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 EBI3 10148 broad.mit.edu 37 19 4234672 4234672 + Missense_Mutation SNP G G T TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr19:4234672G>T uc002lzu.3 + 3 396 c.388G>T c.(388-390)Gac>Tac p.D130Y NM_005755 NP_005746 Q14213 IL27B_HUMAN Homo sapiens Epstein-Barr virus induced 3 (EBI3), mRNA. 130 Fibronectin type-III 2. T-helper 1 type immune response|humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process extracellular space|plasma membrane cytokine activity|cytokine receptor activity large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1) 5 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18) AGTCAAGCCCGACCCTCCAGA 0.547000 8 274 0 0 1 0 0 CDH13 1012 broad.mit.edu 37 16 83520201 83520201 + Missense_Mutation SNP A A G TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr16:83520201A>G uc010vns.2 + 7 1306 c.1042A>G c.(1042-1044)Atc>Gtc p.I348V CDH13_uc002fgx.3_Missense_Mutation_p.I301V|CDH13_uc010vnt.2_Missense_Mutation_p.I47V|CDH13_uc010vnu.2_Missense_Mutation_p.I262V NM_001220488 NP_001207417 P55290 CAD13_HUMAN Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA. 301 Cadherin 2. Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) CATGTTCTACATCGATCCTGA 0.493000 4 135 0 0 1 0 0 TMEM89 440955 broad.mit.edu 37 3 48658391 48658391 + Missense_Mutation SNP G G A TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr3:48658391G>A uc011bbo.2 - 1 364 c.364C>T c.(364-366)Ctc>Ttc p.L122F NM_001008269 NP_001008270 A2RUT3 TMM89_HUMAN Homo sapiens transmembrane protein 89 (TMEM89), mRNA. 122 integral to membrane breast(1)|lung(1)|stomach(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) ACCCCACGGAGCAGGGTGTGG 0.612000 3 118 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1094843 1094843 + Silent SNP C C T rs41417150 by1000genomes TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr11:1094843C>T uc001lsx.1 + 32 5946 c.5919C>T c.(5917-5919)aaC>aaT p.N1973N NM_002457 NP_002448 Q02817 MUC2_HUMAN Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA. 2029 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) GTGTCCTGAACGACACCTACT 0.617000 6 352 0 0 1 0 0 STUB1 10273 broad.mit.edu 37 16 732365 732365 + Splice_Site SNP G G A TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr16:732365G>A uc002cit.3 + 7 1198 c.787_splice c.e7-1 p.R263_splice STUB1_uc002ciu.3_Splice_Site_p.R191_splice|JMJD8_uc002ciw.1_3'UTR|JMJD8_uc002ciy.1_3'UTR NM_005861 NP_005852 Q9UNE7 CHIP_HUMAN Homo sapiens STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase (STUB1), mRNA. 263 U-box. DNA repair|cellular response to misfolded protein|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein autoubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex Hsp70 protein binding|Hsp90 protein binding|SMAD binding|TPR domain binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|ubiquitin-ubiquitin ligase activity endometrium(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 6 Hepatocellular(780;0.00335) TCACTGCAGCGTGTGGGTCAT 0.617000 5 156 0 0 1 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178541107 178541107 + Missense_Mutation SNP G G A TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr5:178541107G>A uc003mjw.3 - 21 3499 c.3397C>T c.(3397-3399)Cgg>Tgg p.R1133W NM_014244 NP_055059 O95450 ATS2_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA. 1133 collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.R1133Q(1) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) GGTGATGGCCGCACCTCCATG 0.587000 4 183 0 0 1 0 0 CTNND1 1500 broad.mit.edu 37 11 57573460 57573460 + Missense_Mutation SNP A A C TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr11:57573460A>C uc001nmc.4 + 9 2400 c.1829A>C c.(1828-1830)aAt>aCt p.N610T CTNND1_uc001nlf.2_Missense_Mutation_p.N610T|CTNND1_uc021qjk.1_Missense_Mutation_p.N610T|CTNND1_uc001nlh.1_Missense_Mutation_p.N610T|CTNND1_uc001nlj.4_Missense_Mutation_p.N556T|CTNND1_uc001nlq.4_Missense_Mutation_p.N509T|CTNND1_uc001nlr.4_Missense_Mutation_p.N556T|CTNND1_uc001nln.4_Missense_Mutation_p.N610T|CTNND1_uc001nli.4_Missense_Mutation_p.N610T|CTNND1_uc001nlo.4_Missense_Mutation_p.N509T|CTNND1_uc001nlp.4_Missense_Mutation_p.N556T|CTNND1_uc001nlu.4_Missense_Mutation_p.N509T|CTNND1_uc001nlt.4_Missense_Mutation_p.N509T|CTNND1_uc001nlv.4_Missense_Mutation_p.N509T|CTNND1_uc001nls.4_Missense_Mutation_p.N509T|CTNND1_uc001nlw.4_Missense_Mutation_p.N509T|CTNND1_uc001nmf.4_Missense_Mutation_p.N610T|CTNND1_uc001nlx.4_Missense_Mutation_p.N287T|CTNND1_uc001nlz.4_Missense_Mutation_p.N287T|CTNND1_uc009ymn.3_Missense_Mutation_p.N287T|CTNND1_uc001nly.4_Missense_Mutation_p.N287T|CTNND1_uc001nmb.4_Missense_Mutation_p.N287T|CTNND1_uc001nma.4_Missense_Mutation_p.N287T|CTNND1_uc001nmd.4_Missense_Mutation_p.N556T|CTNND1_uc001nlk.4_Missense_Mutation_p.N556T|CTNND1_uc001nme.4_Missense_Mutation_p.N610T|CTNND1_uc001nll.4_Missense_Mutation_p.N556T|CTNND1_uc001nlm.4_Missense_Mutation_p.N610T|CTNND1_uc001nmi.4_Missense_Mutation_p.N509T|CTNND1_uc001nmg.4_Missense_Mutation_p.N556T|CTNND1_uc001nmh.4_Missense_Mutation_p.N610T NM_001085458 NP_001078932 O60716 CTND1_HUMAN Homo sapiens catenin (cadherin-associated protein), delta 1 (CTNND1), transcript variant 1, mRNA. 610 Wnt receptor signaling pathway|adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2) 45 all_epithelial(135;0.155) GTTGCCAACAATACTGGGCCA 0.498000 3 29 0 0 1 0 0 DGCR8 54487 broad.mit.edu 37 22 20079439 20079439 + Missense_Mutation SNP G G A TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr22:20079439G>A uc002zri.3 + 6 1981 c.1552G>A c.(1552-1554)Gag>Aag p.E518K DGCR8_uc010grz.3_Missense_Mutation_p.E518K|DGCR8_uc002zrj.3_Missense_Mutation_p.E161K NM_022720 NP_073557 Q8WYQ5 DGCR8_HUMAN Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), transcript variant 1, mRNA. 518 DRBM 1.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA. primary miRNA processing cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 Colorectal(54;0.0993) CATCCTGCACGAGTACATGCA 0.463000 32 31 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9090831 9090831 + Silent SNP A A G TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr19:9090831A>G uc002mkp.3 - 0 1188 c.984T>C c.(982-984)ccT>ccC p.P328P NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 328 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCATGGAAAAAGGGATAGCTG 0.522000 3 98 0 0 1 0 0 RTN2 6253 broad.mit.edu 37 19 45996575 45996575 + Missense_Mutation SNP A A C TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr19:45996575A>C uc002pcb.3 - 4 1106 c.876T>G c.(874-876)atT>atG p.I292M RTN2_uc002pcc.3_Intron|RTN2_uc002pcd.3_Intron NM_005619 NP_005610 O75298 RTN2_HUMAN Homo sapiens reticulon 2 (RTN2), transcript variant 1, mRNA. 292 integral to endoplasmic reticulum membrane signal transducer activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1) 20 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246) ACAATTCCAAAATTGGAACCG 0.502000 3 155 0 0 1 0 0 GPR116 221395 broad.mit.edu 37 6 46849818 46849818 + Silent SNP T T C TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr6:46849818T>C uc003oyo.3 - 6 928 c.639A>G c.(637-639)ccA>ccG p.P213P GPR116_uc003oyp.3_Silent_p.P213P|GPR116_uc003oyq.3_Silent_p.P213P|GPR116_uc010jzi.1_5'Flank|GPR116_uc003oyr.2_Silent_p.P213P NM_001098518 NP_056049 Q8IZF2 GP116_HUMAN Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA. 213 SEA. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) CCTTGAAGCCTGGTAAAATTC 0.378000 4 346 0 0 1 0 0 CYB5R2 51700 broad.mit.edu 37 11 7687683 7687683 + Splice_Site SNP A A C TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr11:7687683A>C uc001mfm.3 - 8 896 c.658_splice c.e8+1 p.G220_splice CYB5R2_uc001mfn.3_Splice_Site|CYB5R2_uc009yfk.3_Splice_Site_p.G220_splice NM_016229 NP_057313 Q6BCY4 NB5R2_HUMAN Homo sapiens cytochrome b5 reductase 2 (CYB5R2), mRNA. 220 sterol biosynthetic process membrane|soluble fraction cytochrome-b5 reductase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1) 11 Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) ATGTCGTACCAATGGGAGGCC 0.493000 OREG0020724 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 77 0 0 1 0 0 TRDV3 28516 broad.mit.edu 37 14 22938320 22938320 + Silent SNP A A G TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr14:22938320A>G uc001web.1 - 1 106 c.54T>C c.(52-54)tgT>tgC p.C18C TCRA_uc001wbw.2_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron|TRAV38-2DV8_uc010tmr.2_Intron|AK093552_uc001wds.1_Intron|TCRA_uc001wdv.4_Intron SubName: Full=HDV103S1; Flags: Fragment; TTACTTTGTCACACAGCGTGC 0.502000 20 17 0 0 1 0 0 COL20A1 57642 broad.mit.edu 37 20 61956821 61956821 + Missense_Mutation SNP G G A TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr20:61956821G>A uc011aau.2 + 27 3423 c.3323G>A c.(3322-3324)gGa>gAa p.G1108E COL20A1_uc011aav.2_Missense_Mutation_p.G929E NM_020882 NP_065933 Q9P218 COKA1_HUMAN Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA. 1108 Collagen-like 1. cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) GGAGAGAAGGGAGACCATGGG 0.667000 5 122 0 0 1 0 0 ZIC3 7547 broad.mit.edu 37 X 136649433 136649433 + Missense_Mutation SNP C C T TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chrX:136649433C>T uc004fak.3 + 0 1088 c.583C>T c.(583-585)Cgt>Tgt p.R195C NM_003413 NP_003404 O60481 ZIC3_HUMAN Homo sapiens Zic family member 3 (ZIC3), mRNA. 195 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) GCTGTTCGGCCGTGCTGACCC 0.672000 4 112 0 0 1 0 0 OR2M2 391194 broad.mit.edu 37 1 248344320 248344320 + Missense_Mutation SNP T T C TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr1:248344320T>C uc010pzf.2 + 0 1033 c.1033T>C c.(1033-1035)Tac>Cac p.Y345H NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA. 345 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) ATTGATTATGTACATTGCCTA 0.264000 4 146 0 0 1 0 0 KIF14 9928 broad.mit.edu 37 1 200539119 200539119 + Missense_Mutation SNP A A T TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr1:200539119A>T uc010ppk.1 - 22 4020 c.3581T>A c.(3580-3582)aTg>aAg p.M1194K KIF14_uc010ppj.1_Missense_Mutation_p.M703K NM_014875 NP_055690 Q15058 KIF14_HUMAN Homo sapiens kinesin family member 14 (KIF14), mRNA. 1194 Required for CIT-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 61 TCTGTTCTTCATCAAACTCCT 0.289000 41 84 0 0 1 0 0 STS 412 broad.mit.edu 37 X 7177465 7177465 + Missense_Mutation SNP A A G TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chrX:7177465A>G uc004cry.4 + 4 718 c.473A>G c.(472-474)tAt>tGt p.Y158C NM_000351 NP_000342 P08842 STS_HUMAN Homo sapiens steroid sulfatase (microsomal), isozyme S (STS), mRNA. 158 female pregnancy|steroid catabolic process Golgi apparatus|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome|microsome|plasma membrane metal ion binding|steryl-sulfatase activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1) 27 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) Estrone(DB00655) GGCTTCAATTATTTCTATGGG 0.522000 Ichthyosis 3 138 0 0 1 0 0 TDRD1 56165 broad.mit.edu 37 10 115978234 115978234 + Silent SNP A A G TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr10:115978234A>G uc001lbg.1 + 17 2538 c.2385A>G c.(2383-2385)gtA>gtG p.V795V TDRD1_uc001lbf.3_Intron|TDRD1_uc001lbh.1_Silent_p.V786V|TDRD1_uc001lbi.1_Silent_p.V786V|TDRD1_uc010qsc.2_Silent_p.V399V|TDRD1_uc001lbj.3_Silent_p.V504V NM_198795 NP_942090 Q9BXT4 TDRD1_HUMAN Homo sapiens tudor domain containing 1 (TDRD1), mRNA. 795 Tudor 3. DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5) 48 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) ATGTTAAAGTACATTTTGTGG 0.383000 6 199 0 0 1 0 0 IK 3550 broad.mit.edu 37 5 140032663 140032663 + Missense_Mutation SNP A A T TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr5:140032663A>T uc003lgq.3 + 4 448 c.338A>T c.(337-339)gAt>gTt p.D113V IK_uc011czk.1_Missense_Mutation_p.D113V|IK_uc021yen.1_Missense_Mutation_p.D54V NM_006083 NP_006074 Q13123 RED_HUMAN Homo sapiens IK cytokine, down-regulator of HLA II (IK), mRNA. 113 cell-cell signaling|immune response extracellular space|nucleus|soluble fraction large_intestine(1) 1 all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGAACAAAGATTATGAAGAA 0.502000 34 80 0 0 1 0 0 OR2L1P 26247 broad.mit.edu 37 1 248154046 248154046 + Silent SNP G G T TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr1:248154046G>T uc001idv.1 + 0 478 c.234G>T c.(232-234)acG>acT p.T78T OR2L13_uc001ids.3_Intron Homo sapiens olfactory receptor, family 2, subfamily L, member 1 pseudogene (OR2L1P), non-coding RNA. lung(11) 11 GTGCTCACACGGTATATGCAC 0.468000 4 135 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139890069 139890069 + Silent SNP G G A TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr8:139890069G>A uc003yvd.3 - 2 1029 c.582C>T c.(580-582)tcC>tcT p.S194S NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA. 194 VWFA. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) AGACGTGGGCGGACTTGGGCT 0.672000 HNSCC(7;0.00092) 3 85 0 0 1 0 0 PDPR 55066 broad.mit.edu 37 16 70187304 70187304 + Missense_Mutation SNP A A T TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr16:70187304A>T uc002eyf.1 + 17 3020 c.2063A>T c.(2062-2064)cAt>cTt p.H688L CLEC18A_uc002exy.3_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.H588L|PDPR_uc002eyg.1_Intron|PDPR_uc002eyh.2_Missense_Mutation_p.H33L|PDPR_uc010vls.1_Missense_Mutation_p.H33L NM_017990 NP_060460 Q8NCN5 PDPR_HUMAN Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit (PDPR), mRNA. 688 glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix aminomethyltransferase activity|oxidoreductase activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3) 33 BRCA - Breast invasive adenocarcinoma(221;0.124) TACGCCCTGCATGTATACAAT 0.448000 10 47 0 0 1 0 0 CPE 1363 broad.mit.edu 37 4 166416761 166416761 + Missense_Mutation SNP A A G TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr4:166416761A>G uc003irg.4 + 7 1541 c.1264A>G c.(1264-1266)Aca>Gca p.T422A NM_001873 NP_001864 P16870 CBPE_HUMAN Homo sapiens carboxypeptidase E (CPE), mRNA. 422 cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process extracellular region|nucleus|plasma membrane metallocarboxypeptidase activity|protein binding|zinc ion binding endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 26 all_hematologic(180;0.221) Prostate(90;0.0962)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.137) Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CTATAAACTTACAGCCTCAGC 0.408000 10 181 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256530 115256530 + Missense_Mutation SNP G G T rs121913254 TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr1:115256530G>T uc009wgu.3 - 2 435 c.181C>A c.(181-183)Caa>Aaa p.Q61K NM_002524 NP_002515 P01111 RASN_HUMAN Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA. 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TACTCTTCTTGTCCAGCTGTA 0.458000 Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 90 204 0 0 1 0 0