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 PRMT8 56341 broad.mit.edu 37 12 3649787 3649787 + Missense_Mutation SNP T T C TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr12:3649787T>C ENST00000382622.3 + 2 481 c.91T>C c.(91-93)Tcc>Ccc p.S31P PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P NM_019854.4 NP_062828.3 Q9NR22 ANM8_HUMAN protein arginine methyltransferase 8 31 regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) CAGCCCCCCCTCCCAGCCCCC 0.652000 10 71 0 0 1 0 0 OTOL1 131149 broad.mit.edu 37 3 161217017 161217017 + Silent SNP C C A TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr3:161217017C>A ENST00000327928.4 + 2 423 c.423C>A c.(421-423)ccC>ccA p.P141P NM_001080440.1 NP_001073909.1 A6NHN0 OTOL1_HUMAN otolin 1 141 Collagen-like 1. collagen central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1) 27 TTGTTGGGCCCCAAGGCCCTA 0.433000 3 25 0.004672 0.00495804 1 1 0 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 5 87 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1264220 1264220 + Missense_Mutation SNP C C T TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr11:1264220C>T ENST00000447027.1 + 31 6177 c.6119C>T c.(6118-6120)gCc>gTc p.A2040V MUC5B_ENST00000529681.1_Missense_Mutation_p.A2037V|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2037 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GGCTCTGTGGCCACCCCCTCC 0.647000 5 118 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296282 39296282 + Missense_Mutation SNP G G T TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr17:39296282G>T ENST00000345847.4 - 1 457 c.458C>A c.(457-459)tCt>tAt p.S153Y NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 149 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 ttcacagcaagaggggcggca 0.662000 4 62 0.150653 0.150653 1 1 0 LAMA4 3910 broad.mit.edu 37 6 112466059 112466059 + Missense_Mutation SNP G G T TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr6:112466059G>T ENST00000230538.7 - 19 2827 c.2430C>A c.(2428-2430)aaC>aaA p.N810K LAMA4_ENST00000389463.4_Missense_Mutation_p.N803K|LAMA4_ENST00000522006.1_Missense_Mutation_p.N803K|LAMA4_ENST00000424408.2_Missense_Mutation_p.N803K NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 810 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) TGGCAGAAACGTTGCTTGCAG 0.478000 26 46 4.26978e-12 4.62559e-12 1 1 0 LRFN4 78999 broad.mit.edu 37 11 66627470 66627470 + Missense_Mutation SNP A A C TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr11:66627470A>C ENST00000309602.4 + 2 1955 c.1712A>C c.(1711-1713)cAc>cCc p.H571P PC_ENST00000393960.1_Intron|PC_ENST00000393958.2_Intron|LRFN4_ENST00000393952.3_Intron|PC_ENST00000393955.2_Intron NM_024036.4 NP_076941.2 Q6PJG9 LRFN4_HUMAN leucine rich repeat and fibronectin type III domain containing 4 571 integral to membrane breast(1)|lung(1)|prostate(1) 3 CCCAAGGCCCAcccgccgcgg 0.731000 6 10 0 0 1 0 0 B3GNT1 11041 broad.mit.edu 37 11 66114749 66114749 + Missense_Mutation SNP T T C TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr11:66114749T>C ENST00000311181.4 - 1 414 c.268A>G c.(268-270)Atg>Gtg p.M90V NM_006876.2 NP_006867.1 O43505 B3GN1_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1 90 poly-N-acetyllactosamine biosynthetic process integral to Golgi membrane N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1) 12 TTGGGGTCCATGGTGGTCTTC 0.682000 2 1 0 0 1 0 0 PRKCSH 5589 broad.mit.edu 37 19 11557156 11557156 + Silent SNP G G A TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr19:11557156G>A ENST00000252455.2 + 9 1089 c.753G>A c.(751-753)gcG>gcA p.A251A PRKCSH_ENST00000591462.1_Silent_p.A251A|PRKCSH_ENST00000589838.1_Silent_p.A251A|PRKCSH_ENST00000412601.1_Silent_p.A251A|PRKCSH_ENST00000592741.1_Silent_p.A251A|PRKCSH_ENST00000587327.1_Silent_p.A251A NM_002743.2 NP_002734.2 P14314 GLU2B_HUMAN protein kinase C substrate 80K-H 251 EF-hand 2. innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen calcium ion binding|protein kinase C binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3) 19 TGTCAGAAGCGGAAGCTCAGG 0.647000 3 19 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 4 76 0 0 1 0 0 UNC5D 137970 broad.mit.edu 37 8 35425751 35425751 + Missense_Mutation SNP G G A TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr8:35425751G>A ENST00000287272.2 + 3 478 c.458G>A c.(457-459)cGc>cAc p.R153H UNC5D_ENST00000453357.2_Missense_Mutation_p.R148H|UNC5D_ENST00000420357.1_Missense_Mutation_p.R153H|UNC5D_ENST00000416672.1_Missense_Mutation_p.R153H|UNC5D_ENST00000404895.2_Missense_Mutation_p.R153H Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 153 Ig-like C2-type. apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) GCCTCTGTGCGCATAGCCTGT 0.517000 4 102 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3141702 3141702 + Missense_Mutation SNP A A T TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr8:3141702A>T ENST00000602557.1 - 27 4675 c.4120T>A c.(4120-4122)Ttc>Atc p.F1374I CSMD1_ENST00000400186.3_Missense_Mutation_p.F1374I|CSMD1_ENST00000542608.1_Missense_Mutation_p.F1373I|CSMD1_ENST00000539096.1_Missense_Mutation_p.F1373I|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Missense_Mutation_p.F1373I|CSMD1_ENST00000602723.1_Missense_Mutation_p.F1374I|CSMD1_ENST00000520002.1_Missense_Mutation_p.F1374I Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1374 CUB 8. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TTGCTGATGAAGAAGTCGCTG 0.522000 3 4 0 0 1 0 0 ATXN7L1 222255 broad.mit.edu 37 7 105516315 105516315 + Missense_Mutation SNP C C T TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr7:105516315C>T ENST00000419735.3 - 2 238 c.193G>A c.(193-195)Gaa>Aaa p.E65K ATXN7L1_ENST00000478915.1_Intron|ATXN7L1_ENST00000318724.4_Missense_Mutation_p.E65K NM_020725.1 NP_065776.1 Q9ULK2 AT7L1_HUMAN ataxin 7-like 1 65 endometrium(1)|large_intestine(4)|lung(5) 10 CCAGCCTCTTCTAAATCTACA 0.413000 98 145 0 0 1 0 0 ADAR 103 broad.mit.edu 37 1 154600394 154600394 + Silent SNP T T C TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr1:154600394T>C ENST00000292205.5 - 1 80 c.81A>G c.(79-81)ggA>ggG p.G27G ADAR_ENST00000471068.1_Intron|ADAR_ENST00000368471.3_5'UTR NM_001025107.2|NM_001193495.1 NP_001020278.1|NP_001180424.1 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific 0 adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2) 51 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) GCCGCGACCCTCCCCCCACCC 0.652000 6 30 0 0 1 0 0 DTX3L 151636 broad.mit.edu 37 3 122288340 122288340 + Silent SNP C C A rs148416505 TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr3:122288340C>A ENST00000296161.4 + 3 1593 c.1404C>A c.(1402-1404)acC>acA p.T468T DTX3L_ENST00000383661.3_Intron NM_138287.3 NP_612144.1 Q8TDB6 DTX3L_HUMAN deltex 3-like (Drosophila) 468 histone monoubiquitination|response to DNA damage stimulus cytoplasm|nucleus histone binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(114;0.0459) TACATCAGACCAAGTTTGCTG 0.398000 4 135 0.150653 0.150653 1 1 0 ENTPD7 57089 broad.mit.edu 37 10 101464274 101464274 + Missense_Mutation SNP A A G TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr10:101464274A>G ENST00000370489.4 + 13 1827 c.1649A>G c.(1648-1650)aAc>aGc p.N550S CUTC_ENST00000493385.1_Intron NM_020354.3 NP_065087.1 Q9NQZ7 ENTP7_HUMAN ectonucleoside triphosphate diphosphohydrolase 7 550 cytoplasmic vesicle membrane|integral to membrane hydrolase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1) 18 Colorectal(252;0.234) Epithelial(162;4.72e-10)|all cancers(201;3.75e-08) TTTGTATACAACCACTATCTC 0.493000 8 91 0 0 1 0 0 TONSL 4796 broad.mit.edu 37 8 145664079 145664079 + Missense_Mutation SNP T T A TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr8:145664079T>A ENST00000409379.3 - 12 1549 c.1520A>T c.(1519-1521)gAc>gTc p.D507V AC084125.4_ENST00000442850.1_RNA NM_013432.4 NP_038460.4 Q96HA7 TONSL_HUMAN tonsoku-like, DNA repair protein 507 Glu-rich. cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing cytoplasm|nuclear replication fork histone binding|transcription corepressor activity biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1) 26 AAGCTCCTCGTCCTCCTCCAG 0.692000 6 17 0 0 1 0 0 SLC41A1 254428 broad.mit.edu 37 1 205764534 205764534 + Missense_Mutation SNP C C T TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr1:205764534C>T ENST00000367137.3 - 9 2159 c.1145G>A c.(1144-1146)gGa>gAa p.G382E SLC41A1_ENST00000468057.1_5'UTR NM_173854.4 NP_776253.3 Q8IVJ1 S41A1_HUMAN solute carrier family 41 (magnesium transporter), member 1 382 integral to membrane|plasma membrane magnesium ion transmembrane transporter activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 17 Breast(84;0.0799) BRCA - Breast invasive adenocarcinoma(75;0.0252) AGAGTTCTCTCCGGGCATTCC 0.607000 15 24 0 0 1 0 0 PCDH19 57526 broad.mit.edu 37 X 99657627 99657627 + Missense_Mutation SNP G G C TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chrX:99657627G>C ENST00000373034.4 - 3 4186 c.2511C>G c.(2509-2511)aaC>aaG p.N837K PCDH19_ENST00000255531.7_Missense_Mutation_p.N790K|PCDH19_ENST00000420881.2_Missense_Mutation_p.N790K NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 837 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 GGGTATTCTGGTTCTCCACAT 0.567000 22 3 0 0 1 0 0 TARS 6897 broad.mit.edu 37 5 33456283 33456283 + Missense_Mutation SNP G G C TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr5:33456283G>C ENST00000265112.3 + 8 1099 c.788G>C c.(787-789)gGt>gCt p.G263A TARS_ENST00000502553.1_Missense_Mutation_p.G263A|TARS_ENST00000541634.1_Missense_Mutation_p.G159A|TARS_ENST00000414361.2_Missense_Mutation_p.G142A|TARS_ENST00000455217.2_Missense_Mutation_p.G296A NM_152295.4 NP_689508.3 P26639 SYTC_HUMAN threonyl-tRNA synthetase 263 threonyl-tRNA aminoacylation cytosol ATP binding|protein homodimerization activity|threonine-tRNA ligase activity NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1) 29 L-Threonine(DB00156) CTCTGCCGGGGTCCTCATGTT 0.328000 11 16 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-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) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 68 83 0 0 1 0 0 DFNA5 1687 broad.mit.edu 37 7 24745946 24745946 + Missense_Mutation SNP T T C TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr7:24745946T>C ENST00000545231.1 - 10 1698 c.548A>G c.(547-549)gAg>gGg p.E183G DFNA5_ENST00000419307.1_Missense_Mutation_p.E183G|DFNA5_ENST00000342947.3_Missense_Mutation_p.E347G|DFNA5_ENST00000409775.3_Missense_Mutation_p.E347G|DFNA5_ENST00000409970.1_Missense_Mutation_p.E183G O60443 DFNA5_HUMAN deafness, autosomal dominant 5 347 sensory perception of sound endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1) 19 GGGCTTCAGCTCCCCCAGCAC 0.662000 6 22 0 0 1 0 0 GTF2H1 2965 broad.mit.edu 37 11 18354672 18354672 + Silent SNP A A G TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr11:18354672A>G ENST00000265963.4 + 2 211 c.51A>G c.(49-51)caA>caG p.Q17Q GTF2H1_ENST00000453096.2_Silent_p.Q17Q|GTF2H1_ENST00000534641.1_5'UTR|GTF2H1_ENST00000531757.1_3'UTR NM_005316.3 NP_005307.1 P32780 TF2H1_HUMAN general transcription factor IIH, polypeptide 1, 62kDa 17 mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex protein binding endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 AAGTGCGTCAAAAGAAGCAGG 0.393000 Nucleotide excision repair (NER) 12 103 0 0 1 0 0 GSTO2 119391 broad.mit.edu 37 10 106058999 106058999 + Missense_Mutation SNP A A G TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr10:106058999A>G ENST00000450629.2 + 6 1215 c.587A>G c.(586-588)tAt>tGt p.Y196C GSTO2_ENST00000429569.2_3'UTR|GSTO2_ENST00000369707.1_Missense_Mutation_p.Y202C|GSTO2_ENST00000338595.2_Missense_Mutation_p.Y230C NM_001191013.1 NP_001177942.1 Q9H4Y5 GSTO2_HUMAN glutathione S-transferase omega 2 230 GST C-terminal. water-soluble vitamin metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 11 Colorectal(252;0.178) Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155) Glutathione(DB00143) TTGAATCTCTATTTTCAGAAC 0.517000 28 79 0 0 1 0 0 CASP14 23581 broad.mit.edu 37 19 15166255 15166255 + Nonsense_Mutation SNP C C T TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr19:15166255C>T ENST00000427043.3 + 6 843 c.535C>T c.(535-537)Cga>Tga p.R179* CASP14_ENST00000221740.1_Nonsense_Mutation_p.R179* NM_012114.2 NP_036246.1 P31944 CASPE_HUMAN caspase 14, apoptosis-related cysteine peptidase 179 apoptosis|cell differentiation|epidermis development|proteolysis cytoplasm|nucleus cysteine-type endopeptidase activity p.R179*(1) NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3) 26 CATCGCCTACCGACATGATCA 0.537000 29 53 0 0 1 0 0 ANGEL2 90806 broad.mit.edu 37 1 213178773 213178773 + Missense_Mutation SNP G G A TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr1:213178773G>A ENST00000366962.3 - 5 890 c.736C>T c.(736-738)Cgg>Tgg p.R246W ANGEL2_ENST00000535388.1_Missense_Mutation_p.R77W|ANGEL2_ENST00000540642.1_Missense_Mutation_p.R120W|ANGEL2_ENST00000544555.1_Missense_Mutation_p.R77W|ANGEL2_ENST00000360506.2_Missense_Mutation_p.R77W NM_144567.3 NP_653168.2 Q5VTE6 ANGE2_HUMAN angel homolog 2 (Drosophila) 246 central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185) CTTCCTGTCCGCATCTTATAT 0.368000 5 101 0 0 1 0 0 OR8H2 390151 broad.mit.edu 37 11 55872565 55872565 + Missense_Mutation SNP T T A TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr11:55872565T>A ENST00000313503.1 + 1 47 c.47T>A c.(46-48)aTg>aAg p.M16K NM_001005200.1 NP_001005200.1 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, member 2 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) TTCATCCTTATGGGACTGACA 0.433000 HNSCC(53;0.14) 34 235 0 0 1 0 0 TEKT4 150483 broad.mit.edu 37 2 95537590 95537590 + Missense_Mutation SNP G G A TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr2:95537590G>A ENST00000295201.4 + 1 403 c.266G>A c.(265-267)cGc>cAc p.R89H TEKT4_ENST00000427593.2_Missense_Mutation_p.R89H|AC097374.2_ENST00000568768.1_RNA NM_144705.2 NP_653306.1 Q8WW24 TEKT4_HUMAN tektin 4 89 cell projection organization|microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 28 GACTCCACGCGCACAGTGGGC 0.692000 3 20 0 0 1 0 0 TGM6 343641 broad.mit.edu 37 20 2375994 2375994 + Silent SNP C C T TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr20:2375994C>T ENST00000202625.2 + 3 397 c.336C>T c.(334-336)taC>taT p.Y112Y TGM6_ENST00000477505.1_Intron|TGM6_ENST00000381423.1_Silent_p.Y112Y NM_198994.2 NP_945345.2 O95932 TGM3L_HUMAN transglutaminase 6 112 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) TTGGCCGCTACCTGCTGAGCA 0.597000 36 50 0 0 1 0 0 HLA-A 3105 broad.mit.edu 37 6 29910693 29910693 + Missense_Mutation SNP A A G rs41559716 by1000genomes TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr6:29910693A>G ENST00000396634.1 + 4 574 c.233A>G c.(232-234)cAg>cGg p.Q78R HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R P30443 1A01_HUMAN major histocompatibility complex, class I, A 78 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.Q78R(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TGGATAGAGCAGGAGGGGCCG 0.657000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 3 34 0 0 1 0 0 CSNK2A1 1457 broad.mit.edu 37 20 472948 472948 + Nonsense_Mutation SNP G G A TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr20:472948G>A ENST00000217244.3 - 9 946 c.571C>T c.(571-573)Cga>Tga p.R191* CSNK2A1_ENST00000400217.1_Nonsense_Mutation_p.R55*|CSNK2A1_ENST00000400227.3_Nonsense_Mutation_p.R191*|CSNK2A1_ENST00000460062.1_5'UTR|CSNK2A1_ENST00000349736.5_Nonsense_Mutation_p.R191* NM_177559.2 NP_808227.1 P68400 CSK21_HUMAN casein kinase 2, alpha 1 polypeptide 191 Protein kinase. axon guidance|Wnt receptor signaling pathway cytosol|NuRD complex|plasma membrane|Sin3 complex ATP binding|protein N-terminus binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1) 17 Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.0969) GAAGCAACTCGGACATTATAT 0.413000 16 30 0 0 1 0 0 ZNF589 51385 broad.mit.edu 37 3 48309874 48309874 + Missense_Mutation SNP C C G TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr3:48309874C>G ENST00000354698.3 + 4 765 c.693C>G c.(691-693)ttC>ttG p.F231L ZNF589_ENST00000440261.2_Intron|ZNF589_ENST00000412564.1_Intron|ZNF589_ENST00000427617.2_Intron NM_016089.2 NP_057173.2 Q86UQ0 ZN589_HUMAN zinc finger protein 589 231 regulation of transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|skin(1) 4 BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CAAACCTGTTCAGACAGAAGG 0.498000 4 115 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 3 24 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57112308 57112308 + Silent SNP A A G TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr12:57112308A>G ENST00000454682.1 - 3 3287 c.3006T>C c.(3004-3006)acT>acC p.T1002T NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 TGGGGGATGGAGTAGCTGGAC 0.652000 T BCL6 NHL 10 90 0 0 1 0 0 PCDHA10 0 broad.mit.edu 37 5 140237249 140237249 + Missense_Mutation SNP G G C TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr5:140237249G>C ENST00000307360.5 + 1 1616 c.1616G>C c.(1615-1617)gGg>gCg p.G539A PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 p.G539A(2) NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCGCGATGGGGGCGTGCCG 0.687000 4 80 0 0 1 0 0 ZC3H12A 80149 broad.mit.edu 37 1 37946000 37946000 + Missense_Mutation SNP G G A TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr1:37946000G>A ENST00000373087.6 + 3 669 c.553G>A c.(553-555)Gag>Aag p.E185K NM_025079.2 NP_079355.2 Q5D1E8 ZC12A_HUMAN zinc finger CCCH-type containing 12A 185 angiogenesis|apoptosis|cell differentiation cytoplasm|nucleus|plasma membrane endonuclease activity|metal ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CTGGAGGAAGGAGCAGCCTCG 0.622000 18 28 0 0 1 0 0 HLX 3142 broad.mit.edu 37 1 221055517 221055517 + Missense_Mutation SNP G G A TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr1:221055517G>A ENST00000366903.6 + 3 2285 c.784G>A c.(784-786)Gtg>Atg p.V262M HLX_ENST00000549319.1_Missense_Mutation_p.V48M NM_021958.3 NP_068777.1 Q14774 HLX_HUMAN H2.0-like homeobox 262 cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(131;0.00914) TCCCTATGCTGTGCTCACGAA 0.587000 3 26 0 0 1 0 0 IGKV1-9 0 broad.mit.edu 37 2 89309919 89309919 + RNA SNP G G A TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr2:89309919G>A ENST00000493819.1 - 0 93 AGAGCAGCAGGAGCCCCAGGA 0.552000 64 95 0 0 1 0 0 NR3C2 0 broad.mit.edu 37 4 149075976 149075976 + Silent SNP T T G TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr4:149075976T>G ENST00000355292.3 - 5 2465 c.2103A>C c.(2101-2103)ccA>ccC p.P701P RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000358102.3_Silent_p.P697P|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000344721.4_Silent_p.P697P|NR3C2_ENST00000342437.4_Intron|NR3C2_ENST00000511528.1_Silent_p.P701P|NR3C2_ENST00000503313.1_5'UTR P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 697 Hinge. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) ggggtgggggtgggggtgggg 0.527000 4 5 0 0 1 0 0 KCNN3 3782 broad.mit.edu 37 1 154842242 154842244 + In_Frame_Del DEL GAA GAA - TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr1:154842242_154842244delGAA ENST00000271915.3 - 1 512_514 c.197_199delTTC c.(196-201)cag>c p.LQ66del NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 66 Poly-Gln. integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) tgctgctgctgaagctgcggagg 0.700 3 6 --- --- --- --- TCF7L1 83439 broad.mit.edu 37 2 85361493 85361494 + Frame_Shift_Del DEL GG GG - TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr2:85361493_85361494delGG ENST00000282111.3 + 3 636_637 c.361_362delGG c.(361-363)gfs p.G121fs TCF7L1_ENST00000494519.1_3'UTR NM_031283.2 NP_112573.1 Q9HCS4 TF7L1_HUMAN transcription factor 7-like 1 (T-cell specific, HMG-box) 121 Pro-rich. chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1) 18 CCCGTACCCTGGGTACCCCTTC 0.673 2 4 --- --- --- --- PGRMC2 10424 broad.mit.edu 37 4 129208971 129208974 + Frame_Shift_Del DEL CCTC CCTC - TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr4:129208971_129208974delCCTC ENST00000520121.1 - 1 1010_1013 c.44_47delGAGG c.(43-48)gafs p.GG17fs PGRMC2_ENST00000512483.1_Intron NM_006320.4 NP_006311.2 progesterone receptor membrane component 2 CCTTCCTCCTCCTCCCCGCCCCCT 0.721 2 4 --- --- --- --- MAML3 55534 broad.mit.edu 37 4 140811064 140811069 + In_Frame_Del DEL TGCTGC TGCTGC - rs71855026 TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr4:140811064_140811069delTGCTGC ENST00000509479.2 - 2 2377_2382 c.1521_1526delGCAGCA c.(1519-1527)caa>ca p.QQQ507del MAML3_ENST00000398940.1_Splice_Site_p.37_splice|MAML3_ENST00000327122.5_In_Frame_Del_p.QQQ351del NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 506 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) TGAGtgctgttgctgctgctgctgct 0.515 15 91 --- --- --- --- AC004540.5 0 broad.mit.edu 37 7 26518706 26518706 + RNA DEL C C - rs35749684 TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr7:26518706delC ENST00000418758.2 + 0 468 acctggccttccccctcttct 0.602 2 4 --- --- --- --- XKR5 389610 broad.mit.edu 37 8 6673270 6673270 + RNA DEL A A - TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr8:6673270delA ENST00000518724.1 - 0 1071 Q6UX68 XKR5_HUMAN XK, Kell blood group complex subunit-related family, member 5 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 STAD - Stomach adenocarcinoma(24;0.0984) READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166) AGCCCATTGTAAAAAAAAAAA 0.502 OREG0018511 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- AGAP11 119385 broad.mit.edu 37 10 88767684 88767687 + RNA DEL TCTT TCTT - rs71019446 TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr10:88767684_88767687delTCTT ENST00000444431.1 + 0 2711 RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding AGAAAATGTATCtttttttttttt 0.417 2 4 --- --- --- --- SLC22A24 283238 broad.mit.edu 37 11 62850732 62850732 + Frame_Shift_Del DEL T T - TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr11:62850732delT ENST00000417740.1 - 7 1709 c.1268delA c.(1267-1269)acfs p.N423fs NM_001136506.2 NP_001129978.2 solute carrier family 22, member 24 kidney(1)|stomach(1) 2 CAAAAAGGTGTTGACCAGAAT 0.458 2 4 --- --- --- --- EP400 57634 broad.mit.edu 37 12 132547093 132547094 + In_Frame_Ins INS - - CAG rs113304321 by1000genomes TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr12:132547093_132547094insCAG ENST00000333577.4 + 48 8398_8399 c.8289_8290insCAG c.(8287-8292)caagca>caCAGagca p.2763_2763Q>HR EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagca 0.564 20 48 --- --- --- --- FSCB 84075 broad.mit.edu 37 14 44974154 44974155 + In_Frame_Ins INS - - GGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAG rs71108655 byFrequency TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr14:44974154_44974155insGGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAG ENST00000340446.4 - 1 2327_2328 c.2036_2037insCTCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCC c.(2035-2037)cgc>cCTCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCCgc p.678_679insPLKFSLHQLRRP NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 678 Ala-rich. cilium breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) GAACTTCAGCAGGGGCCTCCTC 0.604 10 18 --- --- --- --- NPIPA5 100288332 broad.mit.edu 37 16 15457598 15457609 + In_Frame_Del DEL GCTGAGGGTGGA GCTGAGGGTGGA - TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr16:15457598_15457609delGCTGAGGGTGGA ENST00000360151.4 - 8 959_970 c.960_971delTCCACCCTCAGC c.(958-972)gcg>gc p.APPSA320del NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 ATTATCATCCGCTGAGGGTGGAGCTGAGGGTG 0.509 5 11 --- --- --- --- DNMT1 1786 broad.mit.edu 37 19 10262139 10262139 + Frame_Shift_Del DEL T T - TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr19:10262139delT ENST00000340748.4 - 23 2387 c.2152delA c.(2152-2154)tgfs p.M718fs DNMT1_ENST00000359526.4_Frame_Shift_Del_p.M734fs|DNMT1_ENST00000540357.1_Frame_Shift_Del_p.M718fs P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 718 chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) CCCTGGTGCATTTTTTTGGGT 0.507 7 200 --- --- --- --- RBBP8NL 140893 broad.mit.edu 37 20 60989556 60989556 + Frame_Shift_Del DEL G G - TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr20:60989556delG ENST00000252998.1 - 10 1007 c.851delC c.(850-852)cgfs p.P284fs NM_080833.2 NP_543023.2 RBBP8 N-terminal like GTCCACCTTCGGGGAGAGCTT 0.701 2 4 --- --- --- --- AIFM3 150209 broad.mit.edu 37 22 21327670 21327670 + Frame_Shift_Del DEL A A - TCGA-DJ-A3VG-01A-11D-A23M-08 TCGA-DJ-A3VG-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58e32653-08d3-451a-9b21-cbb16a26d56b 45361d23-f9aa-4620-822d-3a31653f32de g.chr22:21327670delA ENST00000399167.2 + 3 346 c.106delA c.(106-108)gcfs p.S36fs AIFM3_ENST00000399163.2_Frame_Shift_Del_p.S36fs|AIFM3_ENST00000335375.5_Frame_Shift_Del_p.A61fs|AIFM3_ENST00000333607.6_Frame_Shift_Del_p.S36fs|AIFM3_ENST00000405089.1_Frame_Shift_Del_p.S42fs|AIFM3_ENST00000440238.2_Frame_Shift_Del_p.S36fs NM_144704.2 NP_653305.1 apoptosis-inducing factor, mitochondrion-associated, 3 breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 21 all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0367) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) TGGGAAGGGCAGCCCCCGGGC 0.677 5 9 --- --- --- ---