#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
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	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
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	ENST00000221847.5	+	4	441	c.388G>T	c.(388-390)Gac>Tac	p.D130Y		NM_005755.2	NP_005746.2	Q14213	IL27B_HUMAN	Epstein-Barr virus induced 3	130	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|humoral immune response (GO:0006959)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|T-helper 1 type immune response (GO:0042088)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)			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	0.547																																						uc002lzu.3																			0				large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5						c.(388-390)Gac>Tac		Homo sapiens Epstein-Barr virus induced 3 (EBI3), mRNA.							85.0	95.0	91.0					19																	4234672		2203	4300	6503	SO:0001583	missense	10148				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	g.chr19:4234672G>T	L08187	CCDS12123.1	19p13	2013-02-11	2008-09-12		ENSG00000105246	ENSG00000105246		"""Fibronectin type III domain containing"""	3129	protein-coding gene	gene with protein product	"""IL27 subunit"", ""IL35 subunit"""	605816				8551575	Standard	NM_005755		Approved		uc002lzu.3	Q14213		ENST00000221847.5:c.388G>T	19.37:g.4234672G>T	ENSP00000221847:p.Asp130Tyr		Somatic					p.D130Y	NM_005755	NP_005746	WXS	Illumina GAIIx	Phase_I	Q14213	IL27B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)	3	396	+		Hepatocellular(1079;0.137)	130			Fibronectin type-III 2.		A0N0N2|O75269	Missense_Mutation	SNP	ENST00000221847.5	37	c.388G>T	CCDS12123.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.080001	0.55753	.	.	ENSG00000105246	ENST00000221847	T	0.58940	0.3	4.17	4.17	0.49024	Long hematopoietin receptor, soluble alpha chain, conserved site (1);Fibronectin, type III (5);Immunoglobulin-like fold (1);	0.116139	0.56097	D	0.000031	T	0.74779	0.3761	M	0.81802	2.56	0.46044	D	0.998831	D	0.89917	1.0	D	0.79108	0.992	T	0.78607	-0.2138	10	0.87932	D	0	-27.3491	11.9055	0.52708	0.0:0.0:1.0:0.0	.	130	Q14213	IL27B_HUMAN	Y	130	ENSP00000221847:D130Y	ENSP00000221847:D130Y	D	+	1	0	EBI3	4185672	0.998000	0.40836	0.935000	0.37517	0.634000	0.38068	3.379000	0.52440	2.178000	0.69098	0.555000	0.69702	GAC		0.547	EBI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458005.1			8	274	0	0	0	1	0	8	274				
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	ENST00000566620.1	+	7	1191	c.901A>G	c.(901-903)Atc>Gtc	p.I301V	CDH13_ENST00000428848.3_Missense_Mutation_p.I262V|CDH13_ENST00000268613.10_Missense_Mutation_p.I348V|CDH13_ENST00000569454.1_3'UTR	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	301	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CATGTTCTACATCGATCCTGA	0.493																																						uc010vns.2																			0				large_intestine(1)	1						c.(1042-1044)Atc>Gtc		Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.							98.0	96.0	97.0					16																	83520201		2061	4219	6280	SO:0001583	missense	1012				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	g.chr16:83520201A>G	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.901A>G	16.37:g.83520201A>G	ENSP00000454435:p.Ile301Val		Somatic				CDH13_uc002fgx.3_Missense_Mutation_p.I301V|CDH13_uc010vnt.2_Missense_Mutation_p.I47V|CDH13_uc010vnu.2_Missense_Mutation_p.I262V	p.I348V	NM_001220488	NP_001207417	WXS	Illumina GAIIx	Phase_I	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)	7	1306	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	301			Cadherin 2.		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	ENST00000566620.1	37	c.1042A>G	CCDS58486.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.535009	0.85812	.	.	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143	T	0.66638	-0.22	5.79	5.79	0.91817	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.78792	0.4339	M	0.66297	2.02	0.80722	D	1	D;P;D	0.57571	0.965;0.492;0.98	D;P;D	0.74348	0.957;0.897;0.983	T	0.75300	-0.3366	9	0.21014	T	0.42	.	15.3166	0.74085	1.0:0.0:0.0:0.0	.	262;348;301	B7Z590;B7Z9B1;P55290	.;.;CAD13_HUMAN	V	348;301;262	ENSP00000268613:I348V	ENSP00000268613:I348V	I	+	1	0	CDH13	82077702	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.565000	0.90730	2.207000	0.71202	0.533000	0.62120	ATC		0.493	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		4	135	0	0	0	1	0	4	135				
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	ENST00000330862.3	-	2	462	c.364C>T	c.(364-366)Ctc>Ttc	p.L122F		NM_001008269.1	NP_001008270.1	A2RUT3	TMM89_HUMAN	transmembrane protein 89	122						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				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	0.612																																						uc011bbo.2																			0				breast(1)|lung(1)|stomach(1)	3						c.(364-366)Ctc>Ttc		Homo sapiens transmembrane protein 89 (TMEM89), mRNA.							89.0	75.0	80.0					3																	48658391		2203	4300	6503	SO:0001583	missense	440955					integral to membrane		g.chr3:48658391G>A	AX657016	CCDS33751.1	3p21.31	2005-11-02			ENSG00000183396	ENSG00000183396			32372	protein-coding gene	gene with protein product							Standard	NM_001008269		Approved		uc011bbo.2	A2RUT3	OTTHUMG00000156647	ENST00000330862.3:c.364C>T	3.37:g.48658391G>A	ENSP00000329557:p.Leu122Phe		Somatic					p.L122F	NM_001008269	NP_001008270	WXS	Illumina GAIIx	Phase_I	A2RUT3	TMM89_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	1	364	-			122						Missense_Mutation	SNP	ENST00000330862.3	37	c.364C>T	CCDS33751.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.976502	0.53720	.	.	ENSG00000183396	ENST00000330862	T	0.53206	0.63	4.83	1.93	0.25924	.	0.426079	0.17466	N	0.173268	T	0.51770	0.1694	L	0.42245	1.32	0.09310	N	1	D	0.63046	0.992	P	0.59487	0.858	T	0.39396	-0.9616	10	0.62326	D	0.03	-11.7667	8.0254	0.30434	0.0:0.3446:0.4898:0.1656	.	122	A2RUT3	TMM89_HUMAN	F	122	ENSP00000329557:L122F	ENSP00000329557:L122F	L	-	1	0	TMEM89	48633395	0.355000	0.24921	0.005000	0.12908	0.008000	0.06430	0.586000	0.23894	0.204000	0.20548	0.563000	0.77884	CTC		0.612	TMEM89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345046.1	NM_001008269		3	118	0	0	0	1	0	3	118				
MUC2	4583	broad.mit.edu	37	11	1094843	1094843	+	Silent	SNP	C	C	T	rs41417150		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	ENST00000441003.2	+	31	5958	c.5931C>T	c.(5929-5931)aaC>aaT	p.N1977N	MUC2_ENST00000361558.6_Silent_p.N115N|MUC2_ENST00000333592.6_Silent_p.N265N	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4339					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				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	0.617																																						uc001lsx.1																			0				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						c.(5917-5919)aaC>aaT		Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	Pranlukast(DB01411)	C		0,4254		0,0,2127	176.0	190.0	185.0		5916	-0.4	0.2	11	dbSNP_127	185	3,8483		0,3,4240	no	coding-synonymous	MUC2	NM_002457.2		0,3,6367	TT,TC,CC		0.0354,0.0,0.0235		1972/2813	1094843	3,12737	2127	4243	6370	SO:0001819	synonymous_variant	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1094843C>T	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5931C>T	11.37:g.1094843C>T			Somatic					p.N1973N	NM_002457	NP_002448	WXS	Illumina GAIIx	Phase_I	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	32	5946	+		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)	2029					Q14878	Silent	SNP	ENST00000441003.2	37	c.5919C>T																																																																																					0.617	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		6	352	0	0	0	1	0	6	352				
JMJD8	339123	broad.mit.edu	37	16	732365	732365	+	3'UTR	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	ENST00000293882.4	-	0	1433				STUB1_ENST00000565677.1_Splice_Site_p.R191H|JMJD8_ENST00000454700.1_3'UTR|JMJD8_ENST00000609261.1_3'UTR|LA16c-313D11.9_ENST00000567091.1_RNA|LA16c-313D11.9_ENST00000571933.1_RNA|STUB1_ENST00000219548.4_Splice_Site_p.R263H|JMJD8_ENST00000412368.2_3'UTR|STUB1_ENST00000564370.1_Splice_Site_p.R191H			Q96S16	JMJD8_HUMAN	jumonji domain containing 8							extracellular vesicular exosome (GO:0070062)				breast(1)	1						TCACTGCAGCGTGTGGGTCAT	0.617																																						uc002cit.3																			0				endometrium(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	6						c.e7-1		Homo sapiens STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase (STUB1), mRNA.							82.0	75.0	77.0					16																	732365		2201	4300	6501	SO:0001624	3_prime_UTR_variant	10273				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	g.chr16:732365G>A		CCDS45369.1	16p13.3	2008-07-28	2008-07-28	2008-07-28		ENSG00000161999			14148	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 20"""	C16orf20			Standard	NM_001005920		Approved		uc002ciw.1	Q96S16		ENST00000293882.4:c.*429C>T	16.37:g.732365G>A			Somatic				STUB1_uc002ciu.3_Splice_Site_p.R191_splice|JMJD8_uc002ciw.1_3'UTR|JMJD8_uc002ciy.1_3'UTR	p.R263_splice	NM_005861	NP_005852	WXS	Illumina GAIIx	Phase_I	Q9UNE7	CHIP_HUMAN			7	1198	+		Hepatocellular(780;0.00335)	263			U-box.		B2RNS7|D3DU58|Q4PKE3|Q4VBY1|Q6GMW5|Q71RB8	Splice_Site	SNP	ENST00000293882.4	37	c.787_splice		.	.	.	.	.	.	.	.	.	.	G	16.24	3.066264	0.55539	.	.	ENSG00000103266	ENST00000219548	T	0.15952	2.38	5.18	4.22	0.49857	Zinc finger, RING/FYVE/PHD-type (1);U box domain (2);	0.068719	0.64402	D	0.000009	T	0.34745	0.0908	L	0.52823	1.66	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.02837	-1.1104	10	0.41790	T	0.15	-10.62	12.7883	0.57518	0.0793:0.0:0.9207:0.0	.	263	Q9UNE7	CHIP_HUMAN	H	263	ENSP00000219548:R263H	ENSP00000219548:R263H	R	+	2	0	STUB1	672366	1.000000	0.71417	0.992000	0.48379	0.051000	0.14879	9.780000	0.99024	1.179000	0.42884	0.561000	0.74099	CGT		0.617	JMJD8-201	KNOWN	basic	protein_coding	protein_coding		NM_001005920		5	156	0	0	0	1	0	5	156				
ADAMTS2	9509	broad.mit.edu	37	5	178541107	178541107	+	Missense_Mutation	SNP	G	G	A	rs545409845		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	ENST00000251582.7	-	22	3498	c.3397C>T	c.(3397-3399)Cgg>Tgg	p.R1133W		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1133					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			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	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		18045	0.001		0.0	False		,,,				2504	0.0					uc003mjw.3																			0		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						c.(3397-3399)Cgg>Tgg		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.							176.0	153.0	161.0					5																	178541107		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178541107G>A	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.3397C>T	5.37:g.178541107G>A	ENSP00000251582:p.Arg1133Trp		Somatic					p.R1133W	NM_014244	NP_055059	WXS	Illumina GAIIx	Phase_I	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	21	3499	-	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)	1133						Missense_Mutation	SNP	ENST00000251582.7	37	c.3397C>T	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	G	7.367	0.625949	0.14257	.	.	ENSG00000087116	ENST00000251582	T	0.59906	0.23	5.05	3.23	0.37069	.	0.828579	0.10123	N	0.713134	T	0.29389	0.0732	N	0.08118	0	0.09310	N	1	P	0.35107	0.484	B	0.14023	0.01	T	0.12142	-1.0559	10	0.49607	T	0.09	.	4.5817	0.12262	0.2605:0.1681:0.5714:0.0	.	1133	O95450	ATS2_HUMAN	W	1133	ENSP00000251582:R1133W	ENSP00000251582:R1133W	R	-	1	2	ADAMTS2	178473713	0.002000	0.14202	0.001000	0.08648	0.025000	0.11179	1.318000	0.33643	0.481000	0.27557	0.561000	0.74099	CGG		0.587	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		4	183	0	0	0	1	0	4	183				
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	ENST00000399050.4	+	10	2365	c.1829A>C	c.(1828-1830)aAt>aCt	p.N610T	CTNND1_ENST00000524630.1_Missense_Mutation_p.N610T|CTNND1_ENST00000532245.1_Missense_Mutation_p.N509T|CTNND1_ENST00000528232.1_Missense_Mutation_p.N509T|CTNND1_ENST00000534579.1_Missense_Mutation_p.N556T|CTNND1_ENST00000529986.1_Missense_Mutation_p.N509T|CTNND1_ENST00000529919.1_Missense_Mutation_p.N610T|CTNND1_ENST00000426142.2_Missense_Mutation_p.N509T|CTNND1_ENST00000525902.1_Missense_Mutation_p.N287T|CTNND1_ENST00000532787.1_Missense_Mutation_p.N509T|CTNND1_ENST00000526938.1_Missense_Mutation_p.N610T|CTNND1_ENST00000526357.1_Missense_Mutation_p.N556T|CTNND1_ENST00000530094.1_Missense_Mutation_p.N509T|CTNND1_ENST00000415361.2_Missense_Mutation_p.N509T|CTNND1_ENST00000526772.1_Missense_Mutation_p.N287T|CTNND1_ENST00000428599.2_Missense_Mutation_p.N610T|CTNND1_ENST00000399039.4_Missense_Mutation_p.N610T|CTNND1_ENST00000529873.1_Missense_Mutation_p.N556T|CTNND1_ENST00000358694.6_Missense_Mutation_p.N610T|CTNND1_ENST00000360682.6_Missense_Mutation_p.N610T|CTNND1_ENST00000532649.1_Missense_Mutation_p.N556T|CTNND1_ENST00000532844.1_Missense_Mutation_p.N556T|CTNND1_ENST00000361332.4_Missense_Mutation_p.N610T|CTNND1_ENST00000528621.1_Missense_Mutation_p.N556T|CTNND1_ENST00000532463.1_Missense_Mutation_p.N509T|CTNND1_ENST00000527467.1_Missense_Mutation_p.N287T|CTNND1_ENST00000361391.6_Missense_Mutation_p.N610T|CTNND1_ENST00000529526.1_Missense_Mutation_p.N556T|CTNND1_ENST00000361796.4_Missense_Mutation_p.N610T|CTNND1_ENST00000531014.1_Missense_Mutation_p.N287T|CTNND1_ENST00000530748.1_Missense_Mutation_p.N556T|CTNND1_ENST00000533667.1_Missense_Mutation_p.N287T	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	610					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			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	0.498																																						uc001nmc.4																			0				breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45						c.(1828-1830)aAt>aCt		Homo sapiens catenin (cadherin-associated protein), delta 1 (CTNND1), transcript variant 1, mRNA.							90.0	87.0	88.0					11																	57573460		1942	4138	6080	SO:0001583	missense	1500				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	g.chr11:57573460A>C	AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.1829A>C	11.37:g.57573460A>C	ENSP00000382004:p.Asn610Thr		Somatic				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	p.N610T	NM_001085458	NP_001078932	WXS	Illumina GAIIx	Phase_I	O60716	CTND1_HUMAN			9	2400	+		all_epithelial(135;0.155)	610					A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	ENST00000399050.4	37	c.1829A>C	CCDS44604.1	.	.	.	.	.	.	.	.	.	.	A	17.13	3.311886	0.60414	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000533667;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000527467;ENST00000528232;ENST00000531014;ENST00000526772;ENST00000529873;ENST00000525902;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94	5.91	0.811	0.18739	Armadillo-like helical (1);Armadillo-type fold (1);	0.355141	0.36972	N	0.002306	T	0.68348	0.2991	L	0.31926	0.97	0.29982	N	0.81765	D;D;D;P;P;P;P;P;D	0.56521	0.976;0.976;0.958;0.774;0.667;0.774;0.73;0.774;0.958	P;P;P;B;B;B;B;B;P	0.51615	0.675;0.675;0.475;0.299;0.209;0.299;0.284;0.299;0.475	T	0.66689	-0.5860	10	0.48119	T	0.1	-0.1875	9.5278	0.39175	0.6212:0.0:0.3788:0.0	.	610;610;610;509;556;556;610;610;610	O60716-3;O60716-2;O60716;O60716-18;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.;.;.;.	T	610;610;610;610;610;556;509;610;610;610;509;509;610;509;287;556;556;556;610;287;509;287;287;556;287;556;556;509;509;509;556;610	ENSP00000436543:N610T;ENSP00000434808:N610T;ENSP00000381996:N610T;ENSP00000353902:N610T;ENSP00000354907:N610T;ENSP00000436323:N556T;ENSP00000409930:N509T;ENSP00000382004:N610T;ENSP00000354785:N610T;ENSP00000354823:N610T;ENSP00000432075:N509T;ENSP00000437156:N509T;ENSP00000351527:N610T;ENSP00000434949:N509T;ENSP00000437051:N287T;ENSP00000435379:N556T;ENSP00000432243:N556T;ENSP00000436744:N556T;ENSP00000413586:N610T;ENSP00000434900:N287T;ENSP00000435266:N509T;ENSP00000432623:N287T;ENSP00000433158:N287T;ENSP00000435494:N556T;ENSP00000434672:N287T;ENSP00000433276:N556T;ENSP00000433334:N556T;ENSP00000437327:N509T;ENSP00000403518:N509T;ENSP00000434017:N509T;ENSP00000435789:N556T;ENSP00000432041:N610T	ENSP00000351527:N610T	N	+	2	0	CTNND1	57330036	0.098000	0.21812	0.997000	0.53966	0.992000	0.81027	0.494000	0.22467	-0.097000	0.12307	0.533000	0.62120	AAT		0.498	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331		3	29	0	0	0	1	0	3	29				
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	ENST00000351989.3	+	7	1981	c.1552G>A	c.(1552-1554)Gag>Aag	p.E518K	DGCR8_ENST00000407755.1_Missense_Mutation_p.E518K|DGCR8_ENST00000383024.2_Missense_Mutation_p.E518K	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	518	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					CATCCTGCACGAGTACATGCA	0.463																																						uc002zri.3																			0				NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1552-1554)Gag>Aag		Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), transcript variant 1, mRNA.							128.0	114.0	119.0					22																	20079439		2203	4300	6503	SO:0001583	missense	54487				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20079439G>A	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.1552G>A	22.37:g.20079439G>A	ENSP00000263209:p.Glu518Lys		Somatic				DGCR8_uc010grz.3_Missense_Mutation_p.E518K|DGCR8_uc002zrj.3_Missense_Mutation_p.E161K	p.E518K	NM_022720	NP_073557	WXS	Illumina GAIIx	Phase_I	Q8WYQ5	DGCR8_HUMAN			6	1981	+	Colorectal(54;0.0993)		518			DRBM 1.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	37	c.1552G>A	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	G	35	5.425213	0.96131	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	D;T;T	0.82344	-1.6;-0.79;-0.79	5.1	4.05	0.47172	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.91123	0.7205	M	0.85099	2.735	0.80722	D	1	B;D	0.89917	0.189;1.0	B;D	0.91635	0.046;0.999	D	0.92124	0.5706	10	0.87932	D	0	-23.0849	13.8046	0.63223	0.0768:0.0:0.9232:0.0	.	518;518	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	K	518	ENSP00000263209:E518K;ENSP00000372488:E518K;ENSP00000384726:E518K	ENSP00000263209:E518K	E	+	1	0	DGCR8	18459439	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.642000	0.83385	2.634000	0.89283	0.591000	0.81541	GAG		0.463	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			32	31	0	0	0	1	0	32	31				
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	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				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	0.522																																						uc002mkp.3																			0				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						c.(982-984)ccT>ccC		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							96.0	95.0	96.0					19																	9090831		2041	4195	6236	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090831A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.984T>C	19.37:g.9090831A>G			Somatic					p.P328P	NM_024690	NP_078966	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			0	1188	-			328			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.984T>C	CCDS54212.1																																																																																				0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		3	98	0	0	0	1	0	3	98				
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	ENST00000245923.4	-	5	1111	c.876T>G	c.(874-876)atT>atG	p.I292M	RTN2_ENST00000590526.1_Missense_Mutation_p.I18M|RTN2_ENST00000430715.2_5'Flank|RTN2_ENST00000344680.4_Intron|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000589384.1_5'Flank	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	292					cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)				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	0.502																																						uc002pcb.3																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20						c.(874-876)atT>atG		Homo sapiens reticulon 2 (RTN2), transcript variant 1, mRNA.							53.0	56.0	55.0					19																	45996575		2203	4300	6503	SO:0001583	missense	6253					integral to endoplasmic reticulum membrane	signal transducer activity	g.chr19:45996575A>C	AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"""NSP-like protein 1"", ""Neuroendocrine-specific protein-like 1"""	603183	"""spastic paraplegia 12 (autosomal dominant)"""	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.876T>G	19.37:g.45996575A>C	ENSP00000245923:p.Ile292Met		Somatic				RTN2_uc002pcc.3_Intron|RTN2_uc002pcd.3_Intron	p.I292M	NM_005619	NP_005610	WXS	Illumina GAIIx	Phase_I	O75298	RTN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)	4	1106	-		Ovarian(192;0.051)|all_neural(266;0.112)	292					O60509|Q7RTM6|Q7RTN1|Q7RTN2	Missense_Mutation	SNP	ENST00000245923.4	37	c.876T>G	CCDS12665.1	.	.	.	.	.	.	.	.	.	.	A	9.795	1.178987	0.21787	.	.	ENSG00000125744	ENST00000245923	T	0.49139	0.79	4.42	2.35	0.29111	.	1.301390	0.05745	N	0.602129	T	0.28863	0.0716	N	0.08118	0	0.18873	N	0.999985	B	0.22003	0.063	B	0.21917	0.037	T	0.26326	-1.0106	10	0.48119	T	0.1	2.3463	5.7463	0.18122	0.7888:0.0:0.2112:0.0	.	292	O75298	RTN2_HUMAN	M	292	ENSP00000245923:I292M	ENSP00000245923:I292M	I	-	3	3	RTN2	50688415	0.184000	0.23200	0.007000	0.13788	0.889000	0.51656	1.970000	0.40520	0.482000	0.27582	0.383000	0.25322	ATT		0.502	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	NM_005619		3	155	0	0	0	1	0	3	155				
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	ENST00000283296.7	-	7	927	c.639A>G	c.(637-639)ccA>ccG	p.P213P	GPR116_ENST00000265417.7_Silent_p.P213P|GPR116_ENST00000456426.2_Silent_p.P213P|GPR116_ENST00000362015.4_Silent_p.P213P	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	213	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			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	0.378																																					NSCLC(59;410 1274 8751 36715 50546)	uc003oyo.3																			0				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						c.(637-639)ccA>ccG		Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.							151.0	161.0	157.0					6																	46849818		2203	4300	6503	SO:0001819	synonymous_variant	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46849818T>C	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.639A>G	6.37:g.46849818T>C			Somatic				GPR116_uc003oyp.3_Silent_p.P213P|GPR116_uc003oyq.3_Silent_p.P213P|GPR116_uc010jzi.1_5'Flank|GPR116_uc003oyr.2_Silent_p.P213P	p.P213P	NM_001098518	NP_056049	WXS	Illumina GAIIx	Phase_I	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		6	928	-			213			SEA.		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Silent	SNP	ENST00000283296.7	37	c.639A>G	CCDS4919.1																																																																																				0.378	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		4	346	0	0	0	1	0	4	346				
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	ENST00000533558.1	-	8	1213	c.657T>G	c.(655-657)atT>atG	p.I219M	CYB5R2_ENST00000524790.1_Splice_Site_p.I219M|CYB5R2_ENST00000528585.1_Intron|CYB5R2_ENST00000299498.6_Splice_Site_p.I219M|CYB5R2_ENST00000299497.9_Splice_Site_p.I219M			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	219					oxidation-reduction process (GO:0055114)|sterol biosynthetic process (GO:0016126)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			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	0.493											OREG0020724	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001mfm.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						c.e8+1		Homo sapiens cytochrome b5 reductase 2 (CYB5R2), mRNA.							159.0	131.0	140.0					11																	7687683		2201	4296	6497	SO:0001630	splice_region_variant	51700				sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity	g.chr11:7687683A>C	AF169802	CCDS7780.1	11p15.4	2014-08-12			ENSG00000166394	ENSG00000166394	1.6.2.2		24376	protein-coding gene	gene with protein product		608342				10611283	Standard	XM_005252973		Approved		uc001mfm.3	Q6BCY4	OTTHUMG00000165665	ENST00000533558.1:c.658+1T>G	11.37:g.7687683A>C			Somatic	OREG0020724	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	643	CYB5R2_uc001mfn.3_Splice_Site|CYB5R2_uc009yfk.3_Splice_Site_p.G220_splice	p.G220_splice	NM_016229	NP_057313	WXS	Illumina GAIIx	Phase_I	Q6BCY4	NB5R2_HUMAN		Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	8	896	-			220					Q9BVA3|Q9UF68|Q9UHJ0	Splice_Site	SNP	ENST00000533558.1	37	c.658_splice	CCDS7780.1	.	.	.	.	.	.	.	.	.	.	A	8.672	0.903019	0.17760	.	.	ENSG00000166394	ENST00000524790;ENST00000299498;ENST00000533558;ENST00000299497	D;D;D;D	0.94650	-3.48;-2.12;-2.12;-3.48	5.8	2.01	0.26516	Oxidoreductase FAD/NAD(P)-binding (1);	1.916140	0.02613	N	0.102343	D	0.86674	0.5989	N	0.08118	0	0.24401	N	0.994701	B	0.24368	0.102	B	0.19946	0.027	T	0.78033	-0.2362	10	0.72032	D	0.01	-0.1615	1.5636	0.02600	0.4965:0.1502:0.0833:0.27	.	219	Q6BCY4	NB5R2_HUMAN	M	219	ENSP00000435916:I219M;ENSP00000299498:I219M;ENSP00000437041:I219M;ENSP00000299497:I219M	ENSP00000299497:I219M	I	-	3	3	CYB5R2	7644259	0.001000	0.12720	0.523000	0.27875	0.053000	0.15095	-0.132000	0.10467	0.449000	0.26747	0.533000	0.62120	ATT		0.493	CYB5R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385679.1	NM_016229	Missense_Mutation	14	77	0	0	0	1	0	14	77				
TRDV3	28516	broad.mit.edu	37	14	22938320	22938320	+	RNA	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	ENST00000535880.2	-	0	137				AE000661.37_ENST00000514473.2_RNA|AE000661.37_ENST00000556777.1_RNA					T cell receptor delta variable 3																		TTACTTTGTCACACAGCGTGC	0.502																																						uc001web.1																			0											c.(52-54)tgT>tgC		SubName: Full=HDV103S1; Flags: Fragment;							22.0	25.0	24.0					14																	22938320		1940	4133	6073			28516							g.chr14:22938320A>G	M23326		14q11.2	2012-02-07			ENSG00000256590	ENSG00000256590		"""T cell receptors / TRD locus"""	12264	other	T cell receptor gene						2974163	Standard	NG_001332		Approved	hDV103S1			OTTHUMG00000168896		14.37:g.22938320A>G			Somatic				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	p.C18C			WXS	Illumina GAIIx	Phase_I					1	106	-									Silent	SNP	ENST00000535880.2	37	c.54T>C																																																																																					0.502	TRDV3-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401536.2	NG_001332		20	17	0	0	0	1	0	20	17				
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	ENST00000358894.6	+	28	3423	c.3323G>A	c.(3322-3324)gGa>gAa	p.G1108E	COL20A1_ENST00000422202.1_Missense_Mutation_p.G1115E|COL20A1_ENST00000326996.6_Missense_Mutation_p.G1140E|COL20A1_ENST00000435874.1_Missense_Mutation_p.G1115E	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1108	Collagen-like 1.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				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	0.667																																						uc011aau.2																			0				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36						c.(3322-3324)gGa>gAa		Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.							49.0	57.0	54.0					20																	61956821		1890	4120	6010	SO:0001583	missense	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61956821G>A	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.3323G>A	20.37:g.61956821G>A	ENSP00000351767:p.Gly1108Glu		Somatic				COL20A1_uc011aav.2_Missense_Mutation_p.G929E	p.G1108E	NM_020882	NP_065933	WXS	Illumina GAIIx	Phase_I	Q9P218	COKA1_HUMAN			27	3423	+	all_cancers(38;1.39e-10)		1108			Collagen-like 1.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	ENST00000358894.6	37	c.3323G>A	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.375536	0.42105	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202;ENST00000415763;ENST00000455906	D;D;D;D;D;D	0.99619	-6.28;-6.0;-6.28;-6.28;-6.28;-5.77	3.66	3.66	0.41972	.	0.000000	0.85682	U	0.000000	D	0.99743	0.9898	H	0.97783	4.075	0.47407	D	0.999418	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97427	1.0013	10	0.87932	D	0	.	10.8729	0.46894	0.0:0.0:1.0:0.0	.	1115;1108	Q9P218-2;Q9P218	.;COKA1_HUMAN	E	1108;1140;1115;1115;243;98	ENSP00000351767:G1108E;ENSP00000323077:G1140E;ENSP00000408690:G1115E;ENSP00000414753:G1115E;ENSP00000410799:G243E;ENSP00000406345:G98E	ENSP00000323077:G1140E	G	+	2	0	COL20A1	61427266	0.992000	0.36948	1.000000	0.80357	0.306000	0.27790	2.736000	0.47385	1.608000	0.50180	0.467000	0.42956	GGA		0.667	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		5	122	0	0	0	1	0	5	122				
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	ENST00000287538.5	+	1	1133	c.583C>T	c.(583-585)Cgt>Tgt	p.R195C	RP1-137H15.2_ENST00000442841.1_RNA|ZIC3_ENST00000370606.3_Missense_Mutation_p.R195C	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	195					anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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	0.672																																						uc004fak.3																			0				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						c.(583-585)Cgt>Tgt		Homo sapiens Zic family member 3 (ZIC3), mRNA.							25.0	27.0	26.0					X																	136649433		2183	4239	6422	SO:0001583	missense	7547				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	g.chrX:136649433C>T	AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"""Zinc fingers, C2H2-type"""	12874	protein-coding gene	gene with protein product		300265	"""heterotaxy 1"", ""Zic family member 3 (odd-paired homolog, Drosophila)"""	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.583C>T	X.37:g.136649433C>T	ENSP00000287538:p.Arg195Cys		Somatic					p.R195C	NM_003413	NP_003404	WXS	Illumina GAIIx	Phase_I	O60481	ZIC3_HUMAN			0	1088	+	Acute lymphoblastic leukemia(192;0.000127)		195					B2CNW4|Q14DE5|Q5JY75	Missense_Mutation	SNP	ENST00000287538.5	37	c.583C>T	CCDS14663.1	.	.	.	.	.	.	.	.	.	.	c	19.08	3.757102	0.69648	.	.	ENSG00000156925	ENST00000287538;ENST00000370606	T;T	0.60548	0.18;0.18	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.75228	0.3821	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.78553	-0.2160	10	0.62326	D	0.03	.	15.2367	0.73436	0.0:1.0:0.0:0.0	.	195	O60481	ZIC3_HUMAN	C	195	ENSP00000287538:R195C;ENSP00000359638:R195C	ENSP00000287538:R195C	R	+	1	0	ZIC3	136477099	0.992000	0.36948	0.988000	0.46212	0.990000	0.78478	3.104000	0.50306	2.155000	0.67459	0.597000	0.82753	CGT		0.672	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1			4	112	0	0	0	1	0	4	112				
KIF14	9928	broad.mit.edu	37	1	200539119	200539119	+	Missense_Mutation	SNP	A	A	T	rs369078617		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	ENST00000367350.4	-	23	4019	c.3581T>A	c.(3580-3582)aTg>aAg	p.M1194K		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1194	Required for CIT-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			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	0.289																																						uc010ppk.1																			0				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						c.(3580-3582)aTg>aAg		Homo sapiens kinesin family member 14 (KIF14), mRNA.							113.0	116.0	115.0					1																	200539119		2203	4300	6503	SO:0001583	missense	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200539119A>T	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.3581T>A	1.37:g.200539119A>T	ENSP00000356319:p.Met1194Lys		Somatic				KIF14_uc010ppj.1_Missense_Mutation_p.M703K	p.M1194K	NM_014875	NP_055690	WXS	Illumina GAIIx	Phase_I	Q15058	KIF14_HUMAN			22	4020	-			1194			Required for CIT-binding.		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	c.3581T>A	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	A	15.68	2.905213	0.52333	.	.	ENSG00000118193	ENST00000367350	T	0.15834	2.39	5.68	4.55	0.56014	.	0.053961	0.85682	D	0.000000	T	0.16085	0.0387	M	0.62723	1.935	0.36834	D	0.887056	P	0.44816	0.844	B	0.36666	0.23	T	0.12553	-1.0543	10	0.45353	T	0.12	.	8.1761	0.31283	0.7955:0.1345:0.07:0.0	.	1194	Q15058	KIF14_HUMAN	K	1194	ENSP00000356319:M1194K	ENSP00000356319:M1194K	M	-	2	0	KIF14	198805742	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.511000	0.60462	0.973000	0.38340	0.482000	0.46254	ATG		0.289	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		41	84	0	0	0	1	0	41	84				
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	ENST00000359682.2	+	1	1033	c.1033T>C	c.(1033-1035)Tac>Cac	p.Y345H		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	345						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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	0.264																																						uc010pzf.2																			0				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						c.(1033-1035)Tac>Cac		Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.							115.0	124.0	121.0					1																	248344320		2203	4300	6503	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248344320T>C	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.1033T>C	1.37:g.248344320T>C	ENSP00000352710:p.Tyr345His		Somatic					p.Y345H	NM_001004688	NP_001004688	WXS	Illumina GAIIx	Phase_I	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		0	1033	+	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)		345					A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.1033T>C	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	t	4.930	0.172848	0.09391	.	.	ENSG00000198601	ENST00000359682	T	0.20463	2.07	2.77	0.0442	0.14224	.	.	.	.	.	T	0.09247	0.0228	N	0.14661	0.345	0.09310	N	1	B	0.32876	0.388	B	0.25987	0.065	T	0.25779	-1.0122	9	0.87932	D	0	.	2.3813	0.04355	0.2399:0.1535:0.0:0.6066	.	345	Q96R28	OR2M2_HUMAN	H	345	ENSP00000352710:Y345H	ENSP00000352710:Y345H	Y	+	1	0	OR2M2	246410943	.	.	0.001000	0.08648	0.002000	0.02628	.	.	0.175000	0.19841	-0.933000	0.02702	TAC		0.264	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		4	146	0	0	0	1	0	4	146				
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	ENST00000217961.4	+	5	693	c.473A>G	c.(472-474)tAt>tGt	p.Y158C		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	158					cellular protein metabolic process (GO:0044267)|epidermis development (GO:0008544)|female pregnancy (GO:0007565)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|steroid catabolic process (GO:0006706)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|steryl-sulfatase activity (GO:0004773)|sulfuric ester hydrolase activity (GO:0008484)			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)			Norelgestromin(DB06713)	GGCTTCAATTATTTCTATGGG	0.522									Ichthyosis																													uc004cry.4																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27						c.(472-474)tAt>tGt		Homo sapiens steroid sulfatase (microsomal), isozyme S (STS), mRNA.	Estrone(DB00655)						125.0	104.0	111.0					X																	7177465		2203	4299	6502	SO:0001583	missense	412	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	female pregnancy|steroid catabolic process	Golgi apparatus|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity	g.chrX:7177465A>G	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	3.1.6.2	"""Arylsulfatase family"""	11425	protein-coding gene	gene with protein product	"""arylsulfatase C"""	300747	"""steroid sulfatase (microsomal), arylsulfatase C, isozyme S"""	ARSC1			Standard	NM_000351		Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.473A>G	X.37:g.7177465A>G	ENSP00000217961:p.Tyr158Cys		Somatic					p.Y158C	NM_000351	NP_000342	WXS	Illumina GAIIx	Phase_I	P08842	STS_HUMAN			4	718	+		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)	158					B2RA47	Missense_Mutation	SNP	ENST00000217961.4	37	c.473A>G	CCDS14127.1	.	.	.	.	.	.	.	.	.	.	A	10.78	1.447726	0.26074	.	.	ENSG00000101846	ENST00000217961	D	0.98732	-5.1	3.83	3.83	0.44106	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.420420	0.26478	N	0.024160	D	0.99342	0.9769	H	0.96604	3.85	0.45490	D	0.998455	D	0.89917	1.0	D	0.81914	0.995	D	0.98839	1.0754	10	0.72032	D	0.01	.	10.9776	0.47475	1.0:0.0:0.0:0.0	.	158	P08842	STS_HUMAN	C	158	ENSP00000217961:Y158C	ENSP00000217961:Y158C	Y	+	2	0	STS	7187465	1.000000	0.71417	0.003000	0.11579	0.003000	0.03518	6.208000	0.72165	1.242000	0.43836	0.486000	0.48141	TAT		0.522	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055686.1	NM_000351		3	138	0	0	0	1	0	3	138				
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	ENST00000369280.1	+	18	2845	c.2385A>G	c.(2383-2385)gtA>gtG	p.V795V	TDRD1_ENST00000422662.1_Silent_p.V399V|TDRD1_ENST00000369282.1_Silent_p.V795V|TDRD1_ENST00000251864.2_Silent_p.V795V|TDRD1_ENST00000369281.2_Intron			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	795	Tudor 3. {ECO:0000255|PROSITE- ProRule:PRU00211}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			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	0.383																																						uc001lbg.1																			0				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						c.(2383-2385)gtA>gtG		Homo sapiens tudor domain containing 1 (TDRD1), mRNA.							205.0	186.0	192.0					10																	115978234		2203	4300	6503	SO:0001819	synonymous_variant	56165				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	g.chr10:115978234A>G	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.2385A>G	10.37:g.115978234A>G			Somatic				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	p.V795V	NM_198795	NP_942090	WXS	Illumina GAIIx	Phase_I	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	17	2538	+		Colorectal(252;0.172)|Breast(234;0.188)	795			Tudor 3.		A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Silent	SNP	ENST00000369280.1	37	c.2385A>G																																																																																					0.383	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			6	199	0	0	0	1	0	6	199				
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	ENST00000417647.2	+	5	477	c.338A>T	c.(337-339)gAt>gTt	p.D113V	IK_ENST00000523672.1_3'UTR	NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	113					cell-cell signaling (GO:0007267)|immune response (GO:0006955)	extracellular space (GO:0005615)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			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	0.502																																						uc003lgq.3																			0				large_intestine(1)	1						c.(337-339)gAt>gTt		Homo sapiens IK cytokine, down-regulator of HLA II (IK), mRNA.							105.0	102.0	103.0					5																	140032663		1952	4142	6094	SO:0001583	missense	3550				cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction		g.chr5:140032663A>T	BC051295	CCDS47280.1	5q31.3	2008-08-07			ENSG00000113141	ENSG00000113141			5958	protein-coding gene	gene with protein product		600549				7970704	Standard	NM_006083		Approved		uc003lgq.3	Q13123	OTTHUMG00000163374	ENST00000417647.2:c.338A>T	5.37:g.140032663A>T	ENSP00000396301:p.Asp113Val		Somatic				IK_uc011czk.1_Missense_Mutation_p.D113V|IK_uc021yen.1_Missense_Mutation_p.D54V	p.D113V	NM_006083	NP_006074	WXS	Illumina GAIIx	Phase_I	Q13123	RED_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	448	+		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	113					Q6IPD8	Missense_Mutation	SNP	ENST00000417647.2	37	c.338A>T	CCDS47280.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.956340	0.92726	.	.	ENSG00000113141	ENST00000417647;ENST00000507593;ENST00000508301;ENST00000261812;ENST00000502899	.	.	.	5.94	5.94	0.96194	RED-like, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86522	0.5953	M	0.93197	3.39	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.995;0.998	D	0.89941	0.4073	8	.	.	.	.	16.069	0.80909	1.0:0.0:0.0:0.0	.	113;113	Q9UK43;Q13123	.;RED_HUMAN	V	113;120;113;113;113	.	.	D	+	2	0	IK	140012847	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.086000	0.94088	2.275000	0.75901	0.528000	0.53228	GAT		0.502	IK-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372897.1	NM_006083		34	80	0	0	0	1	0	34	80				
OR2L13	284521	broad.mit.edu	37	1	248154046	248154046	+	Intron	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	ENST00000366478.2	+	1	194					NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	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;0.0132)			GTGCTCACACGGTATATGCAC	0.468																																						uc001idv.1																			0				lung(11)	11						c.(232-234)acG>acT		Homo sapiens olfactory receptor, family 2, subfamily L, member 1 pseudogene (OR2L1P), non-coding RNA.																																				SO:0001627	intron_variant	26247							g.chr1:248154046G>T	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000366478.2:c.-144+53360G>T	1.37:g.248154046G>T			Somatic				OR2L13_uc001ids.3_Intron	p.T78T			WXS	Illumina GAIIx	Phase_I					0	478	+								Q5VUR5	Silent	SNP	ENST00000366478.2	37	c.234G>T	CCDS1637.1																																																																																				0.468	OR2L13-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_175911		4	135	0	0	0	1	0	4	135				
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	ENST00000303045.6	-	3	1028	c.582C>T	c.(580-582)tcC>tcT	p.S194S	COL22A1_ENST00000435777.1_Silent_p.S194S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	194	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				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	0.672										HNSCC(7;0.00092)																												uc003yvd.3																			0				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						c.(580-582)tcC>tcT		Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.							35.0	36.0	36.0					8																	139890069		2203	4300	6503	SO:0001819	synonymous_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139890069G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.582C>T	8.37:g.139890069G>A		HNSCC(7;0.00092)	Somatic					p.S194S	NM_152888	NP_690848	WXS	Illumina GAIIx	Phase_I	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		2	1029	-	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)		194			VWFA.		B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	c.582C>T	CCDS6376.1																																																																																				0.672	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		3	85	0	0	0	1	0	3	85				
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	ENST00000288050.4	+	18	3020	c.2063A>T	c.(2062-2064)cAt>cTt	p.H688L	PDPR_ENST00000398122.3_Missense_Mutation_p.H588L|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000568530.1_Missense_Mutation_p.H688L|PDPR_ENST00000562100.1_Intron|PDPR_ENST00000542659.1_Missense_Mutation_p.H33L|PDPR_ENST00000567046.1_Missense_Mutation_p.H46L	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	688					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			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	0.448																																						uc002eyf.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33						c.(2062-2064)cAt>cTt		Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit (PDPR), mRNA.							110.0	109.0	109.0					16																	70187304		1983	4175	6158	SO:0001583	missense	55066				glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	g.chr16:70187304A>T		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.2063A>T	16.37:g.70187304A>T	ENSP00000288050:p.His688Leu		Somatic				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	p.H688L	NM_017990	NP_060460	WXS	Illumina GAIIx	Phase_I	Q8NCN5	PDPR_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.124)	17	3020	+			688					A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	ENST00000288050.4	37	c.2063A>T	CCDS45520.1	.	.	.	.	.	.	.	.	.	.	A	29.7	5.024459	0.93518	.	.	ENSG00000090857	ENST00000288050;ENST00000398122;ENST00000542659	T;T;T	0.75589	-0.95;-0.95;-0.95	5.74	5.74	0.90152	Glycine cleavage T-protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86644	0.5982	M	0.84948	2.725	0.80722	D	1	D	0.63046	0.992	D	0.67900	0.954	D	0.87305	0.2308	10	0.45353	T	0.12	.	15.511	0.75782	1.0:0.0:0.0:0.0	.	688	Q8NCN5	PDPR_HUMAN	L	688;588;33	ENSP00000288050:H688L;ENSP00000381190:H588L;ENSP00000441690:H33L	ENSP00000288050:H688L	H	+	2	0	PDPR	68744805	1.000000	0.71417	0.964000	0.40570	0.955000	0.61496	9.255000	0.95524	2.317000	0.78254	0.459000	0.35465	CAT		0.448	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		10	47	0	0	0	1	0	10	47				
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	ENST00000402744.4	+	8	1544	c.1264A>G	c.(1264-1266)Aca>Gca	p.T422A		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	422					cardiac left ventricle morphogenesis (GO:0003214)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|insulin processing (GO:0030070)|metabolic process (GO:0008152)|neuropeptide signaling pathway (GO:0007218)|protein localization to membrane (GO:0072657)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)	carboxypeptidase activity (GO:0004180)|cell adhesion molecule binding (GO:0050839)|metallocarboxypeptidase activity (GO:0004181)|neurexin family protein binding (GO:0042043)|zinc ion binding (GO:0008270)			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)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CTATAAACTTACAGCCTCAGC	0.408																																						uc003irg.4																			0				endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(1264-1266)Aca>Gca		Homo sapiens carboxypeptidase E (CPE), mRNA.	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						140.0	135.0	137.0					4																	166416761		2203	4300	6503	SO:0001583	missense	1363				cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding	g.chr4:166416761A>G	X51405	CCDS3810.1	4q32.3	2012-02-10			ENSG00000109472	ENSG00000109472	3.4.17.10		2303	protein-coding gene	gene with protein product	"""carboxypeptidase H"", ""enkephalin convertase"", ""insulin granule-associated carboxypeptidase"", ""cobalt-stimulated chromaffin granule carboxypeptidase"""	114855				2334405	Standard	NM_001873		Approved		uc003irg.4	P16870	OTTHUMG00000150252	ENST00000402744.4:c.1264A>G	4.37:g.166416761A>G	ENSP00000386104:p.Thr422Ala		Somatic					p.T422A	NM_001873	NP_001864	WXS	Illumina GAIIx	Phase_I	P16870	CBPE_HUMAN		GBM - Glioblastoma multiforme(119;0.137)	7	1541	+	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)	422					A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9	Missense_Mutation	SNP	ENST00000402744.4	37	c.1264A>G	CCDS3810.1	.	.	.	.	.	.	.	.	.	.	A	16.07	3.019012	0.54576	.	.	ENSG00000109472	ENST00000402744	T	0.48522	0.81	5.65	5.65	0.86999	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.165377	0.53938	D	0.000051	T	0.49966	0.1588	M	0.67625	2.065	0.47065	D	0.999303	B	0.16166	0.016	B	0.19148	0.024	T	0.49597	-0.8923	10	0.66056	D	0.02	-6.5633	15.8663	0.79067	1.0:0.0:0.0:0.0	.	422	P16870	CBPE_HUMAN	A	422	ENSP00000386104:T422A	ENSP00000386104:T422A	T	+	1	0	CPE	166636211	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	4.360000	0.59455	2.152000	0.67230	0.482000	0.46254	ACA		0.408	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317094.2	NM_001873		10	181	0	0	0	1	0	10	181				
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	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(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	0.458	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)																												uc009wgu.3	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		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"""L, E"""			"""melanoma, MM, AML, thyroid"""		610	Substitution - Missense(609)|Complex(1)	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)	skin(372)|haematopoietic_and_lymphoid_tissue(73)|thyroid(55)|NS(29)|large_intestine(28)|soft_tissue(16)|lung(12)|autonomic_ganglia(6)|liver(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|cervix(2)|endometrium(2)|pancreas(2)|meninges(1)|kidney(1)|biliary_tract(1)|stomach(1)|ovary(1)|bone(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						c.(181-183)Caa>Aaa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180.0	156.0	164.0					1																	115256530		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	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	g.chr1:115256530G>T	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.181C>A	1.37:g.115256530G>T	ENSP00000358548:p.Gln61Lys	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)	Somatic					p.Q61K	NM_002524	NP_002515	WXS	Illumina GAIIx	Phase_I	P01111	RASN_HUMAN		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)	2	435	-	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)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.181C>A	CCDS877.1	.	.	.	.	.	.	.	.	.	.	G	33	5.255564	0.95336	.	.	ENSG00000213281	ENST00000369535	D	0.83506	-1.73	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.91845	0.7419	H	0.95850	3.73	0.80722	D	1	P	0.51791	0.948	P	0.54759	0.76	D	0.93711	0.7024	10	0.62326	D	0.03	.	18.6626	0.91477	0.0:0.0:1.0:0.0	.	61	P01111	RASN_HUMAN	K	61	ENSP00000358548:Q61K	ENSP00000358548:Q61K	Q	-	1	0	NRAS	115058053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.520000	0.98027	2.624000	0.88883	0.655000	0.94253	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		90	204	0	0	0	1	0	90	204				
