#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
LRRIQ3	127255	broad.mit.edu	37	1	74492567	74492567	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A2CL-01A-11D-A17V-08	TCGA-EM-A2CL-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ede121e-331f-434e-a551-ffc6fc01ce0b	49a37ba7-1dd0-4758-bcf0-49e779511d7f	g.chr1:74492567T>C	ENST00000395089.1	-	7	1804	c.1805A>G	c.(1804-1806)gAt>gGt	p.D602G	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.D602G			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	602										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TGTTTTAGCATCTTGAAGTCT	0.313																																						ENST00000354431.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						c.(1804-1806)gAt>gGt		leucine-rich repeats and IQ motif containing 3							113.0	102.0	105.0					1																	74492567		1811	4061	5872	SO:0001583	missense	127255							g.chr1:74492567T>C	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1805A>G	1.37:g.74492567T>C	ENSP00000378524:p.Asp602Gly					LRRIQ3_ENST00000395089.1_Missense_Mutation_p.D602G	p.D602G	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN			8	1996	-			602					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	c.1805A>G	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	T	9.898	1.206137	0.22205	.	.	ENSG00000162620	ENST00000395089;ENST00000354431	T;T	0.10860	2.83;2.83	5.05	5.05	0.67936	.	.	.	.	.	T	0.04227	0.0117	N	0.24115	0.695	0.19775	N	0.999958	P	0.45044	0.849	B	0.42798	0.398	T	0.26360	-1.0105	9	0.66056	D	0.02	.	11.7524	0.51855	0.0:0.0:0.0:1.0	.	602	A6PVS8	LRIQ3_HUMAN	G	602	ENSP00000378524:D602G;ENSP00000346414:D602G	ENSP00000346414:D602G	D	-	2	0	LRRIQ3	74265155	0.325000	0.24660	0.726000	0.30738	0.021000	0.10359	2.217000	0.42880	2.203000	0.70933	0.533000	0.62120	GAT		0.313	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		10	18	0	0	0	0.000442599	0	10	18				
BCRP7	100133163	broad.mit.edu	37	22	18845990	18845990	+	3'UTR	SNP	C	C	T	rs200186747		TCGA-EM-A2CL-01A-11D-A17V-08	TCGA-EM-A2CL-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ede121e-331f-434e-a551-ffc6fc01ce0b	49a37ba7-1dd0-4758-bcf0-49e779511d7f	g.chr22:18845990C>T	ENST00000412938.1	+	0	3348																											ACCTCCATCCCGTCCTGCGCA	0.582																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18845990C>T																												ENST00000412938.1:c.*3345C>T	22.37:g.18845990C>T														0	3348	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.582	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			5	33	0	0	0	0.00116845	0	5	33				
SEMA7A	8482	broad.mit.edu	37	15	74708936	74708936	+	Missense_Mutation	SNP	G	G	C	rs368853845		TCGA-EM-A2CL-01A-11D-A17V-08	TCGA-EM-A2CL-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ede121e-331f-434e-a551-ffc6fc01ce0b	49a37ba7-1dd0-4758-bcf0-49e779511d7f	g.chr15:74708936G>C	ENST00000261918.4	-	7	1329	c.781C>G	c.(781-783)Cgt>Ggt	p.R261G	SEMA7A_ENST00000543145.2_Missense_Mutation_p.R247G|SEMA7A_ENST00000542748.1_Missense_Mutation_p.R96G	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	261	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						TGGGCCACACGGGACACATTG	0.557																																						ENST00000261918.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						c.(781-783)Cgt>Ggt		semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)							212.0	175.0	188.0					15																	74708936		2197	4296	6493	SO:0001583	missense	8482				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	g.chr15:74708936G>C	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"""Semaphorins"", ""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10741	protein-coding gene	gene with protein product	"""John Milton Hagen blood group"", ""H-Sema K1"""	607961	"""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A"", ""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"""	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.781C>G	15.37:g.74708936G>C	ENSP00000261918:p.Arg261Gly					SEMA7A_ENST00000542748.1_Missense_Mutation_p.R96G|SEMA7A_ENST00000543145.2_Missense_Mutation_p.R247G	p.R261G	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN			7	1329	-			261			Sema.		B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Missense_Mutation	SNP	ENST00000261918.4	37	c.781C>G	CCDS10262.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669525	0.47677	.	.	ENSG00000138623	ENST00000261918;ENST00000543145;ENST00000542748	T;T;T	0.32272	1.46;1.46;1.46	5.39	4.4	0.53042	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.61689	0.2367	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.70128	-0.4957	10	0.87932	D	0	-16.5352	13.8512	0.63499	0.0:0.0:0.8153:0.1847	.	247;261	F5H1S0;O75326	.;SEM7A_HUMAN	G	261;247;96	ENSP00000261918:R261G;ENSP00000438966:R247G;ENSP00000441493:R96G	ENSP00000261918:R261G	R	-	1	0	SEMA7A	72495989	1.000000	0.71417	0.989000	0.46669	0.151000	0.21798	1.140000	0.31516	2.525000	0.85131	0.655000	0.94253	CGT		0.557	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612		3	62	0	0	0	6.4e-05	0	3	62				
AGL	178	broad.mit.edu	37	1	100327958	100327958	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2CL-01A-11D-A17V-08	TCGA-EM-A2CL-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ede121e-331f-434e-a551-ffc6fc01ce0b	49a37ba7-1dd0-4758-bcf0-49e779511d7f	g.chr1:100327958C>T	ENST00000294724.4	+	4	917	c.439C>T	c.(439-441)Ctt>Ttt	p.L147F	AGL_ENST00000361522.4_Missense_Mutation_p.L130F|AGL_ENST00000370165.3_Missense_Mutation_p.L147F|AGL_ENST00000361302.3_Missense_Mutation_p.L131F|AGL_ENST00000370163.3_Missense_Mutation_p.L147F|AGL_ENST00000370161.2_Missense_Mutation_p.L131F|AGL_ENST00000361915.3_Missense_Mutation_p.L147F	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	147					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GGAAAGCAGACTTAGGGTTGC	0.343																																						ENST00000294724.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.(439-441)Ctt>Ttt		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase							198.0	186.0	190.0					1																	100327958		2203	4300	6503	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100327958C>T	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.439C>T	1.37:g.100327958C>T	ENSP00000294724:p.Leu147Phe					AGL_ENST00000370161.2_Missense_Mutation_p.L131F|AGL_ENST00000370163.3_Missense_Mutation_p.L147F|AGL_ENST00000361522.4_Missense_Mutation_p.L130F|AGL_ENST00000361915.3_Missense_Mutation_p.L147F|AGL_ENST00000370165.3_Missense_Mutation_p.L147F|AGL_ENST00000361302.3_Missense_Mutation_p.L131F	p.L147F	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	4	917	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	147					A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.439C>T	CCDS759.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.763426	0.89932	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	D;D;D;D;D;D;D	0.90788	-2.73;-2.73;-2.73;-2.73;-2.73;-2.73;-2.73	5.53	4.6	0.57074	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.142674	0.48767	D	0.000177	D	0.91236	0.7238	L	0.60957	1.885	0.80722	D	1	D;D;P	0.58970	0.984;0.984;0.905	D;D;P	0.63113	0.911;0.911;0.816	D	0.89902	0.4045	10	0.30854	T	0.27	.	15.5291	0.75936	0.1394:0.8606:0.0:0.0	.	130;131;147	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	F	147;147;147;147;131;131;130	ENSP00000355106:L147F;ENSP00000359184:L147F;ENSP00000359182:L147F;ENSP00000294724:L147F;ENSP00000354971:L131F;ENSP00000359180:L131F;ENSP00000354635:L130F	ENSP00000294724:L147F	L	+	1	0	AGL	100100546	1.000000	0.71417	0.967000	0.41034	0.986000	0.74619	4.860000	0.62961	1.290000	0.44636	0.655000	0.94253	CTT		0.343	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		64	58	0	0	0	0.000781405	0	64	58				
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-EM-A2CL-01A-11D-A17V-08	TCGA-EM-A2CL-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ede121e-331f-434e-a551-ffc6fc01ce0b	49a37ba7-1dd0-4758-bcf0-49e779511d7f	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			4	202	0	0	0	0.00024832	0	4	202				
INTS4L1	285905	broad.mit.edu	37	7	64639752	64639752	+	RNA	SNP	A	A	T	rs201003787	byFrequency	TCGA-EM-A2CL-01A-11D-A17V-08	TCGA-EM-A2CL-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ede121e-331f-434e-a551-ffc6fc01ce0b	49a37ba7-1dd0-4758-bcf0-49e779511d7f	g.chr7:64639752A>T	ENST00000587624.1	+	0	635							Q96LV5	IN4L1_HUMAN	integrator complex subunit 4-like 1																		TTGATTTCCTAGTTGACATGT	0.443																																						ENST00000587624.1																			0																																																			0							g.chr7:64639752A>T			7q11.21	2013-03-26			ENSG00000164669	ENSG00000164669			21925	other	unknown							Standard	XR_426205		Approved	FLJ25037		Q96LV5	OTTHUMG00000156510		7.37:g.64639752A>T														0	635	+									RNA	SNP	ENST00000587624.1	37																																																																																						0.443	INTS4L1-002	KNOWN	non_canonical_conserved|basic	processed_transcript	pseudogene	OTTHUMT00000460821.1	XR_041315		5	23	0	0	0	8.12818e-05	0	5	23				
OR2L13	284521	broad.mit.edu	37	1	248263034	248263034	+	Silent	SNP	C	C	T			TCGA-EM-A2CL-01A-11D-A17V-08	TCGA-EM-A2CL-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ede121e-331f-434e-a551-ffc6fc01ce0b	49a37ba7-1dd0-4758-bcf0-49e779511d7f	g.chr1:248263034C>T	ENST00000358120.2	+	2	502	c.357C>T	c.(355-357)taC>taT	p.Y119Y	OR2L13_ENST00000366478.2_Silent_p.Y119Y			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y119Y(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CCATGGCCTACGACCGTTATT	0.512																																						ENST00000366478.2																			2	Substitution - coding silent(2)	p.Y119Y(2)	lung(2)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59						c.(355-357)taC>taT		olfactory receptor, family 2, subfamily L, member 13							221.0	206.0	211.0					1																	248263034		2203	4300	6503	SO:0001819	synonymous_variant	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248263034C>T	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.357C>T	1.37:g.248263034C>T						OR2L13_ENST00000358120.2_Silent_p.Y119Y	p.Y119Y	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	694	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		119					Q5VUR5	Silent	SNP	ENST00000358120.2	37	c.357C>T	CCDS1637.1																																																																																				0.512	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		37	161	0	0	0	0.000814825	0	37	161				
DIDO1	11083	broad.mit.edu	37	20	61512289	61512289	+	Silent	SNP	C	C	G			TCGA-EM-A2CL-01A-11D-A17V-08	TCGA-EM-A2CL-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ede121e-331f-434e-a551-ffc6fc01ce0b	49a37ba7-1dd0-4758-bcf0-49e779511d7f	g.chr20:61512289C>G	ENST00000266070.4	-	16	5344	c.5019G>C	c.(5017-5019)ccG>ccC	p.P1673P	DIDO1_ENST00000395343.1_Silent_p.P1673P	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1673					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CGTGCTGCAGCGGGAAGCCGG	0.697																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(5017-5019)ccG>ccC		death inducer-obliterator 1							15.0	19.0	17.0					20																	61512289		2193	4268	6461	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512289C>G	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.5019G>C	20.37:g.61512289C>G						DIDO1_ENST00000395343.1_Silent_p.P1673P	p.P1673P	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	5344	-	Breast(26;5.68e-08)		1673					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.5019G>C	CCDS33506.1																																																																																				0.697	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		3	32	0	0	0	6.4e-05	0	3	32				
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C	rs369326402	byFrequency	TCGA-EM-A2CL-01A-11D-A17V-08	TCGA-EM-A2CL-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ede121e-331f-434e-a551-ffc6fc01ce0b	49a37ba7-1dd0-4758-bcf0-49e779511d7f	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597																																						ENST00000463781.3																			10	Substitution - Missense(10)	p.H4205Q(10)	kidney(4)|prostate(3)|urinary_tract(2)|endometrium(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12613-12615)caC>caG		mucin 4, cell surface associated							15.0	14.0	14.0					3																	195505836		687	1573	2260	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505836G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12615C>G	3.37:g.195505836G>C	ENSP00000417498:p.His4205Gln					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000346145.4_Intron	p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	13074	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	968					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12615C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	0.099	-1.155501	0.01686	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30448	1.55;1.53	.	.	.	.	.	.	.	.	T	0.17619	0.0423	N	0.19112	0.55	0.21950	N	0.999454	P	0.35208	0.49	B	0.40038	0.317	T	0.24368	-1.0162	6	.	.	.	.	.	.	.	.	4077	E7ESK3	.	Q	4205	ENSP00000417498:H4205Q;ENSP00000420243:H4205Q	.	H	-	3	2	MUC4	196990615	.	.	0.016000	0.15963	0.046000	0.14306	.	.	-0.849000	0.04158	0.074000	0.15403	CAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	4	0	0	0	0.00116845	0	3	4				
BCRP7	100133163	broad.mit.edu	37	22	18845998	18845998	+	3'UTR	SNP	G	G	A	rs201503410		TCGA-EM-A2CL-01A-11D-A17V-08	TCGA-EM-A2CL-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ede121e-331f-434e-a551-ffc6fc01ce0b	49a37ba7-1dd0-4758-bcf0-49e779511d7f	g.chr22:18845998G>A	ENST00000412938.1	+	0	3356																											CCCGTCCTGCGCAGGCCGACA	0.607																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18845998G>A																												ENST00000412938.1:c.*3353G>A	22.37:g.18845998G>A														0	3356	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.607	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			5	32	0	0	0	8.12818e-05	0	5	32				
CLCNKA	1187	broad.mit.edu	37	1	16358311	16358311	+	Missense_Mutation	SNP	A	A	G	rs139001368	byFrequency	TCGA-EM-A2CL-01A-11D-A17V-08	TCGA-EM-A2CL-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ede121e-331f-434e-a551-ffc6fc01ce0b	49a37ba7-1dd0-4758-bcf0-49e779511d7f	g.chr1:16358311A>G	ENST00000331433.4	+	16	1748	c.1729A>G	c.(1729-1731)Acc>Gcc	p.T577A	CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000375692.1_Missense_Mutation_p.T577A|CLCNKA_ENST00000439316.2_Missense_Mutation_p.T534A|CLCNKA_ENST00000420078.1_Missense_Mutation_p.T577A			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	577	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CACAGACGTGACCGAGTATCC	0.607																																						ENST00000375692.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19						c.(1729-1731)Acc>Gcc		chloride channel, voltage-sensitive Ka	Niflumic Acid(DB04552)	G	ALA/THR,ALA/THR	1,4403		0,1,2201	114.0	83.0	94.0		1729,1729	2.1	0.0	1	dbSNP_134	94	1,8599	818.2+/-406.9	0,1,4299	no	missense,missense	CLCNKA	NM_001042704.1,NM_004070.3	58,58	0,2,6500	GG,GA,AA		0.0116,0.0227,0.0154	benign,benign	577/687,577/688	16358311	2,13002	2202	4300	6502	SO:0001583	missense	0				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16358311A>G		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.1729A>G	1.37:g.16358311A>G	ENSP00000332771:p.Thr577Ala					CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.T534A|CLCNKA_ENST00000420078.1_Missense_Mutation_p.T577A|CLCNKA_ENST00000331433.4_Missense_Mutation_p.T577A	p.T577A			P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	17	1857	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	577			CBS 1.		B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	ENST00000331433.4	37	c.1729A>G	CCDS167.1	.	.	.	.	.	.	.	.	.	.	G	0.517	-0.863924	0.02590	2.27E-4	1.16E-4	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31	4.09	2.11	0.27256	Cystathionine beta-synthase, core (3);	1.071180	0.07088	N	0.838279	T	0.66674	0.2813	N	0.01267	-0.92	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.54443	-0.8293	10	0.23891	T	0.37	.	6.5184	0.22260	0.3459:0.0:0.6541:0.0	.	534;577;577	E7EPH6;Q5T5Q4;P51800	.;.;CLCKA_HUMAN	A	577;577;534;577	ENSP00000364844:T577A;ENSP00000410353:T577A;ENSP00000414445:T534A;ENSP00000332771:T577A	ENSP00000332771:T577A	T	+	1	0	CLCNKA	16230898	0.000000	0.05858	0.021000	0.16686	0.139000	0.21198	-0.957000	0.03861	-0.016000	0.14127	-0.642000	0.03964	ACC		0.607	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			4	49	0	0	0	0.00024832	0	4	49				
EIF1AX	1964	broad.mit.edu	37	X	20156732	20156732	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A2CL-01A-11D-A17V-08	TCGA-EM-A2CL-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ede121e-331f-434e-a551-ffc6fc01ce0b	49a37ba7-1dd0-4758-bcf0-49e779511d7f	g.chrX:20156732C>G	ENST00000379607.5	-	2	228	c.25G>C	c.(25-27)Ggt>Cgt	p.G9R	snoU2_19_ENST00000364722.1_RNA|EIF1AX_ENST00000379593.1_Intron|snoU2-30_ENST00000365012.1_RNA|EIF1AX-AS1_ENST00000424026.1_RNA	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	9					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						CTGTTTTTACCTCCTTTACCT	0.313																																						ENST00000379607.5																			0				endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.(25-27)Ggt>Cgt		eukaryotic translation initiation factor 1A, X-linked							141.0	131.0	134.0					X																	20156732		2203	4300	6503	SO:0001583	missense	1964					cytosol	translation initiation factor activity	g.chrX:20156732C>G	L18960	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674			3250	protein-coding gene	gene with protein product		300186	"""eukaryotic translation initiation factor 1A, X chromosome"""	EIF4C, EIF1A		8106356, 9381176	Standard	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	P47813	OTTHUMG00000022704	ENST00000379607.5:c.25G>C	X.37:g.20156732C>G	ENSP00000368927:p.Gly9Arg					EIF1AX_ENST00000379593.1_Intron	p.G9R	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN			2	228	-			9					B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Missense_Mutation	SNP	ENST00000379607.5	37	c.25G>C	CCDS14196.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.478585	0.63849	.	.	ENSG00000173674	ENST00000379607	T	0.47528	0.84	4.94	4.94	0.65067	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.77018	0.4069	M	0.93763	3.455	0.80722	D	1	D	0.67145	0.996	D	0.79784	0.993	D	0.83927	0.0304	9	0.62326	D	0.03	-11.9247	17.661	0.88193	0.0:1.0:0.0:0.0	.	9	P47813	IF1AX_HUMAN	R	9	ENSP00000368927:G9R	ENSP00000368927:G9R	G	-	1	0	EIF1AX	20066653	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	7.237000	0.78164	2.187000	0.69744	0.600000	0.82982	GGT		0.313	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1			62	14	0	0	0	0.000781405	0	62	14				
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G	rs187344612		TCGA-EM-A2CL-01A-11D-A17V-08	TCGA-EM-A2CL-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ede121e-331f-434e-a551-ffc6fc01ce0b	49a37ba7-1dd0-4758-bcf0-49e779511d7f	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1				BMS1 pseudogene 20																		GTCTTCATGCAAACTTGGTAT	0.398																																						ENST00000426066.1																			0																																																			0							g.chr22:22664606A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664606A>G								NR_027293.1						0	787	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.398	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	30	0	0	0	6.4e-05	0	3	30				
NBPF15	284565	broad.mit.edu	37	1	148594439	148594439	+	Silent	SNP	A	A	G			TCGA-EM-A2CL-01A-11D-A17V-08	TCGA-EM-A2CL-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ede121e-331f-434e-a551-ffc6fc01ce0b	49a37ba7-1dd0-4758-bcf0-49e779511d7f	g.chr1:148594439A>G	ENST00000369187.3	+	19	2301	c.1812A>G	c.(1810-1812)ttA>ttG	p.L604L	NBPF15_ENST00000442702.2_Silent_p.L604L	NM_173638.3	NP_775909.2	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	604	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					CTGAAGTCTTACAGGACTCAC	0.463																																						ENST00000442702.2																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12						c.(1810-1812)ttA>ttG		neuroblastoma breakpoint family, member 15																																				SO:0001819	synonymous_variant	284565					cytoplasm		g.chr1:148594439A>G	BC023087	CCDS72852.1	1q21.1	2014-01-16			ENSG00000243452	ENSG00000266338		"""neuroblastoma breakpoint family"""	28791	protein-coding gene	gene with protein product		610414, 614005	"""neuroblastoma breakpoint family, member 16"""	NBPF16		16079250	Standard	NM_173638		Approved	MGC8902	uc001esc.2	Q8N660	OTTHUMG00000013634	ENST00000369187.3:c.1812A>G	1.37:g.148594439A>G						NBPF15_ENST00000369187.3_Silent_p.L604L	p.L604L	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN			21	2879	+	all_hematologic(923;0.032)		604			NBPF 6.		Q3BBV9|Q8IX77	Silent	SNP	ENST00000369187.3	37	c.1812A>G	CCDS932.1																																																																																				0.463	NBPF15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038609.3	NM_173638		5	371	0	0	0	8.12818e-05	0	5	371				
GABRR2	2570	broad.mit.edu	37	6	89967652	89967652	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A2CL-01A-11D-A17V-08	TCGA-EM-A2CL-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ede121e-331f-434e-a551-ffc6fc01ce0b	49a37ba7-1dd0-4758-bcf0-49e779511d7f	g.chr6:89967652C>G	ENST00000402938.3	-	9	1268	c.1135G>C	c.(1135-1137)Gga>Cga	p.G379R	GABRR2_ENST00000602399.1_Missense_Mutation_p.G404R	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	379					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	CTGTAGCTTCCATCCAGCATC	0.502																																						ENST00000402938.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21						c.(1135-1137)Gga>Cga		gamma-aminobutyric acid (GABA) A receptor, rho 2							86.0	78.0	81.0					6																	89967652		2203	4300	6503	SO:0001583	missense	2570				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:89967652C>G		CCDS5020.2, CCDS5020.3	6q15	2012-06-22	2012-02-03		ENSG00000111886	ENSG00000111886		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4091	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 2"""	137162	"""gamma-aminobutyric acid (GABA) receptor, rho 2"""			1315307	Standard	NM_002043		Approved		uc003pnb.3	P28476	OTTHUMG00000015198	ENST00000402938.3:c.1135G>C	6.37:g.89967652C>G	ENSP00000386029:p.Gly379Arg					GABRR2_ENST00000602399.1_Missense_Mutation_p.G404R	p.G379R			P28476	GBRR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0158)	9	1268	-		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)	404					A2BDE4|Q9H153	Missense_Mutation	SNP	ENST00000402938.3	37	c.1135G>C	CCDS5020.3	.	.	.	.	.	.	.	.	.	.	C	21.3	4.128150	0.77549	.	.	ENSG00000111886	ENST00000402938	.	.	.	5.92	5.05	0.67936	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.85682	D	0.000000	T	0.68044	0.2958	M	0.73217	2.22	0.80722	D	1	D	0.53151	0.958	P	0.58266	0.836	T	0.70605	-0.4826	8	.	.	.	.	16.453	0.83998	0.1324:0.8676:0.0:0.0	.	404	P28476	GBRR2_HUMAN	R	404	.	.	G	-	1	0	GABRR2	90024371	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.532000	0.60608	1.499000	0.48617	0.650000	0.86243	GGA		0.502	GABRR2-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041482.3			11	23	0	0	0	0.000673444	0	11	23				
OR2T29	343563	broad.mit.edu	37	1	248722428	248722429	+	Frame_Shift_Ins	INS	-	-	CG	rs368626489|rs546109722		TCGA-EM-A2CL-01A-11D-A17V-08	TCGA-EM-A2CL-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ede121e-331f-434e-a551-ffc6fc01ce0b	49a37ba7-1dd0-4758-bcf0-49e779511d7f	g.chr1:248722428_248722429insCG	ENST00000328570.3	-	1	368_369	c.364_365insCG	c.(364-366)atgfs	p.M122fs	RP11-438F14.3_ENST00000438623.1_RNA	NM_001004694.2	NP_001004694.2	Q8NH02	O2T29_HUMAN	olfactory receptor, family 2, subfamily T, member 29	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|lung(4)	5	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTCATAGGCCATGGTGGCTAGA	0.54																																						ENST00000328570.3																			0				NS(1)|lung(4)	5						c.(364-366)ggcfs		olfactory receptor, family 2, subfamily T, member 29				12,348		6,0,174						3.0	1.0			1	52,386		25,2,192	no	frameshift	OR2T29	NM_001004694.2		31,2,366	A1A1,A1R,RR		11.8721,3.3333,8.0201				64,734				SO:0001589	frameshift_variant	343563				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248722428_248722429insCG		CCDS55695.1	1q44	2012-08-09			ENSG00000182783	ENSG00000182783		"""GPCR / Class A : Olfactory receptors"""	31253	protein-coding gene	gene with protein product							Standard	NM_001004694		Approved		uc001ieo.2	Q8NH02	OTTHUMG00000040382	ENST00000328570.3:c.364_365insCG	1.37:g.248722428_248722429insCG	ENSP00000331774:p.Met122fs					RP11-438F14.3_ENST00000438623.1_RNA	p.G122fs	NM_001004694.2	NP_001004694.2	Q8NH02	O2T29_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	368_369	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		122						Frame_Shift_Ins	INS	ENST00000328570.3	37	c.364_365insCG	CCDS55695.1																																																																																				0.540	OR2T29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097132.1	NM_001004694		2	4						2	4	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6662746	6662748	+	In_Frame_Del	DEL	CAG	CAG	-	rs370785084|rs372916982		TCGA-EM-A2CL-01A-11D-A17V-08	TCGA-EM-A2CL-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ede121e-331f-434e-a551-ffc6fc01ce0b	49a37ba7-1dd0-4758-bcf0-49e779511d7f	g.chr11:6662746_6662748delCAG	ENST00000299441.3	-	2	508_510	c.97_99delCTG	c.(97-99)ctgdel	p.L33del		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	33					branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L33_G34insL(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCCAGCCCCcagcagcagcagc	0.635																																						ENST00000299441.3																			1	Insertion - In frame(1)	p.L33_G34insL(1)	prostate(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(97-99)del		dachsous cadherin-related 1				54,415,3471		8,0,38,73,269,1582						5.3	1.0		dbSNP_130	8	588,630,6394		117,13,341,89,439,2807	no	codingComplex	DCHS1	NM_003737.2		125,13,379,162,708,4389	A1A1,A1A2,A1R,A2A2,A2R,RR		16.0011,11.9036,14.6035				642,1045,9865				SO:0001651	inframe_deletion	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6662746_6662748delCAG	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.97_99delCTG	11.37:g.6662755_6662757delCAG	ENSP00000299441:p.Leu33del						p.L33del	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	508_510	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	33					O15098	In_Frame_Del	DEL	ENST00000299441.3	37	c.97_99delCTG	CCDS7771.1																																																																																				0.635	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		3	6						3	6	---	---	---	---
MPO	4353	broad.mit.edu	37	17	56350266	56350266	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EM-A2CL-01A-11D-A17V-08	TCGA-EM-A2CL-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ede121e-331f-434e-a551-ffc6fc01ce0b	49a37ba7-1dd0-4758-bcf0-49e779511d7f	g.chr17:56350266delG	ENST00000225275.3	-	10	1811	c.1635delC	c.(1633-1635)cccfs	p.P545fs	MPO_ENST00000578493.1_5'Flank|MPO_ENST00000340482.3_Frame_Shift_Del_p.P577fs	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	545					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	CCCGGAGGATGGGGTCAATGC	0.572																																						ENST00000340482.3																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46						c.(1729-1731)ccfs		myeloperoxidase	Cefdinir(DB00535)						91.0	98.0	95.0					17																	56350266		2203	4300	6503	SO:0001589	frameshift_variant	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56350266delG		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.1635delC	17.37:g.56350266delG	ENSP00000225275:p.Pro545fs					MPO_ENST00000225275.3_Frame_Shift_Del_p.P545fs	p.P577fs			P05164	PERM_HUMAN			9	1907	-			545					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Frame_Shift_Del	DEL	ENST00000225275.3	37	c.1731delC	CCDS11604.1																																																																																				0.572	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			98	122						98	122	---	---	---	---
LILRB1	10859	broad.mit.edu	37	19	55143156	55143157	+	Frame_Shift_Del	DEL	TG	TG	-	rs12462774|rs34880987|rs12460501|rs200526666	byFrequency	TCGA-EM-A2CL-01A-11D-A17V-08	TCGA-EM-A2CL-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ede121e-331f-434e-a551-ffc6fc01ce0b	49a37ba7-1dd0-4758-bcf0-49e779511d7f	g.chr19:55143156_55143157delTG	ENST00000396331.1	+	5	633_634	c.276_277delTG	c.(274-279)catgcafs	p.A93fs	LILRB1_ENST00000396317.1_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000427581.2_Frame_Shift_Del_p.A129fs|LILRB1_ENST00000418536.2_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000324602.7_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000434867.2_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000396321.2_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000396315.1_Frame_Shift_Del_p.A93fs|AC009892.1_ENST00000578908.1_RNA|LILRB1_ENST00000448689.1_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000396327.3_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000396332.4_Frame_Shift_Del_p.A93fs	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	93	Ig-like C2-type 1.		A -> T (in dbSNP:rs12460501). {ECO:0000269|PubMed:20600445}.		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)		CCTGGGAACATGCAGGGCGGTA	0.554										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.(274-279)cacafs		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1																																				SO:0001589	frameshift_variant	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55143156_55143157delTG	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.276_277delTG	19.37:g.55143156_55143157delTG	ENSP00000379622:p.Ala93fs	HNSCC(37;0.09)				LILRB1_ENST00000448689.1_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000434867.2_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000427581.2_Frame_Shift_Del_p.HA128fs|LILRB1_ENST00000396332.4_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000396317.1_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000418536.2_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000396321.2_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000396315.1_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000396327.3_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000324602.7_Frame_Shift_Del_p.HA92fs	p.HA92fs	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	5	633_634	+			92			Ig-like C2-type 1.		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Frame_Shift_Del	DEL	ENST00000396331.1	37	c.276_277delTG	CCDS42617.1																																																																																				0.554	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			10	124						10	124	---	---	---	---
