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 LTBP1 4052 broad.mit.edu 37 2 33567941 33567941 + Missense_Mutation SNP G G A TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr2:33567941G>A ENST00000404816.2 + 25 4120 c.3767G>A c.(3766-3768)aGt>aAt p.S1256N LTBP1_ENST00000354476.3_Missense_Mutation_p.S1257N|LTBP1_ENST00000390003.4_Missense_Mutation_p.S931N|LTBP1_ENST00000404525.1_Missense_Mutation_p.S877N|LTBP1_ENST00000402934.1_Missense_Mutation_p.S877N|LTBP1_ENST00000418533.2_Intron|LTBP1_ENST00000272273.5_Intron|LTBP1_ENST00000407925.1_Missense_Mutation_p.S930N Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 1256 EGF-like 13; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) GTTTGTGACAGTCACGGGTTT 0.443000 7 50 0 0 1 0 0 ZBTB34 403341 broad.mit.edu 37 9 129642399 129642399 + Missense_Mutation SNP A A C TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr9:129642399A>C ENST00000319119.4 + 2 806 c.721A>C c.(721-723)Aag>Cag p.K241Q ZBTB34_ENST00000373452.2_Missense_Mutation_p.K237Q NM_001099270.1 NP_001092740.1 Q8NCN2 ZBT34_HUMAN zinc finger and BTB domain containing 34 237 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 12 GGTGAAAGTGAAGATGGAGAA 0.547000 6 67 0 0 1 0 0 GDI2 2665 broad.mit.edu 37 10 5827219 5827219 + Missense_Mutation SNP C C T TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr10:5827219C>T ENST00000380191.4 - 6 895 c.605G>A c.(604-606)tGt>tAt p.C202Y GDI2_ENST00000380181.3_Missense_Mutation_p.C157Y|GDI2_ENST00000380132.4_Missense_Mutation_p.C206Y NM_001115156.1|NM_001494.3 NP_001108628.1|NP_001485.2 P50395 GDIB_HUMAN GDP dissociation inhibitor 2 202 protein transport|small GTPase mediated signal transduction cell surface|cytosol|membrane protein binding|Rab GDP-dissociation inhibitor activity NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1) 10 GGTTTCATAACACGGTTGATC 0.348000 6 87 0 0 1 0 0 NPY2R 4887 broad.mit.edu 37 4 156135481 156135481 + Missense_Mutation SNP G G T TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr4:156135481G>T ENST00000329476.3 + 2 879 c.390G>T c.(388-390)caG>caT p.Q130H NPY2R_ENST00000506608.1_Missense_Mutation_p.Q130H NM_000910.2 NP_000901.1 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 130 cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1) 36 all_hematologic(180;0.24) Renal(120;0.0854) CCTATGCCCAGGGCCTGGCAG 0.522000 8 56 0.0381472 0.0430023 1 1 0 CCDC148 130940 broad.mit.edu 37 2 159170404 159170404 + Missense_Mutation SNP T T C TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr2:159170404T>C ENST00000283233.5 - 8 1080 c.767A>G c.(766-768)aAc>aGc p.N256S CCDC148_ENST00000409187.1_Missense_Mutation_p.N265S|CCDC148_ENST00000536771.1_Missense_Mutation_p.N170S NM_138803.3 NP_620158.3 Q8NFR7 CC148_HUMAN coiled-coil domain containing 148 256 endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 TAGTTGACAGTTTCTAGAAGC 0.388000 4 55 0 0 1 0 0 TTF1 7270 broad.mit.edu 37 9 135277018 135277018 + Silent SNP G G A TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr9:135277018G>A ENST00000334270.2 - 2 1230 c.1191C>T c.(1189-1191)gtC>gtT p.V397V NM_001205296.1|NM_007344.3 NP_001192225.1|NP_031370.2 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase I 397 negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) GTGCCCTTTTGACAGACGTAA 0.463000 8 100 0 0 1 0 0 ANKRD39 51239 broad.mit.edu 37 2 97514153 97514153 + Missense_Mutation SNP C C T TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr2:97514153C>T ENST00000393537.4 - 4 544 c.437G>A c.(436-438)tGc>tAc p.C146Y NM_016466.5 NP_057550.3 Q53RE8 ANR39_HUMAN ankyrin repeat domain 39 146 NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1) 6 GAGGAGGGAGCAGATGTCCCC 0.607000 8 49 0 0 1 0 0 CYP2D6 1565 broad.mit.edu 37 22 42525788 42525788 + Missense_Mutation SNP G G A TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr22:42525788G>A ENST00000360608.5 - 2 418 c.304C>T c.(304-306)Ccg>Tcg p.P102S CYP2D6_ENST00000389970.3_Missense_Mutation_p.P102S|CYP2D6_ENST00000359033.4_Missense_Mutation_p.P102S|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000416037.1_RNA NM_000106.5 NP_000097.3 Q6NWU0 Q6NWU0_HUMAN cytochrome P450, family 2, subfamily D, polypeptide 6 102 electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GGCACAGGCGGGCGGTCGGCG 0.697000 3 29 0 0 1 0 0 ETAA1 54465 broad.mit.edu 37 2 67626364 67626364 + Missense_Mutation SNP C C G TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr2:67626364C>G ENST00000272342.5 + 2 417 c.287C>G c.(286-288)cCt>cGt p.P96R NM_019002.3 NP_061875.2 Q9NY74 ETAA1_HUMAN Ewing tumor-associated antigen 1 96 cytoplasm|nucleus autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 33 TTCAGTTCTCCTAATGATCCA 0.318000 5 40 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2984095 2984095 + Silent SNP C C T TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr7:2984095C>T ENST00000396946.4 - 5 838 c.435G>A c.(433-435)aaG>aaA p.K145K AC004906.3_ENST00000423194.1_RNA NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 145 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) GTTGCAGGTCCTTGGCCTTCA 0.617000 Mis DLBCL 7 72 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240371373 240371373 + Silent SNP A A T TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr1:240371373A>T ENST00000319653.9 + 5 3491 c.3261A>T c.(3259-3261)ccA>ccT p.P1087P NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1087 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GCATACCCCCACCTCCCCCTC 0.726000 3 9 0 0 1 0 0 EPSTI1 94240 broad.mit.edu 37 13 43500540 43500540 + Missense_Mutation SNP G G T TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr13:43500540G>T ENST00000313640.7 - 7 653 c.589C>A c.(589-591)Ctg>Atg p.L197M EPSTI1_ENST00000313624.7_Missense_Mutation_p.L197M|EPSTI1_ENST00000476830.2_5'UTR|EPSTI1_ENST00000398762.3_Missense_Mutation_p.L197M NM_001002264.2 NP_001002264.1 Q96J88 ESIP1_HUMAN epithelial stromal interaction 1 (breast) 197 endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1) 17 Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858) TCTGTGTTCAGTTTGCTCAAG 0.428000 8 132 1.12685e-05 1.42581e-05 1 1 0 GABRA2 2555 broad.mit.edu 37 4 46307679 46307679 + Silent SNP A A G TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr4:46307679A>G ENST00000510861.1 - 7 782 c.609T>C c.(607-609)tcT>tcC p.S203S GABRA2_ENST00000356504.1_Silent_p.S203S|GABRA2_ENST00000507069.1_Silent_p.S203S|GABRA2_ENST00000540012.1_Silent_p.S148S|GABRA2_ENST00000381620.4_Silent_p.S203S|GABRA2_ENST00000514090.1_Silent_p.S203S|GABRA2_ENST00000515082.1_Silent_p.S203S P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 203 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GTACTGAATCAGATGCATTGT 0.358000 4 49 0 0 1 0 0 NIPBL 25836 broad.mit.edu 37 5 36985988 36985988 + Silent SNP A A G TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr5:36985988A>G ENST00000282516.8 + 10 3205 c.2706A>G c.(2704-2706)aaA>aaG p.K902K NIPBL_ENST00000448238.2_Silent_p.K902K|NIPBL_ENST00000504430.1_3'UTR NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 902 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) ATTCTAATAAATCAAGATCTG 0.393000 5 52 0 0 1 0 0 PMFBP1 83449 broad.mit.edu 37 16 72159281 72159281 + Silent SNP T T G TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr16:72159281T>G ENST00000537465.1 - 16 2450 c.2292A>C c.(2290-2292)acA>acC p.T764T PMFBP1_ENST00000355636.6_Silent_p.T614T|PMFBP1_ENST00000237353.10_Silent_p.T759T Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 764 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) GCAGGCTCTTTGTCTCTGAGG 0.483000 OREG0023927 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 181 0 0 1 0 0 ZSCAN21 7589 broad.mit.edu 37 7 99662274 99662274 + Nonstop_Mutation SNP A A C TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr7:99662274A>C ENST00000543588.1 + 6 1597 c.1353A>C c.(1351-1353)taA>taC p.*451Y ZSCAN21_ENST00000292450.4_3'UTR|ZSCAN21_ENST00000456748.2_Nonstop_Mutation_p.*451Y|ZNF3_ENST00000413658.2_3'UTR Q9Y5A6 ZSC21_HUMAN zinc finger and SCAN domain containing 21 0 positive regulation of transcription, DNA-dependent|viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1) 21 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) CGTTGTTTTAAACTTTAGAAT 0.453000 3 43 0 0 1 0 0 ZNF366 167465 broad.mit.edu 37 5 71739939 71739939 + Missense_Mutation SNP C C T TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr5:71739939C>T ENST00000318442.5 - 5 2369 c.1879G>A c.(1879-1881)Gag>Aag p.E627K NM_152625.1 NP_689838.1 Q8N895 ZN366_HUMAN zinc finger protein 366 627 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) GGCTCCACCTCGTAGCAGTTA 0.667000 7 120 0 0 1 0 0 CWF19L2 143884 broad.mit.edu 37 11 107207333 107207333 + Missense_Mutation SNP C C A TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr11:107207333C>A ENST00000282251.5 - 15 2336 c.2309G>T c.(2308-2310)tGt>tTt p.C770F NM_152434.2 NP_689647.2 Q2TBE0 C19L2_HUMAN CWF19-like 2, cell cycle control (S. pombe) 770 catalytic activity endometrium(4)|kidney(2)|large_intestine(13)|lung(21) 40 Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258) Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05) AAGAGGAATACATTCATAAAC 0.328000 4 23 0.00024832 0.000296074 1 1 0 LGR5 8549 broad.mit.edu 37 12 71833921 71833921 + Missense_Mutation SNP G G T TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr12:71833921G>T ENST00000266674.5 + 1 372 c.61G>T c.(61-63)Ggg>Tgg p.G21W TSPAN8_ENST00000393330.2_Intron|LGR5_ENST00000536515.1_Missense_Mutation_p.G21W|LGR5_ENST00000540815.2_Missense_Mutation_p.G21W O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 21 integral to plasma membrane protein-hormone receptor activity NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 GCTGGCGACCGGGGGCAGCTC 0.682000 3 43 0.115264 0.119106 1 1 0 CNTNAP4 85445 broad.mit.edu 37 16 76556036 76556036 + Silent SNP G G A TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr16:76556036G>A ENST00000307431.8 + 18 3019 c.2634G>A c.(2632-2634)gtG>gtA p.V878V CNTNAP4_ENST00000478060.1_Silent_p.V806V|CNTNAP4_ENST00000476707.1_Silent_p.V882V|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Silent_p.V830V NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 879 Laminin G-like 3. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 GGCACCATGTGAGGGTTGAAA 0.527000 11 102 0 0 1 0 0 PCDHA3 56145 broad.mit.edu 37 5 140182956 140182956 + Missense_Mutation SNP C C A TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr5:140182956C>A ENST00000522353.2 + 1 2174 c.2174C>A c.(2173-2175)gCg>gAg p.A725E PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.A725E|PCDHA2_ENST00000520672.2_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGTGCTCCGCGCCGCCAACC 0.637000 7 104 0.0381472 0.0430023 1 1 0 AHNAK 79026 broad.mit.edu 37 11 62287901 62287901 + Missense_Mutation SNP G G A TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr11:62287901G>A ENST00000378024.4 - 5 14262 c.13988C>T c.(13987-13989)cCt>cTt p.P4663L AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 4663 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TTTGAAGCCAGGCATGCTGAA 0.512000 9 322 0 0 1 0 0 TSSC2 650368 broad.mit.edu 37 11 3427765 3427765 + RNA SNP G G C TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr11:3427765G>C ENST00000529482.1 + 0 882 CACACGTCCTGCAGTGGCCTG 0.602000 3 29 0 0 1 0 0 TAS2R30 259293 broad.mit.edu 37 12 11286073 11286073 + Missense_Mutation SNP C C A TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr12:11286073C>A ENST00000539585.1 - 1 1170 c.771G>T c.(769-771)aaG>aaT p.K257N TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_001097643.1 NP_001091112.1 taste receptor, type 2, member 30 autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1) 13 AGACAGGTTGCTTTTCCAGCC 0.388000 7 133 0.00198382 0.00232069 1 1 0 WDR82 80335 broad.mit.edu 37 3 52304734 52304734 + Missense_Mutation SNP T T C TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr3:52304734T>C ENST00000296490.3 - 2 534 c.253A>G c.(253-255)Ata>Gta p.I85V NM_025222.3 NP_079498.2 Q6UXN9 WDR82_HUMAN WD repeat domain 82 85 histone H3-K4 methylation chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex protein binding BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246) TTACCGTCTATTTTGTTAGAG 0.378000 14 128 0 0 1 0 0 RNF6 6049 broad.mit.edu 37 13 26788214 26788214 + Missense_Mutation SNP C C A TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr13:26788214C>A ENST00000381588.4 - 5 2557 c.1805G>T c.(1804-1806)cGa>cTa p.R602L RNF6_ENST00000399762.2_Missense_Mutation_p.R246L|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000381570.3_Missense_Mutation_p.R602L|RNF6_ENST00000346166.3_Missense_Mutation_p.R602L NM_005977.3 NP_005968.1 Q9Y252 RNF6_HUMAN ring finger protein (C3H2C3 type) 6 602 negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process axon|cytoplasm|PML body androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2) 23 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245) ACCACGTATTCGATCATCATC 0.373000 8 107 1.12685e-05 1.42581e-05 1 1 0 FLG 2312 broad.mit.edu 37 1 152280000 152280000 + Silent SNP C C T rs144122917 TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr1:152280000C>T ENST00000368799.1 - 3 7397 c.7362G>A c.(7360-7362)acG>acA p.T2454T FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2454 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCTCTTGGGACGTTGAGTGCC 0.577000 Ichthyosis 13 397 0 0 1 0 0 PGLYRP2 114770 broad.mit.edu 37 19 15587145 15587145 + Silent SNP C C T TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr19:15587145C>T ENST00000292609.4 - 2 465 c.336G>A c.(334-336)ctG>ctA p.L112L PGLYRP2_ENST00000340880.4_Silent_p.L112L Q96PD5 PGRP2_HUMAN peptidoglycan recognition protein 2 112 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1) 28 CATCAGGTGCCAGCACCACCC 0.617000 11 91 0 0 1 0 0 MGAT4C 25834 broad.mit.edu 37 12 86373569 86373569 + Missense_Mutation SNP A A G TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr12:86373569A>G ENST00000604798.1 - 8 2139 c.935T>C c.(934-936)aTg>aCg p.M312T MGAT4C_ENST00000393205.2_Missense_Mutation_p.M341T|MGAT4C_ENST00000332156.1_Missense_Mutation_p.M312T|MGAT4C_ENST00000548651.1_Missense_Mutation_p.M312T|MGAT4C_ENST00000552435.2_Silent_p.H100H|MGAT4C_ENST00000552808.2_Missense_Mutation_p.M312T|MGAT4C_ENST00000549405.2_Missense_Mutation_p.M312T Q9UBM8 MGT4C_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) 312 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 ATAATAGCCCATGTGCTGAAA 0.408000 10 69 0 0 1 0 0 KPNA4 3840 broad.mit.edu 37 3 160227623 160227623 + Missense_Mutation SNP T T A TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr3:160227623T>A ENST00000334256.4 - 14 1479 c.1174A>T c.(1174-1176)Ata>Tta p.I392L NM_002268.4 NP_002259.1 O00629 IMA4_HUMAN karyopherin alpha 4 (importin alpha 3) 392 NLS binding site (minor) (By similarity). NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2) 22 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) AAGTTACTTATGGCCCAAGCA 0.318000 24 115 0 0 1 0 0 TERT 7015 broad.mit.edu 37 5 1272370 1272370 + Missense_Mutation SNP G G A TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr5:1272370G>A ENST00000310581.5 - 7 2369 c.2312C>T c.(2311-2313)cCg>cTg p.P771L TERT_ENST00000508104.2_Intron|TERT_ENST00000334602.6_Missense_Mutation_p.P771L|TERT_ENST00000296820.5_Intron NM_001193376.1|NM_198253.2 NP_001180305.1|NP_937983.2 O14746 TERT_HUMAN telomerase reverse transcriptase 771 Reverse transcriptase. anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase cytoplasm|nucleolus|PML body|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) TCGCATGTACGGCTGGAGGTC 0.632000 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 3 12 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13814775 13814775 + Missense_Mutation SNP A A C TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr5:13814775A>C ENST00000265104.4 - 43 7273 c.7169T>G c.(7168-7170)gTc>gGc p.V2390G NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2390 AAA 2 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) atttcttgagacggtggcagg 0.393000 Kartagener syndrome 6 64 0 0 1 0 0 RRN3P1 730092 broad.mit.edu 37 16 21817457 21817457 + RNA SNP G G A rs150520281 by1000genomes TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr16:21817457G>A ENST00000546471.1 - 0 1601 CTTACATCCAGCTTGAGTAGT 0.259000 3 19 0 0 1 0 0 PRKD1 5587 broad.mit.edu 37 14 30100144 30100144 + Silent SNP G G A TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr14:30100144G>A ENST00000331968.5 - 10 1705 c.1476C>T c.(1474-1476)ttC>ttT p.F492F PRKD1_ENST00000415220.2_Silent_p.F500F NM_002742.2 NP_002733.2 Q15139 KPCD1_HUMAN protein kinase D1 492 PH. cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 78 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) TAGTGATTTCGAAACAATGAG 0.398000 17 75 0 0 1 0 0 TBC1D9 23158 broad.mit.edu 37 4 141591969 141591969 + Missense_Mutation SNP G G C TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr4:141591969G>C ENST00000442267.2 - 7 1245 c.1171C>G c.(1171-1173)Cta>Gta p.L391V NM_015130.2 NP_055945.2 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 391 intracellular calcium ion binding|Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) CTCTGCACTAGAAAGTCTCTA 0.453000 5 86 0 0 1 0 0 COL9A1 1297 broad.mit.edu 37 6 71009773 71009773 + Missense_Mutation SNP T T C TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr6:71009773T>C ENST00000357250.6 - 4 430 c.272A>G c.(271-273)aAt>aGt p.N91S COL9A1_ENST00000370496.3_Missense_Mutation_p.N91S NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 91 Nonhelical region (NC4).|TSP N-terminal. axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 GTCTACATTATTTCCCAACTT 0.363000 7 43 0 0 1 0 0 PBRM1 55193 broad.mit.edu 37 3 52643860 52643860 + Missense_Mutation SNP C C T TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr3:52643860C>T ENST00000356770.4 - 15 1942 c.1940G>A c.(1939-1941)cGc>cAc p.R647H PBRM1_ENST00000394830.3_Missense_Mutation_p.R679H|PBRM1_ENST00000337303.4_Missense_Mutation_p.R679H|PBRM1_ENST00000409767.1_Missense_Mutation_p.R694H|PBRM1_ENST00000409114.3_Missense_Mutation_p.R694H|PBRM1_ENST00000409057.1_Missense_Mutation_p.R679H|PBRM1_ENST00000296302.7_Missense_Mutation_p.R679H|PBRM1_ENST00000410007.1_Missense_Mutation_p.R679H Q86U86 PB1_HUMAN polybromo 1 679 chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding p.R678_R679delRR(2)|p.R646_R647delRR(1) breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) GGCACTGAGGCGGCGACCCCT 0.413000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 12 87 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4218155 4218155 + Missense_Mutation SNP G G A rs141831391 byFrequency TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr7:4218155G>A ENST00000404826.2 + 35 5174 c.5035G>A c.(5035-5037)Gcc>Acc p.A1679T SDK1_ENST00000389531.3_Missense_Mutation_p.A1659T NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1679 Fibronectin type-III 10. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) AATAATGACCGCCTATAACAT 0.547000 6 121 0 0 1 0 0 ST6GAL1 6480 broad.mit.edu 37 3 186760908 186760908 + Silent SNP C C T TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr3:186760908C>T ENST00000169298.3 + 4 1091 c.417C>T c.(415-417)gcC>gcT p.A139A ST6GAL1_ENST00000457772.2_Intron|ST6GAL1_ENST00000448044.1_Silent_p.A139A NM_173216.2 NP_775323.1 P15907 SIAT1_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 139 humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(143;2.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;8.53e-19) GBM - Glioblastoma multiforme(93;0.0939) GTGCAGAGGCCCTGCGCTGCC 0.507000 6 47 0 0 1 0 0 CD5L 922 broad.mit.edu 37 1 157804318 157804318 + Missense_Mutation SNP T T G TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr1:157804318T>G ENST00000368174.4 - 4 693 c.597A>C c.(595-597)aaA>aaC p.K199N NM_005894.2 NP_005885.1 O43866 CD5L_HUMAN CD5 molecule-like 199 SRCR 2. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity p.K199K(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 52 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GCCAGATGGGTTTTCGGCCAT 0.582000 6 49 0 0 1 0 0 IL5RA 3568 broad.mit.edu 37 3 3139681 3139681 + Silent SNP G G A TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr3:3139681G>A ENST00000446632.2 - 7 1156 c.582C>T c.(580-582)atC>atT p.I194I IL5RA_ENST00000311981.8_Silent_p.I194I|IL5RA_ENST00000456302.1_Silent_p.I194I|IL5RA_ENST00000256452.3_Silent_p.I194I|IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000438560.1_Silent_p.I194I|IL5RA_ENST00000430514.2_Silent_p.I194I|IL5RA_ENST00000383846.1_Silent_p.I194I|IL5RA_ENST00000418488.2_Silent_p.I194I NM_175726.3 NP_783853.1 Q01344 IL5RA_HUMAN interleukin 5 receptor, alpha 194 cell proliferation extracellular space|integral to membrane|plasma membrane interleukin-5 receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 24 Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944) ACCAGCATGCGATATTTCTCC 0.483000 5 74 0 0 1 0 0 HECTD2 143279 broad.mit.edu 37 10 93185163 93185163 + Missense_Mutation SNP G G T TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr10:93185163G>T ENST00000446394.1 + 2 364 c.264G>T c.(262-264)aaG>aaT p.K88N HECTD2_ENST00000371681.4_Missense_Mutation_p.K88N|HECTD2_ENST00000298068.5_Missense_Mutation_p.K88N Q5U5R9 HECD2_HUMAN HECT domain containing E3 ubiquitin protein ligase 2 88 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1) 27 CTAACATCAAGAATGGtaaat 0.294000 4 16 0.00024832 0.000296074 1 1 0 WISP3 8838 broad.mit.edu 37 6 112390582 112390582 + Missense_Mutation SNP C C A TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr6:112390582C>A ENST00000361714.1 + 5 923 c.878C>A c.(877-879)tCc>tAc p.S293Y WISP3_ENST00000368666.2_Missense_Mutation_p.S275Y|WISP3_ENST00000230529.5_Missense_Mutation_p.S275Y|WISP3_ENST00000368663.3_Missense_Mutation_p.S252Y|WISP3_ENST00000604763.1_Missense_Mutation_p.S275Y|WISP3_ENST00000409166.1_Missense_Mutation_p.S51Y O95389 WISP3_HUMAN WNT1 inducible signaling pathway protein 3 275 CTCK. cell-cell signaling|regulation of cell growth|signal transduction extracellular region|soluble fraction growth factor activity|insulin-like growth factor binding breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1) 13 all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246) TTCCAACTCTCCAAAGCTGAA 0.328000 3 44 0.115264 0.119106 1 1 0 NMT1 4836 broad.mit.edu 37 17 43182277 43182277 + Missense_Mutation SNP C C A TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr17:43182277C>A ENST00000592782.1 + 12 1514 c.1383C>A c.(1381-1383)ttC>ttA p.F461L NMT1_ENST00000258960.2_Missense_Mutation_p.F461L P30419 NMT1_HUMAN N-myristoyltransferase 1 461 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation actin cytoskeleton|cell junction|cytosol glycylpeptide N-tetradecanoyltransferase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1) 8 Prostate(33;0.155) ACAAAACCTTCCTGGAGAAGC 0.502000 3 38 0.115264 0.119106 1 1 0 ABCB6 10058 broad.mit.edu 37 2 220078333 220078333 + Missense_Mutation SNP T T C TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr2:220078333T>C ENST00000265316.3 - 10 1950 c.1634A>G c.(1633-1635)aAt>aGt p.N545S ABCB6_ENST00000439002.2_Missense_Mutation_p.N499S NM_005689.2 NP_005680.1 Q9NP58 ABCB6_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 6 545 ABC transmembrane type-1. cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 34 Renal(207;0.0474) Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCCAAACCAATTGAGGGGCAT 0.532000 4 76 0 0 1 0 0 ZBTB40 9923 broad.mit.edu 37 1 22838561 22838563 + In_Frame_Del DEL AAG AAG - TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr1:22838561_22838563delAAG ENST00000404138.1 + 12 2906_2908 c.2395_2397delAAG c.(2395-2397)del p.K803del ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del|ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 803 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) CGATGCCCCCAAGAAGAAGAAGA 0.517 8 61 --- --- --- --- CYP4B1 1580 broad.mit.edu 37 1 47283811 47283812 + Frame_Shift_Del DEL CT CT - TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr1:47283811_47283812delCT ENST00000271153.4 + 11 1314_1315 c.1278_1279delCT c.(1276-1281)gactfs p.DS426fs CYP4B1_ENST00000371923.4_Frame_Shift_Del_p.DS427fs|CYP4B1_ENST00000452782.2_Frame_Shift_Del_p.DS264fs|CYP4B1_ENST00000371919.4_Frame_Shift_Del_p.DS412fs P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, polypeptide 1 426 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 36 Acute lymphoblastic leukemia(166;0.155) AGGTCTTTGACTCTCTGCGCTT 0.584 8 93 --- --- --- --- ARL15 54622 broad.mit.edu 37 5 53182535 53182535 + Frame_Shift_Del DEL T T - TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr5:53182535delT ENST00000504924.1 - 5 564 c.471delA c.(469-471)aafs p.K157fs ARL15_ENST00000502271.1_5'UTR|ARL15_ENST00000510591.2_5'UTR NM_019087.2 NP_061960.1 Q9NXU5 ARL15_HUMAN ADP-ribosylation factor-like 15 157 GTP binding endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 6 Lung NSC(810;0.000779) GTTCAAAATATTTTTTGATCT 0.363 2 4 --- --- --- --- TMEM38B 55151 broad.mit.edu 37 9 108484899 108484900 + Frame_Shift_Ins INS - - A TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr9:108484899_108484900insA ENST00000374688.1 + 4 1087_1088 c.377_378insA c.(376-378)ttafs p.L126fs TMEM38B_ENST00000374692.3_Frame_Shift_Ins_p.L180fs Q9NVV0 TM38B_HUMAN transmembrane protein 38B 180 integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 13 CTGAAGATGTCATAGTAAGTTG 0.342 8 69 --- --- --- --- C11orf48 79081 broad.mit.edu 37 11 62435132 62435134 + In_Frame_Del DEL TCT TCT - TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr11:62435132_62435134delTCT ENST00000431002.2 - 2 2210_2212 c.477_479delAGA c.(475-480)gat>ga p.ED159del C11orf48_ENST00000532208.1_In_Frame_Del_p.ED133del|C11orf48_ENST00000354588.3_In_Frame_Del_p.ED133del|METTL12_ENST00000532971.1_3'UTR Q9BQE6 CK048_HUMAN chromosome 11 open reading frame 48 159 endometrium(1)|lung(5)|urinary_tract(1) 7 CCAACAAGCATCTTCTTCATCCT 0.537 15 266 --- --- --- --- CCNT1 904 broad.mit.edu 37 12 49087434 49087436 + In_Frame_Del DEL ATG ATG - TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr12:49087434_49087436delATG ENST00000261900.3 - 9 1783_1785 c.1561_1563delCAT c.(1561-1563)del p.H521del NM_001240.3 NP_001231.2 O60563 CCNT1_HUMAN cyclin T1 521 His-rich. cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2) 27 AGTGGTGATTATGATGATGATGA 0.443 8 406 --- --- --- ---