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 PCDH9 5101 broad.mit.edu 37 13 67801398 67801398 + Missense_Mutation SNP T T C TCGA-EJ-A6RA-01A-11D-A33T-08 TCGA-EJ-A6RA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 456a9fb1-804b-413e-ab74-dd30d4e6954e 40ec64e3-ca43-4bac-8a1a-62f299e29f7c g.chr13:67801398T>C ENST00000544246.1 - 2 1866 c.1175A>G c.(1174-1176)gAc>gGc p.D392G PCDH9_ENST00000456367.1_Missense_Mutation_p.D392G|PCDH9_ENST00000377861.3_Missense_Mutation_p.D392G|PCDH9_ENST00000377865.2_Missense_Mutation_p.D392G|PCDH9_ENST00000328454.5_Missense_Mutation_p.D392G NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 392 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) CACATCTGTGTCCTTATCTGA 0.383000 5 138 0 0 1 0 0 SEC31A 22872 broad.mit.edu 37 4 83788357 83788357 + Missense_Mutation SNP G G C TCGA-EJ-A6RA-01A-11D-A33T-08 TCGA-EJ-A6RA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 456a9fb1-804b-413e-ab74-dd30d4e6954e 40ec64e3-ca43-4bac-8a1a-62f299e29f7c g.chr4:83788357G>C ENST00000432794.1 - 9 1158 c.995C>G c.(994-996)tCt>tGt p.S332C SEC31A_ENST00000509142.1_Missense_Mutation_p.S332C|SEC31A_ENST00000508502.1_Missense_Mutation_p.S332C|SEC31A_ENST00000505984.1_Missense_Mutation_p.S332C|SEC31A_ENST00000500777.2_Missense_Mutation_p.S332C|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000448323.1_Missense_Mutation_p.S332C|SEC31A_ENST00000443462.2_Missense_Mutation_p.S327C|SEC31A_ENST00000395310.2_Missense_Mutation_p.S332C|SEC31A_ENST00000355196.2_Missense_Mutation_p.S332C|SEC31A_ENST00000348405.4_Missense_Mutation_p.S332C|SEC31A_ENST00000326950.5_Missense_Mutation_p.S332C|SEC31A_ENST00000311785.7_Missense_Mutation_p.S332C|SEC31A_ENST00000508479.1_Missense_Mutation_p.S332C|SEC31A_ENST00000264405.5_Missense_Mutation_p.S104C|SEC31A_ENST00000505472.1_Missense_Mutation_p.S332C|SEC31A_ENST00000513858.1_Missense_Mutation_p.S332C O94979 SC31A_HUMAN SEC31 homolog A (S. cerevisiae) 332 Interaction with SEC13. COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/ALK(3)|SEC31A/JAK2(4) breast(1) 1 Hepatocellular(203;0.114) TCCCATGATAGAATAAACACT 0.413000 3 81 0 0 1 0 0 MAN2A1 4124 broad.mit.edu 37 5 109200789 109200789 + Missense_Mutation SNP T T G TCGA-EJ-A6RA-01A-11D-A33T-08 TCGA-EJ-A6RA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 456a9fb1-804b-413e-ab74-dd30d4e6954e 40ec64e3-ca43-4bac-8a1a-62f299e29f7c g.chr5:109200789T>G ENST00000261483.4 + 21 4276 c.3224T>G c.(3223-3225)tTt>tGt p.F1075C MAN2A1_ENST00000505313.1_3'UTR NM_002372.2 NP_002363.2 Q16706 MA2A1_HUMAN mannosidase, alpha, class 2A, member 1 1075 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) AGAAAAGGGTTTGATTGTCGG 0.453000 5 56 0 0 1 0 0 FMO4 2329 broad.mit.edu 37 1 171301877 171301877 + Missense_Mutation SNP G G C TCGA-EJ-A6RA-01A-11D-A33T-08 TCGA-EJ-A6RA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 456a9fb1-804b-413e-ab74-dd30d4e6954e 40ec64e3-ca43-4bac-8a1a-62f299e29f7c g.chr1:171301877G>C ENST00000367749.3 + 7 987 c.657G>C c.(655-657)tgG>tgC p.W219C FMO4_ENST00000462992.1_3'UTR NM_002022.1 NP_002013.1 P31512 FMO4_HUMAN flavin containing monooxygenase 4 219 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) CTGGTACCTGGGTTCTTGGGC 0.363000 8 113 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123202796 123202796 + Silent SNP A A G TCGA-EJ-A6RA-01A-11D-A33T-08 TCGA-EJ-A6RA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 456a9fb1-804b-413e-ab74-dd30d4e6954e 40ec64e3-ca43-4bac-8a1a-62f299e29f7c g.chr4:123202796A>G ENST00000264501.4 + 52 9277 c.8904A>G c.(8902-8904)ccA>ccG p.P2968P KIAA1109_ENST00000388738.3_Silent_p.P2968P|KIAA1109_ENST00000455637.1_Silent_p.P2968P Q2LD37 K1109_HUMAN KIAA1109 2968 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 CTCAGCTACCAGAAGGCTTAG 0.388000 6 90 0 0 1 0 0 TFCP2L1 29842 broad.mit.edu 37 2 122038720 122038720 + Missense_Mutation SNP C C G TCGA-EJ-A6RA-01A-11D-A33T-08 TCGA-EJ-A6RA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 456a9fb1-804b-413e-ab74-dd30d4e6954e 40ec64e3-ca43-4bac-8a1a-62f299e29f7c g.chr2:122038720C>G ENST00000263707.5 - 2 287 c.190G>C c.(190-192)Gag>Cag p.E64Q NM_014553.2 NP_055368.1 Q9NZI6 TF2L1_HUMAN transcription factor CP2-like 1 64 female pregnancy|steroid biosynthetic process mitochondrion|nucleolus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1) 22 Renal(3;0.01) GTCAGCGTCTCTTCATGCAGC 0.637000 7 95 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-EJ-A6RA-01A-11D-A33T-08 TCGA-EJ-A6RA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 456a9fb1-804b-413e-ab74-dd30d4e6954e 40ec64e3-ca43-4bac-8a1a-62f299e29f7c g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) 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) ggaaggggaaaaaaagaaggg 0.413000 3 89 0 0 1 0 0 LYN 4067 broad.mit.edu 37 8 56860229 56860229 + Silent SNP C C A TCGA-EJ-A6RA-01A-11D-A33T-08 TCGA-EJ-A6RA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 456a9fb1-804b-413e-ab74-dd30d4e6954e 40ec64e3-ca43-4bac-8a1a-62f299e29f7c g.chr8:56860229C>A ENST00000520220.2 + 4 442 c.168C>A c.(166-168)atC>atA p.I56I LYN_ENST00000519728.1_Silent_p.I77I NM_001111097.2 NP_001104567.1 P07948 LYN_HUMAN v-yes-1 Yamaguchi sarcoma viral related oncogene homolog 77 erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 22 all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772) Epithelial(17;0.000834)|all cancers(17;0.00598) ATGATGGCATCCACCCGGACG 0.498000 7 123 0.00198382 0.00210781 1 1 0 KIF21A 55605 broad.mit.edu 37 12 39763969 39763969 + Missense_Mutation SNP T T G TCGA-EJ-A6RA-01A-11D-A33T-08 TCGA-EJ-A6RA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 456a9fb1-804b-413e-ab74-dd30d4e6954e 40ec64e3-ca43-4bac-8a1a-62f299e29f7c g.chr12:39763969T>G ENST00000395670.3 - 2 558 c.139A>C c.(139-141)Aag>Cag p.K47Q KIF21A_ENST00000541463.2_Missense_Mutation_p.K47Q|KIF21A_ENST00000361418.5_Missense_Mutation_p.K47Q|KIF21A_ENST00000544797.2_Missense_Mutation_p.K47Q|KIF21A_ENST00000361961.3_Missense_Mutation_p.K47Q Q7Z4S6 KI21A_HUMAN kinesin family member 21A 47 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) GTAAAAGCCTTATCTTTCCCT 0.393000 8 96 0 0 1 0 0 KIAA1429 25962 broad.mit.edu 37 8 95538760 95538760 + Missense_Mutation SNP T T C TCGA-EJ-A6RA-01A-11D-A33T-08 TCGA-EJ-A6RA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 456a9fb1-804b-413e-ab74-dd30d4e6954e 40ec64e3-ca43-4bac-8a1a-62f299e29f7c g.chr8:95538760T>C ENST00000297591.5 - 8 1787 c.1712A>G c.(1711-1713)gAc>gGc p.D571G KIAA1429_ENST00000437199.1_Missense_Mutation_p.D571G|KIAA1429_ENST00000421249.2_Missense_Mutation_p.D571G NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 571 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) TGCTAAATGGTCACCAAGTCT 0.403000 6 140 0 0 1 0 0 ALDH2 217 broad.mit.edu 37 12 112221026 112221026 + Missense_Mutation SNP G G A TCGA-EJ-A6RA-01A-11D-A33T-08 TCGA-EJ-A6RA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 456a9fb1-804b-413e-ab74-dd30d4e6954e 40ec64e3-ca43-4bac-8a1a-62f299e29f7c g.chr12:112221026G>A ENST00000261733.2 + 3 345 c.284G>A c.(283-285)cGc>cAc p.R95H ALDH2_ENST00000416293.3_Intron|RP11-162P23.2_ENST00000546840.2_Missense_Mutation_p.A92T NM_000690.3 NP_000681.2 P05091 ALDH2_HUMAN aldehyde dehydrogenase 2 family (mitochondrial) 95 carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process mitochondrial matrix aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1) 22 Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727) CCTTGGCGCCGCATGGACGCA 0.637000 T HMGA2 leiomyoma 4 169 0 0 1 0 0 LGSN 51557 broad.mit.edu 37 6 63990991 63990991 + Silent SNP G G A rs141217825 byFrequency TCGA-EJ-A6RA-01A-11D-A33T-08 TCGA-EJ-A6RA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 456a9fb1-804b-413e-ab74-dd30d4e6954e 40ec64e3-ca43-4bac-8a1a-62f299e29f7c g.chr6:63990991G>A ENST00000370658.5 - 4 498 c.465C>T c.(463-465)acC>acT p.T155T LGSN_ENST00000370657.4_Silent_p.T155T NM_001143940.1|NM_016571.2 NP_001137412.1|NP_057655.2 Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase domain 155 glutamine biosynthetic process glutamate-ammonia ligase activity NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) AAACTCTAAAGGTTGATAACT 0.403000 6 93 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141625171 141625171 + Missense_Mutation SNP G G A TCGA-EJ-A6RA-01A-11D-A33T-08 TCGA-EJ-A6RA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 456a9fb1-804b-413e-ab74-dd30d4e6954e 40ec64e3-ca43-4bac-8a1a-62f299e29f7c g.chr2:141625171G>A ENST00000389484.3 - 27 5538 c.4567C>T c.(4567-4569)Cgc>Tgc p.R1523C NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1523 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TGTGGCTGGCGACTGGGATGG 0.388000 TSP Lung(27;0.18) 10 112 0 0 1 0 0 MUT 4594 broad.mit.edu 37 6 49412360 49412360 + Silent SNP A A C TCGA-EJ-A6RA-01A-11D-A33T-08 TCGA-EJ-A6RA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 456a9fb1-804b-413e-ab74-dd30d4e6954e 40ec64e3-ca43-4bac-8a1a-62f299e29f7c g.chr6:49412360A>C ENST00000274813.3 - 9 1795 c.1668T>G c.(1666-1668)tcT>tcG p.S556S NM_000255.3 NP_000246.2 P22033 MUTA_HUMAN methylmalonyl CoA mutase 556 fatty acid beta-oxidation mitochondrial matrix cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 30 Lung NSC(77;0.0376) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ACCTTGCCCGAGATGCATCCA 0.433000 7 200 0 0 1 0 0 MAN2A1 4124 broad.mit.edu 37 5 109200801 109200801 + Missense_Mutation SNP T T C TCGA-EJ-A6RA-01A-11D-A33T-08 TCGA-EJ-A6RA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 456a9fb1-804b-413e-ab74-dd30d4e6954e 40ec64e3-ca43-4bac-8a1a-62f299e29f7c g.chr5:109200801T>C ENST00000261483.4 + 21 4288 c.3236T>C c.(3235-3237)tTc>tCc p.F1079S MAN2A1_ENST00000505313.1_3'UTR NM_002372.2 NP_002363.2 Q16706 MA2A1_HUMAN mannosidase, alpha, class 2A, member 1 1079 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) GATTGTCGGTTCTCTAGCAAA 0.463000 4 52 0 0 1 0 0 AGAP8 728404 broad.mit.edu 37 10 51225502 51225502 + Nonsense_Mutation SNP G G A TCGA-EJ-A6RA-01A-11D-A33T-08 TCGA-EJ-A6RA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 456a9fb1-804b-413e-ab74-dd30d4e6954e 40ec64e3-ca43-4bac-8a1a-62f299e29f7c g.chr10:51225502G>A ENST00000602930.1 - 9 1981 c.1432C>T c.(1432-1434)Cga>Tga p.R478* AGAP8_ENST00000425119.2_Nonsense_Mutation_p.R494* NM_001276343.1 NP_001263272.1 Q5SRD3 AGAP8_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 8 494 Arf-GAP. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding breast(1)|endometrium(1)|lung(2)|ovary(2) 6 TCCAGAGATCGCACACGGGAA 0.537000 5 220 0 0 1 0 0 CEACAM4 1089 broad.mit.edu 37 19 42132119 42132119 + Missense_Mutation SNP C C T TCGA-EJ-A6RA-01A-11D-A33T-08 TCGA-EJ-A6RA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 456a9fb1-804b-413e-ab74-dd30d4e6954e 40ec64e3-ca43-4bac-8a1a-62f299e29f7c g.chr19:42132119C>T ENST00000221954.2 - 2 390 c.280G>A c.(280-282)Gca>Aca p.A94T CEACAM4_ENST00000600925.1_Missense_Mutation_p.A94T NM_001817.2 NP_001808.2 O75871 CEAM4_HUMAN carcinoembryonic antigen-related cell adhesion molecule 4 94 Ig-like V-type. integral to plasma membrane|membrane fraction p.A94T(1) NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1) 16 CCACTGTATGCGGCCCCTGGG 0.488000 4 171 0 0 1 0 0 WDR33 55339 broad.mit.edu 37 2 128476956 128476956 + Silent SNP G G A TCGA-EJ-A6RA-01A-11D-A33T-08 TCGA-EJ-A6RA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 456a9fb1-804b-413e-ab74-dd30d4e6954e 40ec64e3-ca43-4bac-8a1a-62f299e29f7c g.chr2:128476956G>A ENST00000322313.4 - 16 2801 c.2643C>T c.(2641-2643)ccC>ccT p.P881P NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 881 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) CCTGAGGTCCGGGGGGTCCTT 0.627000 4 92 0 0 1 0 0 INO80 54617 broad.mit.edu 37 15 41377751 41377751 + Missense_Mutation SNP C C T TCGA-EJ-A6RA-01A-11D-A33T-08 TCGA-EJ-A6RA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 456a9fb1-804b-413e-ab74-dd30d4e6954e 40ec64e3-ca43-4bac-8a1a-62f299e29f7c g.chr15:41377751C>T ENST00000361937.3 - 7 1113 c.689G>A c.(688-690)cGa>cAa p.R230Q INO80_ENST00000401393.3_Missense_Mutation_p.R230Q Q9ULG1 INO80_HUMAN INO80 complex subunit 230 Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 TTCATCTCTTCGTCTTTTTTT 0.448000 3 58 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-EJ-A6RA-01A-11D-A33T-08 TCGA-EJ-A6RA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 456a9fb1-804b-413e-ab74-dd30d4e6954e 40ec64e3-ca43-4bac-8a1a-62f299e29f7c g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 49 0 0 1 0 0 GRHL3 57822 broad.mit.edu 37 1 24669481 24669481 + Missense_Mutation SNP A A G rs143169996 byFrequency TCGA-EJ-A6RA-01A-11D-A33T-08 TCGA-EJ-A6RA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 456a9fb1-804b-413e-ab74-dd30d4e6954e 40ec64e3-ca43-4bac-8a1a-62f299e29f7c g.chr1:24669481A>G ENST00000361548.4 + 11 1615 c.1385A>G c.(1384-1386)aAt>aGt p.N462S GRHL3_ENST00000356046.2_Missense_Mutation_p.N416S|GRHL3_ENST00000350501.5_Missense_Mutation_p.N462S|GRHL3_ENST00000342072.4_Missense_Mutation_p.N369S|GRHL3_ENST00000236255.4_Missense_Mutation_p.N467S NM_198173.2 NP_937816.1 Q8TE85 GRHL3_HUMAN grainyhead-like 3 (Drosophila) 462 regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143) TTCATCCCCAATGTGCACTTC 0.662000 4 203 0 0 1 0 0 ZNF768 79724 broad.mit.edu 37 16 30536940 30536940 + Missense_Mutation SNP G G A TCGA-EJ-A6RA-01A-11D-A33T-08 TCGA-EJ-A6RA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 456a9fb1-804b-413e-ab74-dd30d4e6954e 40ec64e3-ca43-4bac-8a1a-62f299e29f7c g.chr16:30536940G>A ENST00000380412.5 - 2 696 c.521C>T c.(520-522)gCg>gTg p.A174V ZNF768_ENST00000562803.1_Missense_Mutation_p.A143V NM_024671.3 NP_078947.3 Q9H5H4 ZN768_HUMAN zinc finger protein 768 174 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 15 AAGCATCTCCGCACCTTCCTG 0.498000 4 208 0 0 1 0 0 WDR76 79968 broad.mit.edu 37 15 44150892 44150892 + Missense_Mutation SNP G G A TCGA-EJ-A6RA-01A-11D-A33T-08 TCGA-EJ-A6RA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 456a9fb1-804b-413e-ab74-dd30d4e6954e 40ec64e3-ca43-4bac-8a1a-62f299e29f7c g.chr15:44150892G>A ENST00000263795.6 + 11 1503 c.1433G>A c.(1432-1434)aGg>aAg p.R478K WDR76_ENST00000478130.1_3'UTR|WDR76_ENST00000381246.2_Missense_Mutation_p.R414K NM_001167941.1|NM_024908.3 NP_001161413.1|NP_079184.2 Q9H967 WDR76_HUMAN WD repeat domain 76 478 breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2) 20 all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417) all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07) TATGATGCAAGGCGATTGAAT 0.388000 4 79 0 0 1 0 0 CALR 811 broad.mit.edu 37 19 13051093 13051093 + Missense_Mutation SNP C C T TCGA-EJ-A6RA-01A-11D-A33T-08 TCGA-EJ-A6RA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 456a9fb1-804b-413e-ab74-dd30d4e6954e 40ec64e3-ca43-4bac-8a1a-62f299e29f7c g.chr19:13051093C>T ENST00000316448.5 + 5 602 c.529C>T c.(529-531)Cgg>Tgg p.R177W NM_004343.3 NP_004334.1 P27797 CALR_HUMAN calreticulin 177 N-domain. cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding kidney(1)|large_intestine(3)|lung(5)|ovary(1) 10 Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) ACTGATTGTGCGGCCAGACAA 0.532000 4 99 0 0 1 0 0 BAZ1B 9031 broad.mit.edu 37 7 72891702 72891702 + Missense_Mutation SNP G G A TCGA-EJ-A6RA-01A-11D-A33T-08 TCGA-EJ-A6RA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 456a9fb1-804b-413e-ab74-dd30d4e6954e 40ec64e3-ca43-4bac-8a1a-62f299e29f7c g.chr7:72891702G>A ENST00000339594.4 - 7 2427 c.2089C>T c.(2089-2091)Cgc>Tgc p.R697C BAZ1B_ENST00000404251.1_Missense_Mutation_p.R697C NM_032408.3 NP_115784.1 Q9UIG0 BAZ1B_HUMAN bromodomain adjacent to zinc finger domain, 1B 697 ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Lung NSC(55;0.0659)|all_lung(88;0.152) TCAGATCTGCGCAAGCAGAGC 0.463000 9 71 0 0 1 0 0 SNTN 132203 broad.mit.edu 37 3 63638399 63638399 + Silent SNP T T C TCGA-EJ-A6RA-01A-11D-A33T-08 TCGA-EJ-A6RA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 456a9fb1-804b-413e-ab74-dd30d4e6954e 40ec64e3-ca43-4bac-8a1a-62f299e29f7c g.chr3:63638399T>C ENST00000496807.1 + 1 26 c.24T>C c.(22-24)tcT>tcC p.S8S SNTN_ENST00000343837.3_Silent_p.S12S A6NMZ2 SNTAN_HUMAN sentan, cilia apical structure protein 12 cilium calcium ion binding endometrium(2)|ovary(1) 3 AGGACAAATCTCTCCACTTGG 0.488000 3 42 0 0 1 0 0 ZNF70 7621 broad.mit.edu 37 22 24086056 24086056 + Silent SNP G G A TCGA-EJ-A6RA-01A-11D-A33T-08 TCGA-EJ-A6RA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 456a9fb1-804b-413e-ab74-dd30d4e6954e 40ec64e3-ca43-4bac-8a1a-62f299e29f7c g.chr22:24086056G>A ENST00000341976.3 - 2 1732 c.1272C>T c.(1270-1272)tgC>tgT p.C424C NM_021916.2 NP_068735.1 Q9UC06 ZNF70_HUMAN zinc finger protein 70 424 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1) 21 AGGACTTGCCGCACAGATTGC 0.547000 4 148 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195412724 195412725 + RNA DEL TT TT - TCGA-EJ-A6RA-01A-11D-A33T-08 TCGA-EJ-A6RA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 456a9fb1-804b-413e-ab74-dd30d4e6954e 40ec64e3-ca43-4bac-8a1a-62f299e29f7c g.chr3:195412724_195412725delTT ENST00000445430.1 + 0 3921_3922 TTGACAAAACTTTGAACGAGGC 0.401 7 33 --- --- --- --- GUSBP1 0 broad.mit.edu 37 5 21491295 21491302 + RNA DEL AAAAAAAA AAAAAAAA - TCGA-EJ-A6RA-01A-11D-A33T-08 TCGA-EJ-A6RA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 456a9fb1-804b-413e-ab74-dd30d4e6954e 40ec64e3-ca43-4bac-8a1a-62f299e29f7c g.chr5:21491295_21491302delAAAAAAAA ENST00000607545.1 + 0 179 NR_027026.1 attctatctcaaaaaaaaaaaaaaaaaa 0.471 3 3 --- --- --- --- SKIDA1 387640 broad.mit.edu 37 10 21805466 21805467 + In_Frame_Ins INS - - CCTCCT rs138084841 by1000genomes TCGA-EJ-A6RA-01A-11D-A33T-08 TCGA-EJ-A6RA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 456a9fb1-804b-413e-ab74-dd30d4e6954e 40ec64e3-ca43-4bac-8a1a-62f299e29f7c 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 3 --- --- --- --- DTX1 1840 broad.mit.edu 37 12 113531851 113531851 + Frame_Shift_Del DEL C C - TCGA-EJ-A6RA-01A-11D-A33T-08 TCGA-EJ-A6RA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 456a9fb1-804b-413e-ab74-dd30d4e6954e 40ec64e3-ca43-4bac-8a1a-62f299e29f7c g.chr12:113531851delC ENST00000257600.3 + 5 1677 c.1174delC c.(1174-1176)ccfs p.P392fs DTX1_ENST00000547974.1_3'UTR NM_004416.2 NP_004407.2 Q86Y01 DTX1_HUMAN deltex homolog 1 (Drosophila) 392 negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding p.P392A(1) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 AGGTAAGAATCCCGAGGATGT 0.622 2 4 --- --- --- --- UBE2Q2P1 0 broad.mit.edu 37 15 85077360 85077360 + RNA DEL A A - TCGA-EJ-A6RA-01A-11D-A33T-08 TCGA-EJ-A6RA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 456a9fb1-804b-413e-ab74-dd30d4e6954e 40ec64e3-ca43-4bac-8a1a-62f299e29f7c g.chr15:85077360delA ENST00000339094.1 - 0 1678 NR_003661.2 tttttaaactaaaaaaaaaaa 0.373 4 5 --- --- --- --- RRN3P1 0 broad.mit.edu 37 16 21817398 21817399 + RNA INS - - A rs144931984 by1000genomes TCGA-EJ-A6RA-01A-11D-A33T-08 TCGA-EJ-A6RA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 456a9fb1-804b-413e-ab74-dd30d4e6954e 40ec64e3-ca43-4bac-8a1a-62f299e29f7c g.chr16:21817398_21817399insA ENST00000546471.1 - 0 1607 TAAATGaaaataaaaaaataaa 0.302 6 10 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45219612 45219612 + Frame_Shift_Del DEL A A - TCGA-EJ-A6RA-01A-11D-A33T-08 TCGA-EJ-A6RA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 456a9fb1-804b-413e-ab74-dd30d4e6954e 40ec64e3-ca43-4bac-8a1a-62f299e29f7c g.chr17:45219612delA ENST00000066544.3 - 11 1454 c.1361delT c.(1360-1362)cafs p.L454fs CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 454 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TGCTTTTTGTAGATTAAAGGC 0.308 7 60 --- --- --- ---