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 ZNF71 58491 broad.mit.edu 37 19 57132875 57132875 + Missense_Mutation SNP G G A rs141566979 byFrequency TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr19:57132875G>A ENST00000328070.6 + 3 454 c.220G>A c.(220-222)Gca>Aca p.A74T NM_021216.4 NP_067039.1 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 74 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A74T(1) endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) CTCAGTACCCGCATGTCATGA 0.617000 11 68 0 0 0.411799 0 0 NLRP4 147945 broad.mit.edu 37 19 56369610 56369610 + Missense_Mutation SNP C C T TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr19:56369610C>T ENST00000301295.6 + 3 1273 c.851C>T c.(850-852)cCg>cTg p.P284L NLRP4_ENST00000587891.1_Missense_Mutation_p.P209L|NLRP4_ENST00000346986.5_Missense_Mutation_p.P284L NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 284 NACHT. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) CCCGTGTGCCCGAAGGAGCTC 0.537000 29 142 0 0 0.717897 0 0 SCN3A 6328 broad.mit.edu 37 2 165970378 165970378 + Missense_Mutation SNP T T C TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr2:165970378T>C ENST00000360093.3 - 20 4108 c.3617A>G c.(3616-3618)aAc>aGc p.N1206S SCN3A_ENST00000409101.3_Missense_Mutation_p.N1157S|SCN3A_ENST00000283254.7_Missense_Mutation_p.N1206S NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1206 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) CTCAAACCAGTTGTGCTCAAC 0.378000 40 135 0 0 0.864702 0 0 ANKRD17 26057 broad.mit.edu 37 4 73957066 73957066 + Silent SNP T T A TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr4:73957066T>A ENST00000358602.4 - 29 6395 c.6279A>T c.(6277-6279)ccA>ccT p.P2093P ANKRD17_ENST00000509867.2_Silent_p.P1980P|ANKRD17_ENST00000330838.6_Silent_p.P1842P NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 2093 Ser-rich. interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TGCTGCTGTTTGGAGGTCTAG 0.473000 48 141 0 0 0.870114 0 0 C8orf74 203076 broad.mit.edu 37 8 10557893 10557893 + Missense_Mutation SNP C C T TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr8:10557893C>T ENST00000304519.5 + 4 826 c.797C>T c.(796-798)cCg>cTg p.P266L RP1L1_ENST00000329335.3_Intron NM_001040032.1 NP_001035121.1 Q6P047 CH074_HUMAN chromosome 8 open reading frame 74 266 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 13 COAD - Colon adenocarcinoma(149;0.0811) ACCCCTATCCCGCCCCCCATC 0.587000 19 19 0 0 0.557998 0 0 KLHL41 10324 broad.mit.edu 37 2 170374777 170374777 + Missense_Mutation SNP G G A TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr2:170374777G>A ENST00000284669.1 + 4 1531 c.1454G>A c.(1453-1455)cGt>cAt p.R485H BBS5_ENST00000554017.1_Missense_Mutation_p.R423H|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.R423H|KLHL41_ENST00000463400.1_3'UTR NM_006063.2 NP_006054.2 kelch-like family member 41 AAAATTCCTCGTTCCATGTTT 0.388000 9 77 0 0 0.387290 0 0 C9orf96 169436 broad.mit.edu 37 9 136256485 136256485 + Missense_Mutation SNP A A T TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr9:136256485A>T ENST00000371957.3 + 7 603 c.496A>T c.(496-498)Atc>Ttc p.I166F C9orf96_ENST00000371955.1_5'UTR NM_153710.3 NP_714921.3 Q8NE28 SGK71_HUMAN chromosome 9 open reading frame 96 166 Protein kinase. ATP binding|protein kinase activity autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2) 25 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) CATCATCCTCATCAGCAGTGA 0.552000 78 316 0 0 0.870114 0 0 BEND2 139105 broad.mit.edu 37 X 18234679 18234679 + Missense_Mutation SNP C C T TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chrX:18234679C>T ENST00000380033.4 - 2 332 c.200G>A c.(199-201)gGc>gAc p.G67D BEND2_ENST00000380030.3_Missense_Mutation_p.G67D NM_153346.4 NP_699177.2 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 67 NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1) 49 GCCATCATTGCCGCCTGGAAA 0.408000 38 6 0 0 0.847076 0 0 ZNF845 91664 broad.mit.edu 37 19 53854880 53854880 + Missense_Mutation SNP A A G TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr19:53854880A>G ENST00000458035.1 + 4 1069 c.952A>G c.(952-954)Aag>Gag p.K318E ZNF845_ENST00000595091.1_Missense_Mutation_p.K318E NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 318 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TGTAATTCATAAGGCAATTCA 0.413000 41 67 0 0 0.834066 0 0 ATRX 546 broad.mit.edu 37 X 76940083 76940083 + Nonsense_Mutation SNP C C T TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chrX:76940083C>T ENST00000373344.5 - 9 879 c.665G>A c.(664-666)tGg>tAg p.W222* ATRX_ENST00000395603.3_Nonsense_Mutation_p.W184*|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 222 ADD. W -> S (in ATRX). 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) TTCCGCACACCACCTGAAATG 0.343000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 81 13 0 0 0.870114 0 0 RARG 5916 broad.mit.edu 37 12 53609147 53609147 + Silent SNP G G A TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr12:53609147G>A ENST00000425354.2 - 5 892 c.405C>T c.(403-405)aaC>aaT p.N135N RARG_ENST00000327550.3_Silent_p.N63N|RARG_ENST00000394426.1_Silent_p.N135N|RARG_ENST00000543726.1_Silent_p.N113N|RARG_ENST00000338561.5_Silent_p.N124N|RARG_ENST00000543762.1_5'UTR NM_000966.5 NP_000957.1 P13631 RARG_HUMAN retinoic acid receptor, gamma 135 canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid integral to membrane|transcription factor complex retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) TGGTCACCTTGTTGATGATAC 0.547000 27 113 0 0 0.740014 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000405598.1_Silent_p.S372S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 85 0 0 0.184627 0 0 REPS1 85021 broad.mit.edu 37 6 139247539 139247539 + Splice_Site SNP G G C TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr6:139247539G>C ENST00000450536.2 - 10 1911 c.1338_splice c.e10+1 p.P446_splice REPS1_ENST00000367663.4_Intron|REPS1_ENST00000409812.2_Intron|REPS1_ENST00000258062.5_Splice_Site_p.P446_splice|REPS1_ENST00000415951.2_Intron Q96D71 REPS1_HUMAN RALBP1 associated Eps domain containing 1 446 coated pit|plasma membrane calcium ion binding|SH3 domain binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2) 19 GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548) TTGACTTACAGGATCAGCTGG 0.393000 12 12 0 0 0.387290 0 0 SMAD9 4093 broad.mit.edu 37 13 37427768 37427768 + Missense_Mutation SNP C C T TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr13:37427768C>T ENST00000379826.4 - 6 1390 c.1048G>A c.(1048-1050)Gtg>Atg p.V350M SMAD9_ENST00000350148.5_Missense_Mutation_p.V313M|SMAD9_ENST00000399275.2_Missense_Mutation_p.V350M NM_001127217.2 NP_001120689.1 O15198 SMAD9_HUMAN SMAD family member 9 350 MH2. BMP signaling pathway|transforming growth factor beta receptor signaling pathway cytosol|transcription factor complex sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8) 18 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026) CTGTCACTCACGCACTCGGCA 0.562000 6 43 0 0 0.248553 0 0 FAM174A 345757 broad.mit.edu 37 5 99897847 99897847 + Missense_Mutation SNP A A T TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr5:99897847A>T ENST00000312637.4 + 2 750 c.524A>T c.(523-525)gAt>gTt p.D175V FAM174A_ENST00000505792.1_3'UTR NM_198507.1 NP_940909.1 Q8TBP5 F174A_HUMAN family with sequence similarity 174, member A 175 integral to membrane breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 GAACAGGATGATGAGGATGAT 0.383000 29 61 0 0 0.740014 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84606491 84606491 + Missense_Mutation SNP C C G TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr9:84606491C>G ENST00000344803.2 + 4 1153 c.1106C>G c.(1105-1107)tCt>tGt p.S369C NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 TCTTTTTCCTCTAATTTTGTG 0.483000 15 69 0 0 0.500413 0 0 AICDA 57379 broad.mit.edu 37 12 8757943 8757943 + Nonsense_Mutation SNP G G A TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr12:8757943G>A ENST00000229335.6 - 3 398 c.295C>T c.(295-297)Cga>Tga p.R99* AICDA_ENST00000537228.1_Nonsense_Mutation_p.R99* NM_020661.2 NP_065712.1 Q9GZX7 AICDA_HUMAN activation-induced cytidine deaminase 99 B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing cytoplasm cytidine deaminase activity|protein binding|zinc ion binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1) 16 Lung SC(5;0.184) GGGTTCCCTCGCAGAAAGTCG 0.667000 15 56 0 0 0.500413 0 0 TMEM132A 54972 broad.mit.edu 37 11 60703701 60703701 + Silent SNP A A T TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr11:60703701A>T ENST00000005286.4 + 11 2550 c.2397A>T c.(2395-2397)gcA>gcT p.A799A TMEM132A_ENST00000453848.2_Silent_p.A798A NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 798 Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity). endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 GGCAGGTGGCAGGCAGTGTCG 0.662000 11 60 0 0 0.479597 0 0 ATP5O 539 broad.mit.edu 37 21 35288047 35288047 + Silent SNP G G A TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr21:35288047G>A ENST00000290299.2 - 1 237 c.21C>T c.(19-21)tcC>tcT p.S7S LINC00649_ENST00000596365.1_RNA|LINC00649_ENST00000597626.1_RNA|LINC00649_ENST00000598119.1_RNA NM_001697.2 NP_001688.1 ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 5 GGGAGAGCCCGGACACTGCTG 0.652000 5 4 0 0 0.184627 0 0 NEK8 284086 broad.mit.edu 37 17 27068158 27068158 + Nonsense_Mutation SNP C C T TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr17:27068158C>T ENST00000268766.6 + 13 1829 c.1795C>T c.(1795-1797)Cga>Tga p.R599* AC010761.6_ENST00000584779.1_RNA NM_178170.2 NP_835464.1 Q86SG6 NEK8_HUMAN NIMA-related kinase 8 599 cytoplasm|primary cilium ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Lung NSC(42;0.0158) CAATACTCGCCGAGGCAGTCG 0.572000 24 109 0 0 0.693898 0 0 GJA1 2697 broad.mit.edu 37 6 121769068 121769068 + Missense_Mutation SNP G G T TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr6:121769068G>T ENST00000282561.3 + 2 1232 c.1075G>T c.(1075-1077)Gtg>Ttg p.V359L NM_000165.3 NP_000156.1 P17302 CXA1_HUMAN gap junction protein, alpha 1, 43kDa 359 cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft ion transmembrane transporter activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2) 33 GBM - Glioblastoma multiforme(226;0.00252) Carvedilol(DB01136) ACTAGCCATTGTGGACCAGCG 0.493000 29 119 4.65686e-17 5.04494e-17 0.788014 1 0 MT-CYB 4519 broad.mit.edu 37 MT 14831 14831 + Missense_Mutation SNP G G A TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chrM:14831G>A ENST00000361789.2 + 1 85 c.85G>A c.(85-87)Gca>Aca p.29_29insT mitochondrially encoded cytochrome b breast(6)|endometrium(25)|kidney(33)|prostate(1) 65 CCAACATCTCCGCATGATGAA 0.483000 12 89 0 0 0.387290 0 0 RSPH9 221421 broad.mit.edu 37 6 43612865 43612865 + Silent SNP G G A TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr6:43612865G>A ENST00000372165.4 + 1 83 c.30G>A c.(28-30)ctG>ctA p.L10L RSPH9_ENST00000372163.4_Silent_p.L10L NM_001193341.1 NP_001180270.1 Q9H1X1 RSPH9_HUMAN radial spoke head 9 homolog (Chlamydomonas) 10 cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 TGCTGTCTCTGGAGCTGGCGT 0.657000 Kartagener syndrome 7 53 0 0 0.307466 0 0 ZFP57 346171 broad.mit.edu 37 6 29641322 29641322 + Missense_Mutation SNP T T A TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr6:29641322T>A ENST00000376883.1 - 6 917 c.506A>T c.(505-507)tAc>tTc p.Y169F ZFP57_ENST00000376881.3_Missense_Mutation_p.Y169F|ZFP57_ENST00000488757.1_Missense_Mutation_p.Y189F Q9NU63 ZFP57_HUMAN ZFP57 zinc finger protein 105 DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5) 44 GCTATAGAGGTAGGAGCGCCT 0.542000 24 95 0 0 0.654019 0 0 MLXIPL 51085 broad.mit.edu 37 7 73011230 73011230 + Missense_Mutation SNP C C G TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr7:73011230C>G ENST00000313375.3 - 10 1683 c.1636G>C c.(1636-1638)Gta>Cta p.V546L MLXIPL_ENST00000414749.2_Missense_Mutation_p.V546L|MLXIPL_ENST00000354613.1_Missense_Mutation_p.V546L|MLXIPL_ENST00000395189.1_Missense_Mutation_p.V453L|MLXIPL_ENST00000434326.1_Missense_Mutation_p.V453L|MLXIPL_ENST00000429400.2_Missense_Mutation_p.V546L NM_032951.2|NM_032953.2 NP_116569.1|NP_116571.1 Q9NP71 WBS14_HUMAN MLX interacting protein-like 546 anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis cytosol|transcription factor complex carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Lung NSC(55;0.0659)|all_lung(88;0.152) GTGCTGGATACAAGTGGTGGC 0.672000 2 23 0 0 0.115264 0 0 CCNA1 8900 broad.mit.edu 37 13 37015366 37015366 + Missense_Mutation SNP T T C TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr13:37015366T>C ENST00000418263.1 + 7 1557 c.1207T>C c.(1207-1209)Tgg>Cgg p.W403R CCNA1_ENST00000440264.1_Missense_Mutation_p.W360R|CCNA1_ENST00000449823.1_Missense_Mutation_p.W360R|CCNA1_ENST00000255465.4_Missense_Mutation_p.W404R NM_001111045.1|NM_003914.3 NP_001104515.1|NP_003905.1 P78396 CCNA1_HUMAN cyclin A1 404 cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 35 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) CAAGCACTTTTGGGTAAGATT 0.398000 39 73 0 0 0.847076 0 0 MTL5 9633 broad.mit.edu 37 11 68480850 68480850 + Missense_Mutation SNP G G A TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr11:68480850G>A ENST00000255087.5 - 8 1229 c.1046C>T c.(1045-1047)gCt>gTt p.A349V NM_004923.3 NP_004914.2 Q9Y4I5 MTL5_HUMAN metallothionein-like 5, testis-specific (tesmin) 349 cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis cytoplasm|nucleus|soluble fraction metal ion binding breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 15 Esophageal squamous(3;4.37e-12) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185) TGGCTGGAAAGCTTCTGGATT 0.468000 55 261 0 0 0.870114 0 0 TNRC6A 27327 broad.mit.edu 37 16 24802982 24802982 + Missense_Mutation SNP G G C TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr16:24802982G>C ENST00000395799.3 + 6 3148 c.3019G>C c.(3019-3021)Gct>Cct p.A1007P TNRC6A_ENST00000315183.7_Missense_Mutation_p.A1007P NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1007 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) TGGAACTTCAGCTTGGGGAGA 0.468000 24 55 0 0 0.654019 0 0 TESK2 10420 broad.mit.edu 37 1 45887455 45887455 + Missense_Mutation SNP C C T TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr1:45887455C>T ENST00000372086.3 - 3 686 c.286G>A c.(286-288)Gca>Aca p.A96T TESK2_ENST00000341771.6_Missense_Mutation_p.A96T|TESK2_ENST00000372084.1_Missense_Mutation_p.A96T|TESK2_ENST00000538496.1_Missense_Mutation_p.A13T|TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000451835.2_Missense_Mutation_p.A96T NM_007170.2 NP_009101.2 Q96S53 TESK2_HUMAN testis-specific kinase 2 96 Protein kinase. actin cytoskeleton organization|focal adhesion assembly|spermatogenesis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 32 Acute lymphoblastic leukemia(166;0.155) AGCATGTTTGCCCGGTTACTG 0.423000 71 95 0 0 0.870114 0 0 MAML2 84441 broad.mit.edu 37 11 95826019 95826019 + Silent SNP G G A TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr11:95826019G>A ENST00000524717.1 - 2 2460 c.1176C>T c.(1174-1176)tcC>tcT p.S392S NM_032427.1 NP_115803.1 Q8IZL2 MAML2_HUMAN mastermind-like 2 (Drosophila) 392 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity CRTC3/MAML2(26)|CRTC1/MAML2(516) breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) AGTTGGCCATGGAGAATGCGG 0.597000 T """MECT1, CRTC3""" salivary gland mucoepidermoid 22 11 0 0 0.592651 0 0 VWA3B 200403 broad.mit.edu 37 2 98928738 98928738 + Nonsense_Mutation SNP C C T TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr2:98928738C>T ENST00000477737.1 + 28 4015 c.3811C>T c.(3811-3813)Cga>Tga p.R1271* VWA3B_ENST00000490947.2_3'UTR NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 1271 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 ACCTCCACCTCGAGCAGCCCT 0.607000 21 76 0 0 0.608945 0 0 TGFBR1 7046 broad.mit.edu 37 9 101907133 101907133 + Missense_Mutation SNP A A G TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr9:101907133A>G ENST00000374994.4 + 6 1210 c.1093A>G c.(1093-1095)Att>Gtt p.I365V TGFBR1_ENST00000552516.1_Missense_Mutation_p.I369V|TGFBR1_ENST00000374990.2_Missense_Mutation_p.I288V|TGFBR1_ENST00000550253.1_Missense_Mutation_p.I296V NM_004612.2 NP_004603.1 P36897 TGFR1_HUMAN transforming growth factor, beta receptor 1 365 Protein kinase. activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 27 Acute lymphoblastic leukemia(62;0.0559) CACAGATACCATTGATATTGC 0.348000 5 94 0 0 0.184627 0 0 LILRB5 0 broad.mit.edu 37 19 54754843 54754843 + Missense_Mutation SNP A A G TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr19:54754843A>G ENST00000450632.1 - 13 1869 c.1792T>C c.(1792-1794)Tcc>Ccc p.S598P LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000345866.6_Intron O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 423 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGGGGTGGGGAGGCCTGGGGG 0.607000 4 40 0 0 0.184627 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 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 27 36 0 0 0.717897 0 0 ZNF20 7568 broad.mit.edu 37 19 12244606 12244606 + Missense_Mutation SNP G G A TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr19:12244606G>A ENST00000334213.5 - 4 619 c.395C>T c.(394-396)tCa>tTa p.S132L ZNF625-ZNF20_ENST00000430024.1_3'UTR|ZNF20_ENST00000600335.1_Intron|ZNF20_ENST00000485451.1_5'UTR NM_001203250.1|NM_021143.3 NP_001190179.1|NP_066966.2 P17024 ZNF20_HUMAN zinc finger protein 20 132 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|lung(6) 8 ATACTCAGATGACTTGTGTCC 0.408000 59 231 0 0 0.870114 0 0 ACSS3 79611 broad.mit.edu 37 12 81647382 81647382 + Missense_Mutation SNP C C T TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr12:81647382C>T ENST00000548058.1 + 15 2838 c.1928C>T c.(1927-1929)cCc>cTc p.P643L ACSS3_ENST00000548324.1_Missense_Mutation_p.P325L|ACSS3_ENST00000261206.3_Missense_Mutation_p.P642L Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 643 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 AAACAGCTACCCAAAACCAGA 0.428000 21 108 0 0 0.575678 0 0 HNRNPL 3191 broad.mit.edu 37 19 39328114 39328114 + Missense_Mutation SNP G G A TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr19:39328114G>A ENST00000221419.5 - 12 1987 c.1621C>T c.(1621-1623)Cgc>Tgc p.R541C HNRNPL_ENST00000600873.1_Missense_Mutation_p.R408C|AC104534.3_ENST00000594769.1_Silent_p.S157S NM_001533.2 NP_001524.2 P14866 HNRPL_HUMAN heterogeneous nuclear ribonucleoprotein L 541 nuclear mRNA splicing, via spliceosome cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) GAGGAGCTGCGCTCACCTGAT 0.512000 42 78 0 0 0.840704 0 0 DPPA3 359787 broad.mit.edu 37 12 7864237 7864237 + Missense_Mutation SNP G G A TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr12:7864237G>A ENST00000345088.2 + 1 188 c.71G>A c.(70-72)cGg>cAg p.R24Q NM_199286.2 NP_954980.1 Q6W0C5 DPPA3_HUMAN developmental pluripotency associated 3 24 cytoplasm|nucleus endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2) 8 Kidney(36;0.0887) GAAAATTCCCGGGACGATTCA 0.458000 3 62 0 0 0.150653 0 0 ALDH1A3 220 broad.mit.edu 37 15 101447398 101447398 + Missense_Mutation SNP G G A rs145630728 byFrequency TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr15:101447398G>A ENST00000329841.5 + 11 1838 c.1306G>A c.(1306-1308)Gac>Aac p.D436N RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Missense_Mutation_p.D329N NM_000693.2 NP_000684.2 P47895 AL1A3_HUMAN aldehyde dehydrogenase 1 family, member A3 436 retinal metabolic process cytoplasm aldehyde dehydrogenase|protein homodimerization activity NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 27 Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) NADH(DB00157)|Vitamin A(DB00162) GAATAGCACCGACTATGGACT 0.438000 68 40 0 0 0.870114 0 0 LRRC32 2615 broad.mit.edu 37 11 76371899 76371899 + Silent SNP G G C TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr11:76371899G>C ENST00000407242.2 - 3 980 c.738C>G c.(736-738)acC>acG p.T246T LRRC32_ENST00000260061.5_Silent_p.T246T|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Silent_p.T246T|AP001189.4_ENST00000447519.1_RNA NM_005512.2 NP_005503.1 Q14392 LRC32_HUMAN leucine rich repeat containing 32 246 integral to plasma membrane endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1) 31 GGTCAAGCCAGGTGAGCTGGA 0.617000 19 90 0 0 0.575678 0 0 EFEMP1 2202 broad.mit.edu 37 2 56145171 56145171 + Missense_Mutation SNP T T C rs55849640 byFrequency TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr2:56145171T>C ENST00000394555.2 - 4 581 c.146A>G c.(145-147)gAc>gGc p.D49G EFEMP1_ENST00000355426.3_Missense_Mutation_p.D49G|EFEMP1_ENST00000394554.1_Missense_Mutation_p.D49G|EFEMP1_ENST00000424836.2_5'UTR NM_001039348.2|NM_001039349.2 NP_001034437.1|NP_001034438.1 Q12805 FBLN3_HUMAN EGF containing fibulin-like extracellular matrix protein 1 49 EGF-like 1; atypical. negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception extracellular space|proteinaceous extracellular matrix calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TGGGACAATGTCACATTCATC 0.373000 32 76 0 0 0.769981 0 0 TC2N 123036 broad.mit.edu 37 14 92268745 92268745 + Missense_Mutation SNP C C T TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr14:92268745C>T ENST00000435962.2 - 4 645 c.322G>A c.(322-324)Gga>Aga p.G108R TC2N_ENST00000556018.1_Missense_Mutation_p.G108R|TC2N_ENST00000340892.5_Missense_Mutation_p.G108R|TC2N_ENST00000360594.5_Missense_Mutation_p.G108R NM_001128596.1 NP_001122068.1 Q8N9U0 TAC2N_HUMAN tandem C2 domains, nuclear 108 nucleus breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2) 18 COAD - Colon adenocarcinoma(157;0.218) TTTCGATCTCCAAAAGATGCT 0.403000 15 61 0 0 0.457914 0 0 CHD5 26038 broad.mit.edu 37 1 6186737 6186737 + Missense_Mutation SNP G G A TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr1:6186737G>A ENST00000262450.3 - 26 4072 c.3973C>T c.(3973-3975)Cgg>Tgg p.R1325W CHD5_ENST00000378021.1_Missense_Mutation_p.R182W NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1325 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) TAGTGGTGCCGCAGCAGCTTC 0.627000 15 57 0 0 0.520397 0 0 MAP7 9053 broad.mit.edu 37 6 136683671 136683671 + Missense_Mutation SNP C C A TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr6:136683671C>A ENST00000354570.3 - 11 1853 c.1443G>T c.(1441-1443)agG>agT p.R481S MAP7_ENST00000544465.1_Missense_Mutation_p.R466S|MAP7_ENST00000438100.2_Missense_Mutation_p.R466S|MAP7_ENST00000454590.1_Missense_Mutation_p.R503S|MAP7_ENST00000432797.2_Missense_Mutation_p.R335S NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4 NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1 Q14244 MAP7_HUMAN microtubule-associated protein 7 481 establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm receptor binding|structural molecule activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643) CAGCTAGAAGCCTTGTGGCCT 0.567000 17 57 3.51602e-12 3.70607e-12 0.575678 1 0 TNRC6A 27327 broad.mit.edu 37 16 24802981 24802981 + Silent SNP A A C TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr16:24802981A>C ENST00000395799.3 + 6 3147 c.3018A>C c.(3016-3018)tcA>tcC p.S1006S TNRC6A_ENST00000315183.7_Silent_p.S1006S NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1006 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) ATGGAACTTCAGCTTGGGGAG 0.473000 23 57 0 0 0.639603 0 0 C3orf18 51161 broad.mit.edu 37 3 50598380 50598380 + Missense_Mutation SNP C C A TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr3:50598380C>A ENST00000357203.3 - 5 915 c.376G>T c.(376-378)Gct>Tct p.A126S C3orf18_ENST00000441239.1_Missense_Mutation_p.A106S|C3orf18_ENST00000449241.1_Missense_Mutation_p.A126S|C3orf18_ENST00000426034.1_Missense_Mutation_p.A126S|C3orf18_ENST00000422619.1_Missense_Mutation_p.A74S|C3orf18_ENST00000486175.1_5'UTR NM_016210.4 NP_057294.2 Q9UK00 CC018_HUMAN chromosome 3 open reading frame 18 126 integral to membrane lung(1)|pancreas(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.0175)|Kidney(197;0.0207) GAAGTAGCAGCCTGTACAGAG 0.637000 24 56 3.28513e-13 3.51014e-13 0.667858 1 0 NACA 4666 broad.mit.edu 37 12 57110586 57110586 + Silent SNP G G A TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr12:57110586G>A ENST00000454682.1 - 3 5009 c.4728C>T c.(4726-4728)tcC>tcT p.S1576S NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 AGGCCTCTTTGGAGGATGGGG 0.582000 T BCL6 NHL 10 39 0 0 0.411799 0 0 MYCBP2 23077 broad.mit.edu 37 13 77714188 77714188 + Missense_Mutation SNP A A C TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr13:77714188A>C ENST00000407578.2 - 51 7778 c.7512T>G c.(7510-7512)atT>atG p.I2504M MYCBP2_ENST00000357337.6_Missense_Mutation_p.I2466M|MYCBP2_ENST00000544440.2_Missense_Mutation_p.I2466M|MYCBP2_ENST00000360084.5_De_novo_Start_InFrame NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 2466 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TTACCTCATCAATAAAAGTGA 0.398000 4 78 0 0 0.184627 0 0 SLC1A6 6511 broad.mit.edu 37 19 15073101 15073101 + Silent SNP G G A rs150916469 byFrequency TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr19:15073101G>A ENST00000598504.1 - 8 2007 c.648C>T c.(646-648)aaC>aaT p.N216N SLC1A6_ENST00000221742.3_Silent_p.N216N|SLC1A6_ENST00000430939.2_Silent_p.N152N|SLC1A6_ENST00000600144.1_Silent_p.N216N|SLC1A6_ENST00000544886.2_Silent_p.N216N NM_001272087.1 NP_001259016.1 P48664 EAA4_HUMAN solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 216 synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) GCTCAGACCCGTTCTCTGTCC 0.557000 41 139 0 0 0.870114 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 85 0 0 0.184627 0 0 TP53 7157 broad.mit.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T rs11540652 TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr17:7577538C>T ENST00000420246.2 - 7 875 c.743G>A c.(742-744)cGg>cAg p.R248Q TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 248 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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) GATGGGCCTCCGGTTCATGCC 0.572000 R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 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) 39 45 0 0 0.840704 0 0 MUC16 94025 broad.mit.edu 37 19 9082521 9082521 + Missense_Mutation SNP C C A TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr19:9082521C>A ENST00000397910.4 - 1 9497 c.9294G>T c.(9292-9294)caG>caT p.Q3098H NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3099 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 CTGCAATGGTCTGGCTTGAGG 0.478000 44 248 3.40343e-31 3.73898e-31 0.870114 1 0 HECTD4 283450 broad.mit.edu 37 12 112674788 112674788 + Missense_Mutation SNP G G A TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr12:112674788G>A ENST00000550722.1 - 35 5362 c.4967C>T c.(4966-4968)gCg>gTg p.A1656V HECTD4_ENST00000430131.2_Missense_Mutation_p.A1380V|HECTD4_ENST00000377560.5_Missense_Mutation_p.A1630V NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 ATCCTGGAGCGCGTCATTCCC 0.572000 6 26 0 0 0.248553 0 0 COL4A3 1285 broad.mit.edu 37 2 228153927 228153927 + Silent SNP G G A TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr2:228153927G>A ENST00000396578.3 + 35 3105 c.2943G>A c.(2941-2943)aaG>aaA p.K981K AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 981 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) CAGGTTTAAAGGGCCTCAAAG 0.423000 3 52 0 0 0.150653 0 0 DYX1C1 161582 broad.mit.edu 37 15 55742505 55742505 + Missense_Mutation SNP C C T TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr15:55742505C>T ENST00000321149.3 - 6 1065 c.698G>A c.(697-699)cGc>cAc p.R233H DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000348518.3_Missense_Mutation_p.R233H|DYX1C1_ENST00000380679.1_Missense_Mutation_p.R233H|DYX1C1_ENST00000448430.2_Missense_Mutation_p.R233H|DYX1C1_ENST00000457155.2_Missense_Mutation_p.R233H NM_130810.3 NP_570722.2 Q8WXU2 DYXC1_HUMAN dyslexia susceptibility 1 candidate 1 233 neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process cytoplasm|nucleus estrogen receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171) GCCAACAGAGCGAGGAGCAGG 0.378000 32 62 0 0 0.750413 0 0 CD44 960 broad.mit.edu 37 11 35231542 35231542 + Missense_Mutation SNP C C T TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr11:35231542C>T ENST00000428726.2 + 13 1670 c.1547C>T c.(1546-1548)tCa>tTa p.S516L CD44_ENST00000278386.6_Intron|CD44_ENST00000449691.2_Missense_Mutation_p.S473L|CD44_ENST00000415148.2_Missense_Mutation_p.S473L|CD44_ENST00000437706.2_Missense_Mutation_p.S516L|CD44_ENST00000433892.2_Missense_Mutation_p.S267L|CD44_ENST00000433354.2_Intron|CD44_ENST00000526669.2_Intron|CD44_ENST00000360158.4_Intron|CD44_ENST00000352818.4_Intron|CD44_ENST00000263398.6_Intron|CD44_ENST00000434472.2_Intron NM_000610.3 NP_000601.3 P16070 CD44_HUMAN CD44 molecule (Indian blood group) 516 Stem. cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation cell surface|Golgi apparatus|integral to plasma membrane collagen binding|hyaluronic acid binding|receptor activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1) 23 all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112) all_hematologic(20;0.107) STAD - Stomach adenocarcinoma(6;0.00731) Hyaluronidase(DB00070) TTCTCTACATCACATGAAGGC 0.388000 34 135 0 0 0.769981 0 0 C12orf66 144577 broad.mit.edu 37 12 64588283 64588283 + Missense_Mutation SNP C C A TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr12:64588283C>A ENST00000311915.8 - 3 704 c.677G>T c.(676-678)tGg>tTg p.W226L C12orf66_ENST00000544871.1_Missense_Mutation_p.W173L|C12orf66_ENST00000398055.3_Missense_Mutation_p.W226L Q96MD2 CL066_HUMAN chromosome 12 open reading frame 66 226 central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1) 5 GATCTGGCCCCACGTCTGCAG 0.537000 3 68 0.00909568 0.00933504 0.150653 1 0 DCTN1 1639 broad.mit.edu 37 2 74595916 74595916 + Missense_Mutation SNP C C T TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr2:74595916C>T ENST00000361874.3 - 16 2110 c.1793G>A c.(1792-1794)cGg>cAg p.R598Q DCTN1_ENST00000409868.1_Missense_Mutation_p.R581Q|DCTN1_ENST00000407639.2_Missense_Mutation_p.R464Q|DCTN1_ENST00000409240.1_Missense_Mutation_p.R561Q|DCTN1_ENST00000409438.1_Missense_Mutation_p.R464Q|DCTN1_ENST00000394003.3_Missense_Mutation_p.R591Q|DCTN1_ENST00000409567.3_Missense_Mutation_p.R578Q NM_004082.4 NP_004073.2 Q14203 DCTN1_HUMAN dynactin 1 598 cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3) 45 CCCACCTGGCCGAAGGAAGCT 0.532000 17 103 0 0 0.575678 0 0 NSFL1C 55968 broad.mit.edu 37 20 1426390 1426390 + Missense_Mutation SNP C C T TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr20:1426390C>T ENST00000216879.4 - 8 1738 c.871G>A c.(871-873)Gaa>Aaa p.E291K NSFL1C_ENST00000381658.4_Missense_Mutation_p.E180K|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000353088.2_Missense_Mutation_p.E260K|NSFL1C_ENST00000350991.4_Missense_Mutation_p.E293K|NSFL1C_ENST00000476071.1_Missense_Mutation_p.E293K NM_016143.4 NP_057227.2 Q9UNZ2 NSF1C_HUMAN NSFL1 (p97) cofactor (p47) 291 UBX. chromosome|Golgi stack|nucleus lipid binding|protein binding breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 16 GGCTCTGATTCGTCGATTAAG 0.532000 17 257 0 0 0.557998 0 0 PRDM9 56979 broad.mit.edu 37 5 23527687 23527687 + Silent SNP G G A TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr5:23527687G>A ENST00000296682.3 + 11 2672 c.2490G>A c.(2488-2490)aaG>aaA p.K830K NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 830 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 CAGGGGAGAAGCCCTATGTCT 0.587000 HNSCC(3;0.000094) 28 95 0 0 0.760397 0 0 KANK2 25959 broad.mit.edu 37 19 11303539 11303539 + Missense_Mutation SNP C C T TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr19:11303539C>T ENST00000432929.2 - 4 1577 c.1217G>A c.(1216-1218)aGc>aAc p.S406N KANK2_ENST00000355150.5_Missense_Mutation_p.S406N|KANK2_ENST00000586659.1_Missense_Mutation_p.S406N|KANK2_ENST00000589894.1_Missense_Mutation_p.S406N|KANK2_ENST00000589359.1_Missense_Mutation_p.S406N NM_001136191.2 NP_001129663.1 Q63ZY3 KANK2_HUMAN KN motif and ankyrin repeat domains 2 406 endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 CTCTGTGATGCTAATCTTCTT 0.612000 18 88 0 0 0.624587 0 0 RNF17 56163 broad.mit.edu 37 13 25425618 25425618 + Missense_Mutation SNP C C T TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr13:25425618C>T ENST00000255324.5 + 24 3281 c.3229C>T c.(3229-3231)Cct>Tct p.P1077S RNF17_ENST00000381921.1_Missense_Mutation_p.P1077S|RNF17_ENST00000339524.3_Missense_Mutation_p.P129S NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 1077 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) ATGGCCATTACCTGTGAAAAT 0.343000 11 60 0 0 0.361761 0 0 SEC22B 9554 broad.mit.edu 37 1 145109975 145109976 + RNA INS - - C rs67257307 TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr1:145109975_145109976insC ENST00000453618.1 + 0 673 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding CAGGAACTTTGCTAAAGATCTA 0.386 2 4 --- --- --- --- R3HDM1 23518 broad.mit.edu 37 2 136389572 136389575 + Splice_Site DEL GTAA GTAA - TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr2:136389572_136389575delGTAA ENST00000264160.4 + 9 1068 c.e9+1 R3HDM1_ENST00000409606.1_Splice_Site|R3HDM1_ENST00000409478.1_Splice_Site|R3HDM1_ENST00000410054.1_Splice_Site|R3HDM1_ENST00000329971.3_Splice_Site NM_015361.2 NP_056176.2 Q15032 R3HD1_HUMAN R3H domain containing 1 nucleic acid binding breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 38 BRCA - Breast invasive adenocarcinoma(221;0.127) ATACAAGAATGTAAGTGTCAAGAG 0.324 29 106 --- --- --- --- SPOCK3 50859 broad.mit.edu 37 4 167810286 167810287 + Frame_Shift_Del DEL TT TT - TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr4:167810286_167810287delTT ENST00000357154.3 - 7 729_730 c.592_593delAA c.(592-594)gfs p.K198fs SPOCK3_ENST00000357545.4_Frame_Shift_Del_p.K195fs|SPOCK3_ENST00000541637.1_Frame_Shift_Del_p.K100fs|SPOCK3_ENST00000541354.1_Frame_Shift_Del_p.K78fs|SPOCK3_ENST00000535728.1_Frame_Shift_Del_p.K106fs|SPOCK3_ENST00000534949.1_Frame_Shift_Del_p.K102fs|SPOCK3_ENST00000511531.1_Frame_Shift_Del_p.K198fs|SPOCK3_ENST00000504953.1_Frame_Shift_Del_p.K195fs|SPOCK3_ENST00000421836.2_Frame_Shift_Del_p.K147fs|SPOCK3_ENST00000511269.1_Frame_Shift_Del_p.K195fs|SPOCK3_ENST00000510741.1_Frame_Shift_Del_p.K195fs|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512648.1_Frame_Shift_Del_p.K195fs|SPOCK3_ENST00000502330.1_Frame_Shift_Del_p.K198fs|SPOCK3_ENST00000506886.1_Frame_Shift_Del_p.K198fs|SPOCK3_ENST00000512681.1_Frame_Shift_Del_p.K100fs NM_016950.2 NP_058646.2 Q9BQ16 TICN3_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 198 signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 38 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) CTTACCTCTCTTAACATTTCTG 0.337 33 80 --- --- --- --- RP11-122F24.1 0 broad.mit.edu 37 5 7045029 7045029 + RNA DEL T T - TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr5:7045029delT ENST00000512838.1 + 0 154 tctttctttcttttttttttt 0.463 2 4 --- --- --- --- GFPT2 9945 broad.mit.edu 37 5 179744060 179744061 + Splice_Site DEL TG TG - TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr5:179744060_179744061delTG ENST00000253778.8 - 11 1128 c.e11-2 GFPT2_ENST00000520165.1_Splice_Site NM_005110.2 NP_005101.1 O94808 GFPT2_HUMAN glutamine-fructose-6-phosphate transaminase 2 dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) Medulloblastoma(196;0.0392)|all_neural(177;0.0529) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) L-Glutamine(DB00130) TGAAGTTACCTGGTCAAATAAA 0.391 27 103 --- --- --- --- ADAMTS14 140766 broad.mit.edu 37 10 72493665 72493665 + Frame_Shift_Del DEL G G - TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr10:72493665delG ENST00000373208.1 + 8 1242 c.1242delG c.(1240-1242)cafs p.Q414fs ADAMTS14_ENST00000373207.1_Frame_Shift_Del_p.Q411fs NM_139155.2 NP_631894.2 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 14 411 Peptidase M12B. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 ATGACGGTCAGGGGAATGGCT 0.652 19 93 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7579694 7579699 + Splice_Site DEL CCTTAC CCTTAC - TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1 b8f9db26-3096-4ad2-9b45-530bccdc8612 g.chr17:7579694_7579699delCCTTAC ENST00000420246.2 - 3 229 c.e3+1 TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 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.?(11)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(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) cAACCCTTGTCCTTACCAGAACGTTG 0.587 111 """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) 8 46 --- --- --- ---