G A rs149738419 TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr19:56459540G>A ENST00000291971.3 + 1 343 c.272G>A c.(271-273)cGt>cAt p.R91H NLRP8_ENST00000590542.1_Missense_Mutation_p.R91H NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 91 DAPIN. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TTGATAGAGCGTTTCCCTGGA 0.512000 13 27 0 0 1 0 0 GAB3 139716 broad.mit.edu 37 X 153906497 153906497 + Missense_Mutation SNP G G C TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chrX:153906497G>C ENST00000369575.3 - 10 1750 c.1719C>G c.(1717-1719)agC>agG p.S573R GAB3_ENST00000496390.1_5'UTR|GAB3_ENST00000424127.2_Missense_Mutation_p.S574R NM_001081573.1|NM_080612.2 NP_001075042.1|NP_542179.1 Q8WWW8 GAB3_HUMAN GRB2-associated binding protein 3 573 NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1) 25 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CCTGTTTTGTGCTCTGGAGAG 0.463000 6 101 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100349994 100349994 + RNA SNP C C A rs221829 TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr7:100349994C>A ENST00000542585.1 + 0 2414 ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane p.P756T(8) NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CACCATCTCCCCAGAAAAACC 0.517000 6 152 0.0215528 0.0215528 1 1 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664115 22664115 + RNA SNP A A T TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr22:22664115A>T ENST00000426066.1 + 0 638 NR_027293.1 TGTTTAATTCAGCCTTGGAAG 0.413000 4 58 0 0 1 0 0 PPRC1 23082 broad.mit.edu 37 10 103900414 103900414 + Missense_Mutation SNP G G A TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr10:103900414G>A ENST00000278070.2 + 5 2188 c.2149G>A c.(2149-2151)Gac>Aac p.D717N PPRC1_ENST00000413464.2_Missense_Mutation_p.D717N NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 717 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) AGAGTCCTTGGACCCACCAAA 0.537000 4 96 0 0 1 0 0 CTCF 10664 broad.mit.edu 37 16 67663410 67663410 + Missense_Mutation SNP C C G TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr16:67663410C>G ENST00000264010.4 + 10 2255 c.1811C>G c.(1810-1812)tCt>tGt p.S604C CTCF_ENST00000401394.1_Missense_Mutation_p.S276C NM_006565.3 NP_006556.1 P49711 CTCF_HUMAN CCCTC-binding factor (zinc finger protein) 604 chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 79 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) AAGATGCGCTCTAAGAAAGAA 0.448000 6 55 0 0 1 0 0 TFRC 7037 broad.mit.edu 37 3 195803944 195803944 + Missense_Mutation SNP G G C TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr3:195803944G>C ENST00000360110.4 - 2 196 c.27C>G c.(25-27)ttC>ttG p.F9L TFRC_ENST00000420415.1_5'UTR|TFRC_ENST00000392396.3_Missense_Mutation_p.F9L|TFRC_ENST00000540528.1_Missense_Mutation_p.F8L|TFRC_ENST00000535031.1_5'UTR NM_001128148.1 NP_001121620.1 P02786 TFR1_HUMAN transferrin receptor 9 Mediates interaction with SH3BP4. cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport coated pit|endosome|integral to plasma membrane|melanosome peptidase activity|transferrin receptor activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00233) CCAAGTTAGAGAATGCTGATC 0.343000 T BCL6 NHL 14 34 0 0 1 0 0 PRSS35 167681 broad.mit.edu 37 6 84233254 84233254 + Nonsense_Mutation SNP A A T TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr6:84233254A>T ENST00000536636.1 + 3 439 c.94A>T c.(94-96)Aga>Tga p.R32* PRSS35_ENST00000369700.3_Nonsense_Mutation_p.R32* NM_001170423.1 NP_001163894.1 Q8N3Z0 PRS35_HUMAN protease, serine, 35 32 proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) GTGGCACTTGAGAAAGGTACC 0.448000 9 105 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 120996422 120996422 + Missense_Mutation SNP A A G TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr11:120996422A>G ENST00000392793.1 + 8 1886 c.1615A>G c.(1615-1617)Act>Gct p.T539A TECTA_ENST00000264037.2_Missense_Mutation_p.T539A O75443 TECTA_HUMAN tectorin alpha 539 VWFD 1. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GGAGTGTGGCACTGTCGTGGA 0.592000 7 176 0 0 1 0 0 ADPRH 141 broad.mit.edu 37 3 119305222 119305222 + Missense_Mutation SNP G G A TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr3:119305222G>A ENST00000478399.1 + 3 1794 c.389G>A c.(388-390)gGg>gAg p.G130E ADPRH_ENST00000478927.1_Missense_Mutation_p.G130E|ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000465513.1_Missense_Mutation_p.G130E|ADPRH_ENST00000357003.3_Missense_Mutation_p.G130E P54922 ADPRH_HUMAN ADP-ribosylarginine hydrolase 130 protein de-ADP-ribosylation ADP-ribosylarginine hydrolase activity|magnesium ion binding breast(1)|kidney(1)|lung(10)|ovary(1) 13 Lung NSC(201;0.0977) GBM - Glioblastoma multiforme(114;0.23) GGCGGCTGTGGGGCTGCCATG 0.612000 9 150 0 0 1 0 0 BTAF1 9044 broad.mit.edu 37 10 93749186 93749186 + Missense_Mutation SNP A A G TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr10:93749186A>G ENST00000265990.6 + 20 3011 c.2703A>G c.(2701-2703)atA>atG p.I901M NM_003972.2 NP_003963.1 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa 901 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6) 59 Colorectal(252;0.0846) CTCAGTGCATAGCTAAACTCC 0.388000 30 46 0 0 1 0 0 TERT 0 broad.mit.edu 37 5 1264587 1264587 + Silent SNP G G A rs34528119 TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr5:1264587G>A ENST00000310581.5 - 11 2832 c.2775C>T c.(2773-2775)caC>caT p.H925H TERT_ENST00000334602.6_Intron|TERT_ENST00000296820.5_3'UTR NM_001193376.1|NM_198253.2 NP_001180305.1|NP_937983.2 O14746 TERT_HUMAN telomerase reverse transcriptase 925 Required for oligomerization.|Reverse transcriptase. anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase cytoplasm|nucleolus|PML body|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GGAATAGGCCGTGGGCCGGCA 0.627000 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 20 44 0 0 1 0 0 NUAK1 9891 broad.mit.edu 37 12 106477695 106477695 + Missense_Mutation SNP G G T TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr12:106477695G>T ENST00000261402.2 - 4 1905 c.526C>A c.(526-528)Cac>Aac p.H176N NM_014840.2 NP_055655.1 O60285 NUAK1_HUMAN NUAK family, SNF1-like kinase, 1 176 Protein kinase. ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 AAGTCCCGGTGGACCACACCG 0.498000 4 63 0.000602214 0.000612251 1 1 0 KRI1 65095 broad.mit.edu 37 19 10670353 10670353 + Missense_Mutation SNP G G A TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr19:10670353G>A ENST00000312962.6 - 11 996 c.977C>T c.(976-978)tCc>tTc p.S326F KRI1_ENST00000361821.5_Missense_Mutation_p.S322F NM_023008.3 NP_075384.3 Q8N9T8 KRI1_HUMAN KRI1 homolog (S. cerevisiae) 326 Glu-rich. NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) ACGGCGCACGGAGGACGCGAT 0.622000 13 45 0 0 1 0 0 POU4F2 5458 broad.mit.edu 37 4 147560457 147560458 + In_Frame_Ins INS - - GGC rs67907220 TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr4:147560457_147560458insGGC ENST00000281321.3 + 1 413_414 c.165_166insGGC c.(163-168)gggcgg>ggGGCgcgg p.55_56GR>GAR AC093887.1_ENST00000584185.1_RNA NM_004575.2 NP_004566.2 Q12837 PO4F2_HUMAN POU class 4 homeobox 2 55 Poly-Gly. estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) ACGCTggtggtggcggcggcgg 0.762 6 6 --- --- --- --- DDX60L 91351 broad.mit.edu 37 4 169379129 169379129 + Frame_Shift_Del DEL T T - TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr4:169379129delT ENST00000511577.1 - 6 884 c.637delA c.(637-639)gcfs p.S213fs DDX60L_ENST00000260184.7_Frame_Shift_Del_p.S213fs|DDX60L_ENST00000505890.1_Frame_Shift_Del_p.S213fs Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 213 ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) TGTATGAGGCTTTTATATGCA 0.294 2 4 --- --- --- --- STK19 8859 broad.mit.edu 37 6 31939825 31939826 + Frame_Shift_Ins INS - - G TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr6:31939825_31939826insG ENST00000375331.2 + 1 218_219 c.52_53insG c.(52-54)ggcfs p.G18fs DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 18 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 GCGACAGTGGCGGGCAAACCCC 0.634 9 184 --- --- --- --- STK19 8859 broad.mit.edu 37 6 31939829 31939830 + Frame_Shift_Ins INS - - A TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr6:31939829_31939830insA ENST00000375331.2 + 1 222_223 c.56_57insA c.(55-57)gaafs p.E19fs DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 19 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 CAGTGGCGGGCAAACCCCTCCC 0.634 8 155 --- --- --- --- FOXK1 221937 broad.mit.edu 37 7 4798771 4798771 + Frame_Shift_Del DEL C C - TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr7:4798771delC ENST00000328914.4 + 6 1334 c.1334delC c.(1333-1335)tcfs p.S445fs FOXK1_ENST00000446823.1_Frame_Shift_Del_p.S282fs NM_001037165.1 NP_001032242.1 P85037 FOXK1_HUMAN forkhead box K1 445 Missing (in Ref. 1; AK122663). cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15) CGGGAGGGCTCCCCCATTCCA 0.652 7 245 --- --- --- --- PLXNA4 91584 broad.mit.edu 37 7 131829883 131829889 + Frame_Shift_Del DEL GCTCTTC GCTCTTC - TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr7:131829883_131829889delGCTCTTC ENST00000359827.3 - 29 6176_6182 c.5214_5220delGAAGAGC c.(5212-5220)tgfs p.WKS1738fs PLXNA4_ENST00000321063.4_Frame_Shift_Del_p.WKS1738fs Q9HCM2 PLXA4_HUMAN plexin A4 1738 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 CTCACCAATTGCTCTTCCAGGTATGGC 0.594 10 58 --- --- --- --- SMPD1 6609 broad.mit.edu 37 11 6412868 6412870 + In_Frame_Del DEL TAG TAG - TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr11:6412868_6412870delTAG ENST00000342245.4 + 2 741_743 c.573_575delTAG c.(571-576)ccc>cc p.PS191del SMPD1_ENST00000299397.3_In_Frame_Del_p.PS191del|SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000356761.2_In_Frame_Del_p.PS191del|SMPD1_ENST00000527275.1_In_Frame_Del_p.PS190del NM_000543.4|NM_001007593.2 NP_000534.3|NP_001007594.2 P17405 ASM_HUMAN sphingomyelin phosphodiesterase 1, acid lysosomal 189 cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction lysosome hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3) 23 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) Desipramine(DB01151) CCAAACCCCCTAGCCCCCCAGCC 0.626 3 6 --- --- --- --- CTC-260E6.6 0 broad.mit.edu 37 19 20262849 20262850 + RNA INS - - T rs142097873 TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr19:20262849_20262850insT ENST00000593655.1 - 0 337 CTC-260E6.6_ENST00000586657.1_RNA TTTCttttttcttttttttttt 0.470 3 3 --- --- --- --- LINC00162 0 broad.mit.edu 37 21 46421847 46421852 + RNA DEL CAGCCC CAGCCC - rs881968 by1000genomes TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0686504d-9d1a-470d-bb1a-14fef0939d3f c54b6c79-a24e-418f-a5f3-5bda53aebf79 g.chr21:46421847_46421852delCAGCCC ENST00000422199.1 - 0 284 NR_024089.1 ACGACTGTGTCAgcccctgcccctgc 0.665 4 2 --- --- --- ---