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 ARMC8 25852 broad.mit.edu 37 3 137942280 137942280 + Missense_Mutation SNP G G A TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr3:137942280G>A ENST00000469044.1 + 4 515 c.244G>A c.(244-246)Gaa>Aaa p.E82K ARMC8_ENST00000538260.1_Missense_Mutation_p.E82K|ARMC8_ENST00000358441.2_Missense_Mutation_p.E68K|ARMC8_ENST00000470821.1_Missense_Mutation_p.E82K|ARMC8_ENST00000471453.1_Missense_Mutation_p.E68K|ARMC8_ENST00000461822.1_Missense_Mutation_p.E82K|ARMC8_ENST00000485396.1_Missense_Mutation_p.E40K|ARMC8_ENST00000491704.1_Missense_Mutation_p.E40K|ARMC8_ENST00000489213.1_Missense_Mutation_p.E40K|ARMC8_ENST00000481646.1_Missense_Mutation_p.E68K|ARMC8_ENST00000393058.3_Missense_Mutation_p.E72K NM_001267041.1|NM_001267042.1 NP_001253970.1|NP_001253971.1 Q8IUR7 ARMC8_HUMAN armadillo repeat containing 8 82 binding endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1) 16 GCTGAAAACTGAATGTGCAGT 0.383000 22 50 0 0 1 0 0 NMRK2 27231 broad.mit.edu 37 19 3938638 3938638 + Silent SNP C C T rs142817100 TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr19:3938638C>T ENST00000168977.2 + 5 494 c.204C>T c.(202-204)acC>acT p.T68T NMRK2_ENST00000593949.1_Silent_p.T73T|NMRK2_ENST00000599576.1_Silent_p.T59T NM_170678.2 NP_733778.1 nicotinamide riboside kinase 2 TGCTGGACACCGTGCAGGCCT 0.667000 4 18 0 0 1 0 0 ZMYM3 9203 broad.mit.edu 37 X 70465902 70465902 + Missense_Mutation SNP G G C TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chrX:70465902G>C ENST00000373998.1 - 16 3280 c.2583C>G c.(2581-2583)atC>atG p.I861M ZMYM3_ENST00000373988.1_Missense_Mutation_p.I875M|ZMYM3_ENST00000314425.5_Missense_Mutation_p.I873M|ZMYM3_ENST00000353904.2_Missense_Mutation_p.I873M|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Missense_Mutation_p.I875M NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 873 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) CTGGCACGAAGATGGGCACTG 0.572000 30 13 0 0 1 0 0 MBD4 8930 broad.mit.edu 37 3 129155374 129155374 + Silent SNP C C T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr3:129155374C>T ENST00000429544.2 - 3 1308 c.1113G>A c.(1111-1113)ttG>ttA p.L371L MBD4_ENST00000509587.1_Intron|MBD4_ENST00000393278.2_Intron|MBD4_ENST00000249910.1_Silent_p.L371L|MBD4_ENST00000503197.1_Silent_p.L371L|MBD4_ENST00000507208.1_Silent_p.L371L NM_001276270.1 NP_001263199.1 O95243 MBD4_HUMAN methyl-CpG binding domain protein 4 371 depyrimidination nucleoplasm DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1) 22 TGTCAGTATGCAAATGTTCTT 0.393000 Base excision repair (BER), DNA glycosylases 52 85 0 0 1 0 0 ZNF883 169834 broad.mit.edu 37 9 115760540 115760540 + RNA SNP C C T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr9:115760540C>T ENST00000427548.1 - 0 1273 P0CG24 ZN883_HUMAN zinc finger protein 883 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding CAGATTCCATCAGTACTGAAC 0.358000 23 35 0 0 1 0 0 NLRP13 126204 broad.mit.edu 37 19 56443517 56443517 + Missense_Mutation SNP C C T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr19:56443517C>T ENST00000588751.1 - 1 185 c.161G>A c.(160-162)cGt>cAt p.R54H NLRP13_ENST00000342929.3_Missense_Mutation_p.R54H Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 54 DAPIN. ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) CCAGGGGATACGCGGGAAGTG 0.557000 4 139 0 0 1 0 0 SLC26A7 115111 broad.mit.edu 37 8 92352742 92352742 + Missense_Mutation SNP C C G TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr8:92352742C>G ENST00000276609.3 + 8 1228 c.989C>G c.(988-990)tCt>tGt p.S330C SLC26A7_ENST00000309536.2_Missense_Mutation_p.S330C|SLC26A7_ENST00000523719.1_Missense_Mutation_p.S330C NM_001282356.1|NM_052832.2 NP_001269285.1|NP_439897.1 Q8TE54 S26A7_HUMAN solute carrier family 26 (anion exchanger), member 7 330 basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) GCTCAAGGATCTGCCAAAAAA 0.512000 19 70 0 0 1 0 0 SLC2A11 66035 broad.mit.edu 37 22 24226968 24226968 + Missense_Mutation SNP A A G TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr22:24226968A>G ENST00000345044.6 + 12 1691 c.1423A>G c.(1423-1425)Aac>Gac p.N475D SLC2A11_ENST00000398356.2_Missense_Mutation_p.N482D|AP000350.10_ENST00000433835.3_Intron|SLC2A11_ENST00000316185.8_Missense_Mutation_p.N478D Q9BYW1 GTR11_HUMAN solute carrier family 2 (facilitated glucose transporter), member 11 475 integral to membrane|plasma membrane sugar transmembrane transporter activity endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2) 12 ACACAGACTCAACTTCCCCAG 0.572000 30 59 0 0 1 0 0 MPZL1 9019 broad.mit.edu 37 1 167741688 167741688 + Silent SNP C C T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr1:167741688C>T ENST00000359523.2 + 3 637 c.435C>T c.(433-435)gtC>gtT p.V145V MPZL1_ENST00000392121.3_Intron|MPZL1_ENST00000474859.1_Silent_p.V145V NM_003953.5|NM_024569.4 NP_003944.1|NP_078845.3 O95297 MPZL1_HUMAN myelin protein zero-like 1 145 Ig-like V-type. cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane protein binding|structural molecule activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2) 15 all_hematologic(923;0.215) ACATCGTTGTCCAGCCTGGAC 0.388000 27 55 0 0 1 0 0 PDCD1 5133 broad.mit.edu 37 2 242793386 242793386 + Nonsense_Mutation SNP G G A TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr2:242793386G>A ENST00000334409.5 - 5 760 c.691C>T c.(691-693)Cga>Tga p.R231* NM_005018.2 NP_005009.2 Q15116 PDCD1_HUMAN programmed cell death 1 231 apoptosis|humoral immune response|multicellular organismal development|T cell costimulation integral to membrane protein tyrosine phosphatase activity|signal transducer activity endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1) 8 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219) GTCTTCTCTCGCCACTGGAAA 0.627000 16 26 0 0 1 0 0 TAS1R2 80834 broad.mit.edu 37 1 19166532 19166532 + Missense_Mutation SNP A A C TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr1:19166532A>C ENST00000375371.3 - 6 2102 c.2081T>G c.(2080-2082)gTa>gGa p.V694G NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 694 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) CATGCCAATTACCACAATGAC 0.572000 43 96 0 0 1 0 0 IRF3 3661 broad.mit.edu 37 19 50163073 50163073 + Missense_Mutation SNP G G C TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr19:50163073G>C ENST00000600911.1 - 6 1392 c.1000C>G c.(1000-1002)Cag>Gag p.Q334E IRF3_ENST00000377139.3_Silent_p.L372L|IRF3_ENST00000600022.1_Silent_p.L99L|IRF3_ENST00000599144.1_Silent_p.L226L|IRF3_ENST00000597198.1_Silent_p.L372L|IRF3_ENST00000596822.1_Missense_Mutation_p.Q61E|IRF3_ENST00000309877.7_Silent_p.L372L|IRF3_ENST00000599223.1_Silent_p.L245L|IRF3_ENST00000599680.1_5'UTR|IRF3_ENST00000601291.1_Missense_Mutation_p.Q378E|IRF3_ENST00000377135.4_Silent_p.L245L|IRF3_ENST00000593922.1_Silent_p.L226L|IRF3_ENST00000598808.1_Silent_p.L226L|IRF3_ENST00000596765.1_Silent_p.L99L Q14653 IRF3_HUMAN interferon regulatory factor 3 334 Involved in HERC5 binding. interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|endosome membrane|nucleoplasm|plasma membrane DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1) 10 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02) CCAAGGCCCTGAGGCACGTGG 0.607000 18 23 0 0 1 0 0 MTTP 4547 broad.mit.edu 37 4 100518266 100518266 + Missense_Mutation SNP G G C TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr4:100518266G>C ENST00000457717.1 + 9 1208 c.952G>C c.(952-954)Gac>Cac p.D318H RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Missense_Mutation_p.D318H|MTTP_ENST00000511045.1_Missense_Mutation_p.D345H NM_000253.2 NP_000244.2 P55157 MTP_HUMAN microsomal triglyceride transfer protein 318 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) CCTGCAGCCTGACAACCTTTC 0.488000 38 76 0 0 1 0 0 RHCE 6006 broad.mit.edu 37 1 25717278 25717278 + Missense_Mutation SNP C C T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr1:25717278C>T ENST00000349320.3 - 7 1103 c.715G>A c.(715-717)Ggg>Agg p.G239R RHCE_ENST00000243186.6_Missense_Mutation_p.G255R|RHCE_ENST00000346452.4_Intron|RHCE_ENST00000455194.1_Intron|RHCE_ENST00000413854.1_Missense_Mutation_p.G255R|RHCE_ENST00000374352.2_Missense_Mutation_p.G239R|RHCE_ENST00000349438.4_Missense_Mutation_p.G255R|RHCE_ENST00000425135.1_Missense_Mutation_p.G255R|RHCE_ENST00000294413.7_Missense_Mutation_p.G255R|RHCE_ENST00000340849.4_Intron P18577 RHCE_HUMAN Rh blood group, CcEe antigens 255 integral to plasma membrane endometrium(8)|large_intestine(6)|lung(3) 17 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649) AAGGATGACCCTGAGATGGCT 0.512000 26 84 0 0 1 0 0 APOBEC4 403314 broad.mit.edu 37 1 183617264 183617264 + Missense_Mutation SNP C C G TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr1:183617264C>G ENST00000308641.4 - 2 924 c.653G>C c.(652-654)aGa>aCa p.R218T APOBEC4_ENST00000481562.1_Intron|RGL1_ENST00000536277.1_Intron|RGL1_ENST00000304685.4_Intron NM_203454.2 NP_982279.1 Q8WW27 ABEC4_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative) 218 mRNA processing hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1) 21 AGCCAGTGCTCTCCCAGTTAA 0.433000 35 58 0 0 1 0 0 WDR17 116966 broad.mit.edu 37 4 177081163 177081163 + Missense_Mutation SNP C C G TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr4:177081163C>G ENST00000393643.2 + 19 2796 c.2544C>G c.(2542-2544)atC>atG p.I848M WDR17_ENST00000508596.1_Missense_Mutation_p.I848M|WDR17_ENST00000507824.2_Missense_Mutation_p.I855M|WDR17_ENST00000280190.4_Missense_Mutation_p.I872M NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 872 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) ACCAATTAATCCAGGAAGATA 0.338000 11 30 0 0 1 0 0 UQCRC2 7385 broad.mit.edu 37 16 21985275 21985275 + Missense_Mutation SNP C C T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr16:21985275C>T ENST00000268379.4 + 11 1789 c.1025C>T c.(1024-1026)tCc>tTc p.S342F UQCRC2_ENST00000561553.1_Missense_Mutation_p.S342F NM_003366.2 NP_003357.2 P22695 QCR2_HUMAN ubiquinol-cytochrome c reductase core protein II 342 aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1) 15 GBM - Glioblastoma multiforme(48;0.0264) TATACTATCTCCCAGGCCACA 0.393000 23 51 0 0 1 0 0 ZNF521 25925 broad.mit.edu 37 18 22805058 22805058 + Missense_Mutation SNP C C T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr18:22805058C>T ENST00000361524.3 - 4 2972 c.2824G>A c.(2824-2826)Gaa>Aaa p.E942K ZNF521_ENST00000584787.1_Missense_Mutation_p.E722K|ZNF521_ENST00000538137.2_Missense_Mutation_p.E942K NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 942 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) AGGCCATTTTCGGAGAAGAAG 0.488000 T PAX5 ALL 42 82 0 0 1 0 0 MAP9 79884 broad.mit.edu 37 4 156281471 156281471 + Missense_Mutation SNP T T A TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr4:156281471T>A ENST00000311277.4 - 7 1162 c.899A>T c.(898-900)gAg>gTg p.E300V AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000609254.1_RNA|AC097467.2_ENST00000598890.1_RNA|AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000600928.1_RNA|AC097467.2_ENST00000608406.1_RNA|AC097467.2_ENST00000594492.1_RNA|AC097467.2_ENST00000594666.1_RNA|AC097467.2_ENST00000597831.1_RNA|AC097467.2_ENST00000596165.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.E276V|AC097467.2_ENST00000596754.1_RNA|AC097467.2_ENST00000598252.1_RNA NM_001039580.1 NP_001034669.1 Q49MG5 MAP9_HUMAN microtubule-associated protein 9 300 cell division|mitosis cytoplasm|microtubule|spindle NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.143) CTTGGATTTCTCAACTGCAGT 0.368000 21 54 0 0 1 0 0 PCDH8 5100 broad.mit.edu 37 13 53420940 53420940 + Silent SNP G G A TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr13:53420940G>A ENST00000377942.3 - 1 1835 c.1632C>T c.(1630-1632)gcC>gcT p.A544A PCDH8_ENST00000338862.4_Silent_p.A544A NM_002590.3 NP_002581.2 O95206 PCDH8_HUMAN protocadherin 8 544 Cadherin 5. cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) CGGCGCCCCCGGCGCGGCCCA 0.716000 4 3 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237947781 237947781 + Nonsense_Mutation SNP C C T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr1:237947781C>T ENST00000366574.2 + 90 13086 c.12769C>T c.(12769-12771)Cga>Tga p.R4257* RYR2_ENST00000360064.6_Nonsense_Mutation_p.R4263*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.R4241*|RYR2_ENST00000609119.1_3'UTR NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4257 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GACCCTTATGCGAATGCTCAG 0.502000 12 20 0 0 1 0 0 CCAR1 55749 broad.mit.edu 37 10 70547732 70547732 + Missense_Mutation SNP C C T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr10:70547732C>T ENST00000265872.6 + 22 3048 c.2929C>T c.(2929-2931)Cgg>Tgg p.R977W CCAR1_ENST00000543719.1_Missense_Mutation_p.R962W|CCAR1_ENST00000535016.1_Missense_Mutation_p.R962W NM_001282959.1|NM_001282960.1|NM_018237.2 NP_001269888.1|NP_001269889.1|NP_060707.2 Q8IX12 CCAR1_HUMAN cell division cycle and apoptosis regulator 1 977 apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3) 56 TTGCTTTTACCGGAAATTAAC 0.343000 12 42 0 0 1 0 0 OR4D2 124538 broad.mit.edu 37 17 56247787 56247787 + Silent SNP C C G TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr17:56247787C>G ENST00000545221.1 + 1 771 c.771C>G c.(769-771)ctC>ctG p.L257L NM_001004707.3 NP_001004707.1 P58180 OR4D2_HUMAN olfactory receptor, family 4, subfamily D, member 2 257 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1) 26 GCATTTACCTCTATGCCCGGC 0.542000 38 80 0 0 1 0 0 LMAN1L 79748 broad.mit.edu 37 15 75109019 75109019 + Missense_Mutation SNP C C T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr15:75109019C>T ENST00000309664.5 + 4 624 c.485C>T c.(484-486)tCt>tTt p.S162F LMAN1L_ENST00000379709.3_Missense_Mutation_p.S162F NM_021819.2 NP_068591.2 Q9HAT1 LMA1L_HUMAN lectin, mannose-binding, 1 like 162 L-type lectin-like. ER-Golgi intermediate compartment membrane|integral to membrane sugar binding NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CACATCCCCTCTGAGCAGCCT 0.677000 17 36 0 0 1 0 0 PF4V1 5197 broad.mit.edu 37 4 74719571 74719571 + Missense_Mutation SNP A A T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr4:74719571A>T ENST00000226524.3 + 2 346 c.172A>T c.(172-174)Atc>Ttc p.I58F NM_002620.2 NP_002611.1 P10720 PF4V_HUMAN platelet factor 4 variant 1 58 immune response extracellular region chemokine activity|heparin binding endometrium(1)|liver(2) 3 Breast(15;0.00102) all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) TCCCAGGCACATCACCAGCCT 0.612000 11 19 0 0 1 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5239831 5239831 + Silent SNP G G A TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr5:5239831G>A ENST00000274181.7 + 16 2454 c.2316G>A c.(2314-2316)cgG>cgA p.R772R NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 772 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 CTGGAGCCCGGAGTATCCGCA 0.473000 39 99 0 0 1 0 0 KIAA1683 80726 broad.mit.edu 37 19 18378153 18378153 + Missense_Mutation SNP G G A rs140481493 TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr19:18378153G>A ENST00000392413.4 - 3 412 c.197C>T c.(196-198)cCg>cTg p.P66L KIAA1683_ENST00000600359.3_Missense_Mutation_p.P20L|KIAA1683_ENST00000600328.3_Missense_Mutation_p.P66L NM_001145304.1 NP_001138776.1 Q9H0B3 K1683_HUMAN KIAA1683 mitochondrion breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 AGGCTGTTGCGGAAGATGCTC 0.642000 31 57 0 0 1 0 0 ISG15 9636 broad.mit.edu 37 1 949846 949846 + Silent SNP C C T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr1:949846C>T ENST00000379389.4 + 2 637 c.486C>T c.(484-486)ggC>ggT p.G162G NM_005101.3 NP_005092.1 P05161 ISG15_HUMAN ISG15 ubiquitin-like modifier 162 cell-cell signaling|interspecies interaction between organisms|ISG15-protein conjugation|negative regulation of type I interferon production|response to virus|type I interferon-mediated signaling pathway cytosol|extracellular space protein binding endometrium(1)|lung(1)|upper_aerodigestive_tract(1) 3 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.05e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.54e-23)|Colorectal(212;5.37e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00238)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) CAGAGCCTGGCGGGCGGAGCT 0.637000 15 34 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117723945 117723945 + Silent SNP C C T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr12:117723945C>T ENST00000317775.6 - 6 1939 c.1254G>A c.(1252-1254)tcG>tcA p.S418S NOS1_ENST00000338101.4_Silent_p.S418S|NOS1_ENST00000344089.3_3'UTR NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 418 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) CCACACAGCGCGAGGCATTCC 0.562000 25 90 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7503307 7503307 + Silent SNP G G C TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr3:7503307G>C ENST00000486284.1 + 7 1687 c.1413G>C c.(1411-1413)ggG>ggC p.G471G GRM7_ENST00000402647.2_Silent_p.G471G|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Silent_p.G471G|GRM7_ENST00000357716.4_Silent_p.G471G|GRM7_ENST00000403881.1_Silent_p.G471G NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 471 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) ACAAGAACGGGGATGCACCTG 0.453000 8 136 0 0 1 0 0 AFF3 3899 broad.mit.edu 37 2 100360567 100360567 + Splice_Site SNP T T G TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr2:100360567T>G ENST00000409236.2 - 8 1150 c.1038A>C c.(1036-1038)ccA>ccC p.P346P AFF3_ENST00000356421.2_Splice_Site_p.P371P|AFF3_ENST00000409579.1_Splice_Site_p.P371P|AFF3_ENST00000317233.4_Splice_Site_p.P346P P51826 AFF3_HUMAN AF4/FMR2 family, member 3 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 CTTTCTTACTTGGATTATTGT 0.433000 25 59 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124392379 124392379 + Missense_Mutation SNP C C G TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr10:124392379C>G ENST00000338354.3 + 48 6089 c.5983C>G c.(5983-5985)Cct>Gct p.P1995A DMBT1_ENST00000330163.4_Missense_Mutation_p.P1367A|DMBT1_ENST00000368956.2_Missense_Mutation_p.P1367A|DMBT1_ENST00000359586.6_Missense_Mutation_p.P715A|DMBT1_ENST00000368955.3_Missense_Mutation_p.P1985A|DMBT1_ENST00000368909.3_Missense_Mutation_p.P1995A|DMBT1_ENST00000344338.3_Missense_Mutation_p.P1985A Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 1995 epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GTCAACAGCTCCTTTTCTCAA 0.498000 9 12 0 0 1 0 0 TRPC6 7225 broad.mit.edu 37 11 101454132 101454132 + Missense_Mutation SNP C C G TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr11:101454132C>G ENST00000344327.3 - 1 527 c.103G>C c.(103-105)Gac>Cac p.D35H TRPC6_ENST00000348423.4_Missense_Mutation_p.D35H|TRPC6_ENST00000532133.1_Missense_Mutation_p.D35H|TRPC6_ENST00000526713.1_Intron|TRPC6_ENST00000360497.4_Missense_Mutation_p.D35H NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 35 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) AGCTCCGAGTCCATGAGCAGA 0.726000 5 10 0 0 1 0 0 RORA 6095 broad.mit.edu 37 15 60803787 60803787 + Missense_Mutation SNP C C G TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr15:60803787C>G ENST00000335670.6 - 5 558 c.458G>C c.(457-459)aGa>aCa p.R153T RORA_ENST00000309157.4_Missense_Mutation_p.R178T|RP11-219B17.1_ENST00000558140.1_RNA|RP11-219B17.1_ENST00000559824.1_RNA|RP11-219B17.1_ENST00000559902.1_RNA|RORA_ENST00000449337.2_Missense_Mutation_p.R98T|RP11-219B17.1_ENST00000501579.2_RNA|RORA_ENST00000261523.5_Missense_Mutation_p.R186T|RORA_ENST00000560004.1_5'UTR|RP11-219B17.1_ENST00000558235.1_RNA NM_134261.2 NP_599023.1 P35398 RORA_HUMAN RAR-related orphan receptor A 186 positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 21 CAAGCTGTCTCTCTGCTTTTT 0.502000 19 37 0 0 1 0 0 KIAA1715 80856 broad.mit.edu 37 2 176860340 176860340 + Translation_Start_Site SNP G G C TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr2:176860340G>C ENST00000272748.4 - 0 220 KIAA1715_ENST00000466445.1_5'UTR|KIAA1715_ENST00000544803.1_De_novo_Start_InFrame|KIAA1715_ENST00000535310.1_De_novo_Start_InFrame NM_030650.1 NP_085153.1 Q9C0E8 LNP_HUMAN KIAA1715 integral to membrane protein binding endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(117;0.0793) TGGGCACAATGATAAATATCA 0.328000 17 32 0 0 1 0 0 RPAP1 26015 broad.mit.edu 37 15 41812852 41812852 + Missense_Mutation SNP G G C TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr15:41812852G>C ENST00000304330.4 - 22 3648 c.3532C>G c.(3532-3534)Ctg>Gtg p.L1178V RPAP1_ENST00000561603.1_Intron NM_015540.2 NP_056355.2 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 1178 Leu-rich. nucleus DNA binding|DNA-directed RNA polymerase activity NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 45 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) GCTGCCACCAGATGCTGTACT 0.632000 26 52 0 0 1 0 0 CDK18 5129 broad.mit.edu 37 1 205496927 205496927 + Silent SNP C C T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr1:205496927C>T ENST00000360066.2 + 9 1036 c.735C>T c.(733-735)ttC>ttT p.F245F CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000429964.2_Silent_p.F245F|CDK18_ENST00000506784.1_Silent_p.F275F NM_002596.3|NM_212502.2|NM_212503.2 NP_002587.2|NP_997667.1|NP_997668.1 Q07002 CDK18_HUMAN cyclin-dependent kinase 18 243 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1) 19 CCCAGATTTTCATGTTCCAGC 0.637000 33 79 0 0 1 0 0 EXOSC9 5393 broad.mit.edu 37 4 122723856 122723856 + Silent SNP T T G TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr4:122723856T>G ENST00000512454.1 + 2 357 c.141T>G c.(139-141)ctT>ctG p.L47L EXOSC9_ENST00000243498.5_Silent_p.L63L|EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000379663.3_Silent_p.L63L Q06265 EXOS9_HUMAN exosome component 9 63 ARE binding. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus 3'-5'-exoribonuclease activity|AU-rich element binding|protein binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1) 16 CCTGTGAACTTGTGTCTCCAA 0.388000 19 51 0 0 1 0 0 XKR7 343702 broad.mit.edu 37 20 30556184 30556184 + Missense_Mutation SNP C C T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr20:30556184C>T ENST00000562532.2 + 1 380 c.206C>T c.(205-207)tCc>tTc p.S69F NM_001011718.1 NP_001011718.1 Q5GH72 XKR7_HUMAN XK, Kell blood group complex subunit-related family, member 7 integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) GTGTTCTTCTCCGACGGTGCC 0.706000 4 93 0 0 1 0 0 OR2W5 441932 broad.mit.edu 37 1 247654469 247654469 + RNA SNP C C T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr1:247654469C>T ENST00000522351.1 + 0 100 A6NFC9 OR2W5_HUMAN sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4) 39 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) GGCATTCATCCTGGTGGGCTC 0.473000 23 47 0 0 1 0 0 RP11-478B9.1 0 broad.mit.edu 37 12 45458068 45458068 + RNA SNP A A C TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr12:45458068A>C ENST00000548424.1 + 0 448 ATCATTGGAAAAGTCTGGGAC 0.507000 32 37 0 0 1 0 0 RPL23AP53 644128 broad.mit.edu 37 8 163215 163215 + RNA SNP G G A TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr8:163215G>A ENST00000606975.1 - 0 706 AGATACACATGTATTTAGAGT 0.323000 4 33 0 0 1 0 0 TCEB3B 51224 broad.mit.edu 37 18 44559943 44559943 + Missense_Mutation SNP C C T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr18:44559943C>T ENST00000332567.4 - 1 2045 c.1693G>A c.(1693-1695)Gat>Aat p.D565N KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 565 Activation domain (By similarity). regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 TACAGCTGATCGGGCCTCCAC 0.527000 16 33 0 0 1 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54925052 54925052 + Missense_Mutation SNP G G T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr12:54925052G>T ENST00000293373.6 + 23 2594 c.2515G>T c.(2515-2517)Gcc>Tcc p.A839S NCKAP1L_ENST00000545638.2_Missense_Mutation_p.A789S NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 839 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 AGAGATGCGGGCCTTGGCAGA 0.473000 50 179 1.67886e-27 1.81876e-27 1 1 0 SALL3 27164 broad.mit.edu 37 18 76754241 76754241 + Silent SNP C C T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr18:76754241C>T ENST00000536229.3 + 1 2560 c.1851C>T c.(1849-1851)aaC>aaT p.N617N SALL3_ENST00000575389.2_Silent_p.N750N|SALL3_ENST00000537592.2_Silent_p.N750N Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 750 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) AGTTCACCAACGCCGTGGTCC 0.657000 16 25 0 0 1 0 0 SLC9A7P1 121456 broad.mit.edu 37 12 98850235 98850235 + RNA SNP G G A TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr12:98850235G>A ENST00000554295.1 - 0 688 NR_033801.1 TTTCCAATACGGAAGCACGAA 0.403000 13 46 0 0 1 0 0 SF3A3 10946 broad.mit.edu 37 1 38446335 38446335 + Missense_Mutation SNP C C A TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr1:38446335C>A ENST00000373019.4 - 8 1568 c.613G>T c.(613-615)Gat>Tat p.D205Y SF3A3_ENST00000489537.1_5'UTR|SF3A3_ENST00000448721.2_Missense_Mutation_p.D152Y NM_006802.2 NP_006793.1 Q12874 SF3A3_HUMAN splicing factor 3a, subunit 3, 60kDa 205 nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nuclear speck nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2) 12 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) TCATTCTGATCTTGGAGAGGC 0.453000 30 56 1.39806e-14 1.4809e-14 1 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33684079 33684079 + Missense_Mutation SNP C C T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr5:33684079C>T ENST00000504830.1 - 4 1051 c.716G>A c.(715-717)cGg>cAg p.R239Q ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R239Q NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 239 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 GATGGAACGCCGAGAGAGGCT 0.507000 HNSCC(64;0.19) 38 74 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240371020 240371020 + Missense_Mutation SNP C C A TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr1:240371020C>A ENST00000319653.9 + 5 3138 c.2908C>A c.(2908-2910)Ctt>Att p.L970I NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 970 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) TCCTCCCCCTCTTCCCGGAGC 0.701000 6 22 0.00198382 0.00201196 1 1 0 DENND1C 79958 broad.mit.edu 37 19 6477281 6477281 + Missense_Mutation SNP G G A TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr19:6477281G>A ENST00000381480.2 - 8 573 c.461C>T c.(460-462)aCg>aTg p.T154M DENND1C_ENST00000543576.1_Missense_Mutation_p.T110M|DENND1C_ENST00000591030.1_5'UTR NM_024898.2 NP_079174.2 Q8IV53 DEN1C_HUMAN DENN/MADD domain containing 1C 154 DENN. clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity endometrium(3)|kidney(3)|large_intestine(1)|lung(3) 10 GCTGGAGACCGTCACTCCGCT 0.687000 6 20 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183245189 183245189 + Missense_Mutation SNP C C T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr4:183245189C>T ENST00000511685.1 + 2 139 c.16C>T c.(16-18)Cgc>Tgc p.R6C TENM3_ENST00000406950.2_Missense_Mutation_p.R6C teneurin transmembrane protein 3 TGTGAAAGAACGCAGGCCTTA 0.517000 5 19 0 0 1 0 0 WWC2 80014 broad.mit.edu 37 4 184210770 184210770 + Silent SNP G G A TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr4:184210770G>A ENST00000403733.3 + 21 3565 c.3366G>A c.(3364-3366)ctG>ctA p.L1122L WWC2_ENST00000448232.2_Silent_p.L1146L|WWC2_ENST00000508747.1_Silent_p.L250L|WWC2_ENST00000504005.1_Silent_p.L804L|WWC2_ENST00000513834.1_Silent_p.L1073L NM_024949.5 NP_079225.5 Q6AWC2 WWC2_HUMAN WW and C2 domain containing 2 1122 p.L1122L(1) NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3) 32 all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202) all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242) AGAGGCTTCTGAAGCAAGCTG 0.542000 21 43 0 0 1 0 0 COL16A1 1307 broad.mit.edu 37 1 32120918 32120918 + Silent SNP G G A TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr1:32120918G>A ENST00000373672.3 - 67 4803 c.4287C>T c.(4285-4287)tcC>tcT p.S1429S RP11-73M7.6_ENST00000591592.1_RNA|RP11-73M7.6_ENST00000609373.1_RNA|RP11-73M7.6_ENST00000609625.1_RNA|RP11-73M7.6_ENST00000585413.1_RNA|RP11-73M7.6_ENST00000593188.1_RNA|RP11-73M7.6_ENST00000610043.1_RNA|RP11-73M7.6_ENST00000591929.1_RNA|RP11-73M7.6_ENST00000608888.1_RNA|RP11-73M7.6_ENST00000609033.1_RNA|RP11-73M7.6_ENST00000607926.1_RNA|RP11-73M7.6_ENST00000585660.1_RNA|RP11-73M7.6_ENST00000609549.1_RNA|RP11-73M7.6_ENST00000587445.1_RNA|RP11-73M7.6_ENST00000610216.1_RNA|COL16A1_ENST00000271069.6_Silent_p.S1429S|RP11-73M7.6_ENST00000608246.1_RNA|RP11-73M7.6_ENST00000589462.1_RNA|COL16A1_ENST00000461217.1_5'UTR|RP11-73M7.6_ENST00000608332.1_RNA|RP11-73M7.6_ENST00000609338.1_RNA NM_001856.3 NP_001847.3 Q07092 COGA1_HUMAN collagen, type XVI, alpha 1 1429 Triple-helical region 2 (COL2) with 2 imperfections. cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4) 48 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) CCCTTACCATGGAGCCAGGCA 0.657000 6 32 0 0 1 0 0 ZNF175 7728 broad.mit.edu 37 19 52090224 52090224 + Missense_Mutation SNP C C G TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr19:52090224C>G ENST00000262259.2 + 5 998 c.640C>G c.(640-642)Cag>Gag p.Q214E ZNF175_ENST00000436511.2_Intron NM_007147.2 NP_009078.1 Q9Y473 ZN175_HUMAN zinc finger protein 175 214 response to virus cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257) AGTGAACGGTCAGAATGAAAG 0.438000 20 51 0 0 1 0 0 XKR7 343702 broad.mit.edu 37 20 30556179 30556179 + Missense_Mutation SNP C C G rs11904972 TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr20:30556179C>G ENST00000562532.2 + 1 375 c.201C>G c.(199-201)ttC>ttG p.F67L NM_001011718.1 NP_001011718.1 Q5GH72 XKR7_HUMAN XK, Kell blood group complex subunit-related family, member 7 integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) TGCTCGTGTTCTTCTCCGACG 0.711000 4 90 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113651024 113651024 + Missense_Mutation SNP G G A TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr8:113651024G>A ENST00000297405.5 - 21 3671 c.3427C>T c.(3427-3429)Cca>Tca p.P1143S CSMD3_ENST00000455883.2_Missense_Mutation_p.P1039S|CSMD3_ENST00000352409.3_Missense_Mutation_p.P1143S|CSMD3_ENST00000343508.3_Missense_Mutation_p.P1103S NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1143 CUB 6. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TTGATTGTTGGAGGAAGATCT 0.403000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 16 77 0 0 1 0 0 EXO1 9156 broad.mit.edu 37 1 242042339 242042339 + Silent SNP T T A TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr1:242042339T>A ENST00000366548.3 + 13 2396 c.1803T>A c.(1801-1803)acT>acA p.T601T EXO1_ENST00000518483.1_Silent_p.T601T|EXO1_ENST00000348581.5_Silent_p.T601T NM_130398.3 NP_569082.2 Q9UQ84 EXO1_HUMAN exonuclease 1 601 Interaction with MSH2. meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2) 45 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) CACCACCCACTTTGGGAACAC 0.453000 Editing and processing nucleases 44 86 0 0 1 0 0 RTL1 388015 broad.mit.edu 37 14 101350980 101350980 + Missense_Mutation SNP C C T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr14:101350980C>T ENST00000534062.1 - 1 204 c.146G>A c.(145-147)aGc>aAc p.S49N NM_001134888.2 NP_001128360.1 E9PKS8 E9PKS8_HUMAN retrotransposon-like 1 49 breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2) 21 GGCTGGGCCGCTGGCTGGCCC 0.602000 27 85 0 0 1 0 0 GJA5 2702 broad.mit.edu 37 1 147231196 147231196 + Missense_Mutation SNP C C T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr1:147231196C>T ENST00000271348.2 - 2 312 c.151G>A c.(151-153)Gat>Aat p.D51N GJA5_ENST00000369237.1_Missense_Mutation_p.D51N NM_005266.5 NP_005257.2 P36382 CXA5_HUMAN gap junction protein, alpha 5, 40kDa 51 angiogenesis|cell-cell junction assembly|muscle contraction integral to membrane breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 20 all_hematologic(923;0.0276) LUSC - Lung squamous cell carcinoma(543;0.202) CACCGGAAATCAGCCTGCTCA 0.562000 19 33 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92087472 92087472 + Missense_Mutation SNP G G C TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr11:92087472G>C ENST00000298047.6 + 1 2211 c.2194G>C c.(2194-2196)Gat>Cat p.D732H FAT3_ENST00000525166.1_Missense_Mutation_p.D582H|FAT3_ENST00000541502.1_Missense_Mutation_p.D732H|FAT3_ENST00000409404.2_Missense_Mutation_p.D732H Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 732 Cadherin 7. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TTTTCCTTCTGATGTGGCTGT 0.383000 TCGA Ovarian(4;0.039) 42 127 0 0 1 0 0 CTIF 9811 broad.mit.edu 37 18 46287781 46287781 + Silent SNP G G A rs141427281 by1000genomes TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr18:46287781G>A ENST00000256413.3 + 9 1387 c.1092G>A c.(1090-1092)acG>acA p.T364T CTIF_ENST00000382998.4_Silent_p.T366T NM_014772.2 NP_055587.1 O43310 CTIF_HUMAN CBP80/20-dependent translation initiation factor 364 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation perinuclear region of cytoplasm protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 31 CCGTGGAGACGACCACTCCCC 0.577000 18 41 0 0 1 0 0 UBXN8 7993 broad.mit.edu 37 8 30612199 30612199 + RNA SNP G G A TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr8:30612199G>A ENST00000519246.1 + 0 499 O00124 UBXN8_HUMAN UBX domain protein 8 single fertilization central_nervous_system(1)|lung(2) 3 GATACATAGAGAATGTTTTAA 0.358000 6 74 0 0 1 0 0 CYP2D6 1565 broad.mit.edu 37 22 42523491 42523491 + Missense_Mutation SNP C C T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr22:42523491C>T ENST00000360608.5 - 7 1245 c.1131G>A c.(1129-1131)atG>atA p.M377I NDUFA6-AS1_ENST00000416037.2_RNA|CYP2D6_ENST00000359033.4_Missense_Mutation_p.M326I|NDUFA6-AS1_ENST00000439129.1_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.M377I NM_000106.5 NP_000097 Q6NWU0 Q6NWU0_HUMAN cytochrome P450, family 2, subfamily D, polypeptide 6 377 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 CACGGGATGTCATATGGGTCA 0.617000 9 28 0 0 1 0 0 NAA15 80155 broad.mit.edu 37 4 140258081 140258081 + Missense_Mutation SNP G G C TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr4:140258081G>C ENST00000296543.5 + 3 542 c.219G>C c.(217-219)ttG>ttC p.L73F NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Missense_Mutation_p.L73F NM_057175.3 NP_476516.1 Q9BXJ9 NAA15_HUMAN N(alpha)-acetyltransferase 15, NatA auxiliary subunit 73 angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex protein binding NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 GTAGAGGTTTGAGAAATGACT 0.353000 6 40 0 0 1 0 0 TICAM1 148022 broad.mit.edu 37 19 4817687 4817687 + Nonsense_Mutation SNP G G A TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr19:4817687G>A ENST00000248244.5 - 2 932 c.703C>T c.(703-705)Cag>Tag p.Q235* NM_182919.3 NP_891549.1 Q8IUC6 TCAM1_HUMAN toll-like receptor adaptor molecule 1 235 Pro-rich. apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein kinase binding|signal transducer activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) AAGCTGGCCTGGGGGTCGTCA 0.672000 13 26 0 0 1 0 0 SF3A3 10946 broad.mit.edu 37 1 38446330 38446330 + Missense_Mutation SNP C C A TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr1:38446330C>A ENST00000373019.4 - 8 1573 c.618G>T c.(616-618)caG>caT p.Q206H SF3A3_ENST00000489537.1_5'UTR|SF3A3_ENST00000448721.2_Missense_Mutation_p.Q153H NM_006802.2 NP_006793.1 Q12874 SF3A3_HUMAN splicing factor 3a, subunit 3, 60kDa 206 nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nuclear speck nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2) 12 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) AAAGTTCATTCTGATCTTGGA 0.458000 30 56 1.39806e-14 1.4809e-14 1 1 0 KCNA3 3738 broad.mit.edu 37 1 111216307 111216307 + Missense_Mutation SNP G G T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr1:111216307G>T ENST00000369769.2 - 1 1348 c.1125C>A c.(1123-1125)ttC>ttA p.F375L NM_002232.3 NP_002223.3 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 3 375 voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1) 38 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) GCGACAGCTTGAAGATGCGGA 0.602000 42 71 1.48734e-19 1.59917e-19 1 1 0 SPARCL1 8404 broad.mit.edu 37 4 88412020 88412020 + Missense_Mutation SNP C C G TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr4:88412020C>G ENST00000418378.1 - 7 1873 c.1302G>C c.(1300-1302)atG>atC p.M434I SPARCL1_ENST00000282470.6_Missense_Mutation_p.M434I|SPARCL1_ENST00000503414.1_Missense_Mutation_p.M309I NM_001128310.1 NP_001121782.1 Q14515 SPRL1_HUMAN SPARC-like 1 (hevin) 434 Follistatin-like. signal transduction extracellular space|proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2) 21 OV - Ovarian serous cystadenocarcinoma(123;0.00118) ACTGGAAGCTCATGCAAGAAT 0.418000 13 44 0 0 1 0 0 OR4D2 124538 broad.mit.edu 37 17 56247358 56247358 + Silent SNP C C T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr17:56247358C>T ENST00000545221.1 + 1 342 c.342C>T c.(340-342)ttC>ttT p.F114F NM_001004707.3 NP_001004707.1 P58180 OR4D2_HUMAN olfactory receptor, family 4, subfamily D, member 2 114 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1) 26 TGGTCTTCTTCCTCTCAGTGA 0.552000 30 88 0 0 1 0 0 ZIC3 7547 broad.mit.edu 37 X 136649615 136649615 + Missense_Mutation SNP G G C TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chrX:136649615G>C ENST00000287538.5 + 1 1315 c.765G>C c.(763-765)tgG>tgC p.W255C ZIC3_ENST00000370606.3_Missense_Mutation_p.W255C NM_003413.3 NP_003404.1 O60481 ZIC3_HUMAN Zic family member 3 255 W -> G (in HTX1; decreases protein expression and transcriptional activity and increases its cytoplasmic localization). cell differentiation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(192;0.000127) CGTGCAAGTGGATCGACGAGG 0.607000 31 18 0 0 1 0 0 ITGAD 3681 broad.mit.edu 37 16 31404690 31404690 + Silent SNP C C T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr16:31404690C>T ENST00000389202.2 + 1 58 c.9C>T c.(7-9)ttC>ttT p.F3F NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 3 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GGATGACCTTCGGCACTGTGC 0.587000 33 86 0 0 1 0 0 NRG1 3084 broad.mit.edu 37 8 32505705 32505705 + Missense_Mutation SNP G G C TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr8:32505705G>C ENST00000520502.2 + 1 469 c.469G>C c.(469-471)Gtg>Ctg p.V157L NRG1_ENST00000519301.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000405005.3_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000521670.1_Intron NM_013959.3 NP_039253.1 Q02297 NRG1_HUMAN neuregulin 1 0 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) TCAAGTTACAGTGCAAGGTGA 0.512000 23 71 0 0 1 0 0 ZNF676 163223 broad.mit.edu 37 19 22363386 22363386 + Missense_Mutation SNP G G A TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr19:22363386G>A ENST00000397121.2 - 3 1450 c.1133C>T c.(1132-1134)tCa>tTa p.S378L NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 378 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S378L(1) NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) ATTAAGGGTTGAGACCTTACT 0.393000 8 128 0 0 1 0 0 TDGF1P3 6998 broad.mit.edu 37 X 109764771 109764771 + RNA SNP C C T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chrX:109764771C>T ENST00000602699.1 + 0 1232 NR_002718.2 ACGGTCAGCTCCGCTGCTTTC 0.567000 22 15 0 0 1 0 0 VPS16 64601 broad.mit.edu 37 20 2843564 2843564 + Missense_Mutation SNP C C T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr20:2843564C>T ENST00000380445.3 + 13 1387 c.1315C>T c.(1315-1317)Ccg>Tcg p.P439S VPS16_ENST00000380469.3_Intron|VPS16_ENST00000380443.3_Missense_Mutation_p.P125S|VPS16_ENST00000481812.2_3'UTR NM_022575.2 NP_072097.2 Q9H269 VPS16_HUMAN vacuolar protein sorting 16 homolog (S. cerevisiae) 439 intracellular protein transport early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 37 CATCGGGATCCCGCTCACCTA 0.587000 36 115 0 0 1 0 0 SLIT1 6585 broad.mit.edu 37 10 98778794 98778794 + Silent SNP G G C TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr10:98778794G>C ENST00000266058.4 - 27 3062 c.2817C>G c.(2815-2817)acC>acG p.T939T ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.T939T NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 939 EGF-like 1. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) CGTTGTGGCAGGTGCCCTGGT 0.637000 13 20 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51695725 51695725 + Missense_Mutation SNP C C T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr6:51695725C>T ENST00000371117.3 - 52 8511 c.8236G>A c.(8236-8238)Gaa>Aaa p.E2746K PKHD1_ENST00000340994.4_Missense_Mutation_p.E2746K NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 2746 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CAGCCTTCTTCAACACCTTGC 0.418000 26 27 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155298473 155298473 + Missense_Mutation SNP C C A TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr4:155298473C>A ENST00000357232.4 - 3 357 c.358G>T c.(358-360)Gtt>Ttt p.V120F DCHS2_ENST00000339452.1_Missense_Mutation_p.V726F NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TCTTGAGAAACACAGATTTGC 0.418000 16 56 3.45872e-05 3.55825e-05 1 1 0 WNT9B 7484 broad.mit.edu 37 17 44953915 44953915 + Missense_Mutation SNP G G T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr17:44953915G>T ENST00000290015.2 + 4 958 c.905G>T c.(904-906)gGt>gTt p.G302V WNT9B_ENST00000393461.2_Splice_Site NM_003396.1 NP_003387.1 O14905 WNT9B_HUMAN wingless-type MMTV integration site family, member 9B 302 anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding large_intestine(2)|lung(8) 10 BRCA - Breast invasive adenocarcinoma(9;0.0257) GGCACAGCAGGTAGGGTGTGC 0.667000 27 61 4.22769e-11 4.41285e-11 1 1 0 CCDC113 29070 broad.mit.edu 37 16 58287958 58287958 + Silent SNP G G C TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr16:58287958G>C ENST00000219299.4 + 3 364 c.285G>C c.(283-285)ctG>ctC p.L95L CCDC113_ENST00000443128.2_Intron NM_014157.3 NP_054876.2 Q9H0I3 CC113_HUMAN coiled-coil domain containing 113 95 protein complex large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1) 12 GGGTAGGCCTGACTGCCGACC 0.517000 23 83 0 0 1 0 0 ZMYM2 7750 broad.mit.edu 37 13 20608481 20608481 + Missense_Mutation SNP G G A TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr13:20608481G>A ENST00000382869.3 + 11 2307 c.2056G>A c.(2056-2058)Gag>Aag p.E686K ZMYM2_ENST00000382874.2_Missense_Mutation_p.E686K|ZMYM2_ENST00000382871.2_Missense_Mutation_p.E686K|ZMYM2_ENST00000382883.3_Missense_Mutation_p.E168K NM_001190965.1|NM_003453.3|NM_197968.2 NP_001177894.1|NP_003444.1|NP_932072.1 Q9UBW7 ZMYM2_HUMAN zinc finger, MYM-type 2 686 regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body ubiquitin conjugating enzyme binding|zinc ion binding large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 10 all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856) ATACTGTCAAGAGGAGAAGAC 0.358000 26 48 0 0 1 0 0 QRICH2 84074 broad.mit.edu 37 17 74278099 74278099 + Missense_Mutation SNP G G T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr17:74278099G>T ENST00000262765.5 - 8 3790 c.3611C>A c.(3610-3612)cCt>cAt p.P1204H NM_032134.1 NP_115510.1 Q9H0J4 QRIC2_HUMAN glutamine rich 2 1204 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 GATCTGGCCAGGAGCCAAGGT 0.607000 8 9 0.00448238 0.00451395 1 1 0 KAT2B 8850 broad.mit.edu 37 3 20167474 20167474 + Silent SNP C C T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr3:20167474C>T ENST00000263754.4 + 10 1946 c.1491C>T c.(1489-1491)caC>caT p.H497H NM_003884.4 NP_003875.3 Q92831 KAT2B_HUMAN K(lysine) acetyltransferase 2B 497 cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 40 TTGAATTTCACGTGGTTGGCA 0.512000 15 33 0 0 1 0 0 MAPRE2 10982 broad.mit.edu 37 18 32712102 32712102 + Missense_Mutation SNP A A T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr18:32712102A>T ENST00000436190.2 + 7 1095 c.821A>T c.(820-822)aAt>aTt p.N274I MAPRE2_ENST00000589699.1_Missense_Mutation_p.N243I|MAPRE2_ENST00000300249.5_Missense_Mutation_p.N286I|MAPRE2_ENST00000413393.1_Missense_Mutation_p.N243I|MAPRE2_ENST00000538170.2_Missense_Mutation_p.N233I NM_001143827.2 NP_001137299.1 Q15555 MARE2_HUMAN microtubule-associated protein, RP/EB family, member 2 286 APC-binding.|DCTN1-binding.|EB1 C-terminal. cell division|cell proliferation|mitosis|signal transduction cytoplasm|microtubule microtubule binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1) 9 GGGCAGGAAAATGATGACCTC 0.453000 12 30 0 0 1 0 0 OPCML 4978 broad.mit.edu 37 11 132399010 132399010 + Missense_Mutation SNP A A C TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr11:132399010A>C ENST00000331898.7 - 3 1049 c.471T>G c.(469-471)tgT>tgG p.C157W OPCML_ENST00000541867.1_Missense_Mutation_p.C157W|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Missense_Mutation_p.C150W|OPCML_ENST00000374778.4_Missense_Mutation_p.C116W NM_002545.3 NP_002536.1 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion molecule-like 157 Ig-like C2-type 2. cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8) 47 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) CAATAGCAAGACACAGCAGGG 0.468000 11 30 0 0 1 0 0 OR4K5 79317 broad.mit.edu 37 14 20389178 20389178 + Missense_Mutation SNP G G A TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr14:20389178G>A ENST00000315915.4 + 1 438 c.413G>A c.(412-414)cGa>cAa p.R138Q NM_001005483.1 NP_001005483.1 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, member 5 138 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATCATGAGCCGAAGGACATGC 0.463000 41 291 0 0 1 0 0 CUX2 23316 broad.mit.edu 37 12 111748354 111748354 + Missense_Mutation SNP G G A TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr12:111748354G>A ENST00000261726.6 + 15 1922 c.1768G>A c.(1768-1770)Gag>Aag p.E590K NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 590 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 CTCGGTCAGCGAGATCCTAGC 0.592000 30 99 0 0 1 0 0 LRRN3 54674 broad.mit.edu 37 7 110764137 110764137 + Missense_Mutation SNP G G A TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr7:110764137G>A ENST00000451085.1 + 4 2355 c.1309G>A c.(1309-1311)Ggg>Agg p.G437R LRRN3_ENST00000308478.5_Missense_Mutation_p.G437R|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.G437R|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000450877.1_Intron NM_001099660.1 NP_001093130.1 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 437 Ig-like C2-type. integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) TGTAGAAGCTGGGAGCTATGT 0.438000 45 88 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196367710 196367710 + Missense_Mutation SNP A A T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr1:196367710A>T ENST00000367433.5 - 13 1378 c.1277T>A c.(1276-1278)tTt>tAt p.F426Y KCNT2_ENST00000294725.9_Missense_Mutation_p.F426Y|KCNT2_ENST00000367431.4_Missense_Mutation_p.F426Y|KCNT2_ENST00000451324.2_Missense_Mutation_p.F37Y|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.F426Y NM_198503.2 NP_940905.2 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 426 RCK N-terminal. voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 TTTGATGTGAAATTTATTTTC 0.363000 10 31 0 0 1 0 0 OR4D2 124538 broad.mit.edu 37 17 56247292 56247292 + Missense_Mutation SNP C C G TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr17:56247292C>G ENST00000545221.1 + 1 276 c.276C>G c.(274-276)atC>atG p.I92M NM_001004707.3 NP_001004707.1 P58180 OR4D2_HUMAN olfactory receptor, family 4, subfamily D, member 2 92 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1) 26 AGAAAACCATCTCTTACCAGG 0.502000 37 81 0 0 1 0 0 AC005609.1 0 broad.mit.edu 37 5 140242842 140242842 + Missense_Mutation SNP C C T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr5:140242842C>T ENST00000502505.1 - 1 382 c.134G>A c.(133-135)cGg>cAg p.R45Q PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA14_ENST00000562220.1_RNA|PCDHA10_ENST00000506939.2_Intron CGTCGAGGTCCGGGAGGCAGC 0.657000 25 25 0 0 1 0 0 GREB1 9687 broad.mit.edu 37 2 11758778 11758778 + Silent SNP C C T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr2:11758778C>T ENST00000381486.2 + 22 4077 c.3777C>T c.(3775-3777)gtC>gtT p.V1259V GREB1_ENST00000234142.5_Silent_p.V1259V|GREB1_ENST00000396123.1_Silent_p.V257V NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1259 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) CACCCATTGTCTTCTTGCCCA 0.672000 8 25 0 0 1 0 0 SFMBT2 57713 broad.mit.edu 37 10 7214540 7214540 + Missense_Mutation SNP T T A TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr10:7214540T>A ENST00000361972.4 - 18 2158 c.2068A>T c.(2068-2070)Agg>Tgg p.R690W SFMBT2_ENST00000397167.1_Missense_Mutation_p.R690W NM_001018039.1 NP_001018049.1 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 690 regulation of transcription, DNA-dependent nucleus NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 TTCCTCCGCCTGGCGGGTTTG 0.582000 10 30 0 0 1 0 0 CHD4 1108 broad.mit.edu 37 12 6691834 6691834 + Silent SNP A A G TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr12:6691834A>G ENST00000309577.6 - 28 4564 c.4401T>C c.(4399-4401)ttT>ttC p.F1467F CHD4_ENST00000357008.2_Silent_p.F1439F|CHD4_ENST00000544040.1_Silent_p.F1432F|CHD4_ENST00000544484.1_Silent_p.F1464F|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000540960.1_5'UTR Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1439 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 ACTGGGTAGTAAAAGCATCCT 0.468000 64 171 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51695724 51695724 + Missense_Mutation SNP T T A TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr6:51695724T>A ENST00000371117.3 - 52 8512 c.8237A>T c.(8236-8238)gAa>gTa p.E2746V PKHD1_ENST00000340994.4_Missense_Mutation_p.E2746V NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 2746 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CCAGCCTTCTTCAACACCTTG 0.418000 28 27 0 0 1 0 0 NPM3 10360 broad.mit.edu 37 10 103542338 103542338 + Missense_Mutation SNP C C G TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr10:103542338C>G ENST00000370110.5 - 3 243 c.221G>C c.(220-222)gGa>gCa p.G74A NPM3_ENST00000474993.1_5'UTR NM_006993.2 NP_008924.1 O75607 NPM3_HUMAN nucleophosmin/nucleoplasmin 3 74 nucleic acid binding large_intestine(3)|lung(1)|skin(1) 5 Colorectal(252;0.122) Epithelial(162;3.94e-09)|all cancers(201;2.13e-07) GTCTTTGGCTCCCTCGGTGAG 0.577000 5 25 0 0 1 0 0 GRIN2D 2906 broad.mit.edu 37 19 48908042 48908042 + Nonsense_Mutation SNP C C T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr19:48908042C>T ENST00000263269.3 + 3 605 c.517C>T c.(517-519)Cag>Tag p.Q173* NM_000836.2 NP_000827.2 O15399 NMDE4_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2D 173 cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1) 37 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) GCAACAGCTTCAGGTCATCTT 0.602000 69 143 0 0 1 0 0 CALCRL 10203 broad.mit.edu 37 2 188225373 188225373 + Missense_Mutation SNP C C T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr2:188225373C>T ENST00000409998.1 - 11 1514 c.733G>A c.(733-735)Gtg>Atg p.V245M CALCRL_ENST00000410068.1_Missense_Mutation_p.V245M|CALCRL_ENST00000392370.3_Missense_Mutation_p.V245M|AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA Q16602 CALRL_HUMAN calcitonin receptor-like 245 integral to plasma membrane endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) TCTGCAAACACGGCCACCACA 0.398000 17 64 0 0 1 0 0 LRRK2 120892 broad.mit.edu 37 12 40651079 40651079 + Missense_Mutation SNP G G A TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr12:40651079G>A ENST00000298910.7 + 12 1376 c.1318G>A c.(1318-1320)Gga>Aga p.G440R LRRK2_ENST00000343742.2_Missense_Mutation_p.G440R NM_198578.3 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 440 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) GTTATCAAAAGGAATACACCT 0.289000 13 95 0 0 1 0 0 DMRTA2 63950 broad.mit.edu 37 1 50884417 50884417 + Missense_Mutation SNP C C T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr1:50884417C>T ENST00000404795.3 - 3 1941 c.1549G>A c.(1549-1551)Gct>Act p.A517T DMRTA2_ENST00000418121.1_Missense_Mutation_p.A517T NM_032110.2 NP_115486.1 Q96SC8 DMTA2_HUMAN DMRT-like family A2 517 Ala-rich. sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity endometrium(1)|lung(4)|pancreas(1) 6 ACCGCCGCAGCAGCGGCGGCC 0.706000 4 7 0 0 1 0 0 RALYL 138046 broad.mit.edu 37 8 85799889 85799889 + Missense_Mutation SNP T T G TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr8:85799889T>G ENST00000521268.1 + 8 1841 c.736T>G c.(736-738)Tgt>Ggt p.C246G RALYL_ENST00000521695.1_Missense_Mutation_p.C246G|RALYL_ENST00000523850.1_Missense_Mutation_p.C173G|RALYL_ENST00000521376.1_Intron|RALYL_ENST00000518566.1_Missense_Mutation_p.C235G|RALYL_ENST00000522455.1_Missense_Mutation_p.C246G|RALYL_ENST00000517638.1_Missense_Mutation_p.C259G NM_173848.5 NP_776247.3 Q86SE5 RALYL_HUMAN RALY RNA binding protein-like 246 identical protein binding|nucleotide binding|RNA binding endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1) 24 CCAAGAGGAATGTGTGTCAGA 0.512000 22 93 0 0 1 0 0 OVCH1 341350 broad.mit.edu 37 12 29624842 29624842 + Silent SNP G G T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr12:29624842G>T ENST00000318184.5 - 16 1748 c.1749C>A c.(1747-1749)ccC>ccA p.P583P OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron NM_183378.2 NP_899234.2 Q7RTY7 OVCH1_HUMAN ovochymase 1 583 Peptidase S1 2. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3) 92 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) GCCAACAGTGGGGGCAGGCTT 0.542000 11 30 2.80697e-09 2.90868e-09 1 1 0 SOS1 6654 broad.mit.edu 37 2 39250176 39250176 + Missense_Mutation SNP C C G TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr2:39250176C>G ENST00000426016.1 - 11 1479 c.1393G>C c.(1393-1395)Gat>Cat p.D465H SOS1_ENST00000472480.1_5'UTR|SOS1_ENST00000395038.2_Missense_Mutation_p.D465H|SOS1_ENST00000402219.2_Missense_Mutation_p.D465H Q07889 SOS1_HUMAN son of sevenless homolog 1 (Drosophila) 465 PH. apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 75 all_hematologic(82;0.21) ATTAAGCCATCAAAGAGAAAT 0.378000 Noonan syndrome 33 62 0 0 1 0 0 TEDDM1 127670 broad.mit.edu 37 1 182369290 182369290 + Missense_Mutation SNP G G C TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr1:182369290G>C ENST00000367565.1 - 1 461 c.331C>G c.(331-333)Ctc>Gtc p.L111V NM_172000.3 NP_741997.3 Q5T9Z0 TEDM1_HUMAN transmembrane epididymal protein 1 111 integral to membrane haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2) 7 AGCAGCAGGAGCTCGTAGATG 0.502000 8 138 0 0 1 0 0 CD19 930 broad.mit.edu 37 16 28943334 28943334 + Missense_Mutation SNP C C T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr16:28943334C>T ENST00000538922.1 + 1 75 c.13C>T c.(13-15)Cgc>Tgc p.R5C CD19_ENST00000324662.3_Missense_Mutation_p.R5C|CD19_ENST00000567541.1_Missense_Mutation_p.R5C NM_001178098.1|NM_001770.5 NP_001171569.1|NP_001761.3 P15391 CD19_HUMAN CD19 molecule 5 cellular defense response external side of plasma membrane|integral to plasma membrane protein binding|receptor signaling protein activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1) 29 GCCACCTCCTCGCCTCCTCTT 0.622000 18 62 0 0 1 0 0 TPK1 27010 broad.mit.edu 37 7 144288604 144288604 + Missense_Mutation SNP G G C TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr7:144288604G>C ENST00000549981.1 - 9 785 c.62C>G c.(61-63)tCt>tGt p.S21C TPK1_ENST00000378099.3_Intron|TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000538212.2_Intron|TPK1_ENST00000360057.3_Missense_Mutation_p.S138C Q9H3S4 TPK1_HUMAN thiamin pyrophosphokinase 1 138 thiamine diphosphate biosynthetic process cytosol ATP binding|kinase activity|thiamine diphosphokinase activity large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2) 19 Thiamine(DB00152) GGTATTCACAGATGCCATAAT 0.453000 3 53 0 0 1 0 0 HSD3B2 3284 broad.mit.edu 37 1 119962125 119962125 + Missense_Mutation SNP C C T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr1:119962125C>T ENST00000543831.1 + 3 476 c.227C>T c.(226-228)tCg>tTg p.S76L HSD3B2_ENST00000471656.1_3'UTR|HSD3B2_ENST00000369416.3_Missense_Mutation_p.S76L NM_001166120.1 NP_001159592.1 P26439 3BHS2_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 76 androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity p.S76L(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1) 27 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836) NADH(DB00157)|Trilostane(DB01108) CAGGACGTCTCGGTCGTCATC 0.502000 19 42 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37027150 37027150 + Missense_Mutation SNP C C T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chrX:37027150C>T ENST00000358047.3 + 1 719 c.667C>T c.(667-669)Cgc>Tgc p.R223C NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 223 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GTCCCATCTCCGCCCACAGCC 0.657000 44 32 0 0 1 0 0 LRRC18 474354 broad.mit.edu 37 10 50121796 50121796 + Silent SNP G G A rs143092104 byFrequency TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr10:50121796G>A ENST00000374160.3 - 1 481 c.405C>T c.(403-405)agC>agT p.S135S RP11-523O18.7_ENST00000430438.1_RNA|WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron|LRRC18_ENST00000298124.3_Silent_p.S135S NM_001006939.3 NP_001006940.3 Q8N456 LRC18_HUMAN leucine rich repeat containing 18 135 cytoplasm NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 TGGTGGGCACGCTGTCCAGGT 0.602000 10 30 0 0 1 0 0 MAP9 79884 broad.mit.edu 37 4 156281423 156281423 + Missense_Mutation SNP T T A TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr4:156281423T>A ENST00000311277.4 - 7 1210 c.947A>T c.(946-948)aAg>aTg p.K316M AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000609254.1_RNA|AC097467.2_ENST00000598890.1_RNA|AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000600928.1_RNA|AC097467.2_ENST00000608406.1_RNA|AC097467.2_ENST00000594492.1_RNA|AC097467.2_ENST00000594666.1_RNA|AC097467.2_ENST00000597831.1_RNA|AC097467.2_ENST00000596165.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.K292M|AC097467.2_ENST00000596754.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000608762.1_RNA NM_001039580.1 NP_001034669.1 Q49MG5 MAP9_HUMAN microtubule-associated protein 9 316 cell division|mitosis cytoplasm|microtubule|spindle NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.143) CGCTTTTGCCTTTTCTTCTTC 0.383000 20 64 0 0 1 0 0 SLC28A1 9154 broad.mit.edu 37 15 85452005 85452005 + Silent SNP C C G TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr15:85452005C>G ENST00000394573.1 + 9 976 c.774C>G c.(772-774)gtC>gtG p.V258V SLC28A1_ENST00000538177.1_Silent_p.V258V|SLC28A1_ENST00000286749.3_Silent_p.V258V|SLC28A1_ENST00000537703.1_Silent_p.V180V|SLC28A1_ENST00000537624.1_Silent_p.V258V|SLC28A1_ENST00000537216.1_Silent_p.V258V NM_004213.3 NP_004204.3 O00337 S28A1_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 1 258 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(143;0.0587) AGGCGCTGGTCAAGGATGTCT 0.547000 6 42 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125094608 125094608 + Missense_Mutation SNP G G A TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr8:125094608G>A ENST00000522917.1 + 33 4506 c.4300G>A c.(4300-4302)Gat>Aat p.D1434N FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.D1434N NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1434 C2 5. integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) GATTGGCACAGATGACCTTAT 0.493000 55 170 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117768176 117768176 + Missense_Mutation SNP C C A TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr12:117768176C>A ENST00000317775.6 - 2 1384 c.699G>T c.(697-699)atG>atT p.M233I NOS1_ENST00000338101.4_Missense_Mutation_p.M233I|NOS1_ENST00000344089.3_Missense_Mutation_p.M233I NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 233 PIN (nNOS-inhibiting protein) binding. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding p.M233I(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) CCATATCTTTCATCTCTGCCT 0.547000 19 78 2.35188e-11 2.47293e-11 1 1 0 KIAA2026 158358 broad.mit.edu 37 9 5968523 5968523 + Missense_Mutation SNP C C T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr9:5968523C>T ENST00000399933.3 - 3 1707 c.1708G>A c.(1708-1710)Gaa>Aaa p.E570K KIAA2026_ENST00000381461.2_Missense_Mutation_p.E570K NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 570 breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) ATTCTAATTTCATAGTTGGAT 0.363000 34 34 0 0 1 0 0 ARHGEF2 9181 broad.mit.edu 37 1 155920635 155920635 + Missense_Mutation SNP A A T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr1:155920635A>T ENST00000462460.2 - 24 3077 c.2823T>A c.(2821-2823)agT>agA p.S941R ARHGEF2_ENST00000313695.7_Missense_Mutation_p.S868R|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.S868R|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.S897R|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.S895R|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.S896R|ARHGEF2_ENST00000477754.2_Intron Q92974 ARHG2_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 2 actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2) 40 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) GGGGGTTGAAACTCAAGTACA 0.637000 42 82 0 0 1 0 0 HIPK4 147746 broad.mit.edu 37 19 40895605 40895605 + Missense_Mutation SNP C C G TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr19:40895605C>G ENST00000291823.2 - 1 489 c.205G>C c.(205-207)Gag>Cag p.E69Q NM_144685.3 NP_653286.2 Q8NE63 HIPK4_HUMAN homeodomain interacting protein kinase 4 69 Protein kinase. cytoplasm ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 20 Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292) ACGTGGGCCTCTTCAGGGTCT 0.537000 8 163 0 0 1 0 0 GABRB3 2562 broad.mit.edu 37 15 26793250 26793250 + Missense_Mutation SNP G G A TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr15:26793250G>A ENST00000541819.2 - 10 1382 c.1280C>T c.(1279-1281)tCg>tTg p.S427L GABRB3_ENST00000311550.5_Missense_Mutation_p.S371L|GABRB3_ENST00000299267.4_Missense_Mutation_p.S371L|GABRB3_ENST00000545868.1_Missense_Mutation_p.S286L|GABRB3_ENST00000400188.3_Missense_Mutation_p.S300L P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 3 371 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) AACTTCCAGCGATGTCAACAG 0.453000 4 117 0 0 1 0 0 ACAT1 38 broad.mit.edu 37 11 108005886 108005886 + Missense_Mutation SNP C C G TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr11:108005886C>G ENST00000265838.4 + 5 443 c.352C>G c.(352-354)Cca>Gca p.P118A ACAT1_ENST00000299355.6_Missense_Mutation_p.P118A NM_000019.3 NP_000010.1 P24752 THIL_HUMAN acetyl-CoA acetyltransferase 1 118 acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process mitochondrial matrix acetyl-CoA C-acetyltransferase activity|metal ion binding endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2) 10 all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192) Sulfasalazine(DB00795) TATTTCTACTCCATGTACCAC 0.378000 26 72 0 0 1 0 0 IPO13 9670 broad.mit.edu 37 1 44432419 44432419 + Missense_Mutation SNP G G A TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr1:44432419G>A ENST00000372343.3 + 17 3150 c.2488G>A c.(2488-2490)Gag>Aag p.E830K IPO13_ENST00000372339.3_Missense_Mutation_p.E48K NM_014652.3 NP_055467.3 O94829 IPO13_HUMAN importin 13 830 protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) CAAGTTCCCTGAGGCACCTAC 0.607000 10 56 0 0 1 0 0 GPATCH1 55094 broad.mit.edu 37 19 33588685 33588685 + Missense_Mutation SNP G G C TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr19:33588685G>C ENST00000170564.2 + 8 1191 c.877G>C c.(877-879)Gag>Cag p.E293Q NM_018025.2 NP_060495.2 Q9BRR8 GPTC1_HUMAN G patch domain containing 1 293 catalytic step 2 spliceosome nucleic acid binding breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4) 40 Esophageal squamous(110;0.137) TGCCCTGGAAGAGGAAGATGA 0.458000 41 94 0 0 1 0 0 GALR2 8811 broad.mit.edu 37 17 74071066 74071066 + Silent SNP C C T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr17:74071066C>T ENST00000329003.3 + 1 192 c.102C>T c.(100-102)ctC>ctT p.L34L NM_003857.2 NP_003848.1 O43603 GALR2_HUMAN galanin receptor 2 34 digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction integral to membrane|plasma membrane galanin receptor activity cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 TCTTCGCGCTCATCTTCCTCG 0.706000 8 16 0 0 1 0 0 WNT9B 7484 broad.mit.edu 37 17 44952649 44952649 + Silent SNP C C T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr17:44952649C>T ENST00000393461.2 + 3 570 c.517C>T c.(517-519)Ctg>Ttg p.L173L WNT9B_ENST00000290015.2_Silent_p.L173L O14905 WNT9B_HUMAN wingless-type MMTV integration site family, member 9B 173 anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding large_intestine(2)|lung(8) 10 BRCA - Breast invasive adenocarcinoma(9;0.0257) CACCAAGTTTCTGAGCAACTT 0.622000 10 22 0 0 1 0 0 PTPRS 5802 broad.mit.edu 37 19 5212433 5212433 + Missense_Mutation SNP C C T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr19:5212433C>T ENST00000372412.4 - 31 4920 c.4687G>A c.(4687-4689)Gaa>Aaa p.E1563K PTPRS_ENST00000587303.1_Missense_Mutation_p.E1562K|PTPRS_ENST00000262963.6_Missense_Mutation_p.E1542K|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000353284.2_Missense_Mutation_p.E1115K|PTPRS_ENST00000348075.2_Missense_Mutation_p.E1524K|PTPRS_ENST00000588012.1_Missense_Mutation_p.E1524K|PTPRS_ENST00000357368.4_Missense_Mutation_p.E1562K|PTPRS_ENST00000592099.1_Missense_Mutation_p.E1115K Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 1562 Tyrosine-protein phosphatase 1. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) GTTGGGTATTCGGGCACGCCA 0.622000 7 10 0 0 1 0 0 XKR7 343702 broad.mit.edu 37 20 30556185 30556185 + Silent SNP C C T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr20:30556185C>T ENST00000562532.2 + 1 381 c.207C>T c.(205-207)tcC>tcT p.S69S NM_001011718.1 NP_001011718.1 Q5GH72 XKR7_HUMAN XK, Kell blood group complex subunit-related family, member 7 integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) TGTTCTTCTCCGACGGTGCCA 0.706000 4 94 0 0 1 0 0 CYP4B1 1580 broad.mit.edu 37 1 47276490 47276491 + Frame_Shift_Ins INS - - G TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr1:47276490_47276491insG ENST00000271153.4 + 2 227_228 c.191_192insG c.(190-195)acggggfs p.TG64fs CYP4B1_ENST00000546128.1_3'UTR|CYP4B1_ENST00000371923.4_Frame_Shift_Ins_p.TG64fs|CYP4B1_ENST00000371919.4_Frame_Shift_Ins_p.TG64fs P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, polypeptide 1 64 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) ATCCAGGAGACGGGGAGCCTGG 0.579 20 62 --- --- --- --- SRGAP2-AS1 100873165 broad.mit.edu 37 1 121137698 121137699 + RNA INS - - TT rs57730437 TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr1:121137698_121137699insTT ENST00000437515.1 - 0 329 NR_104189.1 CTACTTACATCTTTTTGTCTTT 0.441 9 41 --- --- --- --- THSD7B 80731 broad.mit.edu 37 2 137928475 137928475 + Frame_Shift_Del DEL C C - TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr2:137928475delC ENST00000409968.1 + 7 1868 c.1690delC c.(1690-1692)cgtfs p.R564fs THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000272643.3_Frame_Shift_Del_p.R564fs|THSD7B_ENST00000413152.2_Frame_Shift_Del_p.R533fs thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CCTGGGACATCGTATTCTGAA 0.502 19 35 --- --- --- --- NIPAL1 152519 broad.mit.edu 37 4 48037608 48037619 + In_Frame_Del DEL GTGATCTCCTTG GTGATCTCCTTG - TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr4:48037608_48037619delGTGATCTCCTTG ENST00000295461.5 + 6 718_729 c.652_663delGTGATCTCCTTG c.(652-663)gtgatctccttgdel p.VISL218del NIPAL1_ENST00000508180.1_3'UTR NM_207330.1 NP_997213.1 Q6NVV3 NIPA3_HUMAN NIPA-like domain containing 1 218 integral to membrane p.S220S(1) endometrium(2)|large_intestine(1)|lung(3)|skin(2) 8 GATCATAACTGTGATCTCCTTGGTGCTGATTT 0.363 23 125 --- --- --- --- CDKN1A 1026 broad.mit.edu 37 6 36652067 36652067 + Frame_Shift_Del DEL C C - rs4986867 byFrequency TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr6:36652067delC ENST00000405375.1 + 2 424 c.189delC c.(187-189)ttcfs p.F63fs CDKN1A_ENST00000373711.2_Frame_Shift_Del_p.F63fs|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000448526.2_Frame_Shift_Del_p.F97fs|CDKN1A_ENST00000244741.5_Frame_Shift_Del_p.F63fs NM_001220778.1 NP_001207707.1 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A (p21, Cip1) 63 F -> L (in dbSNP:rs4986867). cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5) 15 AGGGTGACTTCGCCTGGGAGC 0.672 17 38 --- --- --- --- GPR19 2842 broad.mit.edu 37 12 12814274 12814274 + Frame_Shift_Del DEL T T - TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr12:12814274delT ENST00000540510.1 - 2 1301 c.1109delA c.(1108-1110)aacfs p.N370fs GPR19_ENST00000332427.2_Frame_Shift_Del_p.N370fs Q15760 GPR19_HUMAN G protein-coupled receptor 19 370 integral to plasma membrane G-protein coupled receptor activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 17 Prostate(47;0.0802) BRCA - Breast invasive adenocarcinoma(232;0.048) GCCAACGTAGTTTTTTTTGGC 0.398 7 245 --- --- --- --- TMTC3 160418 broad.mit.edu 37 12 88584241 88584242 + Frame_Shift_Ins INS - - A TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr12:88584241_88584242insA ENST00000266712.6 + 12 1768_1769 c.1548_1549insA c.(1549-1551)aaafs p.K517fs NM_181783.3 NP_861448.2 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat containing 3 517 integral to membrane binding NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1) 31 TTATTCCTGGTAAAAAATATGC 0.347 22 82 --- --- --- --- FRG1B 284802 broad.mit.edu 37 20 29628226 29628226 + Splice_Site DEL G G - rs78710112 by1000genomes TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr20:29628226delG ENST00000278882.3 + 6 608 c.e6-1 FRG1B_ENST00000358464.4_Splice_Site|FRG1B_ENST00000439954.2_Splice_Site endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTTTCACTTAGGGGAAAATGG 0.358 12 138 --- --- --- --- KRTAP10-7 386675 broad.mit.edu 37 21 46020656 46020670 + In_Frame_Del DEL CTGCTGCGCCCCCAG CTGCTGCGCCCCCAG - rs36208679 TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbaa26d9-b88b-4fa3-8bbc-28ebab5f90b6 a06ba712-79fb-4338-a707-cc1f490cc7c3 g.chr21:46020656_46020670delCTGCTGCGCCCCCAG ENST00000380102.2 + 1 160_174 c.135_149delCTGCTGCGCCCCCAG c.(133-150)ccctgctgcgcccccagc>ccc p.CCAPS46del TSPEAR_ENST00000323084.4_Intron NM_198689.2 NP_941962.1 P60409 KR107_HUMAN keratin associated protein 10-7 46 30 X 5 AA repeats of C-C-X(3). keratin filament p.S50_P54delSCCAP(1) breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 GCGAGCCCCCCTGCTGCGCCCCCAGCTGCTGCGCC 0.698 9 23 --- --- --- ---