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 NUP205 23165 broad.mit.edu 37 7 135300708 135300708 + Missense_Mutation SNP A A G TCGA-J4-A67L-01A-11D-A30E-08 TCGA-J4-A67L-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7657dad4-c2db-417a-a77c-4de308ef3f61 046e13f7-4c6e-4ee1-97c8-8adf4fa21c42 g.chr7:135300708A>G ENST00000285968.6 + 24 3381 c.3355A>G c.(3355-3357)Act>Gct p.T1119A NM_015135.2 NP_055950.1 Q92621 NU205_HUMAN nucleoporin 205kDa 1119 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GCTTATGAAAACTGCCTCAAT 0.393000 17 45 0 0 1 0 0 ZNF253 56242 broad.mit.edu 37 19 20002792 20002792 + Missense_Mutation SNP C C T TCGA-J4-A67L-01A-11D-A30E-08 TCGA-J4-A67L-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7657dad4-c2db-417a-a77c-4de308ef3f61 046e13f7-4c6e-4ee1-97c8-8adf4fa21c42 g.chr19:20002792C>T ENST00000589717.1 + 4 828 c.736C>T c.(736-738)Cat>Tat p.H246Y ZNF253_ENST00000355650.4_Missense_Mutation_p.H170Y NM_021047.2 NP_066385.2 O75346 ZN253_HUMAN zinc finger protein 253 246 Missing (in Ref. 1; AAC26844). negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CCTTACTACACATAAGAAAAT 0.398000 9 83 0 0 1 0 0 GTF3C1 2975 broad.mit.edu 37 16 27481507 27481507 + Missense_Mutation SNP A A G TCGA-J4-A67L-01A-11D-A30E-08 TCGA-J4-A67L-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7657dad4-c2db-417a-a77c-4de308ef3f61 046e13f7-4c6e-4ee1-97c8-8adf4fa21c42 g.chr16:27481507A>G ENST00000356183.4 - 31 4751 c.4736T>C c.(4735-4737)cTc>cCc p.L1579P GTF3C1_ENST00000561623.1_Missense_Mutation_p.L1579P NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 1579 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 CACAGAAATGAGGCCCAGAGA 0.542000 5 219 0 0 1 0 0 ZFP37 7539 broad.mit.edu 37 9 115805634 115805634 + Missense_Mutation SNP C C T TCGA-J4-A67L-01A-11D-A30E-08 TCGA-J4-A67L-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7657dad4-c2db-417a-a77c-4de308ef3f61 046e13f7-4c6e-4ee1-97c8-8adf4fa21c42 g.chr9:115805634C>T ENST00000374227.3 - 4 1291 c.1264G>A c.(1264-1266)Gaa>Aaa p.E422K ZFP37_ENST00000555206.1_Missense_Mutation_p.E423K|ZFP37_ENST00000553380.1_Missense_Mutation_p.E437K Q9Y6Q3 ZFP37_HUMAN ZFP37 zinc finger protein 422 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 CTCACATGTTCGGTAAGAGAT 0.378000 18 79 0 0 1 0 0 NLRP4 147945 broad.mit.edu 37 19 56379186 56379186 + Silent SNP C C T TCGA-J4-A67L-01A-11D-A30E-08 TCGA-J4-A67L-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7657dad4-c2db-417a-a77c-4de308ef3f61 046e13f7-4c6e-4ee1-97c8-8adf4fa21c42 g.chr19:56379186C>T ENST00000301295.6 + 6 2720 c.2298C>T c.(2296-2298)ggC>ggT p.G766G NLRP4_ENST00000346986.5_Intron|NLRP4_ENST00000587891.1_Silent_p.G691G NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 766 ATP binding p.G766G(1) 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) TAGACACAGGCGTGCCCCTTT 0.542000 5 102 0 0 1 0 0 METRN 79006 broad.mit.edu 37 16 767073 767073 + Missense_Mutation SNP A A G TCGA-J4-A67L-01A-11D-A30E-08 TCGA-J4-A67L-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7657dad4-c2db-417a-a77c-4de308ef3f61 046e13f7-4c6e-4ee1-97c8-8adf4fa21c42 g.chr16:767073A>G ENST00000568223.2 + 4 743 c.568A>G c.(568-570)Att>Gtt p.I190V METRN_ENST00000568415.1_Missense_Mutation_p.I57V NM_024042.2 NP_076947.1 Q9UJH8 METRN_HUMAN meteorin, glial cell differentiation regulator 190 skin(1) 1 Hepatocellular(780;0.00335) CCCCACAGTAATTCACGGGAT 0.642000 19 31 0 0 1 0 0 ARAP1 116985 broad.mit.edu 37 11 72403811 72403811 + Missense_Mutation SNP C C T TCGA-J4-A67L-01A-11D-A30E-08 TCGA-J4-A67L-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7657dad4-c2db-417a-a77c-4de308ef3f61 046e13f7-4c6e-4ee1-97c8-8adf4fa21c42 g.chr11:72403811C>T ENST00000393609.3 - 30 4176 c.3974G>A c.(3973-3975)gGg>gAg p.G1325E ARAP1_ENST00000393605.3_Missense_Mutation_p.G1085E|ARAP1_ENST00000359373.5_Intron|ARAP1_ENST00000334211.8_Missense_Mutation_p.G1080E|ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000495878.1_Intron|ARAP1_ENST00000455638.2_Intron|ARAP1_ENST00000429686.1_Intron|ARAP1_ENST00000426523.1_Intron NM_001040118.2 NP_001035207.1 Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 1325 PH 4. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 CTCAGGGGCCCCGCTCCACGG 0.612000 18 44 0 0 1 0 0 RBBP6 5930 broad.mit.edu 37 16 24567694 24567694 + Missense_Mutation SNP G G C TCGA-J4-A67L-01A-11D-A30E-08 TCGA-J4-A67L-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7657dad4-c2db-417a-a77c-4de308ef3f61 046e13f7-4c6e-4ee1-97c8-8adf4fa21c42 g.chr16:24567694G>C ENST00000319715.4 + 7 1032 c.600G>C c.(598-600)atG>atC p.M200I RBBP6_ENST00000381039.3_Missense_Mutation_p.M200I|RBBP6_ENST00000348022.2_Missense_Mutation_p.M200I NM_006910.4 NP_008841.2 Q7Z6E9 RBBP6_HUMAN retinoblastoma binding protein 6 200 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) GTTTCATGATGGAAGTGAAAG 0.378000 14 66 0 0 1 0 0 HELZ 9931 broad.mit.edu 37 17 65174992 65174992 + Missense_Mutation SNP G G A TCGA-J4-A67L-01A-11D-A30E-08 TCGA-J4-A67L-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7657dad4-c2db-417a-a77c-4de308ef3f61 046e13f7-4c6e-4ee1-97c8-8adf4fa21c42 g.chr17:65174992G>A ENST00000358691.5 - 13 1379 c.1213C>T c.(1213-1215)Cgt>Tgt p.R405C HELZ_ENST00000580168.1_Missense_Mutation_p.R405C NM_014877.3 NP_055692.2 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) GAATCCCAACGTTTAGCTGTG 0.348000 13 92 0 0 1 0 0 NRXN3 9369 broad.mit.edu 37 14 79434627 79434627 + Missense_Mutation SNP G G A TCGA-J4-A67L-01A-11D-A30E-08 TCGA-J4-A67L-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7657dad4-c2db-417a-a77c-4de308ef3f61 046e13f7-4c6e-4ee1-97c8-8adf4fa21c42 g.chr14:79434627G>A ENST00000554719.1 + 11 2452 c.1961G>A c.(1960-1962)cGc>cAc p.R654H NRXN3_ENST00000335750.5_Missense_Mutation_p.R654H NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 260 angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) TTGAATGGACGCCTGCCAGAC 0.522000 20 65 0 0 1 0 0 SDCBP 6386 broad.mit.edu 37 8 59490716 59490716 + Missense_Mutation SNP A A T TCGA-J4-A67L-01A-11D-A30E-08 TCGA-J4-A67L-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7657dad4-c2db-417a-a77c-4de308ef3f61 046e13f7-4c6e-4ee1-97c8-8adf4fa21c42 g.chr8:59490716A>T ENST00000523483.1 + 7 2101 c.587A>T c.(586-588)aAg>aTg p.K196M SDCBP_ENST00000520168.1_Missense_Mutation_p.K117M|SDCBP_ENST00000424270.2_Missense_Mutation_p.K170M|SDCBP_ENST00000447182.2_Missense_Mutation_p.K175M|SDCBP_ENST00000447267.2_Missense_Mutation_p.K122M|SDCBP_ENST00000413219.2_Missense_Mutation_p.K176M|SDCBP_ENST00000260130.4_Missense_Mutation_p.K176M|SDCBP_ENST00000422546.2_Missense_Mutation_p.K175M O00560 SDCB1_HUMAN syndecan binding protein (syntenin) 176 actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 8 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) AAAGCGCACAAGGTGCTCAAA 0.428000 19 64 0 0 1 0 0 AQR 9716 broad.mit.edu 37 15 35210531 35210531 + Missense_Mutation SNP T T C TCGA-J4-A67L-01A-11D-A30E-08 TCGA-J4-A67L-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7657dad4-c2db-417a-a77c-4de308ef3f61 046e13f7-4c6e-4ee1-97c8-8adf4fa21c42 g.chr15:35210531T>C ENST00000156471.5 - 15 1495 c.1270A>G c.(1270-1272)Atg>Gtg p.M424V NM_014691.2 NP_055506.1 O60306 AQR_HUMAN aquarius intron-binding spliceosomal factor 424 catalytic step 2 spliceosome RNA binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 57 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) TACAAAGGCATCTGGTTCAAC 0.368000 11 49 0 0 1 0 0 ZNF595 152687 broad.mit.edu 37 4 59355 59355 + Missense_Mutation SNP A A T TCGA-J4-A67L-01A-11D-A30E-08 TCGA-J4-A67L-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7657dad4-c2db-417a-a77c-4de308ef3f61 046e13f7-4c6e-4ee1-97c8-8adf4fa21c42 g.chr4:59355A>T ENST00000509152.2 + 2 221 c.36A>T c.(34-36)gaA>gaT p.E12D ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Missense_Mutation_p.E12D zinc finger protein 595 endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2) 20 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) TGGCCATAGAATTCTCCCCTG 0.428000 13 516 0 0 1 0 0 FAM129B 64855 broad.mit.edu 37 9 130286023 130286023 + Missense_Mutation SNP A A G TCGA-J4-A67L-01A-11D-A30E-08 TCGA-J4-A67L-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7657dad4-c2db-417a-a77c-4de308ef3f61 046e13f7-4c6e-4ee1-97c8-8adf4fa21c42 g.chr9:130286023A>G ENST00000373312.3 - 5 737 c.524T>C c.(523-525)aTg>aCg p.M175T FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Missense_Mutation_p.M162T NM_022833.2 NP_073744.2 Q96TA1 NIBL1_HUMAN family with sequence similarity 129, member B 175 PH. protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 GGCTTCTGTCATCATGCAGAA 0.607000 OREG0019507 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 80 0 0 1 0 0 GRM8 0 broad.mit.edu 37 7 126173392 126173392 + Missense_Mutation SNP T T C TCGA-J4-A67L-01A-11D-A30E-08 TCGA-J4-A67L-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7657dad4-c2db-417a-a77c-4de308ef3f61 046e13f7-4c6e-4ee1-97c8-8adf4fa21c42 g.chr7:126173392T>C ENST00000339582.2 - 9 2852 c.2044A>G c.(2044-2046)Aaa>Gaa p.K682E GRM8_ENST00000444921.2_Missense_Mutation_p.K682E|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.K682E O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 682 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) GTGACAGATTTCTTCCCCTGC 0.507000 HNSCC(24;0.065) 7 91 0 0 1 0 0 CDH2 1000 broad.mit.edu 37 18 25565628 25565628 + Silent SNP G G A TCGA-J4-A67L-01A-11D-A30E-08 TCGA-J4-A67L-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7657dad4-c2db-417a-a77c-4de308ef3f61 046e13f7-4c6e-4ee1-97c8-8adf4fa21c42 g.chr18:25565628G>A ENST00000269141.3 - 12 2262 c.1839C>T c.(1837-1839)tgC>tgT p.C613C CDH2_ENST00000399380.3_Silent_p.C582C NM_001792.3 NP_001783.2 P19022 CADH2_HUMAN cadherin 2, type 1, N-cadherin (neuronal) 613 Cadherin 5. adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CTGGAGTTTCGCAAGTCTCTG 0.408000 4 62 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577536 7577536 + Missense_Mutation SNP T T C TCGA-J4-A67L-01A-11D-A30E-08 TCGA-J4-A67L-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7657dad4-c2db-417a-a77c-4de308ef3f61 046e13f7-4c6e-4ee1-97c8-8adf4fa21c42 g.chr17:7577536T>C ENST00000420246.2 - 7 877 c.745A>G c.(745-747)Agg>Ggg p.R249G TP53_ENST00000359597.4_Missense_Mutation_p.R249G|TP53_ENST00000455263.2_Missense_Mutation_p.R249G|TP53_ENST00000413465.2_Missense_Mutation_p.R249G|TP53_ENST00000445888.2_Missense_Mutation_p.R249G|TP53_ENST00000269305.4_Missense_Mutation_p.R249G NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 249 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity). R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; dbSNP:rs28934571).|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (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.R249W(37)|p.R249G(30)|p.0?(8)|p.?(5)|p.M246_P250delMNRRP(2)|p.R249R(1)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.N247_R248delNR(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.G245fs*14(1)|p.R249fs*15(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.R249fs*19(1)|p.R249_I251delRPI(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) AGGATGGGCCTCCGGTTCATG 0.567000 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) 16 54 0 0 1 0 0 HK3 3101 broad.mit.edu 37 5 176308519 176308519 + Missense_Mutation SNP C C T TCGA-J4-A67L-01A-11D-A30E-08 TCGA-J4-A67L-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7657dad4-c2db-417a-a77c-4de308ef3f61 046e13f7-4c6e-4ee1-97c8-8adf4fa21c42 g.chr5:176308519C>T ENST00000292432.5 - 18 2502 c.2411G>A c.(2410-2412)cGg>cAg p.R804Q NM_002115.2 NP_002106.2 P52790 HXK3_HUMAN hexokinase 3 (white cell) 804 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCGGACCTGCCGCAGGGCCAG 0.637000 5 37 0 0 1 0 0 PRDM8 56978 broad.mit.edu 37 4 81123567 81123567 + Silent SNP G G A TCGA-J4-A67L-01A-11D-A30E-08 TCGA-J4-A67L-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7657dad4-c2db-417a-a77c-4de308ef3f61 046e13f7-4c6e-4ee1-97c8-8adf4fa21c42 g.chr4:81123567G>A ENST00000339711.4 + 10 2182 c.951G>A c.(949-951)ccG>ccA p.P317P PRDM8_ENST00000415738.2_Silent_p.P317P|PRDM8_ENST00000504452.1_Silent_p.P317P NM_020226.3 NP_064611.3 Q9NQV8 PRDM8_HUMAN PR domain containing 8 317 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2) 10 GGAAATTCCCGGAGGAGGCGG 0.741000 3 11 0 0 1 0 0 ATP2A1 487 broad.mit.edu 37 16 28900188 28900188 + Missense_Mutation SNP C C T TCGA-J4-A67L-01A-11D-A30E-08 TCGA-J4-A67L-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7657dad4-c2db-417a-a77c-4de308ef3f61 046e13f7-4c6e-4ee1-97c8-8adf4fa21c42 g.chr16:28900188C>T ENST00000395503.4 + 9 1193 c.1009C>T c.(1009-1011)Ccc>Tcc p.P337S ATP2A1_ENST00000357084.3_Missense_Mutation_p.P337S|ATP2A1_ENST00000536376.1_Missense_Mutation_p.P212S NM_004320.4 NP_004311.1 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 337 apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 38 AAGAAGCTTGCCCTCCGTAGA 0.587000 5 302 0 0 1 0 0 ZNF827 152485 broad.mit.edu 37 4 146823320 146823320 + Nonsense_Mutation SNP G G C TCGA-J4-A67L-01A-11D-A30E-08 TCGA-J4-A67L-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7657dad4-c2db-417a-a77c-4de308ef3f61 046e13f7-4c6e-4ee1-97c8-8adf4fa21c42 g.chr4:146823320G>C ENST00000508784.1 - 2 1318 c.1091C>G c.(1090-1092)tCa>tGa p.S364* ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Nonsense_Mutation_p.S364* Q17R98 ZN827_HUMAN zinc finger protein 827 364 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) TGCCATACCTGAATTGGAGGG 0.448000 5 39 0 0 1 0 0 CCDC18 343099 broad.mit.edu 37 1 93646352 93646352 + Missense_Mutation SNP C C G TCGA-J4-A67L-01A-11D-A30E-08 TCGA-J4-A67L-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7657dad4-c2db-417a-a77c-4de308ef3f61 046e13f7-4c6e-4ee1-97c8-8adf4fa21c42 g.chr1:93646352C>G ENST00000557479.1 + 1 433 c.265C>G c.(265-267)Cgg>Ggg p.R89G CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000401026.3_5'UTR|CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000343253.7_Intron NM_206886.3 NP_996769.3 Q5T9S5 CCD18_HUMAN coiled-coil domain containing 18 0 breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) CGCAGGGGCCCGGGAAAGGGT 0.672000 15 57 0 0 1 0 0 ADCY10 55811 broad.mit.edu 37 1 167823646 167823646 + Silent SNP A A C TCGA-J4-A67L-01A-11D-A30E-08 TCGA-J4-A67L-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7657dad4-c2db-417a-a77c-4de308ef3f61 046e13f7-4c6e-4ee1-97c8-8adf4fa21c42 g.chr1:167823646A>C ENST00000367848.1 - 18 2474 c.1977T>G c.(1975-1977)gtT>gtG p.V659V ADCY10_ENST00000545172.1_Silent_p.V598V|ADCY10_ENST00000367851.4_Silent_p.V751V Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 751 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 TTTGTTGGAAAACGAGTACCT 0.443000 22 96 0 0 1 0 0 ZC3H18 124245 broad.mit.edu 37 16 88688651 88688651 + Nonsense_Mutation SNP C C T TCGA-J4-A67L-01A-11D-A30E-08 TCGA-J4-A67L-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7657dad4-c2db-417a-a77c-4de308ef3f61 046e13f7-4c6e-4ee1-97c8-8adf4fa21c42 g.chr16:88688651C>T ENST00000301011.5 + 9 1722 c.1522C>T c.(1522-1524)Cag>Tag p.Q508* ZC3H18_ENST00000452588.2_Nonsense_Mutation_p.Q532* NM_144604.3 NP_653205.3 Q86VM9 ZCH18_HUMAN zinc finger CCCH-type containing 18 508 nucleus nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 42 BRCA - Breast invasive adenocarcinoma(80;0.0542) CACGGGGCCGCAGGTGAAGAG 0.602000 5 28 0 0 1 0 0 FBXL6 26233 broad.mit.edu 37 8 145579796 145579796 + Missense_Mutation SNP G G T TCGA-J4-A67L-01A-11D-A30E-08 TCGA-J4-A67L-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7657dad4-c2db-417a-a77c-4de308ef3f61 046e13f7-4c6e-4ee1-97c8-8adf4fa21c42 g.chr8:145579796G>T ENST00000331890.5 - 8 1368 c.1304C>A c.(1303-1305)aCc>aAc p.T435N FBXL6_ENST00000526524.1_Intron|FBXL6_ENST00000455319.2_Missense_Mutation_p.T429N NM_012162.2 NP_036294.1 Q8N531 FBXL6_HUMAN F-box and leucine-rich repeat protein 6 435 proteolysis ubiquitin-protein ligase activity endometrium(1)|lung(3)|ovary(1) 5 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) CCACTTCTGGGTCAAAAAGGG 0.582000 4 134 0.00909568 0.00929341 1 1 0 WDR17 116966 broad.mit.edu 37 4 177071069 177071069 + Missense_Mutation SNP T T C TCGA-J4-A67L-01A-11D-A30E-08 TCGA-J4-A67L-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7657dad4-c2db-417a-a77c-4de308ef3f61 046e13f7-4c6e-4ee1-97c8-8adf4fa21c42 g.chr4:177071069T>C ENST00000393643.2 + 14 2261 c.2009T>C c.(2008-2010)cTg>cCg p.L670P WDR17_ENST00000507824.2_Missense_Mutation_p.L677P|WDR17_ENST00000508596.1_Missense_Mutation_p.L670P|WDR17_ENST00000280190.4_Missense_Mutation_p.L694P NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 694 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) ATAAATATTCTGGCAGACAGA 0.393000 4 155 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62758468 62758468 + Silent SNP G G A rs145773574 by1000genomes TCGA-J4-A67L-01A-11D-A30E-08 TCGA-J4-A67L-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7657dad4-c2db-417a-a77c-4de308ef3f61 046e13f7-4c6e-4ee1-97c8-8adf4fa21c42 g.chr4:62758468G>A ENST00000512091.1 + 9 2118 c.1371G>A c.(1369-1371)ccG>ccA p.P457P LPHN3_ENST00000514157.1_Silent_p.P457P|LPHN3_ENST00000509896.1_Silent_p.P525P|LPHN3_ENST00000508946.1_Silent_p.P457P|LPHN3_ENST00000545650.1_Silent_p.P457P|LPHN3_ENST00000508693.1_Silent_p.P525P|LPHN3_ENST00000507625.1_Silent_p.P525P|LPHN3_ENST00000514591.1_Silent_p.P457P|LPHN3_ENST00000507164.1_Silent_p.P525P|LPHN3_ENST00000506746.1_Silent_p.P525P|LPHN3_ENST00000511324.1_Silent_p.P525P|LPHN3_ENST00000506720.1_Silent_p.P525P|LPHN3_ENST00000504896.1_Silent_p.P457P|LPHN3_ENST00000514996.1_Silent_p.P457P|LPHN3_ENST00000506700.1_Silent_p.P457P Q9HAR2 LPHN3_HUMAN latrophilin 3 457 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 GTACCACCCCGTCAGTGTCAG 0.522000 24 131 0 0 1 0 0 DPH7 92715 broad.mit.edu 37 9 140468754 140468754 + Missense_Mutation SNP C C G TCGA-J4-A67L-01A-11D-A30E-08 TCGA-J4-A67L-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7657dad4-c2db-417a-a77c-4de308ef3f61 046e13f7-4c6e-4ee1-97c8-8adf4fa21c42 g.chr9:140468754C>G ENST00000277540.2 - 5 703 c.546G>C c.(544-546)agG>agC p.R182S DPH7_ENST00000479650.1_5'UTR NM_138778.2 NP_620133.1 diphthamide biosynthesis 7 GCAGCCTGGGCCTCGTCTCAT 0.542000 37 150 0 0 1 0 0 EXOSC9 5393 broad.mit.edu 37 4 122723880 122723880 + Silent SNP A A C TCGA-J4-A67L-01A-11D-A30E-08 TCGA-J4-A67L-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7657dad4-c2db-417a-a77c-4de308ef3f61 046e13f7-4c6e-4ee1-97c8-8adf4fa21c42 g.chr4:122723880A>C ENST00000512454.1 + 2 381 c.165A>C c.(163-165)gcA>gcC p.A55A EXOSC9_ENST00000243498.5_Silent_p.A71A|EXOSC9_ENST00000379663.3_Silent_p.A71A|EXOSC9_ENST00000509980.1_3'UTR Q06265 EXOS9_HUMAN exosome component 9 71 ARE binding. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus 3'-5'-exoribonuclease activity|AU-rich element binding|protein binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1) 16 TCAATCGGGCAACAGAAGGTA 0.388000 19 78 0 0 1 0 0 CD200R1L 344807 broad.mit.edu 37 3 112538718 112538718 + Missense_Mutation SNP G G A TCGA-J4-A67L-01A-11D-A30E-08 TCGA-J4-A67L-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7657dad4-c2db-417a-a77c-4de308ef3f61 046e13f7-4c6e-4ee1-97c8-8adf4fa21c42 g.chr3:112538718G>A ENST00000488794.1 - 7 1230 c.641C>T c.(640-642)gCg>gTg p.A214V CD200R1L_ENST00000398214.1_Missense_Mutation_p.A235V|CD200R1L_ENST00000448932.1_Missense_Mutation_p.A214V Q6Q8B3 MO2R2_HUMAN CD200 receptor 1-like 235 Ig-like C2-type. integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2) 19 TAAGGACAACGCTGGAGATCC 0.373000 15 50 0 0 1 0 0 PCDHA6 0 broad.mit.edu 37 5 140209377 140209377 + Silent SNP G G A TCGA-J4-A67L-01A-11D-A30E-08 TCGA-J4-A67L-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7657dad4-c2db-417a-a77c-4de308ef3f61 046e13f7-4c6e-4ee1-97c8-8adf4fa21c42 g.chr5:140209377G>A ENST00000529310.1 + 1 1815 c.1701G>A c.(1699-1701)gcG>gcA p.A567A PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCTGCTGGCGCCTCGGGTGG 0.701000 38 186 0 0 1 0 0 PSG3 5671 broad.mit.edu 37 19 43233351 43233351 + Silent SNP G G A TCGA-J4-A67L-01A-11D-A30E-08 TCGA-J4-A67L-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7657dad4-c2db-417a-a77c-4de308ef3f61 046e13f7-4c6e-4ee1-97c8-8adf4fa21c42 g.chr19:43233351G>A ENST00000327495.5 - 5 1351 c.1167C>T c.(1165-1167)agC>agT p.S389S PSG3_ENST00000595140.1_Silent_p.S389S NM_021016.3 NP_066296.2 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 389 Ig-like C2-type 3. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) CATAGAGCCCGCTATGCTTTG 0.468000 5 378 0 0 1 0 0 CD1E 913 broad.mit.edu 37 1 158325304 158325304 + Silent SNP C C T TCGA-J4-A67L-01A-11D-A30E-08 TCGA-J4-A67L-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7657dad4-c2db-417a-a77c-4de308ef3f61 046e13f7-4c6e-4ee1-97c8-8adf4fa21c42 g.chr1:158325304C>T ENST00000444681.2 + 2 566 c.273C>T c.(271-273)tgC>tgT p.C91C CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368163.3_Silent_p.C190C|CD1E_ENST00000368167.3_Silent_p.C190C|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368161.3_Silent_p.C190C|CD1E_ENST00000368160.3_Silent_p.C190C|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000434258.1_Silent_p.C188C NM_001185114.1 NP_001172043.1 P15812 CD1E_HUMAN CD1e molecule 190 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) GTCACACCTGCCCTCGATTTC 0.507000 16 41 0 0 1 0 0 PLXNB1 5364 broad.mit.edu 37 3 48465260 48465260 + Missense_Mutation SNP C C T TCGA-J4-A67L-01A-11D-A30E-08 TCGA-J4-A67L-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7657dad4-c2db-417a-a77c-4de308ef3f61 046e13f7-4c6e-4ee1-97c8-8adf4fa21c42 g.chr3:48465260C>T ENST00000358536.4 - 3 1030 c.761G>A c.(760-762)cGg>cAg p.R254Q PLXNB1_ENST00000456774.1_Missense_Mutation_p.R254Q|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000296440.6_Missense_Mutation_p.R254Q|PLXNB1_ENST00000358459.4_Missense_Mutation_p.R254Q NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 254 Sema. axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GTGCTGGTCCCGGAGACACAC 0.622000 10 92 0 0 1 0 0 ZC3H18 124245 broad.mit.edu 37 16 88688650 88688650 + Silent SNP G G C TCGA-J4-A67L-01A-11D-A30E-08 TCGA-J4-A67L-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7657dad4-c2db-417a-a77c-4de308ef3f61 046e13f7-4c6e-4ee1-97c8-8adf4fa21c42 g.chr16:88688650G>C ENST00000301011.5 + 9 1721 c.1521G>C c.(1519-1521)ccG>ccC p.P507P ZC3H18_ENST00000452588.2_Silent_p.P531P NM_144604.3 NP_653205.3 Q86VM9 ZCH18_HUMAN zinc finger CCCH-type containing 18 507 nucleus nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 42 BRCA - Breast invasive adenocarcinoma(80;0.0542) CCACGGGGCCGCAGGTGAAGA 0.602000 5 28 0 0 1 0 0 UTRN 7402 broad.mit.edu 37 6 144844318 144844318 + Missense_Mutation SNP G G A TCGA-J4-A67L-01A-11D-A30E-08 TCGA-J4-A67L-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7657dad4-c2db-417a-a77c-4de308ef3f61 046e13f7-4c6e-4ee1-97c8-8adf4fa21c42 g.chr6:144844318G>A ENST00000367545.3 + 40 5900 c.5900G>A c.(5899-5901)cGg>cAg p.R1967Q NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 1967 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding p.R1967L(1) NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) TACAGTGATCGGAAAGGGTAT 0.378000 11 38 0 0 1 0 0 IGHV4-39 0 broad.mit.edu 37 14 106877737 106877737 + RNA SNP T T C TCGA-J4-A67L-01A-11D-A30E-08 TCGA-J4-A67L-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7657dad4-c2db-417a-a77c-4de308ef3f61 046e13f7-4c6e-4ee1-97c8-8adf4fa21c42 g.chr14:106877737T>C ENST00000390619.2 - 0 306 CGGGTTGTAGTAGGTGCTCCC 0.567000 23 372 0 0 1 0 0 SPPL2A 84888 broad.mit.edu 37 15 51028899 51028899 + Missense_Mutation SNP T T C TCGA-J4-A67L-01A-11D-A30E-08 TCGA-J4-A67L-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7657dad4-c2db-417a-a77c-4de308ef3f61 046e13f7-4c6e-4ee1-97c8-8adf4fa21c42 g.chr15:51028899T>C ENST00000261854.5 - 7 1046 c.772A>G c.(772-774)Atg>Gtg p.M258V NM_032802.3 NP_116191.2 Q8TCT8 PSL2_HUMAN signal peptide peptidase like 2A 258 integral to membrane aspartic-type endopeptidase activity endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 15 all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314) TACAGACTCATTGCTGATGCT 0.318000 4 49 0 0 1 0 0 ZNF528 84436 broad.mit.edu 37 19 52919156 52919156 + Missense_Mutation SNP A A G TCGA-J4-A67L-01A-11D-A30E-08 TCGA-J4-A67L-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7657dad4-c2db-417a-a77c-4de308ef3f61 046e13f7-4c6e-4ee1-97c8-8adf4fa21c42 g.chr19:52919156A>G ENST00000360465.3 + 7 1477 c.1051A>G c.(1051-1053)Aaa>Gaa p.K351E ZNF528_ENST00000391788.2_3'UTR NM_032423.2 NP_115799.2 Q3MIS6 ZN528_HUMAN zinc finger protein 528 351 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 39 GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817) TACTGGTGAGAAACCTTACAA 0.388000 16 68 0 0 1 0 0 MRPS18C 51023 broad.mit.edu 37 4 84377254 84377254 + Silent SNP C C T rs141532727 byFrequency TCGA-J4-A67L-01A-11D-A30E-08 TCGA-J4-A67L-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7657dad4-c2db-417a-a77c-4de308ef3f61 046e13f7-4c6e-4ee1-97c8-8adf4fa21c42 g.chr4:84377254C>T ENST00000295491.4 + 1 137 c.24C>T c.(22-24)tgC>tgT p.C8C MRPS18C_ENST00000507349.1_Silent_p.C8C|MRPS18C_ENST00000507019.1_Silent_p.C8C NM_016067.2 NP_057151.1 Q9Y3D5 RT18C_HUMAN mitochondrial ribosomal protein S18C 8 translation mitochondrial small ribosomal subunit structural constituent of ribosome endometrium(1)|kidney(1)|large_intestine(2)|lung(1) 5 Hepatocellular(203;0.114) TTGCTGTTTGCGGTGGTCTAG 0.552000 5 315 0 0 1 0 0 ST8SIA1 6489 broad.mit.edu 37 12 22354692 22354692 + Nonsense_Mutation SNP C C A TCGA-J4-A67L-01A-11D-A30E-08 TCGA-J4-A67L-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7657dad4-c2db-417a-a77c-4de308ef3f61 046e13f7-4c6e-4ee1-97c8-8adf4fa21c42 g.chr12:22354692C>A ENST00000396037.4 - 5 1346 c.865G>T c.(865-867)Gag>Tag p.E289* ST8SIA1_ENST00000539510.1_Nonsense_Mutation_p.E146* NM_003034.3 NP_003025.1 Q92185 SIA8A_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 289 glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 25 ATGGCCACCTCTTCACAGAGA 0.512000 19 80 1.67942e-08 1.75406e-08 1 1 0 SSPO 23145 broad.mit.edu 37 7 149509149 149509149 + RNA SNP C C T TCGA-J4-A67L-01A-11D-A30E-08 TCGA-J4-A67L-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7657dad4-c2db-417a-a77c-4de308ef3f61 046e13f7-4c6e-4ee1-97c8-8adf4fa21c42 g.chr7:149509149C>T ENST00000378016.2 + 0 9695 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) ACCCCCACACCTCTCTGCTCA 0.697000 20 56 0 0 1 0 0 SKIDA1 387640 broad.mit.edu 37 10 21805466 21805467 + In_Frame_Ins INS - - CCTCCT rs138084841 by1000genomes TCGA-J4-A67L-01A-11D-A30E-08 TCGA-J4-A67L-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7657dad4-c2db-417a-a77c-4de308ef3f61 046e13f7-4c6e-4ee1-97c8-8adf4fa21c42 g.chr10:21805466_21805467insCCTCCT ENST00000449193.2 - 4 3537_3538 c.1285_1286insAGGAGG c.(1285-1287)ggg>AGGAGGggg p.428_429insRR SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insRR NM_207371.3 NP_997254.3 SKI/DACH domain containing 1 p.E428_G429insEE(2) CCCGCTGCccccctcctcctcc 0.619 4 4 --- --- --- --- GOLGA8DP 0 broad.mit.edu 37 15 22709885 22709885 + RNA DEL G G - TCGA-J4-A67L-01A-11D-A30E-08 TCGA-J4-A67L-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7657dad4-c2db-417a-a77c-4de308ef3f61 046e13f7-4c6e-4ee1-97c8-8adf4fa21c42 g.chr15:22709885delG ENST00000314246.8 - 0 1069 TATCTAATGTGGGGGGGGCTG 0.537 6 12 --- --- --- --- HERC2P9 0 broad.mit.edu 37 15 28900331 28900331 + RNA DEL A A - TCGA-J4-A67L-01A-11D-A30E-08 TCGA-J4-A67L-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7657dad4-c2db-417a-a77c-4de308ef3f61 046e13f7-4c6e-4ee1-97c8-8adf4fa21c42 g.chr15:28900331delA ENST00000528584.1 + 0 14 NR_036443.1 actctgtctcaaaaaaaaaaa 0.413 4 5 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102293062 102293064 + RNA DEL CTC CTC - rs4965539 TCGA-J4-A67L-01A-11D-A30E-08 TCGA-J4-A67L-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7657dad4-c2db-417a-a77c-4de308ef3f61 046e13f7-4c6e-4ee1-97c8-8adf4fa21c42 g.chr15:102293062_102293064delCTC ENST00000561463.1 + 0 1108_1110 AGTTCATCTTCTCAGAGCTGCTG 0.576 5 1 --- --- --- --- GMIP 51291 broad.mit.edu 37 19 19748340 19748340 + Frame_Shift_Del DEL C C - TCGA-J4-A67L-01A-11D-A30E-08 TCGA-J4-A67L-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7657dad4-c2db-417a-a77c-4de308ef3f61 046e13f7-4c6e-4ee1-97c8-8adf4fa21c42 g.chr19:19748340delC ENST00000203556.4 - 11 1095 c.958delG c.(958-960)cgfs p.A320fs GMIP_ENST00000445806.2_Frame_Shift_Del_p.A320fs|GMIP_ENST00000587238.1_Frame_Shift_Del_p.A320fs NM_016573.2 NP_057657.2 Q9P107 GMIP_HUMAN GEM interacting protein 320 negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 TCTGCCTGCGCCCCCCGCAGC 0.741 2 4 --- --- --- ---