#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SPTA1	6708	broad.mit.edu	37	1	158626393	158626393	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr1:158626393G>C	ENST00000368147.4	-	20	3039	c.2859C>G	c.(2857-2859)gaC>gaG	p.D953E		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	953					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.D953E(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTTTCATACTGTCTCCAAATG	0.413																																						ENST00000368147.4																			1	Substitution - Missense(1)	p.D953E(1)	prostate(1)	NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(2857-2859)gaC>gaG		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							169.0	172.0	171.0					1																	158626393		1854	4088	5942	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158626393G>C	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2859C>G	1.37:g.158626393G>C	ENSP00000357129:p.Asp953Glu		Somatic					p.D953E	NM_003126.2	NP_003117.2	WXS	Illumina GAIIx	Phase_I	P02549	SPTA1_HUMAN			20	3039	-	all_hematologic(112;0.0378)							Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.2859C>G	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292039	0.40594	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.64618	-0.11;-0.11	5.5	-0.31	0.12765	.	0.230977	0.22077	N	0.064944	T	0.12987	0.0315	N	0.11560	0.145	0.28159	N	0.929082	B	0.10296	0.003	B	0.19946	0.027	T	0.32719	-0.9896	10	0.08599	T	0.76	.	6.082	0.19946	0.1474:0.0:0.4682:0.3844	.	953	P02549	SPTA1_HUMAN	E	953	ENSP00000357130:D953E;ENSP00000357129:D953E	ENSP00000357129:D953E	D	-	3	2	SPTA1	156893017	0.999000	0.42202	0.874000	0.34290	0.622000	0.37654	0.345000	0.19979	-0.191000	0.10448	-0.274000	0.10170	GAC		0.413	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		71	181	71	181	---	---	---	---
ASTN1	460	broad.mit.edu	37	1	177001717	177001717	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr1:177001717G>C	ENST00000367654.3	-	3	951	c.740C>G	c.(739-741)aCt>aGt	p.T247S	ASTN1_ENST00000361833.2_Missense_Mutation_p.T247S|ASTN1_ENST00000367657.3_Missense_Mutation_p.T247S|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.T247S	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	247					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.T247S(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCGCAGATCAGTGATGTCATA	0.622																																						ENST00000367654.3																			1	Substitution - Missense(1)	p.T247S(1)	prostate(1)	NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(739-741)aCt>aGt		astrotactin 1							155.0	112.0	127.0					1																	177001717		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:177001717G>C	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.740C>G	1.37:g.177001717G>C	ENSP00000356626:p.Thr247Ser		Somatic				ASTN1_ENST00000367657.3_Missense_Mutation_p.T247S|ASTN1_ENST00000361833.2_Missense_Mutation_p.T247S|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.T247S	p.T247S	NM_004319.1	NP_004310.1	WXS	Illumina GAIIx	Phase_I	O14525	ASTN1_HUMAN			3	951	-								A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.740C>G		.	.	.	.	.	.	.	.	.	.	G	18.06	3.538728	0.65085	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.14516	2.5;2.91;2.91;2.5	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.25158	0.0611	N	0.24115	0.695	0.80722	D	1	D;D;D	0.71674	0.998;0.974;0.974	D;D;D	0.76071	0.987;0.969;0.969	T	0.03524	-1.1028	10	0.24483	T	0.36	-11.234	19.2616	0.93970	0.0:0.0:1.0:0.0	.	247;247;247	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	S	247	ENSP00000356629:T247S;ENSP00000354536:T247S;ENSP00000356626:T247S;ENSP00000395041:T247S	ENSP00000354536:T247S	T	-	2	0	ASTN1	175268340	1.000000	0.71417	0.957000	0.39632	0.979000	0.70002	9.021000	0.93673	2.614000	0.88457	0.655000	0.94253	ACT		0.622	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		18	106	18	106	---	---	---	---
UQCRC1	7384	broad.mit.edu	37	3	48638151	48638151	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr3:48638151C>T	ENST00000203407.5	-	9	1505	c.1089G>A	c.(1087-1089)atG>atA	p.M363I		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	363					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to alkaloid (GO:0043279)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)	p.M363I(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CATCGATTTTCATTCGGTCAC	0.542																																					NSCLC(81;1112 1427 27031 32409 45529)	ENST00000203407.5																			1	Substitution - Missense(1)	p.M363I(1)	prostate(1)	breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16						c.(1087-1089)atG>atA		ubiquinol-cytochrome c reductase core protein I	Atovaquone(DB01117)						111.0	98.0	102.0					3																	48638151		2203	4300	6503	SO:0001583	missense	7384				aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding	g.chr3:48638151C>T	BC009586	CCDS2774.1	3p21	2011-07-04			ENSG00000010256	ENSG00000010256	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12585	protein-coding gene	gene with protein product		191328				8407948	Standard	NM_003365		Approved	D3S3191, QCR1, UQCR1	uc003cub.1	P31930	OTTHUMG00000133539	ENST00000203407.5:c.1089G>A	3.37:g.48638151C>T	ENSP00000203407:p.Met363Ile		Somatic					p.M363I	NM_003365.2	NP_003356.2	WXS	Illumina GAIIx	Phase_I	P31930	QCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	9	1505	-			363					B2R7R8|Q96DD2	Missense_Mutation	SNP	ENST00000203407.5	37	c.1089G>A	CCDS2774.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.830253	0.32329	.	.	ENSG00000010256	ENST00000203407	T	0.28895	1.59	5.72	5.72	0.89469	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.180517	0.64402	D	0.000015	T	0.31949	0.0813	L	0.53617	1.68	0.31040	N	0.71647	B;B	0.16603	0.01;0.018	B;B	0.21360	0.034;0.008	T	0.17806	-1.0357	10	0.33141	T	0.24	-44.8454	15.3694	0.74551	0.0:0.8611:0.1389:0.0	.	248;363	B4DUL5;P31930	.;QCR1_HUMAN	I	363	ENSP00000203407:M363I	ENSP00000203407:M363I	M	-	3	0	UQCRC1	48613155	0.989000	0.36119	0.874000	0.34290	0.851000	0.48451	2.474000	0.45154	2.709000	0.92574	0.561000	0.74099	ATG		0.542	UQCRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257517.1	NM_003365		14	92	14	92	---	---	---	---
PPARGC1B	133522	broad.mit.edu	37	5	149212486	149212486	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr5:149212486A>T	ENST00000309241.5	+	5	882	c.850A>T	c.(850-852)Atg>Ttg	p.M284L	PPARGC1B_ENST00000403750.1_Missense_Mutation_p.M220L|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.M284L|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.M245L	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	284					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)	p.M284L(2)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCAGGAAGACATGCAGGCGAT	0.672																																						ENST00000309241.5																			2	Substitution - Missense(2)	p.M284L(2)	prostate(2)	NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(850-852)Atg>Ttg		peroxisome proliferator-activated receptor gamma, coactivator 1 beta							47.0	57.0	53.0					5																	149212486		2203	4300	6503	SO:0001583	missense	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149212486A>T	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.850A>T	5.37:g.149212486A>T	ENSP00000312649:p.Met284Leu		Somatic				PPARGC1B_ENST00000360453.4_Missense_Mutation_p.M245L|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.M220L|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.M284L	p.M284L	NM_133263.3	NP_573570.3	WXS	Illumina GAIIx	Phase_I	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		5	882	+			284					A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	ENST00000309241.5	37	c.850A>T	CCDS4298.1	.	.	.	.	.	.	.	.	.	.	A	3.681	-0.065610	0.07273	.	.	ENSG00000155846	ENST00000360453;ENST00000394320;ENST00000309241;ENST00000403750	T;T;T;T	0.06768	3.26;3.28;3.29;3.26	5.76	3.5	0.40072	.	0.365715	0.29861	N	0.011016	T	0.04543	0.0124	L	0.27053	0.805	0.20563	N	0.99989	B;B;B;B;B	0.10296	0.001;0.003;0.001;0.001;0.003	B;B;B;B;B	0.09377	0.002;0.003;0.004;0.001;0.002	T	0.45702	-0.9243	10	0.07813	T	0.8	-3.4708	4.7279	0.12950	0.5455:0.2237:0.2308:0.0	.	263;263;245;284;284	Q86YN6-2;Q86YN6-4;Q86YN6-5;Q86YN6;Q86YN6-3	.;.;.;PRGC2_HUMAN;.	L	245;284;284;220	ENSP00000353638:M245L;ENSP00000377855:M284L;ENSP00000312649:M284L;ENSP00000384403:M220L	ENSP00000312649:M284L	M	+	1	0	PPARGC1B	149192679	0.769000	0.28531	1.000000	0.80357	0.371000	0.29859	-0.081000	0.11321	0.495000	0.27882	0.533000	0.62120	ATG		0.672	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		31	87	31	87	---	---	---	---
SLC26A2	1836	broad.mit.edu	37	5	149360521	149360521	+	Silent	SNP	T	T	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr5:149360521T>A	ENST00000286298.4	+	3	1633	c.1365T>A	c.(1363-1365)ctT>ctA	p.L455L		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	455					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.L455L(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ATACTCAGCTTTCTGGTGTGG	0.418																																						ENST00000286298.4																			1	Substitution - coding silent(1)	p.L455L(1)	prostate(1)	NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18						c.(1363-1365)ctT>ctA		solute carrier family 26 (anion exchanger), member 2							105.0	103.0	104.0					5																	149360521		2203	4300	6503	SO:0001819	synonymous_variant	1836					integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity	g.chr5:149360521T>A	U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"""Solute carriers"""	10994	protein-coding gene	gene with protein product		606718	"""solute carrier family 26 (sulfate transporter), member 2"""	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.1365T>A	5.37:g.149360521T>A			Somatic					p.L455L	NM_000112.3	NP_000103.2	WXS	Illumina GAIIx	Phase_I	P50443	S26A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		3	1633	+			455					A8K2U3|B2R6J1|Q6N051	Silent	SNP	ENST00000286298.4	37	c.1365T>A	CCDS4300.1																																																																																				0.418	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252333.2	NM_000112		39	92	39	92	---	---	---	---
NKAPL	222698	broad.mit.edu	37	6	28227527	28227527	+	Silent	SNP	G	G	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr6:28227527G>A	ENST00000343684.3	+	1	430	c.378G>A	c.(376-378)gaG>gaA	p.E126E	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	126								p.E126E(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						AGGAGAGAGAGAGGATTGGGG	0.542																																						ENST00000343684.3																			1	Substitution - coding silent(1)	p.E126E(1)	prostate(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(376-378)gaG>gaA		NFKB activating protein-like							91.0	97.0	95.0					6																	28227527		2203	4300	6503	SO:0001819	synonymous_variant	222698							g.chr6:28227527G>A	BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 194"""	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.378G>A	6.37:g.28227527G>A			Somatic					p.E126E	NM_001007531.1	NP_001007532.1	WXS	Illumina GAIIx	Phase_I	Q5M9Q1	NKAPL_HUMAN			1	430	+			126					Q3MIV1|Q9H4Q7	Silent	SNP	ENST00000343684.3	37	c.378G>A	CCDS34353.1																																																																																				0.542	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1			38	73	38	73	---	---	---	---
WNT2	7472	broad.mit.edu	37	7	116937778	116937778	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr7:116937778G>C	ENST00000265441.3	-	4	1040	c.741C>G	c.(739-741)aaC>aaG	p.N247K		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	247					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)	p.N247K(1)		breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TGCCATCCTGGTTCATGACCA	0.498																																						ENST00000265441.3																			1	Substitution - Missense(1)	p.N247K(1)	prostate(1)	breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31						c.(739-741)aaC>aaG		wingless-type MMTV integration site family member 2							110.0	99.0	103.0					7																	116937778		2203	4300	6503	SO:0001583	missense	7472				atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	g.chr7:116937778G>C	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12780	protein-coding gene	gene with protein product	"""secreted growth factor"""	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.741C>G	7.37:g.116937778G>C	ENSP00000265441:p.Asn247Lys		Somatic					p.N247K	NM_003391.2	NP_003382.1	WXS	Illumina GAIIx	Phase_I	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	4	1040	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		247					A4D0V1|Q75N05|Q9UDP9	Missense_Mutation	SNP	ENST00000265441.3	37	c.741C>G	CCDS5771.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.597133	0.46318	.	.	ENSG00000105989	ENST00000265441	T	0.74842	-0.88	5.58	1.16	0.20824	.	0.085891	0.85682	N	0.000000	T	0.58764	0.2145	L	0.39514	1.22	0.51012	D	0.999909	B;B	0.25048	0.117;0.117	B;B	0.24006	0.05;0.05	T	0.49799	-0.8901	10	0.44086	T	0.13	.	4.1182	0.10092	0.3382:0.0:0.4969:0.1648	.	247;247	A4D0V1;P09544	.;WNT2_HUMAN	K	247	ENSP00000265441:N247K	ENSP00000265441:N247K	N	-	3	2	WNT2	116725014	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.903000	0.39858	0.398000	0.25338	0.561000	0.74099	AAC		0.498	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391		61	120	61	120	---	---	---	---
PRSS58	136541	broad.mit.edu	37	7	141955370	141955370	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr7:141955370G>A	ENST00000552471.1	-	2	483	c.164C>T	c.(163-165)gCa>gTa	p.A55V	PRSS58_ENST00000547058.2_Missense_Mutation_p.A55V			Q8IYP2	PRS58_HUMAN	protease, serine, 58	55	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.A55V(2)		kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						ATTGCAGTGTGCAGCTGTGAT	0.522																																						ENST00000552471.1																			2	Substitution - Missense(2)	p.A55V(2)	prostate(2)	kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						c.(163-165)gCa>gTa		protease, serine, 58							80.0	78.0	78.0					7																	141955370		2203	4300	6503	SO:0001583	missense	136541				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141955370G>A		CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"""Serine peptidases / Serine peptidases"""	39125	protein-coding gene	gene with protein product	"""trypsin X3"""						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.164C>T	7.37:g.141955370G>A	ENSP00000446916:p.Ala55Val		Somatic				PRSS58_ENST00000547058.2_Missense_Mutation_p.A55V	p.A55V			WXS	Illumina GAIIx	Phase_I	Q8IYP2	PRS58_HUMAN			2	483	-			55			Peptidase S1.		B3KVJ6|D3DXD2	Missense_Mutation	SNP	ENST00000552471.1	37	c.164C>T	CCDS5871.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.837103	0.91117	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	D;D	0.89746	-2.56;-2.56	5.19	5.19	0.71726	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.96796	0.8954	H	0.98446	4.235	0.44515	D	0.99746	D	0.89917	1.0	D	0.81914	0.995	D	0.98048	1.0386	9	0.87932	D	0	.	16.2693	0.82607	0.0:0.0:1.0:0.0	.	55	Q8IYP2	PRS58_HUMAN	V	55	ENSP00000447588:A55V;ENSP00000446916:A55V	ENSP00000307206:A55V	A	-	2	0	PRSS58	141601847	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	5.874000	0.69652	2.711000	0.92665	0.655000	0.94253	GCA		0.522	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317		33	78	33	78	---	---	---	---
C10orf71	118461	broad.mit.edu	37	10	50531524	50531524	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr10:50531524C>A	ENST00000374144.3	+	3	1222	c.934C>A	c.(934-936)Cta>Ata	p.L312I	C10orf71_ENST00000323868.4_Missense_Mutation_p.L312I			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	312								p.L312I(2)		endometrium(1)	1						CACGACCTTGCTAAGAGAACC	0.577																																						ENST00000374144.3																			2	Substitution - Missense(2)	p.L312I(2)	prostate(2)	endometrium(1)	1						c.(934-936)Cta>Ata		chromosome 10 open reading frame 71							68.0	76.0	74.0					10																	50531524		2055	4201	6256	SO:0001583	missense	118461							g.chr10:50531524C>A	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.934C>A	10.37:g.50531524C>A	ENSP00000363259:p.Leu312Ile		Somatic				C10orf71_ENST00000323868.4_Missense_Mutation_p.L312I	p.L312I			WXS	Illumina GAIIx	Phase_I	Q711Q0	CJ071_HUMAN			3	1222	+			312					A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	c.934C>A	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	C	7.549	0.662270	0.14645	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.16457	2.34;3.46	5.25	-5.58	0.02512	.	0.756374	0.10602	N	0.655547	T	0.11196	0.0273	L	0.59436	1.845	0.09310	N	1	B	0.32753	0.383	B	0.28849	0.095	T	0.19192	-1.0313	10	0.23302	T	0.38	.	3.587	0.07974	0.0891:0.1827:0.2653:0.4628	.	312	Q711Q0-3	.	I	312	ENSP00000318713:L312I;ENSP00000363259:L312I	ENSP00000318713:L312I	L	+	1	2	C10orf71	50201530	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.901000	0.01597	-1.284000	0.02390	-0.258000	0.10820	CTA		0.577	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		3	65	3	65	---	---	---	---
FOLH1	2346	broad.mit.edu	37	11	49168464	49168464	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr11:49168464C>G	ENST00000256999.2	-	19	2357	c.2097G>C	c.(2095-2097)aaG>aaC	p.K699N	FOLH1_ENST00000343844.4_Missense_Mutation_p.K391N|FOLH1_ENST00000356696.3_Missense_Mutation_p.K668N|FOLH1_ENST00000340334.7_Missense_Mutation_p.K684N|FOLH1_ENST00000533034.1_Missense_Mutation_p.K653N	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	699	Substrate binding.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	CCCCTGCATACTTGTTGTGGC	0.428																																						ENST00000340334.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60						c.(2050-2052)aaG>aaC		folate hydrolase (prostate-specific membrane antigen) 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						116.0	113.0	114.0					11																	49168464		2200	4278	6478	SO:0001583	missense	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49168464C>G	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.2097G>C	11.37:g.49168464C>G	ENSP00000256999:p.Lys699Asn		Somatic				FOLH1_ENST00000343844.4_Missense_Mutation_p.K391N|FOLH1_ENST00000533034.1_Missense_Mutation_p.K653N|FOLH1_ENST00000256999.2_Missense_Mutation_p.K699N|FOLH1_ENST00000356696.3_Missense_Mutation_p.K668N	p.K684N	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	WXS	Illumina GAIIx	Phase_I	Q04609	FOLH1_HUMAN			20	2420	-			699					A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	c.2052G>C	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.981238	0.53827	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000343844;ENST00000533034	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	3.26	0.534	0.17127	Transferrin receptor-like, dimerisation domain (3);	0.000000	0.47093	U	0.000256	T	0.48607	0.1509	M	0.80746	2.51	0.58432	D	0.999992	D;D;P;D	0.89917	1.0;1.0;0.86;1.0	D;D;B;D	0.87578	0.996;0.994;0.43;0.998	T	0.40156	-0.9578	10	0.30854	T	0.27	.	6.6491	0.22951	0.0:0.6398:0.0:0.3602	.	653;684;668;699	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	N	699;668;684;391;653	ENSP00000256999:K699N;ENSP00000349129:K668N;ENSP00000344131:K684N;ENSP00000344086:K391N;ENSP00000431463:K653N	ENSP00000256999:K699N	K	-	3	2	FOLH1	49125040	0.986000	0.35501	0.989000	0.46669	0.987000	0.75469	0.137000	0.15995	0.214000	0.20742	0.609000	0.83330	AAG		0.428	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		4	205	4	205	---	---	---	---
OR4C13	283092	broad.mit.edu	37	11	49974537	49974537	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr11:49974537C>T	ENST00000555099.1	+	1	595	c.563C>T	c.(562-564)aCt>aTt	p.T188I		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T188I(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						CTTGCCTGCACTAATACCCAC	0.438																																						ENST00000555099.1																			1	Substitution - Missense(1)	p.T188I(1)	prostate(1)	autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						c.(562-564)aCt>aTt		olfactory receptor, family 4, subfamily C, member 13							228.0	202.0	211.0					11																	49974537		2201	4296	6497	SO:0001583	missense	283092				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:49974537C>T	AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"""GPCR / Class A : Olfactory receptors"""	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.563C>T	11.37:g.49974537C>T	ENSP00000452277:p.Thr188Ile		Somatic					p.T188I	NM_001001955.2	NP_001001955.2	WXS	Illumina GAIIx	Phase_I	Q8NGP0	OR4CD_HUMAN			1	595	+			188					A6NJJ3|B9EH30|Q6IF48|Q96R68	Missense_Mutation	SNP	ENST00000555099.1	37	c.563C>T	CCDS31495.1	.	.	.	.	.	.	.	.	.	.	.	3.627	-0.076422	0.07184	.	.	ENSG00000258817	ENST00000555099	T	0.00164	8.64	2.7	1.76	0.24704	GPCR, rhodopsin-like superfamily (1);	0.683159	0.12817	N	0.436747	T	0.00144	0.0004	L	0.48218	1.51	0.24075	N	0.995968	B	0.20550	0.046	B	0.32022	0.139	T	0.22103	-1.0226	9	.	.	.	.	2.8707	0.05616	0.2778:0.5648:0.0:0.1574	.	188	Q8NGP0	OR4CD_HUMAN	I	188	ENSP00000452277:T188I	.	T	+	2	0	OR4C13	49931113	0.000000	0.05858	0.996000	0.52242	0.076000	0.17211	-0.097000	0.11042	1.524000	0.49035	0.186000	0.17326	ACT		0.438	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		73	202	73	202	---	---	---	---
MYO7A	4647	broad.mit.edu	37	11	76868351	76868351	+	Silent	SNP	G	G	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr11:76868351G>A	ENST00000409709.3	+	8	1034	c.762G>A	c.(760-762)gtG>gtA	p.V254V	MYO7A_ENST00000409893.1_Silent_p.V254V|MYO7A_ENST00000409619.2_Silent_p.V243V|MYO7A_ENST00000458637.2_Silent_p.V254V	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	254	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)	p.V254V(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACTACCACGTGTTCTACTGCA	0.582																																						ENST00000409709.3																			1	Substitution - coding silent(1)	p.V254V(1)	prostate(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(760-762)gtG>gtA		myosin VIIA							74.0	83.0	80.0					11																	76868351		1960	4132	6092	SO:0001819	synonymous_variant	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76868351G>A	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.762G>A	11.37:g.76868351G>A			Somatic				MYO7A_ENST00000409619.2_Silent_p.V243V|MYO7A_ENST00000458637.2_Silent_p.V254V|MYO7A_ENST00000409893.1_Silent_p.V254V	p.V254V	NM_000260.3	NP_000251.3	WXS	Illumina GAIIx	Phase_I	Q13402	MYO7A_HUMAN			8	1034	+			254			Myosin head-like.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	ENST00000409709.3	37	c.762G>A	CCDS53683.1																																																																																				0.582	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		11	14	11	14	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6172165	6172165	+	Silent	SNP	C	C	T			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr12:6172165C>T	ENST00000261405.5	-	13	1742	c.1488G>A	c.(1486-1488)gaG>gaA	p.E496E		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	496	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.E496E(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCTGCAGGTCCTCCCCGTAGC	0.657											OREG0021618	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000261405.5																			1	Substitution - coding silent(1)	p.E496E(1)	prostate(1)	NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(1486-1488)gaG>gaA		von Willebrand factor	Antihemophilic Factor(DB00025)						55.0	45.0	48.0					12																	6172165		2203	4300	6503	SO:0001819	synonymous_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6172165C>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.1488G>A	12.37:g.6172165C>T			Somatic	OREG0021618	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	632		p.E496E	NM_000552.3	NP_000543	WXS	Illumina GAIIx	Phase_I	P04275	VWF_HUMAN			13	1742	-			496			VWFD 2.		Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	c.1488G>A	CCDS8539.1																																																																																				0.657	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		8	21	8	21	---	---	---	---
NAA25	80018	broad.mit.edu	37	12	112516059	112516059	+	Silent	SNP	A	A	G			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr12:112516059A>G	ENST00000261745.4	-	7	845	c.597T>C	c.(595-597)taT>taC	p.Y199Y		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	199						cytoplasm (GO:0005737)		p.Y199Y(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						GGATCATATAATAAAGTTCAA	0.299																																						ENST00000261745.4																			1	Substitution - coding silent(1)	p.Y199Y(1)	prostate(1)	autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						c.(595-597)taT>taC		N(alpha)-acetyltransferase 25, NatB auxiliary subunit							54.0	57.0	56.0					12																	112516059		2202	4296	6498	SO:0001819	synonymous_variant	80018					cytoplasm	protein binding	g.chr12:112516059A>G	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.597T>C	12.37:g.112516059A>G			Somatic					p.Y199Y	NM_024953.3	NP_079229.2	WXS	Illumina GAIIx	Phase_I	Q14CX7	NAA25_HUMAN			7	845	-			199					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Silent	SNP	ENST00000261745.4	37	c.597T>C	CCDS9159.1																																																																																				0.299	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		7	163	7	163	---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48736776	48736776	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr15:48736776C>A	ENST00000316623.5	-	49	6454	c.5999G>T	c.(5998-6000)tGc>tTc	p.C2000F		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2000	EGF-like 34; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.C2000F(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCCAGGTGGGCAAATGCATCT	0.433																																						ENST00000316623.5																			1	Substitution - Missense(1)	p.C2000F(1)	prostate(1)	NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139	GRCh37	CM077270	FBN1	M		c.(5998-6000)tGc>tTc		fibrillin 1							159.0	146.0	150.0					15																	48736776		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48736776C>A	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.5999G>T	15.37:g.48736776C>A	ENSP00000325527:p.Cys2000Phe		Somatic					p.C2000F	NM_000138.4	NP_000129	WXS	Illumina GAIIx	Phase_I	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	49	6454	-		all_lung(180;0.00279)	2000			EGF-like 34; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.5999G>T	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011800	0.93346	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	D	0.99319	-5.74	6.07	6.07	0.98685	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99536	0.9834	H	0.99312	4.51	0.80722	D	1	P	0.50369	0.934	P	0.47206	0.541	D	0.98521	1.0623	10	0.87932	D	0	.	20.2544	0.98414	0.0:1.0:0.0:0.0	.	2000	P35555	FBN1_HUMAN	F	2000;568;890	ENSP00000325527:C2000F	ENSP00000325527:C2000F	C	-	2	0	FBN1	46524068	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.349000	0.79376	2.885000	0.99019	0.655000	0.94253	TGC		0.433	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			58	118	58	118	---	---	---	---
DMXL2	23312	broad.mit.edu	37	15	51855614	51855614	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr15:51855614C>T	ENST00000251076.5	-	6	818	c.531G>A	c.(529-531)tgG>tgA	p.W177*	DMXL2_ENST00000543779.2_Nonsense_Mutation_p.W177*|DMXL2_ENST00000560421.1_5'UTR|DMXL2_ENST00000449909.3_Nonsense_Mutation_p.W177*	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	177						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.W177*(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CATCAGGAGACCATTCCATCA	0.308																																						ENST00000251076.5																			1	Substitution - Nonsense(1)	p.W177*(1)	prostate(1)	breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(529-531)tgG>tgA		Dmx-like 2							70.0	67.0	68.0					15																	51855614		2195	4291	6486	SO:0001587	stop_gained	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51855614C>T	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.531G>A	15.37:g.51855614C>T	ENSP00000251076:p.Trp177*		Somatic				DMXL2_ENST00000543779.2_Nonsense_Mutation_p.W177*|DMXL2_ENST00000560421.1_5'UTR|DMXL2_ENST00000449909.3_Nonsense_Mutation_p.W177*	p.W177*	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	WXS	Illumina GAIIx	Phase_I	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	6	818	-			177					B2RTR3|B7ZMH3|F5GWF1|O94938	Nonsense_Mutation	SNP	ENST00000251076.5	37	c.531G>A	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	36	5.597826	0.96602	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	18.8915	0.92406	0.0:1.0:0.0:0.0	.	.	.	.	X	177	.	ENSP00000251076:W177X	W	-	3	0	DMXL2	49642906	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.512000	0.60469	2.796000	0.96246	0.585000	0.79938	TGG		0.308	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		3	72	3	72	---	---	---	---
USP22	23326	broad.mit.edu	37	17	20910262	20910262	+	Silent	SNP	G	G	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr17:20910262G>A	ENST00000261497.4	-	10	1472	c.1269C>T	c.(1267-1269)acC>acT	p.T423T	USP22_ENST00000537526.2_Silent_p.T411T|USP22_ENST00000455117.2_Intron	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	423	USP.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|embryo development (GO:0009790)|histone deubiquitination (GO:0016578)|histone H4 acetylation (GO:0043967)|histone ubiquitination (GO:0016574)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deubiquitination (GO:0016579)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	SAGA complex (GO:0000124)	enzyme binding (GO:0019899)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|transcription coactivator activity (GO:0003713)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.T645T(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						ACACATACGTGGTGATCTTCC	0.547																																						ENST00000261497.4																			1	Substitution - coding silent(1)	p.T645T(1)	prostate(1)	endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						c.(1267-1269)acC>acT		ubiquitin specific peptidase 22							40.0	42.0	42.0					17																	20910262		1942	4144	6086	SO:0001819	synonymous_variant	23326				cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr17:20910262G>A	AB028986	CCDS42285.1	17p11.2	2006-11-24	2005-08-08		ENSG00000124422	ENSG00000124422		"""Ubiquitin-specific peptidases"""	12621	protein-coding gene	gene with protein product		612116	"""ubiquitin specific protease 22"", ""ubiquitin specific peptidase 3-like"""	USP3L		12838346	Standard	NM_015276		Approved	KIAA1063	uc002gym.4	Q9UPT9	OTTHUMG00000133621	ENST00000261497.4:c.1269C>T	17.37:g.20910262G>A			Somatic				USP22_ENST00000455117.2_Intron|USP22_ENST00000537526.2_Silent_p.T411T	p.T423T	NM_015276.1	NP_056091.1	WXS	Illumina GAIIx	Phase_I	Q9UPT9	UBP22_HUMAN			10	1472	-			423					A0JNS3|Q2NLE2|Q6MZY4|Q8TBS8|Q96IW5	Silent	SNP	ENST00000261497.4	37	c.1269C>T	CCDS42285.1																																																																																				0.547	USP22-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444169.1			4	25	4	25	---	---	---	---
ST6GALNAC2	10610	broad.mit.edu	37	17	74562331	74562331	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr17:74562331G>A	ENST00000225276.5	-	9	1299	c.980C>T	c.(979-981)aCa>aTa	p.T327I		NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	327					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)	p.T327I(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						GTAGTTGCTTGTGATGAATCC	0.448																																						ENST00000225276.5																			1	Substitution - Missense(1)	p.T327I(1)	prostate(1)	NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						c.(979-981)aCa>aTa		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2							159.0	146.0	151.0					17																	74562331		2203	4300	6503	SO:0001583	missense	10610				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr17:74562331G>A	U14550	CCDS11747.1	17q25.1	2013-03-01	2003-12-05	2005-02-07	ENSG00000070731	ENSG00000070731	2.4.99.7	"""Sialyltransferases"""	10867	protein-coding gene	gene with protein product		610137	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)"", ""sialyltransferase-like 1"""	SIAT7, SIAT7B, SIATL1		11984005	Standard	NM_006456		Approved	ST6GalNAII, STHM	uc002jsg.4	Q9UJ37	OTTHUMG00000180301	ENST00000225276.5:c.980C>T	17.37:g.74562331G>A	ENSP00000225276:p.Thr327Ile		Somatic					p.T327I	NM_006456.2	NP_006447.2	WXS	Illumina GAIIx	Phase_I	Q9UJ37	SIA7B_HUMAN			9	1299	-			327					Q12971	Missense_Mutation	SNP	ENST00000225276.5	37	c.980C>T	CCDS11747.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530261	0.85706	.	.	ENSG00000070731	ENST00000225276	T	0.30714	1.52	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.66436	0.2789	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74659	-0.3591	10	0.62326	D	0.03	-12.8339	18.0627	0.89382	0.0:0.0:1.0:0.0	.	327	Q9UJ37	SIA7B_HUMAN	I	327	ENSP00000225276:T327I	ENSP00000225276:T327I	T	-	2	0	ST6GALNAC2	72073926	1.000000	0.71417	0.961000	0.40146	0.841000	0.47740	8.622000	0.90953	2.562000	0.86427	0.655000	0.94253	ACA		0.448	ST6GALNAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450650.1	NM_006456		78	155	78	155	---	---	---	---
LILRB1	10859	broad.mit.edu	37	19	55148263	55148263	+	Silent	SNP	T	T	G			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr19:55148263T>G	ENST00000396331.1	+	16	2244	c.1887T>G	c.(1885-1887)ccT>ccG	p.P629P	LILRB1_ENST00000396327.3_Silent_p.P630P|LILRB1_ENST00000434867.2_Silent_p.P629P|LILRB1_ENST00000396317.1_Silent_p.P613P|LILRB1_ENST00000427581.2_Silent_p.P680P|LILRB1_ENST00000324602.7_Silent_p.P631P|LILRB1_ENST00000396332.4_Silent_p.P630P|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000418536.2_Silent_p.P613P|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000396315.1_Silent_p.P631P|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_Silent_p.P629P	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	629					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAACTGAGCCTCCTCCATCCC	0.652										HNSCC(37;0.09)																												ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(1885-1887)ccT>ccG		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1							99.0	85.0	90.0					19																	55148263		2203	4300	6503	SO:0001819	synonymous_variant	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55148263T>G	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1887T>G	19.37:g.55148263T>G		HNSCC(37;0.09)	Somatic				LILRB1_ENST00000427581.2_Silent_p.P680P|LILRB1_ENST00000324602.7_Silent_p.P631P|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000418536.2_Silent_p.P613P|LILRB1_ENST00000396332.4_Silent_p.P630P|LILRB1_ENST00000434867.2_Silent_p.P629P|LILRB1_ENST00000396327.3_Silent_p.P630P|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396315.1_Silent_p.P631P|LILRB1_ENST00000396321.2_Silent_p.P629P|LILRB1_ENST00000396317.1_Silent_p.P613P	p.P629P	NM_006669.3	NP_006660.3	WXS	Illumina GAIIx	Phase_I	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	16	2244	+			629					A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Silent	SNP	ENST00000396331.1	37	c.1887T>G	CCDS42617.1																																																																																				0.652	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			4	65	4	65	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152329411	152329415	+	Frame_Shift_Del	DEL	TTGCT	TTGCT	-			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr1:152329411_152329415delTTGCT	ENST00000388718.5	-	3	919_923	c.847_851delAGCAA	c.(847-852)agcaatfs	p.SN283fs	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	283	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCACTTGAATTGCTATAACCACAT	0.429																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(847-852)agcaatfs		filaggrin family member 2																																				SO:0001589	frameshift_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152329411_152329415delTTGCT	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.847_851delAGCAA	1.37:g.152329411_152329415delTTGCT	ENSP00000373370:p.Ser283fs		Somatic				FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.SN283fs	NM_001014342.2	NP_001014364.1	WXS	Illumina GAIIx	Phase_I	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	919_923	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		283			Ser-rich.		Q9H4U1	Frame_Shift_Del	DEL	ENST00000388718.5	37	c.847_851delAGCAA	CCDS30861.1																																																																																				0.429	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		78	272	78	272	---	---	---	---
