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 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-HT-A4DV-01A-11D-A26M-08 TCGA-HT-A4DV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e51b8c-12e4-4a72-9412-8ecef2bd07b6 58d0d6e7-274b-47d4-bf28-aabce38ffaca g.chr1:145302714A>G ENST00000342960.5 + 8 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 384 p.L113L(3)|p.L384L(3) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAGAAGTTACGGGAAGGGA 0.527000 3 32 0 0 1 0 0 HDLBP 3069 broad.mit.edu 37 2 242176036 242176036 + Silent SNP A A C TCGA-HT-A4DV-01A-11D-A26M-08 TCGA-HT-A4DV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e51b8c-12e4-4a72-9412-8ecef2bd07b6 58d0d6e7-274b-47d4-bf28-aabce38ffaca g.chr2:242176036A>C ENST00000391975.1 - 21 3125 c.2898T>G c.(2896-2898)gcT>gcG p.A966A HDLBP_ENST00000310931.4_Silent_p.A966A|HDLBP_ENST00000391976.2_Silent_p.A966A|HDLBP_ENST00000427183.2_Silent_p.A933A NM_203346.3 NP_976221.1 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 966 KH 11. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) ATACCTCCAGAGCTTCCTTGG 0.612000 17 77 0 0 1 0 0 FICD 11153 broad.mit.edu 37 12 108912361 108912361 + Missense_Mutation SNP G G C TCGA-HT-A4DV-01A-11D-A26M-08 TCGA-HT-A4DV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e51b8c-12e4-4a72-9412-8ecef2bd07b6 58d0d6e7-274b-47d4-bf28-aabce38ffaca g.chr12:108912361G>C ENST00000552695.1 + 3 721 c.486G>C c.(484-486)ttG>ttC p.L162F FICD_ENST00000361549.2_3'UTR NM_007076.2 NP_009007.2 Q9BVA6 FICD_HUMAN FIC domain containing 162 negative regulation of Rho GTPase activity integral to membrane binding|protein adenylyltransferase activity NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2) 15 CGGACTACTTGTACACCAGAG 0.537000 5 46 0 0 1 0 0 FHOD1 29109 broad.mit.edu 37 16 67264254 67264254 + Missense_Mutation SNP C C T TCGA-HT-A4DV-01A-11D-A26M-08 TCGA-HT-A4DV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e51b8c-12e4-4a72-9412-8ecef2bd07b6 58d0d6e7-274b-47d4-bf28-aabce38ffaca g.chr16:67264254C>T ENST00000258201.4 - 19 3261 c.3014G>A c.(3013-3015)cGt>cAt p.R1005H FHOD1_ENST00000567687.1_Missense_Mutation_p.R584H NM_013241.2 NP_037373.2 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 1005 FH2. actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) GTTGCGCTCACGGTATGTGGC 0.592000 10 41 0 0 1 0 0 SARDH 1757 broad.mit.edu 37 9 136578200 136578200 + Silent SNP C C T TCGA-HT-A4DV-01A-11D-A26M-08 TCGA-HT-A4DV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e51b8c-12e4-4a72-9412-8ecef2bd07b6 58d0d6e7-274b-47d4-bf28-aabce38ffaca g.chr9:136578200C>T ENST00000371872.4 - 9 1454 c.1197G>A c.(1195-1197)gaG>gaA p.E399E SARDH_ENST00000422262.2_Silent_p.E231E|SARDH_ENST00000439388.1_Silent_p.E399E NM_007101.3 NP_009032.2 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase 399 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) ACCCTCGGAGCTCAGGTGCCT 0.612000 3 16 0 0 1 0 0 MYOZ3 91977 broad.mit.edu 37 5 150050053 150050053 + Silent SNP G G A TCGA-HT-A4DV-01A-11D-A26M-08 TCGA-HT-A4DV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e51b8c-12e4-4a72-9412-8ecef2bd07b6 58d0d6e7-274b-47d4-bf28-aabce38ffaca g.chr5:150050053G>A ENST00000297130.4 + 3 268 c.69G>A c.(67-69)acG>acA p.T23T MYOZ3_ENST00000517768.1_Silent_p.T23T NM_001122853.2|NM_133371.4 NP_001116325.1|NP_588612.2 Q8TDC0 MYOZ3_HUMAN myozenin 3 23 sarcomere protein binding large_intestine(2)|lung(1)|skin(2) 5 Medulloblastoma(196;0.134)|all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAGTCCCTACGCTGGACCTGG 0.602000 3 31 0 0 1 0 0 PLXNB3 5365 broad.mit.edu 37 X 153043475 153043475 + Silent SNP T T C TCGA-HT-A4DV-01A-11D-A26M-08 TCGA-HT-A4DV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e51b8c-12e4-4a72-9412-8ecef2bd07b6 58d0d6e7-274b-47d4-bf28-aabce38ffaca g.chrX:153043475T>C ENST00000538966.1 + 33 5674 c.5403T>C c.(5401-5403)aaT>aaC p.N1801N PLXNB3_ENST00000485980.1_3'UTR|PLXNB3_ENST00000361971.5_Silent_p.N1778N|PLXNB3_ENST00000538776.1_Silent_p.N1431N|SRPK3_ENST00000489426.1_5'UTR NM_001163257.1 NP_001156729.1 Q9ULL4 PLXB3_HUMAN plexin B3 1778 axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) TGTCGGACAATGTGGACGCCA 0.602000 3 36 0 0 1 0 0 PHKA2 5256 broad.mit.edu 37 X 18924631 18924631 + Missense_Mutation SNP G G A TCGA-HT-A4DV-01A-11D-A26M-08 TCGA-HT-A4DV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e51b8c-12e4-4a72-9412-8ecef2bd07b6 58d0d6e7-274b-47d4-bf28-aabce38ffaca g.chrX:18924631G>A ENST00000379942.4 - 25 3453 c.2788C>T c.(2788-2790)Cgg>Tgg p.R930W NM_000292.2 NP_000283.1 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 930 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Hepatocellular(33;0.183) TTCAGGCTCCGTGCCAGCTCC 0.632000 23 56 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42791872 42791872 + Missense_Mutation SNP C C T TCGA-HT-A4DV-01A-11D-A26M-08 TCGA-HT-A4DV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e51b8c-12e4-4a72-9412-8ecef2bd07b6 58d0d6e7-274b-47d4-bf28-aabce38ffaca g.chr19:42791872C>T ENST00000572681.2 + 6 3553 c.3485C>T c.(3484-3486)gCc>gTc p.A1162V CIC_ENST00000575354.2_Missense_Mutation_p.A253V|CIC_ENST00000160740.3_Missense_Mutation_p.A253V Q96RK0 CIC_HUMAN capicua transcriptional repressor 253 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CACGACCTGGCCTTCCAGGTA 0.622000 """Mis, F, S""" oligodendroglioma 6 32 0 0 1 0 0 SLC4A2 6522 broad.mit.edu 37 7 150761619 150761619 + Missense_Mutation SNP G G A TCGA-HT-A4DV-01A-11D-A26M-08 TCGA-HT-A4DV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e51b8c-12e4-4a72-9412-8ecef2bd07b6 58d0d6e7-274b-47d4-bf28-aabce38ffaca g.chr7:150761619G>A ENST00000485713.1 + 4 1264 c.224G>A c.(223-225)cGc>cAc p.R75H SLC4A2_ENST00000392826.2_Missense_Mutation_p.R66H|SLC4A2_ENST00000310317.5_Intron|SLC4A2_ENST00000461735.1_Missense_Mutation_p.R61H|SLC4A2_ENST00000413384.2_Missense_Mutation_p.R75H NM_001199692.1 NP_001186621.1 P04920 B3A2_HUMAN solute carrier family 4 (anion exchanger), member 2 75 Pro-rich. bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCAGACCACCGCCAGTCCTCC 0.682000 4 74 0 0 1 0 0 HTRA4 203100 broad.mit.edu 37 8 38839229 38839229 + Missense_Mutation SNP A A C TCGA-HT-A4DV-01A-11D-A26M-08 TCGA-HT-A4DV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e51b8c-12e4-4a72-9412-8ecef2bd07b6 58d0d6e7-274b-47d4-bf28-aabce38ffaca g.chr8:38839229A>C ENST00000302495.4 + 6 1157 c.1057A>C c.(1057-1059)Att>Ctt p.I353L NM_153692.3 NP_710159.1 P83105 HTRA4_HUMAN HtrA serine peptidase 4 353 Serine protease. proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1) 11 all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955) LUSC - Lung squamous cell carcinoma(45;1.5e-07) CTCCTTTGCAATTCCTTCAGA 0.428000 6 39 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-HT-A4DV-01A-11D-A26M-08 TCGA-HT-A4DV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e51b8c-12e4-4a72-9412-8ecef2bd07b6 58d0d6e7-274b-47d4-bf28-aabce38ffaca 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 5 23 0 0 1 0 0 SYTL5 94122 broad.mit.edu 37 X 37969646 37969646 + Missense_Mutation SNP C C T TCGA-HT-A4DV-01A-11D-A26M-08 TCGA-HT-A4DV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e51b8c-12e4-4a72-9412-8ecef2bd07b6 58d0d6e7-274b-47d4-bf28-aabce38ffaca g.chrX:37969646C>T ENST00000357972.5 + 13 2053 c.1507C>T c.(1507-1509)Cgt>Tgt p.R503C SYTL5_ENST00000456733.2_Missense_Mutation_p.R525C|TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.R503C Q8TDW5 SYTL5_HUMAN synaptotagmin-like 5 503 C2 1. intracellular protein transport membrane metal ion binding|Rab GTPase binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 44 TCGATTTGGACGTAATAGCTT 0.438000 4 73 0 0 1 0 0 ANKRD23 200539 broad.mit.edu 37 2 97506180 97506180 + Silent SNP T T A TCGA-HT-A4DV-01A-11D-A26M-08 TCGA-HT-A4DV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e51b8c-12e4-4a72-9412-8ecef2bd07b6 58d0d6e7-274b-47d4-bf28-aabce38ffaca g.chr2:97506180T>A ENST00000318357.4 - 5 539 c.498A>T c.(496-498)gcA>gcT p.A166A ANKRD23_ENST00000476975.1_5'UTR|ANKRD23_ENST00000418232.1_Silent_p.A166A|ANKRD23_ENST00000331001.2_Silent_p.A124A NM_144994.7 NP_659431.5 Q86SG2 ANR23_HUMAN ankyrin repeat domain 23 166 nucleus endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1) 9 CTGTGGCACCTGCCACCAGCA 0.622000 6 20 0 0 1 0 0 DENND2C 163259 broad.mit.edu 37 1 115151483 115151483 + Missense_Mutation SNP G G A TCGA-HT-A4DV-01A-11D-A26M-08 TCGA-HT-A4DV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e51b8c-12e4-4a72-9412-8ecef2bd07b6 58d0d6e7-274b-47d4-bf28-aabce38ffaca g.chr1:115151483G>A ENST00000393274.1 - 10 2006 c.1381C>T c.(1381-1383)Cgc>Tgc p.R461C DENND2C_ENST00000393276.3_Missense_Mutation_p.R404C|DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Missense_Mutation_p.R461C NM_001256404.1 NP_001243333.1 Q68D51 DEN2C_HUMAN DENN/MADD domain containing 2C 461 NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3) 37 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TGTGCTAAGCGTTTATGGCGA 0.438000 7 21 0 0 1 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125204403 125204403 + Nonsense_Mutation SNP G G A TCGA-HT-A4DV-01A-11D-A26M-08 TCGA-HT-A4DV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e51b8c-12e4-4a72-9412-8ecef2bd07b6 58d0d6e7-274b-47d4-bf28-aabce38ffaca g.chr2:125204403G>A ENST00000431078.1 + 6 1171 c.807G>A c.(805-807)tgG>tgA p.W269* NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 269 Laminin G-like 1. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) ACCAGCACTGGCACTCGGTCC 0.612000 3 38 0 0 1 0 0 RAD52 5893 broad.mit.edu 37 12 1023236 1023236 + Missense_Mutation SNP T T G TCGA-HT-A4DV-01A-11D-A26M-08 TCGA-HT-A4DV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e51b8c-12e4-4a72-9412-8ecef2bd07b6 58d0d6e7-274b-47d4-bf28-aabce38ffaca g.chr12:1023236T>G ENST00000358495.3 - 11 1157 c.1019A>C c.(1018-1020)gAt>gCt p.D340A RAD52_ENST00000430095.2_Missense_Mutation_p.D340A|RAD52_ENST00000535376.1_5'UTR|RAD52_ENST00000539046.1_Missense_Mutation_p.D263A NM_134424.2 NP_602296.2 P43351 RAD52_HUMAN RAD52 homolog (S. cerevisiae) 340 DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987) OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323) GACCACACCATCCCCTGCATC 0.507000 Homologous recombination 3 40 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-HT-A4DV-01A-11D-A26M-08 TCGA-HT-A4DV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e51b8c-12e4-4a72-9412-8ecef2bd07b6 58d0d6e7-274b-47d4-bf28-aabce38ffaca g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 4 61 0 0 1 0 0 APOBEC4 403314 broad.mit.edu 37 1 183617594 183617594 + Missense_Mutation SNP G G A TCGA-HT-A4DV-01A-11D-A26M-08 TCGA-HT-A4DV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e51b8c-12e4-4a72-9412-8ecef2bd07b6 58d0d6e7-274b-47d4-bf28-aabce38ffaca g.chr1:183617594G>A ENST00000308641.4 - 2 594 c.323C>T c.(322-324)gCc>gTc p.A108V RGL1_ENST00000367531.1_Intron|APOBEC4_ENST00000481562.1_Intron|RGL1_ENST00000304685.3_Intron|RGL1_ENST00000536277.1_Intron NM_203454.2 NP_982279.1 Q8WW27 ABEC4_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative) 108 mRNA processing hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1) 21 ATTGTATATGGCTGAGTCAAG 0.408000 7 50 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152730807 152730807 + Missense_Mutation SNP C C G TCGA-HT-A4DV-01A-11D-A26M-08 TCGA-HT-A4DV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e51b8c-12e4-4a72-9412-8ecef2bd07b6 58d0d6e7-274b-47d4-bf28-aabce38ffaca g.chr6:152730807C>G ENST00000367255.5 - 43 6869 c.6268G>C c.(6268-6270)Gaa>Caa p.E2090Q SYNE1_ENST00000423061.1_Missense_Mutation_p.E2097Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.E2097Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.E2127Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E2090Q NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2090 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTCTGATATTCTCTCATTAAG 0.368000 HNSCC(10;0.0054) 5 24 0 0 1 0 0 CCT6P3 0 broad.mit.edu 37 7 64498737 64498737 + RNA SNP C C A TCGA-HT-A4DV-01A-11D-A26M-08 TCGA-HT-A4DV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e51b8c-12e4-4a72-9412-8ecef2bd07b6 58d0d6e7-274b-47d4-bf28-aabce38ffaca g.chr7:64498737C>A ENST00000426828.1 + 0 0 NR_033416.1 gaggcggtggcggcggcggca 0.786000 3 4 6.4e-05 6.4e-05 1 1 0 PMS2CL 0 broad.mit.edu 37 7 6776906 6776906 + RNA SNP A A G rs7804416 by1000genomes TCGA-HT-A4DV-01A-11D-A26M-08 TCGA-HT-A4DV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e51b8c-12e4-4a72-9412-8ecef2bd07b6 58d0d6e7-274b-47d4-bf28-aabce38ffaca g.chr7:6776906A>G ENST00000486256.1 + 0 1033 NR_002217.1 GCCCTCTAGGACAGAAAAGGG 0.517000 3 34 0 0 1 0 0 RP11-1166P10.6 0 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-HT-A4DV-01A-11D-A26M-08 TCGA-HT-A4DV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e51b8c-12e4-4a72-9412-8ecef2bd07b6 58d0d6e7-274b-47d4-bf28-aabce38ffaca g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 4 56 0 0 1 0 0 C7orf34 135927 broad.mit.edu 37 7 142636704 142636704 + Missense_Mutation SNP T T C rs11977017 by1000genomes TCGA-HT-A4DV-01A-11D-A26M-08 TCGA-HT-A4DV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e51b8c-12e4-4a72-9412-8ecef2bd07b6 58d0d6e7-274b-47d4-bf28-aabce38ffaca g.chr7:142636704T>C ENST00000409607.3 + 1 102 c.61T>C c.(61-63)Tgg>Cgg p.W21R NM_178829.4 NP_849151.2 Q96L11 CG034_HUMAN chromosome 7 open reading frame 34 0 extracellular region large_intestine(1)|lung(4) 5 Melanoma(164;0.059) CCAAAGGCAGTGGGTGGGCAG 0.642000 3 38 0 0 1 0 0 HSPA4L 22824 broad.mit.edu 37 4 128753891 128753891 + Missense_Mutation SNP A A C TCGA-HT-A4DV-01A-11D-A26M-08 TCGA-HT-A4DV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e51b8c-12e4-4a72-9412-8ecef2bd07b6 58d0d6e7-274b-47d4-bf28-aabce38ffaca g.chr4:128753891A>C ENST00000296464.3 + 19 2793 c.2382A>C c.(2380-2382)gaA>gaC p.E794D HSPA4L_ENST00000505726.1_Missense_Mutation_p.E768D|HSPA4L_ENST00000508776.1_Missense_Mutation_p.E794D|HSPA4L_ENST00000439123.2_Missense_Mutation_p.E825D NM_014278.2 NP_055093.2 O95757 HS74L_HUMAN heat shock 70kDa protein 4-like 794 protein folding|response to unfolded protein cytoplasm|nucleus ATP binding|protein binding central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 31 CAAAAGCAGAAGTTCCTGAAG 0.368000 7 30 0 0 1 0 0 U2AF2 11338 broad.mit.edu 37 19 56180480 56180480 + Missense_Mutation SNP G G T TCGA-HT-A4DV-01A-11D-A26M-08 TCGA-HT-A4DV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e51b8c-12e4-4a72-9412-8ecef2bd07b6 58d0d6e7-274b-47d4-bf28-aabce38ffaca g.chr19:56180480G>T ENST00000450554.2 + 10 1936 c.977G>T c.(976-978)gGg>gTg p.G326V U2AF2_ENST00000308924.4_Missense_Mutation_p.G326V|U2AF2_ENST00000590551.1_Missense_Mutation_p.G162V|CTD-2537I9.12_ENST00000589456.1_RNA|CTD-2537I9.12_ENST00000585940.1_RNA NM_001012478.1|NM_007279.2 NP_001012496.1|NP_009210.1 P26368 U2AF2_HUMAN U2 small nuclear RNA auxiliary factor 2 326 RRM 2. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription nucleoplasm|spliceosomal complex enzyme binding|nucleotide binding|RNA binding biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2) 21 Colorectal(82;0.00244)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) ATGCAGCTGGGGGATAAGAAG 0.657000 4 32 1.23904e-05 1.27659e-05 1 1 0 MALAT1 0 broad.mit.edu 37 11 65269165 65269166 + RNA INS - - G TCGA-HT-A4DV-01A-11D-A26M-08 TCGA-HT-A4DV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e51b8c-12e4-4a72-9412-8ecef2bd07b6 58d0d6e7-274b-47d4-bf28-aabce38ffaca g.chr11:65269165_65269166insG ENST00000534336.1 + 0 3933_3934 NR_002819.2 TCCTTGGAAGAGTATTCCCAGT 0.455 9 33 --- --- --- ---