#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_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	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
TUBB8P7	197331	broad.mit.edu	37	16	90161852	90161852	+	RNA	SNP	A	A	G	rs11076666	byFrequency	TCGA-DJ-A4UR-01A-11D-A257-08	TCGA-DJ-A4UR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96322657-d1a7-41c1-bdf0-24497e508a24	87d1c17c-cf0f-439f-bf79-1e3a6e092738	g.chr16:90161852A>G	ENST00000564451.1	+	0	1205				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		TAGAAAACGCAGATGAGACCT	0.498													.|||	2324	0.464058	0.8646	0.3329	5008	,	,		17439	0.2083		0.4682	False		,,,				2504	0.2751					ENST00000567960.1																			0																																																			0							g.chr16:90161852A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161852A>G						TUBB8P7_ENST00000564451.1_RNA								0	588	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.498	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	64	0	0	0	1	0	4	64				
MXRA5	25878	broad.mit.edu	37	X	3241966	3241966	+	Missense_Mutation	SNP	A	A	G	rs147548313		TCGA-DJ-A4UR-01A-11D-A257-08	TCGA-DJ-A4UR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96322657-d1a7-41c1-bdf0-24497e508a24	87d1c17c-cf0f-439f-bf79-1e3a6e092738	g.chrX:3241966A>G	ENST00000217939.6	-	5	1914	c.1760T>C	c.(1759-1761)aTt>aCt	p.I587T		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	587	Ig-like C2-type 2.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTTCTTGCCAATTGTCACTGT	0.488																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(1759-1761)aTt>aCt		matrix-remodelling associated 5		A	THR/ILE	1,3834		0,1,0,1631,571	57.0	42.0	47.0		1760	4.0	0.0	X	dbSNP_134	47	1,6727		0,0,1,2428,1871	yes	missense	MXRA5	NM_015419.3	89	0,1,1,4059,2442	GG,GA,G,AA,A		0.0149,0.0261,0.0189	probably-damaging	587/2829	3241966	2,10561	2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3241966A>G	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.1760T>C	X.37:g.3241966A>G	ENSP00000217939:p.Ile587Thr						p.I587T	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	1914	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	587			Ig-like C2-type 2.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.1760T>C	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	A	13.86	2.363056	0.41902	2.61E-4	1.49E-4	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.64438	-0.1	3.95	3.95	0.45737	Immunoglobulin-like (1);	0.359291	0.19794	U	0.105905	T	0.54549	0.1865	L	0.51914	1.62	0.09310	N	1	B	0.30634	0.288	B	0.29524	0.103	T	0.46679	-0.9174	10	0.33940	T	0.23	.	12.4327	0.55583	1.0:0.0:0.0:0.0	.	587	Q9NR99	MXRA5_HUMAN	T	587	ENSP00000217939:I587T	ENSP00000217939:I587T	I	-	2	0	MXRA5	3251966	0.080000	0.21391	0.001000	0.08648	0.008000	0.06430	3.776000	0.55356	1.291000	0.44653	0.427000	0.28365	ATT		0.488	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		11	16	0	0	0	1	0	11	16				
HUWE1	10075	broad.mit.edu	37	X	53635851	53635851	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A4UR-01A-11D-A257-08	TCGA-DJ-A4UR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96322657-d1a7-41c1-bdf0-24497e508a24	87d1c17c-cf0f-439f-bf79-1e3a6e092738	g.chrX:53635851G>A	ENST00000342160.3	-	23	2738	c.2281C>T	c.(2281-2283)Cgt>Tgt	p.R761C	HUWE1_ENST00000262854.6_Missense_Mutation_p.R761C|HUWE1_ENST00000218328.8_Missense_Mutation_p.R761C			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	761					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATAGGAATACGTTCCTCTGTA	0.388																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(2281-2283)Cgt>Tgt		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							161.0	133.0	142.0					X																	53635851		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53635851G>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.2281C>T	X.37:g.53635851G>A	ENSP00000340648:p.Arg761Cys					HUWE1_ENST00000218328.8_Missense_Mutation_p.R761C|HUWE1_ENST00000262854.6_Missense_Mutation_p.R761C	p.R761C			Q7Z6Z7	HUWE1_HUMAN			23	2738	-			761					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.2281C>T	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566975	0.65651	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.46451	0.87;0.87;0.87	4.9	3.99	0.46301	E3 ubiquitin ligase, domain of unknown function DUF913 (1);	0.571348	0.16288	N	0.221059	T	0.59293	0.2183	M	0.63843	1.955	0.58432	D	0.999999	D	0.89917	1.0	D	0.76071	0.987	T	0.61327	-0.7085	10	0.87932	D	0	.	10.8929	0.47006	0.0:0.0:0.67:0.33	.	761	Q7Z6Z7	HUWE1_HUMAN	C	761	ENSP00000340648:R761C;ENSP00000262854:R761C;ENSP00000218328:R761C	ENSP00000218328:R761C	R	-	1	0	HUWE1	53652576	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.709000	0.54853	2.024000	0.59613	0.600000	0.82982	CGT		0.388	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		24	52	0	0	0	1	0	24	52				
CILP2	148113	broad.mit.edu	37	19	19655920	19655920	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A4UR-01A-11D-A257-08	TCGA-DJ-A4UR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96322657-d1a7-41c1-bdf0-24497e508a24	87d1c17c-cf0f-439f-bf79-1e3a6e092738	g.chr19:19655920C>T	ENST00000291495.5	+	8	2651	c.2566C>T	c.(2566-2568)Cgt>Tgt	p.R856C	CILP2_ENST00000586018.1_Missense_Mutation_p.R862C	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	856						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CGCCTTCAAGCGTAACGGCTT	0.697																																						ENST00000586018.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(2584-2586)Cgt>Tgt		cartilage intermediate layer protein 2							27.0	27.0	27.0					19																	19655920		2111	4121	6232	SO:0001583	missense	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19655920C>T	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.2566C>T	19.37:g.19655920C>T	ENSP00000291495:p.Arg856Cys					CILP2_ENST00000291495.4_Missense_Mutation_p.R856C	p.R862C			Q8IUL8	CILP2_HUMAN			8	2686	+			856					Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	c.2584C>T	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452212	0.63290	.	.	ENSG00000160161	ENST00000291495	T	0.10099	2.91	5.2	1.56	0.23342	.	0.111125	0.56097	D	0.000027	T	0.13970	0.0338	L	0.36672	1.1	0.37626	D	0.921496	D;D	0.69078	0.997;0.997	P;P	0.55260	0.772;0.772	T	0.06770	-1.0808	10	0.87932	D	0	-26.3624	7.351	0.26691	0.5035:0.3626:0.1339:0.0	.	856;856	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	C	856	ENSP00000291495:R856C	ENSP00000291495:R856C	R	+	1	0	CILP2	19516920	1.000000	0.71417	0.002000	0.10522	0.932000	0.56968	6.673000	0.74482	0.542000	0.28846	0.555000	0.69702	CGT		0.697	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		14	33	0	0	0	1	0	14	33				
TENM1	10178	broad.mit.edu	37	X	123615678	123615678	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A4UR-01A-11D-A257-08	TCGA-DJ-A4UR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96322657-d1a7-41c1-bdf0-24497e508a24	87d1c17c-cf0f-439f-bf79-1e3a6e092738	g.chrX:123615678C>A	ENST00000371130.3	-	21	3895	c.3832G>T	c.(3832-3834)Gtg>Ttg	p.V1278L	TENM1_ENST00000422452.2_Missense_Mutation_p.V1285L|TENM1_ENST00000461429.1_5'UTR	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1278					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CCTGCCACCACTTCAAAATTC	0.468																																						ENST00000422452.2																			0											c.(3853-3855)Gtg>Ttg		teneurin transmembrane protein 1							139.0	113.0	122.0					X																	123615678		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123615678C>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.3832G>T	X.37:g.123615678C>A	ENSP00000360171:p.Val1278Leu					TENM1_ENST00000371130.3_Missense_Mutation_p.V1278L|TENM1_ENST00000461429.1_5'UTR	p.V1285L	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					22	3916	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.3853G>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.882907	0.51908	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.89746	-2.56;-2.56	4.86	4.86	0.63082	Six-bladed beta-propeller, TolB-like (1);	0.071900	0.56097	D	0.000030	D	0.83622	0.5294	L	0.37750	1.13	0.58432	D	0.999993	P;B;P	0.37441	0.595;0.217;0.5	B;B;B	0.31016	0.123;0.033;0.11	D	0.85537	0.1213	10	0.62326	D	0.03	.	17.4266	0.87528	0.0:1.0:0.0:0.0	.	1284;1285;1278	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	L	1278;1285	ENSP00000360171:V1278L;ENSP00000403954:V1285L	ENSP00000360171:V1278L	V	-	1	0	ODZ1	123443359	0.964000	0.33143	1.000000	0.80357	0.996000	0.88848	2.093000	0.41710	2.128000	0.65567	0.600000	0.82982	GTG		0.468	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		7	80	1	0	2.7689e-08	1	3.11501e-08	7	80				
LRFN5	145581	broad.mit.edu	37	14	42355903	42355903	+	Silent	SNP	C	C	A			TCGA-DJ-A4UR-01A-11D-A257-08	TCGA-DJ-A4UR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96322657-d1a7-41c1-bdf0-24497e508a24	87d1c17c-cf0f-439f-bf79-1e3a6e092738	g.chr14:42355903C>A	ENST00000298119.4	+	3	1264	c.75C>A	c.(73-75)gtC>gtA	p.V25V	LRFN5_ENST00000554171.1_Silent_p.V25V|LRFN5_ENST00000554120.1_Silent_p.V25V	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	25	LRRNT.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AGCGTTGTGTCTGTCAGATTT	0.403										HNSCC(30;0.082)																												ENST00000554171.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(73-75)gtC>gtA		leucine rich repeat and fibronectin type III domain containing 5							90.0	82.0	85.0					14																	42355903		2203	4300	6503	SO:0001819	synonymous_variant	145581					integral to membrane		g.chr14:42355903C>A	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.75C>A	14.37:g.42355903C>A		HNSCC(30;0.082)				LRFN5_ENST00000298119.4_Silent_p.V25V|LRFN5_ENST00000554120.1_Silent_p.V25V	p.V25V			Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	5	2507	+			25			LRRNT.		B3KU78|Q86XL2	Silent	SNP	ENST00000298119.4	37	c.75C>A	CCDS9678.1																																																																																				0.403	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		12	20	1	0	0.000978159	1	0.00100611	12	20				
RP11-423O2.5	0	broad.mit.edu	37	1	142803480	142803480	+	lincRNA	SNP	T	T	C			TCGA-DJ-A4UR-01A-11D-A257-08	TCGA-DJ-A4UR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96322657-d1a7-41c1-bdf0-24497e508a24	87d1c17c-cf0f-439f-bf79-1e3a6e092738	g.chr1:142803480T>C	ENST00000423385.1	-	0	1485																											GATTTTAATATTCTGTACATT	0.343																																						ENST00000423385.1																			0																																																			0							g.chr1:142803480T>C																													1.37:g.142803480T>C														0	1485	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.343	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			5	62	0	0	0	1	0	5	62				
FAM183B	340286	broad.mit.edu	37	7	38725408	38725408	+	Missense_Mutation	SNP	C	C	G	rs201780133		TCGA-DJ-A4UR-01A-11D-A257-08	TCGA-DJ-A4UR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96322657-d1a7-41c1-bdf0-24497e508a24	87d1c17c-cf0f-439f-bf79-1e3a6e092738	g.chr7:38725408C>G	ENST00000409072.3	-	2	1132	c.198G>C	c.(196-198)agG>agC	p.R66S				Q6ZVS7	F183B_HUMAN	family with sequence similarity 183, member B	66										endometrium(1)|lung(7)	8						GATTCAGAAACCTGGCGTCTG	0.542																																						ENST00000409072.3																			0				endometrium(1)|lung(7)	8						c.(196-198)agG>agC		family with sequence similarity 183, member B		C		0,3822		0,0,1911	97.0	99.0	99.0			1.2	0.1	7		99	4,8196		1,2,4097	no	intergenic				1,2,6008	GG,GC,CC		0.0488,0.0,0.0333			38725408	4,12018	1911	4100	6011	SO:0001583	missense	340286							g.chr7:38725408C>G	AK124132, BC045803		7p14.1	2008-08-11			ENSG00000164556	ENSG00000164556			34511	protein-coding gene	gene with protein product							Standard	NR_028347		Approved	LOC340286	uc011kbd.2	Q6ZVS7	OTTHUMG00000153653	ENST00000409072.3:c.198G>C	7.37:g.38725408C>G	ENSP00000386657:p.Arg66Ser						p.R66S							2	1132	-								A4D1Y1	Missense_Mutation	SNP	ENST00000409072.3	37	c.198G>C		.	.	.	.	.	.	.	.	.	.	C	12.99	2.104855	0.37145	0.0	4.88E-4	ENSG00000164556	ENST00000409072	.	.	.	1.16	1.16	0.20824	.	0.368720	0.26279	N	0.025290	T	0.24967	0.0606	.	.	.	0.23724	N	0.997011	.	.	.	.	.	.	T	0.11155	-1.0599	6	0.27082	T	0.32	.	5.574	0.17212	0.0:1.0:0.0:0.0	.	.	.	.	S	66	.	ENSP00000386657:R66S	R	-	3	2	FAM183B	38691933	0.997000	0.39634	0.080000	0.20451	0.078000	0.17371	-0.054000	0.11826	0.556000	0.29098	0.563000	0.77884	AGG		0.542	FAM183B-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331972.1	NM_001105282		26	48	0	0	0	1	0	26	48				
BPIFC	254240	broad.mit.edu	37	22	32841871	32841871	+	Missense_Mutation	SNP	C	C	T	rs202166085		TCGA-DJ-A4UR-01A-11D-A257-08	TCGA-DJ-A4UR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96322657-d1a7-41c1-bdf0-24497e508a24	87d1c17c-cf0f-439f-bf79-1e3a6e092738	g.chr22:32841871C>T	ENST00000397452.1	-	5	597	c.487G>A	c.(487-489)Gcc>Acc	p.A163T	BPIFC_ENST00000432451.2_5'UTR|BPIFC_ENST00000534972.1_Intron|BPIFC_ENST00000300399.3_Missense_Mutation_p.A163T			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	163						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										CTCAGTTGGGCGTAGCAATCT	0.522																																						ENST00000397452.1																			0											c.(487-489)Gcc>Acc		BPI fold containing family C							82.0	79.0	80.0					22																	32841871		2203	4300	6503	SO:0001583	missense	254240					extracellular region	lipopolysaccharide binding|phospholipid binding	g.chr22:32841871C>T	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.487G>A	22.37:g.32841871C>T	ENSP00000380594:p.Ala163Thr					BPIFC_ENST00000300399.3_Missense_Mutation_p.A163T|BPIFC_ENST00000432451.2_5'UTR|BPIFC_ENST00000534972.1_Intron	p.A163T			Q8NFQ6	BPIL2_HUMAN			5	597	-			163					A2RRF1	Missense_Mutation	SNP	ENST00000397452.1	37	c.487G>A	CCDS13906.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499044	0.64298	.	.	ENSG00000184459	ENST00000397452;ENST00000300399	T;T	0.05139	3.49;3.49	5.6	5.6	0.85130	.	0.259960	0.38492	N	0.001665	T	0.09598	0.0236	M	0.66939	2.045	0.80722	D	1	P	0.34800	0.469	B	0.31812	0.136	T	0.12372	-1.0550	10	0.26408	T	0.33	-13.2509	15.1259	0.72483	0.0:1.0:0.0:0.0	.	163	Q8NFQ6	BPIFC_HUMAN	T	163	ENSP00000380594:A163T;ENSP00000300399:A163T	ENSP00000300399:A163T	A	-	1	0	BPIFC	31171871	0.951000	0.32395	0.855000	0.33649	0.629000	0.37895	2.161000	0.42358	2.641000	0.89580	0.650000	0.86243	GCC		0.522	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932		3	23	0	0	0	1	0	3	23				
LPP	4026	broad.mit.edu	37	3	188426084	188426084	+	Silent	SNP	G	G	A	rs149905073	byFrequency	TCGA-DJ-A4UR-01A-11D-A257-08	TCGA-DJ-A4UR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96322657-d1a7-41c1-bdf0-24497e508a24	87d1c17c-cf0f-439f-bf79-1e3a6e092738	g.chr3:188426084G>A	ENST00000312675.4	+	7	1389	c.1143G>A	c.(1141-1143)tcG>tcA	p.S381S	LPP_ENST00000543006.1_Silent_p.S381S|LPP_ENST00000448637.1_Silent_p.S381S|LPP_ENST00000471917.1_3'UTR	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	381					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		TGGGGCCTTCGTCAGTTGCCC	0.507			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								G|||	14	0.00279553	0.0	0.0	5008	,	,		19151	0.0		0.008	False		,,,				2504	0.0061					ENST00000312675.4				Dom	yes		3	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma			"""L, M"""	"""HMGA2, MLL, C12orf9"""		"""lipoma, leukemia"""	HMGA2/LPP(161)	0				NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(1141-1143)tcG>tcA		LIM domain containing preferred translocation partner in lipoma		G	,,	10,4396	16.8+/-37.8	0,10,2193	112.0	100.0	104.0		1143,702,1143	-11.5	0.0	3	dbSNP_134	104	79,8521	47.2+/-106.3	0,79,4221	no	coding-synonymous,coding-synonymous,coding-synonymous	LPP	NM_001167671.1,NM_001167672.1,NM_005578.3	,,	0,89,6414	AA,AG,GG		0.9186,0.227,0.6843	,,	381/613,234/466,381/613	188426084	89,12917	2203	4300	6503	SO:0001819	synonymous_variant	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188426084G>A	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"""LIM domain-containing preferred translocation partner in lipoma"""			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.1143G>A	3.37:g.188426084G>A						LPP_ENST00000543006.1_Silent_p.S381S|LPP_ENST00000471917.1_3'UTR|LPP_ENST00000448637.1_Silent_p.S381S	p.S381S	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN		GBM - Glioblastoma multiforme(93;0.00602)	7	1389	+	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	381					A1L4L6|D3DNV6|Q8NFX5	Silent	SNP	ENST00000312675.4	37	c.1143G>A	CCDS3291.1																																																																																				0.507	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		4	62	0	0	0	1	0	4	62				
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-DJ-A4UR-01A-11D-A257-08	TCGA-DJ-A4UR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96322657-d1a7-41c1-bdf0-24497e508a24	87d1c17c-cf0f-439f-bf79-1e3a6e092738	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in 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.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"""L, E"""			"""melanoma, MM, AML, thyroid"""		1016	Substitution - Missense(1016)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(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>cGa		neuroblastoma RAS viral (v-ras) oncogene homolog							180.0	156.0	164.0					1																	115256529		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	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	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.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524.4	NP_002515.1	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)	3	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.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		55	92	0	0	0	1	0	55	92				
PCDHA1	56147	broad.mit.edu	37	5	140166057	140166057	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A4UR-01A-11D-A257-08	TCGA-DJ-A4UR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96322657-d1a7-41c1-bdf0-24497e508a24	87d1c17c-cf0f-439f-bf79-1e3a6e092738	g.chr5:140166057C>T	ENST00000504120.2	+	1	182	c.182C>T	c.(181-183)cCt>cTt	p.P61L	PCDHA1_ENST00000378133.3_Missense_Mutation_p.P61L|PCDHA1_ENST00000394633.3_Missense_Mutation_p.P61L	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	61	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCTGGTGCCTCGCCTGTTC	0.592																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(181-183)cCt>cTt									60.0	65.0	63.0					5																	140166057		2203	4300	6503	SO:0001583	missense	0							g.chr5:140166057C>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.182C>T	5.37:g.140166057C>T	ENSP00000420840:p.Pro61Leu					PCDHA1_ENST00000378133.3_Missense_Mutation_p.P61L|PCDHA1_ENST00000394633.3_Missense_Mutation_p.P61L	p.P61L	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	182	+								O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.182C>T	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	c	15.30	2.793016	0.50102	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.26660	1.72;1.72;1.72	4.53	4.53	0.55603	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.175198	0.27176	U	0.020572	T	0.46151	0.1378	M	0.72576	2.205	0.34935	D	0.749757	P;P;P	0.49635	0.738;0.926;0.807	B;P;B	0.55391	0.263;0.775;0.317	T	0.63386	-0.6649	10	0.87932	D	0	.	17.6095	0.88048	0.0:1.0:0.0:0.0	.	61;61;61	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	L	61	ENSP00000420840:P61L;ENSP00000378129:P61L;ENSP00000367373:P61L	ENSP00000367373:P61L	P	+	2	0	PCDHA1	140146241	0.021000	0.18746	1.000000	0.80357	0.792000	0.44763	1.639000	0.37176	2.246000	0.74042	0.650000	0.86243	CCT		0.592	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		15	84	0	0	0	1	0	15	84				
NKG7	4818	broad.mit.edu	37	19	51875739	51875739	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A4UR-01A-11D-A257-08	TCGA-DJ-A4UR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96322657-d1a7-41c1-bdf0-24497e508a24	87d1c17c-cf0f-439f-bf79-1e3a6e092738	g.chr19:51875739C>T	ENST00000221978.5	-	1	230	c.51G>A	c.(49-51)atG>atA	p.M17I	NKG7_ENST00000600427.1_Missense_Mutation_p.M17I|NKG7_ENST00000595217.1_Missense_Mutation_p.M17I	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN	natural killer cell granule protein 7	17						integral component of plasma membrane (GO:0005887)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCAGGCAGAACATCAGGCCCA	0.622																																						ENST00000221978.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						c.(49-51)atG>atA		natural killer cell group 7 sequence							61.0	64.0	63.0					19																	51875739		2203	4300	6503	SO:0001583	missense	4818					integral to plasma membrane		g.chr19:51875739C>T		CCDS12830.1	19q13.41	2014-03-07	2014-03-07		ENSG00000105374	ENSG00000105374			7830	protein-coding gene	gene with protein product	"""granule membrane protein 17"""	606008	"""natural killer cell group 7 sequence"""			8458737	Standard	NM_005601		Approved	GIG1, GMP-17	uc002pwj.3	Q16617	OTTHUMG00000182898	ENST00000221978.5:c.51G>A	19.37:g.51875739C>T	ENSP00000221978:p.Met17Ile					NKG7_ENST00000600427.1_Missense_Mutation_p.M17I|NKG7_ENST00000595217.1_Missense_Mutation_p.M17I	p.M17I	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	1	230	-		all_neural(266;0.0199)	17						Missense_Mutation	SNP	ENST00000221978.5	37	c.51G>A	CCDS12830.1	.	.	.	.	.	.	.	.	.	.	C	4.747	0.138941	0.09083	.	.	ENSG00000105374	ENST00000221978	D	0.88046	-2.33	4.98	-9.95	0.00446	.	1.779970	0.03077	N	0.157952	T	0.63129	0.2485	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.60672	-0.7217	10	0.14252	T	0.57	-32.1921	0.9445	0.01362	0.3545:0.0966:0.2259:0.323	.	17	Q16617	NKG7_HUMAN	I	17	ENSP00000221978:M17I	ENSP00000221978:M17I	M	-	3	0	NKG7	56567551	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-2.275000	0.01162	-3.621000	0.00131	-1.045000	0.02358	ATG		0.622	NKG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464260.2	NM_005601		26	53	0	0	0	1	0	26	53				
NDRG4	65009	broad.mit.edu	37	16	58542903	58542903	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A4UR-01A-11D-A257-08	TCGA-DJ-A4UR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96322657-d1a7-41c1-bdf0-24497e508a24	87d1c17c-cf0f-439f-bf79-1e3a6e092738	g.chr16:58542903C>A	ENST00000570248.1	+	11	873	c.767C>A	c.(766-768)aCc>aAc	p.T256N	NDRG4_ENST00000394279.2_Missense_Mutation_p.T288N|NDRG4_ENST00000566192.1_Missense_Mutation_p.T256N|NDRG4_ENST00000562999.1_Missense_Mutation_p.T256N|NDRG4_ENST00000356752.4_Missense_Mutation_p.T286N|NDRG4_ENST00000258187.5_Missense_Mutation_p.T288N|NDRG4_ENST00000568640.1_Missense_Mutation_p.T274N|NDRG4_ENST00000563799.1_Missense_Mutation_p.T274N|NDRG4_ENST00000394282.4_Missense_Mutation_p.T308N|NDRG4_ENST00000569923.1_Missense_Mutation_p.T201N	NM_001242835.1	NP_001229764.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	256	Poly-Thr.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|response to stress (GO:0006950)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						ACCACTACGACCTTCCTGAAG	0.632																																						ENST00000394282.4																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						c.(922-924)aCc>aAc		NDRG family member 4							69.0	70.0	70.0					16																	58542903		2198	4300	6498	SO:0001583	missense	65009				cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm		g.chr16:58542903C>A	AB044947	CCDS10797.1, CCDS45500.1, CCDS55999.1, CCDS58465.1, CCDS58466.1, CCDS58467.1	16q21-q22.3	2008-07-04			ENSG00000103034	ENSG00000103034			14466	protein-coding gene	gene with protein product		614463				11352569, 16408304	Standard	NM_020465		Approved	KIAA1180, SMAP-8	uc002enk.3	Q9ULP0	OTTHUMG00000133485	ENST00000570248.1:c.767C>A	16.37:g.58542903C>A	ENSP00000457659:p.Thr256Asn					NDRG4_ENST00000562999.1_Missense_Mutation_p.T256N|NDRG4_ENST00000566192.1_Missense_Mutation_p.T256N|NDRG4_ENST00000570248.1_Missense_Mutation_p.T256N|NDRG4_ENST00000569923.1_Missense_Mutation_p.T201N|NDRG4_ENST00000394279.2_Missense_Mutation_p.T288N|NDRG4_ENST00000568640.1_Missense_Mutation_p.T274N|NDRG4_ENST00000563799.1_Missense_Mutation_p.T274N|NDRG4_ENST00000258187.5_Missense_Mutation_p.T288N|NDRG4_ENST00000356752.4_Missense_Mutation_p.T286N	p.T308N	NM_001130487.1	NP_001123959.1	Q9ULP0	NDRG4_HUMAN			13	1330	+			256					B3KNU2|B4DK66|B4DSW5|H7C600|Q6ZNE7|Q6ZTI7|Q96PL9|Q9GZM1|Q9GZN3|Q9GZX0	Missense_Mutation	SNP	ENST00000570248.1	37	c.923C>A	CCDS58466.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.672764	0.88445	.	.	ENSG00000103034	ENST00000258187;ENST00000421602;ENST00000394282;ENST00000394279;ENST00000356752	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.39545	0.1082	L	0.46947	1.48	0.58432	D	0.999999	P;P;P;P;P;P;P	0.52061	0.898;0.95;0.825;0.682;0.873;0.918;0.682	P;P;P;P;P;P;P	0.62435	0.867;0.902;0.842;0.626;0.81;0.712;0.626	T	0.04029	-1.0983	10	0.54805	T	0.06	-20.0957	18.0824	0.89445	0.0:1.0:0.0:0.0	.	274;286;274;256;256;308;288	B4DK66;B4DSW5;Q9ULP0-5;Q9ULP0-2;Q9ULP0;Q9ULP0-6;Q9ULP0-3	.;.;.;.;NDRG4_HUMAN;.;.	N	288;201;308;288;286	ENSP00000258187:T288N;ENSP00000377823:T308N;ENSP00000377820:T288N;ENSP00000349193:T286N	ENSP00000258187:T288N	T	+	2	0	NDRG4	57100404	1.000000	0.71417	0.997000	0.53966	0.742000	0.42306	5.725000	0.68507	2.607000	0.88179	0.561000	0.74099	ACC		0.632	NDRG4-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422671.2			3	31	1	0	0.115264	1	0.115264	3	31				
LCN15	389812	broad.mit.edu	37	9	139658396	139658396	+	Silent	SNP	G	G	A			TCGA-DJ-A4UR-01A-11D-A257-08	TCGA-DJ-A4UR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96322657-d1a7-41c1-bdf0-24497e508a24	87d1c17c-cf0f-439f-bf79-1e3a6e092738	g.chr9:139658396G>A	ENST00000316144.5	-	2	186	c.162C>T	c.(160-162)gaC>gaT	p.D54D	LCN15_ENST00000482511.1_5'UTR	NM_203347.1	NP_976222.1	Q6UWW0	LCN15_HUMAN	lipocalin 15	54					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	small molecule binding (GO:0036094)|transporter activity (GO:0005215)			endometrium(1)|lung(1)	2						TGGACAGGTGGTCCTTCTTGC	0.642																																						ENST00000316144.5																			0				endometrium(1)|lung(1)	2						c.(160-162)gaC>gaT		lipocalin 15							107.0	102.0	104.0					9																	139658396		2203	4300	6503	SO:0001819	synonymous_variant	389812				lipid metabolic process	extracellular region	binding|transporter activity	g.chr9:139658396G>A		CCDS7006.1	9q34.3	2011-10-24			ENSG00000177984	ENSG00000177984		"""Lipocalins"""	33777	protein-coding gene	gene with protein product							Standard	NM_203347		Approved	UNQ2541, PRO6093	uc004cjd.3	Q6UWW0	OTTHUMG00000020943	ENST00000316144.5:c.162C>T	9.37:g.139658396G>A						LCN15_ENST00000482511.1_5'UTR	p.D54D	NM_203347.1	NP_976222.1	Q6UWW0	LCN15_HUMAN			2	186	-			54						Silent	SNP	ENST00000316144.5	37	c.162C>T	CCDS7006.1																																																																																				0.642	LCN15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055114.2	NM_203347		9	105	0	0	0	1	0	9	105				
TUBB8P7	197331	broad.mit.edu	37	16	90162186	90162186	+	RNA	SNP	T	T	C	rs4299156	byFrequency	TCGA-DJ-A4UR-01A-11D-A257-08	TCGA-DJ-A4UR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96322657-d1a7-41c1-bdf0-24497e508a24	87d1c17c-cf0f-439f-bf79-1e3a6e092738	g.chr16:90162186T>C	ENST00000564451.1	+	0	1539				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		ACCCCCGTCATGGCCGCTACC	0.562													.|||	1663	0.332069	0.4251	0.2666	5008	,	,		17691	0.2063		0.4553	False		,,,				2504	0.2556					ENST00000567960.1																			0																																																			0							g.chr16:90162186T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162186T>C						TUBB8P7_ENST00000564451.1_RNA								0	922	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.562	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		5	106	0	0	0	1	0	5	106				
ANO7	50636	broad.mit.edu	37	2	242135327	242135327	+	Intron	SNP	G	G	A			TCGA-DJ-A4UR-01A-11D-A257-08	TCGA-DJ-A4UR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96322657-d1a7-41c1-bdf0-24497e508a24	87d1c17c-cf0f-439f-bf79-1e3a6e092738	g.chr2:242135327G>A	ENST00000274979.8	+	4	574				ANO7_ENST00000402530.3_Missense_Mutation_p.A179T|ANO7_ENST00000402430.3_Intron	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7						calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						TGACCTTGCCGCATGAGGCCT	0.632																																						ENST00000402530.3																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						c.(535-537)Gca>Aca		anoctamin 7							60.0	58.0	59.0					2																	242135327		1327	2309	3636	SO:0001627	intron_variant	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242135327G>A	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.471+67G>A	2.37:g.242135327G>A						ANO7_ENST00000274979.8_Intron|ANO7_ENST00000402430.3_Intron	p.A179T	NM_001001666.3	NP_001001666.1	Q6IWH7	ANO7_HUMAN			4	638	+			0					Q6IWH6	Missense_Mutation	SNP	ENST00000274979.8	37	c.535G>A	CCDS33423.1	.	.	.	.	.	.	.	.	.	.	G	2.096	-0.407212	0.04832	.	.	ENSG00000146205	ENST00000402530	T	0.50277	0.75	1.11	-0.958	0.10347	.	.	.	.	.	T	0.26521	0.0648	.	.	.	0.09310	N	1	P	0.34826	0.471	B	0.16722	0.016	T	0.12708	-1.0537	8	0.87932	D	0	.	3.1367	0.06441	0.2871:0.4105:0.3024:0.0	.	179	Q6IWH7-2	.	T	179	ENSP00000383985:A179T	ENSP00000383985:A179T	A	+	1	0	ANO7	241784000	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.449000	0.02392	-0.382000	0.07870	-1.545000	0.00906	GCA		0.632	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		3	36	0	0	0	1	0	3	36				
PTPRA	5786	broad.mit.edu	37	20	3016532	3016532	+	Missense_Mutation	SNP	G	G	A	rs375312168		TCGA-DJ-A4UR-01A-11D-A257-08	TCGA-DJ-A4UR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96322657-d1a7-41c1-bdf0-24497e508a24	87d1c17c-cf0f-439f-bf79-1e3a6e092738	g.chr20:3016532G>A	ENST00000216877.6	+	21	2516	c.2116G>A	c.(2116-2118)Gcc>Acc	p.A706T	PTPRA_ENST00000356147.3_Missense_Mutation_p.A706T|PTPRA_ENST00000358719.4_Missense_Mutation_p.A571T|PTPRA_ENST00000399903.2_Missense_Mutation_p.A715T|PTPRA_ENST00000380393.3_Missense_Mutation_p.A715T|PTPRA_ENST00000425918.2_Missense_Mutation_p.A726T|PTPRA_ENST00000318266.5_Missense_Mutation_p.A706T	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	715	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CATCATCGCCGCCGTGCAGAA	0.602																																						ENST00000216877.6																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(2116-2118)Gcc>Acc		protein tyrosine phosphatase, receptor type, A		G	THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	104.0	95.0	98.0		2143,2116,2116	5.6	1.0	20		98	0,8600		0,0,4300	no	missense,missense,missense	PTPRA	NM_002836.3,NM_080840.2,NM_080841.2	58,58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	715/803,706/794,706/794	3016532	1,13005	2203	4300	6503	SO:0001583	missense	0				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr20:3016532G>A		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.2116G>A	20.37:g.3016532G>A	ENSP00000216877:p.Ala706Thr					PTPRA_ENST00000399903.2_Missense_Mutation_p.A715T|PTPRA_ENST00000425918.2_Missense_Mutation_p.A726T|PTPRA_ENST00000380393.3_Missense_Mutation_p.A715T|PTPRA_ENST00000356147.3_Missense_Mutation_p.A706T|PTPRA_ENST00000318266.5_Missense_Mutation_p.A706T|PTPRA_ENST00000358719.4_Missense_Mutation_p.A571T	p.A706T	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN			21	2516	+			715			Tyrosine-protein phosphatase 2.		A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	ENST00000216877.6	37	c.2116G>A	CCDS13039.1	.	.	.	.	.	.	.	.	.	.	G	35	5.562041	0.96527	2.27E-4	0.0	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000542217;ENST00000425918;ENST00000318266;ENST00000356147	D;D;D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76	5.57	5.57	0.84162	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	U	0.000000	D	0.88470	0.6445	L	0.41027	1.25	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.995	B;D;P	0.83275	0.446;0.996;0.72	D	0.88998	0.3419	10	0.66056	D	0.02	.	19.5578	0.95358	0.0:0.0:1.0:0.0	.	726;715;706	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	T	715;706;715;571;325;726;706;706	ENSP00000369756:A715T;ENSP00000216877:A706T;ENSP00000382787:A715T;ENSP00000351559:A571T;ENSP00000393553:A726T;ENSP00000314568:A706T;ENSP00000348468:A706T	ENSP00000216877:A706T	A	+	1	0	PTPRA	2964532	1.000000	0.71417	0.973000	0.42090	0.985000	0.73830	9.869000	0.99810	2.604000	0.88044	0.563000	0.77884	GCC		0.602	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3			40	58	0	0	0	1	0	40	58				
FYCO1	79443	broad.mit.edu	37	3	46008279	46008279	+	Silent	SNP	C	C	A			TCGA-DJ-A4UR-01A-11D-A257-08	TCGA-DJ-A4UR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96322657-d1a7-41c1-bdf0-24497e508a24	87d1c17c-cf0f-439f-bf79-1e3a6e092738	g.chr3:46008279C>A	ENST00000296137.2	-	8	2752	c.2547G>T	c.(2545-2547)tcG>tcT	p.S849S	FYCO1_ENST00000535325.1_Silent_p.S849S	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	849					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTTCACGCTCCGAGCATTGCA	0.627																																						ENST00000296137.2																			0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.(2545-2547)tcG>tcT		FYVE and coiled-coil domain containing 1							46.0	45.0	46.0					3																	46008279		2203	4300	6503	SO:0001819	synonymous_variant	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46008279C>A	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.2547G>T	3.37:g.46008279C>A						FYCO1_ENST00000535325.1_Silent_p.S849S	p.S849S	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	8	2752	-			849					B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Silent	SNP	ENST00000296137.2	37	c.2547G>T	CCDS2734.1																																																																																				0.627	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		8	27	1	0	0.000157383	1	0.000166641	8	27				
MALAT1	378938	broad.mit.edu	37	11	65272905	65272905	+	lincRNA	SNP	T	T	C	rs561724063	byFrequency	TCGA-DJ-A4UR-01A-11D-A257-08	TCGA-DJ-A4UR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96322657-d1a7-41c1-bdf0-24497e508a24	87d1c17c-cf0f-439f-bf79-1e3a6e092738	g.chr11:65272905T>C	ENST00000534336.1	+	0	7673					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		CTCTTAATAATAAAGCCCAAA	0.463																																						ENST00000534336.1																			0																				96.0	95.0	96.0					11																	65272905		874	1988	2862			0							g.chr11:65272905T>C	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65272905T>C								NR_002819.2						0	7673	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.463	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		33	45	0	0	0	1	0	33	45				
LOC151174	151174	broad.mit.edu	37	2	239141505	239141505	+	5'Flank	SNP	A	A	G	rs11689432	byFrequency	TCGA-DJ-A4UR-01A-11D-A257-08	TCGA-DJ-A4UR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96322657-d1a7-41c1-bdf0-24497e508a24	87d1c17c-cf0f-439f-bf79-1e3a6e092738	g.chr2:239141505A>G	ENST00000409070.1	-	0	0				AC096574.4_ENST00000456601.1_RNA|AC016757.3_ENST00000409376.1_5'Flank|AC016757.3_ENST00000334973.4_5'Flank|AC016757.3_ENST00000470346.1_5'Flank|AC016757.3_ENST00000409942.1_5'Flank																							TTTTGGTGCAACAATTGGTTG	0.498													G|||	2644	0.527955	0.708	0.4366	5008	,	,		18489	0.3472		0.5388	False		,,,				2504	0.5245					ENST00000456601.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr2:239141505A>G																													2.37:g.239141505A>G	Exception_encountered													0	906	+									RNA	SNP	ENST00000409070.1	37																																																																																						0.498	AC016757.3-006	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000328480.1			4	44	0	0	0	1	0	4	44				
OR4K5	79317	broad.mit.edu	37	14	20388907	20388907	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A4UR-01A-11D-A257-08	TCGA-DJ-A4UR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96322657-d1a7-41c1-bdf0-24497e508a24	87d1c17c-cf0f-439f-bf79-1e3a6e092738	g.chr14:20388907A>T	ENST00000315915.4	+	1	167	c.142A>T	c.(142-144)Aca>Tca	p.T48S		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATTATCCTCACAGTGACTTC	0.408																																						ENST00000315915.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(142-144)Aca>Tca		olfactory receptor, family 4, subfamily K, member 5							226.0	235.0	232.0					14																	20388907		2203	4300	6503	SO:0001583	missense	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20388907A>T	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.142A>T	14.37:g.20388907A>T	ENSP00000319511:p.Thr48Ser						p.T48S	NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	167	+	all_cancers(95;0.00108)		48					Q6IFA7	Missense_Mutation	SNP	ENST00000315915.4	37	c.142A>T	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	8.032	0.761996	0.15914	.	.	ENSG00000176281	ENST00000315915	T	0.02890	4.12	4.41	-0.405	0.12392	GPCR, rhodopsin-like superfamily (1);	0.423873	0.19842	N	0.104830	T	0.03739	0.0106	M	0.77486	2.375	0.09310	N	1	B	0.30455	0.28	B	0.31245	0.126	T	0.36261	-0.9755	10	0.49607	T	0.09	.	0.6866	0.00884	0.3813:0.1726:0.2784:0.1677	.	48	Q8NGD3	OR4K5_HUMAN	S	48	ENSP00000319511:T48S	ENSP00000319511:T48S	T	+	1	0	OR4K5	19458747	0.000000	0.05858	0.002000	0.10522	0.586000	0.36452	-0.738000	0.04871	-0.251000	0.09542	-0.256000	0.11100	ACA		0.408	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		10	258	0	0	0	1	0	10	258				
KRTAP4-11	653240	broad.mit.edu	37	17	39274518	39274518	+	Missense_Mutation	SNP	C	C	T	rs9897031	byFrequency	TCGA-DJ-A4UR-01A-11D-A257-08	TCGA-DJ-A4UR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96322657-d1a7-41c1-bdf0-24497e508a24	87d1c17c-cf0f-439f-bf79-1e3a6e092738	g.chr17:39274518C>T	ENST00000391413.2	-	1	88	c.50G>A	c.(49-51)cGa>cAa	p.R17Q		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	17	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].			R -> Q (in Ref. 1; CAC27583 and 3; AAI26132/AAI30563). {ECO:0000305}.		keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGAGGTCTCGGCCACAGCC	0.592													t|||	3444	0.6877	0.9622	0.6686	5008	,	,		17251	0.4306		0.7137	False		,,,				2504	0.5685					ENST00000391413.2																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(49-51)cGa>cAa		keratin associated protein 4-11		T	GLN/ARG	1290,94		606,78,8	33.0	36.0	35.0		50	-0.2	0.3	17	dbSNP_119	35	2296,886		819,658,114	no	missense	KRTAP4-11	NM_033059.3	43	1425,736,122	TT,TC,CC		27.8441,6.7919,21.463	benign	17/196	39274518	3586,980	692	1591	2283	SO:0001583	missense	653240					keratin filament		g.chr17:39274518C>T	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.50G>A	17.37:g.39274518C>T	ENSP00000375232:p.Arg17Gln						p.R17Q	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	88	-		Breast(137;0.000496)	17	R -> Q (in Ref. 1; CAC27583 and 3; AAI26132/AAI30563).		27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.50G>A	CCDS45675.1	1511	0.6918498168498168	470	0.9552845528455285	251	0.6933701657458563	250	0.4370629370629371	540	0.712401055408971	.	0.008	-1.890787	0.00527	0.932081	0.721559	ENSG00000212721	ENST00000391413	T	0.00590	6.36	2.47	-0.215	0.13157	.	1.088530	0.07528	N	0.911716	T	0.00012	0.0000	N	0.00517	-1.405	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.14117	-1.0484	9	0.10111	T	0.7	.	2.9268	0.05787	0.0:0.3197:0.248:0.4323	rs9897031;rs62066328	17	Q9BYQ6	KR411_HUMAN	Q	17	ENSP00000375232:R17Q	ENSP00000375232:R17Q	R	-	2	0	KRTAP4-11	36528044	0.092000	0.21681	0.304000	0.25085	0.113000	0.19764	2.115000	0.41921	-0.140000	0.11394	-0.684000	0.03749	CGA		0.592	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			3	33	0	0	0	1	0	3	33				
TMEM260	54916	broad.mit.edu	37	14	57088388	57088388	+	Silent	SNP	T	T	C			TCGA-DJ-A4UR-01A-11D-A257-08	TCGA-DJ-A4UR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96322657-d1a7-41c1-bdf0-24497e508a24	87d1c17c-cf0f-439f-bf79-1e3a6e092738	g.chr14:57088388T>C	ENST00000261556.6	+	11	1488	c.1366T>C	c.(1366-1368)Ttg>Ctg	p.L456L	TMEM260_ENST00000538838.1_Intron|TMEM260_ENST00000536419.1_Intron	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	456						integral component of membrane (GO:0016021)											CTGTGAGGGGTTGAGGCCTGA	0.368																																						ENST00000261556.6																			0											c.(1366-1368)Ttg>Ctg		transmembrane protein 260							105.0	96.0	99.0					14																	57088388		2203	4300	6503	SO:0001819	synonymous_variant	54916							g.chr14:57088388T>C	AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 101"""	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.1366T>C	14.37:g.57088388T>C						TMEM260_ENST00000538838.1_Intron|TMEM260_ENST00000536419.1_Intron	p.L456L	NM_017799.3	NP_060269.3					11	1488	+								A8KAN4|B3KPF5|Q86XE1	Silent	SNP	ENST00000261556.6	37	c.1366T>C	CCDS9727.2																																																																																				0.368	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1	NM_017799		10	33	0	0	0	1	0	10	33				
SIGLEC16	400709	broad.mit.edu	37	19	50473221	50473221	+	RNA	SNP	T	T	C	rs440731	byFrequency	TCGA-DJ-A4UR-01A-11D-A257-08	TCGA-DJ-A4UR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96322657-d1a7-41c1-bdf0-24497e508a24	87d1c17c-cf0f-439f-bf79-1e3a6e092738	g.chr19:50473221T>C	ENST00000602139.1	+	0	222							A6NMB1	SIG16_HUMAN	sialic acid binding Ig-like lectin 16 (gene/pseudogene)						cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.W65R(3)		endometrium(2)|kidney(2)|lung(6)	10						GTTCAAAGGATGGACCAGCCC	0.602													T|||	728	0.145367	0.3162	0.049	5008	,	,		12105	0.128		0.0368	False		,,,				2504	0.1125					ENST00000602139.1																			3	Substitution - Missense(3)	p.W65R(3)	endometrium(2)|prostate(1)	endometrium(2)|kidney(2)|lung(6)	10								sialic acid binding Ig-like lectin 16 (gene/pseudogene)																																						400709							g.chr19:50473221T>C	BC030222		19q13.33	2014-03-20	2008-08-04	2008-08-04	ENSG00000161643	ENSG00000161643		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24851	protein-coding gene	gene with protein product			"""sialic acid binding Ig-like lectin, pseudogene 16"""	SIGLECP16		11986327, 18629938	Standard	NR_002825		Approved	Siglec-P16	uc002prf.3	A6NMB1	OTTHUMG00000183074		19.37:g.50473221T>C														0	222	+									RNA	SNP	ENST00000602139.1	37			.	.	.	.	.	.	.	.	.	.	T	0.001	-3.498236	0.00010	.	.	ENSG00000161643	ENST00000417280;ENST00000456956	.	.	.	1.92	-3.85	0.04243	.	1.955520	0.02343	N	0.075085	T	0.10594	0.0259	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.24584	-1.0156	5	0.06625	T	0.88	.	0.872	0.01216	0.1596:0.2304:0.3802:0.2299	rs440731	.	.	.	R	77;65	.	ENSP00000396157:W77R	W	+	1	0	SIGLEC16	55165033	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.343000	0.01099	-5.206000	0.00019	-3.107000	0.00063	TGG		0.602	SIGLEC16-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000464979.1	NR_002825		5	33	0	0	0	1	0	5	33				
COL8A2	1296	broad.mit.edu	37	1	36563947	36563947	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DJ-A4UR-01A-11D-A257-08	TCGA-DJ-A4UR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96322657-d1a7-41c1-bdf0-24497e508a24	87d1c17c-cf0f-439f-bf79-1e3a6e092738	g.chr1:36563947delC	ENST00000397799.1	-	4	1559	c.1335delG	c.(1333-1335)gggfs	p.G445fs	COL8A2_ENST00000481785.1_Frame_Shift_Del_p.G380fs|COL8A2_ENST00000303143.4_Frame_Shift_Del_p.G445fs			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	445	Triple-helical region.				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CACCTTTCTGCCCCAGGGCTC	0.692																																						ENST00000397799.1																			0				NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1333-1335)ggfs		collagen, type VIII, alpha 2							4.0	5.0	5.0					1																	36563947		2096	4133	6229	SO:0001589	frameshift_variant	1296				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr1:36563947delC	M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"""Collagens"""	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.1335delG	1.37:g.36563947delC	ENSP00000380901:p.Gly445fs					COL8A2_ENST00000481785.1_Frame_Shift_Del_p.G380fs|COL8A2_ENST00000303143.4_Frame_Shift_Del_p.G445fs	p.G445fs			P25067	CO8A2_HUMAN			4	1559	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	445			Triple-helical region.		Q5JV31|Q8TEJ5	Frame_Shift_Del	DEL	ENST00000397799.1	37	c.1335delG	CCDS403.1																																																																																				0.692	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1	NM_005202		2	4						2	4	---	---	---	---
USP2-AS1	100499227	broad.mit.edu	37	11	119274142	119274142	+	RNA	DEL	T	T	-	rs5795179|rs397742762	byFrequency	TCGA-DJ-A4UR-01A-11D-A257-08	TCGA-DJ-A4UR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96322657-d1a7-41c1-bdf0-24497e508a24	87d1c17c-cf0f-439f-bf79-1e3a6e092738	g.chr11:119274142delT	ENST00000498979.2	+	0	273				USP2-AS1_ENST00000500970.1_RNA|USP2-AS1_ENST00000530002.1_RNA|USP2-AS1_ENST00000578923.1_RNA|USP2-AS1_ENST00000577297.1_RNA	NR_034160.1				USP2 antisense RNA 1 (head to head)																		AGTGTTTAAGttttttttttt	0.343													|||unknown(HR)	2883	0.575679	0.5416	0.5922	5008	,	,		20513	0.6508		0.5368	False		,,,				2504	0.5726					ENST00000498979.2																			0																																																			0							g.chr11:119274142delT			11q23.3	2013-06-06			ENSG00000245248	ENSG00000245248		"""Long non-coding RNAs"""	48673	non-coding RNA	RNA, long non-coding							Standard	NR_034160		Approved	THY1-AS1			OTTHUMG00000166173		11.37:g.119274142delT						USP2-AS1_ENST00000578923.1_RNA|USP2-AS1_ENST00000500970.1_RNA|USP2-AS1_ENST00000577297.1_RNA|USP2-AS1_ENST00000530002.1_RNA		NR_034160.1						0	273	+									RNA	DEL	ENST00000498979.2	37																																																																																						0.343	USP2-AS1-001	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000388222.2			3	5						3	5	---	---	---	---
HAGHL	84264	broad.mit.edu	37	16	778954	778954	+	Frame_Shift_Del	DEL	T	T	-	rs368040005		TCGA-DJ-A4UR-01A-11D-A257-08	TCGA-DJ-A4UR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96322657-d1a7-41c1-bdf0-24497e508a24	87d1c17c-cf0f-439f-bf79-1e3a6e092738	g.chr16:778954delT	ENST00000341413.4	+	7	940	c.659delT	c.(658-660)gtgfs	p.V220fs	HAGHL_ENST00000389703.3_Intron|HAGHL_ENST00000564545.1_3'UTR|HAGHL_ENST00000549114.1_3'UTR|NARFL_ENST00000562862.1_5'Flank|HAGHL_ENST00000564537.1_3'UTR|HAGHL_ENST00000561546.1_Intron|CCDC78_ENST00000293889.6_5'Flank			Q6PII5	HAGHL_HUMAN	hydroxyacylglutathione hydrolase-like	220							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			lung(3)	3		Hepatocellular(780;0.00335)				GGCTTCGGGGTGGGGGGGGCT	0.672																																					Pancreas(46;538 1326 12403 32360)	ENST00000341413.4																			0				lung(3)	3						c.(658-660)ggfs		hydroxyacylglutathione hydrolase-like							6.0	7.0	7.0					16																	778954		2102	4190	6292	SO:0001589	frameshift_variant	84264						hydrolase activity|metal ion binding	g.chr16:778954delT	AK054841	CCDS32354.1	16p13.3	2008-02-05	2003-11-04						14177	protein-coding gene	gene with protein product			"""hydroxyacyl glutathione hydrolase-like"""			12477932	Standard	XM_005255629		Approved	MGC2605	uc002cjo.1	Q6PII5		ENST00000341413.4:c.659delT	16.37:g.778954delT	ENSP00000341952:p.Val220fs					HAGHL_ENST00000564545.1_3'UTR|HAGHL_ENST00000564537.1_3'UTR|HAGHL_ENST00000389703.3_Intron|HAGHL_ENST00000549114.1_3'UTR|HAGHL_ENST00000561546.1_Intron	p.V220fs			Q6PII5	HAGHL_HUMAN			7	940	+		Hepatocellular(780;0.00335)	220					A6NCC4|D3DU64|Q59FX8|Q96BZ3|Q96NR5|Q96S11|Q9BT45	Frame_Shift_Del	DEL	ENST00000341413.4	37	c.659delT																																																																																					0.672	HAGHL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409607.1	NM_032304		2	4						2	4	---	---	---	---
