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 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_ENST00000236255.4_Missense_Mutation_p.N467S|GRHL3_ENST00000356046.2_Missense_Mutation_p.N416S|GRHL3_ENST00000342072.4_Missense_Mutation_p.N369S|GRHL3_ENST00000350501.5_Missense_Mutation_p.N462S 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 0.662 4 203 --- --- --- --- 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 0.363 8 113 --- --- --- --- 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 0.637 7 95 --- --- --- --- 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 0.488 3 42 --- --- --- --- 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_ENST00000311785.7_Missense_Mutation_p.S332C|SEC31A_ENST00000326950.5_Missense_Mutation_p.S332C|SEC31A_ENST00000505984.1_Missense_Mutation_p.S332C|SEC31A_ENST00000509142.1_Missense_Mutation_p.S332C|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000443462.2_Missense_Mutation_p.S327C|SEC31A_ENST00000348405.4_Missense_Mutation_p.S332C|SEC31A_ENST00000395310.2_Missense_Mutation_p.S332C|SEC31A_ENST00000500777.2_Missense_Mutation_p.S332C|SEC31A_ENST00000508502.1_Missense_Mutation_p.S332C|SEC31A_ENST00000505472.1_Missense_Mutation_p.S332C|SEC31A_ENST00000448323.1_Missense_Mutation_p.S332C|SEC31A_ENST00000264405.5_Missense_Mutation_p.S104C|SEC31A_ENST00000508479.1_Missense_Mutation_p.S332C|SEC31A_ENST00000355196.2_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 0.413 3 81 --- --- --- --- 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_ENST00000455637.1_Silent_p.P2968P|KIAA1109_ENST00000388738.3_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 0.388 6 90 --- --- --- --- 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 0.453 5 56 --- --- --- --- 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 0.463 4 52 --- --- --- --- 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 0.433 7 200 --- --- --- --- 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 0.498 7 123 --- --- --- --- 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_ENST00000421249.2_Missense_Mutation_p.D571G|KIAA1429_ENST00000437199.1_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 0.403 6 140 --- --- --- --- 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_ENST00000361961.3_Missense_Mutation_p.K47Q|KIF21A_ENST00000544797.2_Missense_Mutation_p.K47Q|KIF21A_ENST00000541463.2_Missense_Mutation_p.K47Q|KIF21A_ENST00000361418.5_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 0.393 8 96 --- --- --- --- 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_ENST00000328454.5_Missense_Mutation_p.D392G|PCDH9_ENST00000377861.3_Missense_Mutation_p.D392G|PCDH9_ENST00000377865.2_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 0.383 5 138 --- --- --- --- 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 0.388 4 79 --- --- --- ---