#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
NDST4	64579	broad.mit.edu	37	4	115998001	115998001	+	Silent	SNP	C	C	T			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr4:115998001C>T	ENST00000264363.2	-	2	870	c.192G>A	c.(190-192)gaG>gaA	p.E64E		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	64	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CTGTTTTCAGCTCCATTGACC	0.408																																						uc003ibu.3																			0		p.E64K(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(190-192)gaG>gaA		Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.							150.0	173.0	165.0					4																	115998001		2203	4300	6503	SO:0001819	synonymous_variant	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115998001C>T	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.192G>A	4.37:g.115998001C>T			Somatic				NDST4_uc010imw.3_Intron	p.E64E	NM_022569	NP_072091	WXS	Illumina GAIIx	Phase_I	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	1	871	-		Ovarian(17;0.156)	64			Heparan sulfate N-deacetylase 4.		Q2KHM8	Silent	SNP	ENST00000264363.2	37	c.192G>A	CCDS3706.1																																																																																				0.408	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		7	69	0	0	0	1	0	7	69				
GCN1L1	10985	broad.mit.edu	37	12	120582584	120582584	+	Silent	SNP	T	T	C			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr12:120582584T>C	ENST00000300648.6	-	41	5223	c.5211A>G	c.(5209-5211)ccA>ccG	p.P1737P		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1737					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCACGATTTCTGGCATCAACT	0.517																																						uc001txo.3																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(5209-5211)ccA>ccG		Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.							182.0	186.0	185.0					12																	120582584		2052	4211	6263	SO:0001819	synonymous_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120582584T>C	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.5211A>G	12.37:g.120582584T>C			Somatic					p.P1737P	NM_006836	NP_006827	WXS	Illumina GAIIx	Phase_I	Q92616	GCN1L_HUMAN			40	5224	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1737					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	c.5211A>G	CCDS41847.1																																																																																				0.517	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			58	103	0	0	0	1	0	58	103				
TMEM145	284339	broad.mit.edu	37	19	42821993	42821993	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr19:42821993C>T	ENST00000301204.3	+	12	1074	c.1033C>T	c.(1033-1035)Cag>Tag	p.Q345*	TMEM145_ENST00000598766.1_Nonsense_Mutation_p.Q369*	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	345					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				TCCTGAGAAGCAGCCTTTTTA	0.597																																						uc002otk.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27						c.(1033-1035)Cag>Tag		Homo sapiens transmembrane protein 145 (TMEM145), mRNA.							192.0	154.0	167.0					19																	42821993		2203	4300	6503	SO:0001587	stop_gained	284339					integral to membrane		g.chr19:42821993C>T	AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.1033C>T	19.37:g.42821993C>T	ENSP00000301204:p.Gln345*		Somatic					p.Q345*	NM_173633	NP_775904	WXS	Illumina GAIIx	Phase_I	Q8NBT3	TM145_HUMAN			11	1085	+		Prostate(69;0.00682)	345						Nonsense_Mutation	SNP	ENST00000301204.3	37	c.1033C>T	CCDS12603.1	.	.	.	.	.	.	.	.	.	.	C	36	5.864104	0.97043	.	.	ENSG00000167619	ENST00000301204	.	.	.	4.55	4.55	0.56014	.	0.324845	0.26594	N	0.023506	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-23.4669	15.1796	0.72945	0.0:1.0:0.0:0.0	.	.	.	.	X	345	.	ENSP00000301204:Q345X	Q	+	1	0	TMEM145	47513833	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.277000	0.72608	2.258000	0.74832	0.591000	0.81541	CAG		0.597	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1	NM_173633		6	70	0	0	0	1	0	6	70				
S100A7	6278	broad.mit.edu	37	1	153430333	153430333	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr1:153430333G>T	ENST00000368723.3	-	3	365	c.255C>A	c.(253-255)gaC>gaA	p.D85E	S100A7_ENST00000368722.1_Missense_Mutation_p.D85E	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	85	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				angiogenesis (GO:0001525)|defense response to Gram-negative bacterium (GO:0050829)|epidermis development (GO:0008544)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of granulocyte chemotaxis (GO:0071624)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of T cell chemotaxis (GO:0010820)|response to lipopolysaccharide (GO:0032496)|response to reactive oxygen species (GO:0000302)|sequestering of metal ion (GO:0051238)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|RAGE receptor binding (GO:0050786)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTTGTGGTAGTCTGTGGCTA	0.512																																						uc001fbv.1																			0		p.D85G(1)		breast(1)|large_intestine(2)|lung(5)|skin(2)	10						c.(253-255)gaC>gaA		Homo sapiens S100 calcium binding protein A7 (S100A7), mRNA.							99.0	88.0	91.0					1																	153430333		2203	4300	6503	SO:0001583	missense	6278				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of T cell chemotaxis|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	RAGE receptor binding|calcium ion binding|zinc ion binding	g.chr1:153430333G>T	BC034687	CCDS1039.1	1q21	2013-01-10	2006-09-11		ENSG00000143556	ENSG00000143556		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10497	protein-coding gene	gene with protein product		600353	"""S100 calcium-binding protein A7 (psoriasin 1)"", ""S100 calcium binding protein A7 (psoriasin 1)"""	PSOR1		1940442	Standard	NM_002963		Approved	S100A7c	uc001fbv.1	P31151	OTTHUMG00000013123	ENST00000368723.3:c.255C>A	1.37:g.153430333G>T	ENSP00000357712:p.Asp85Glu		Somatic					p.D85E	NM_002963	NP_002954	WXS	Illumina GAIIx	Phase_I	P31151	S10A7_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	326	-	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		85			EF-hand 2.		Q5SY67|Q6FGE3|Q9H1E2	Missense_Mutation	SNP	ENST00000368723.3	37	c.255C>A	CCDS1039.1	.	.	.	.	.	.	.	.	.	.	.	9.037	0.988711	0.18966	.	.	ENSG00000143556	ENST00000368723;ENST00000368722	T;T	0.06218	3.33;3.33	2.15	0.207	0.15214	EF-hand-like domain (1);	.	.	.	.	T	0.01287	0.0042	L	0.53249	1.67	0.09310	N	1	P	0.43412	0.806	B	0.37091	0.241	T	0.37526	-0.9702	9	0.06625	T	0.88	.	4.2297	0.10597	0.368:0.0:0.632:0.0	.	85	P31151	S10A7_HUMAN	E	85	ENSP00000357712:D85E;ENSP00000357711:D85E	ENSP00000357711:D85E	D	-	3	2	S100A7	151696957	0.329000	0.24696	0.004000	0.12327	0.149000	0.21700	0.266000	0.18534	0.062000	0.16340	0.194000	0.17425	GAC		0.512	S100A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036789.1	NM_002963		33	55	0	0	0	1	0	33	55				
NCOR1	9611	broad.mit.edu	37	17	15995328	15995328	+	Silent	SNP	G	G	A	rs375288132		TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr17:15995328G>A	ENST00000268712.3	-	22	3122	c.2865C>T	c.(2863-2865)agC>agT	p.S955S	NCOR1_ENST00000395851.1_Silent_p.S971S|NCOR1_ENST00000395848.1_Silent_p.S862S	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	955					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GAGCATAGCCGCTCACTGGGG	0.433																																						uc002gpo.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(2863-2865)agC>agT		Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.		G	,,	0,4406		0,0,2203	120.0	118.0	119.0		2586,2913,2865	-2.5	0.7	17		119	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	NCOR1	NM_001190438.1,NM_001190440.1,NM_006311.3	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	862/915,971/2338,955/2441	15995328	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15995328G>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.2865C>T	17.37:g.15995328G>A			Somatic				NCOR1_uc002gpn.3_Silent_p.S971S|NCOR1_uc002gpp.1_Silent_p.S862S|NCOR1_uc002gpq.1_5'UTR|NCOR1_uc002gpr.3_Silent_p.S862S	p.S955S	NM_006311	NP_006302	WXS	Illumina GAIIx	Phase_I	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	21	3134	-			955					B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	ENST00000268712.3	37	c.2865C>T	CCDS11175.1																																																																																				0.433	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		7	86	0	0	0	1	0	7	86				
IRS2	8660	broad.mit.edu	37	13	110438060	110438060	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr13:110438060G>A	ENST00000375856.3	-	1	855	c.341C>T	c.(340-342)gCc>gTc	p.A114V		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	114	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GGTGTAGAGGGCGATCAGGTA	0.657																																					Melanoma(100;613 2409 40847)	uc001vqv.3																			0				kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19						c.(340-342)gCc>gTc		Homo sapiens insulin receptor substrate 2 (IRS2), mRNA.							35.0	25.0	29.0					13																	110438060		2198	4297	6495	SO:0001583	missense	8660				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity	g.chr13:110438060G>A	AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"""Pleckstrin homology (PH) domain containing"""	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.341C>T	13.37:g.110438060G>A	ENSP00000365016:p.Ala114Val		Somatic					p.A114V	NM_003749	NP_003740	WXS	Illumina GAIIx	Phase_I	Q9Y4H2	IRS2_HUMAN	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)		0	855	-	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	114			PH.		Q96RR2|Q9BZG0|Q9Y6I5	Missense_Mutation	SNP	ENST00000375856.3	37	c.341C>T	CCDS9510.1	.	.	.	.	.	.	.	.	.	.	g	28.8	4.953054	0.92660	.	.	ENSG00000185950	ENST00000375856	T	0.74842	-0.88	3.33	3.33	0.38152	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	U	0.000002	T	0.77398	0.4124	L	0.31065	0.9	0.48975	D	0.99973	D	0.89917	1.0	D	0.91635	0.999	T	0.76623	-0.2891	10	0.36615	T	0.2	.	13.7259	0.62759	0.0:0.0:1.0:0.0	.	114	Q9Y4H2	IRS2_HUMAN	V	114	ENSP00000365016:A114V	ENSP00000365016:A114V	A	-	2	0	IRS2	109236061	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.335000	0.90031	1.742000	0.51746	0.479000	0.44913	GCC		0.657	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1	NM_003749		7	9	0	0	0	1	0	7	9				
PDE4DIP	9659	broad.mit.edu	37	1	144906087	144906087	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr1:144906087T>C	ENST00000369354.3	-	19	2735	c.2546A>G	c.(2545-2547)cAa>cGa	p.Q849R	PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q986R|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.Q1012R|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q849R|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.Q849R|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q915R|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.Q636R|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.Q1012R|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.Q849R|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.Q986R			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	849					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGAAATTTCTTGACCCTGGGA	0.353			T	PDGFRB	MPD																																	uc021ouh.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(2545-2547)cAa>cGa		Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.							77.0	81.0	79.0					1																	144906087		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding	g.chr1:144906087T>C	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.2546A>G	1.37:g.144906087T>C	ENSP00000358360:p.Gln849Arg		Somatic				NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.Q849R|PDE4DIP_uc001elx.4_Missense_Mutation_p.Q915R|PDE4DIP_uc001emd.2_Missense_Mutation_p.Q849R|PDE4DIP_uc001emc.2_Missense_Mutation_p.Q849R|PDE4DIP_uc001emb.1_Missense_Mutation_p.Q1012R|PDE4DIP_uc001eme.1_Intron	p.Q849R	NM_001198834	NP_001185763	WXS	Illumina GAIIx	Phase_I	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	18	2848	-			849					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.2546A>G	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	T	15.59	2.878364	0.51801	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.12039	4.71;4.84;4.84;4.84;4.83;3.85;3.85;2.76;2.74;2.72	5.6	4.41	0.53225	.	.	.	.	.	T	0.08802	0.0218	L	0.29908	0.895	0.80722	D	1	P;P;P;D;D	0.65815	0.914;0.944;0.929;0.985;0.995	B;P;P;P;P	0.58721	0.395;0.548;0.503;0.786;0.844	T	0.21861	-1.0233	9	0.15499	T	0.54	.	9.146	0.36933	0.0:0.0:0.1838:0.8162	.	1012;849;1012;915;849	E9PL24;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;MYOME_HUMAN	R	915;849;849;1012;986;986;849;849;1012;1012;636	ENSP00000327209:Q915R;ENSP00000358360:Q849R;ENSP00000358363:Q849R;ENSP00000435654:Q986R;ENSP00000358366:Q986R;ENSP00000358357:Q849R;ENSP00000358355:Q849R;ENSP00000316434:Q1012R;ENSP00000433392:Q1012R;ENSP00000436791:Q636R	ENSP00000327209:Q915R	Q	-	2	0	PDE4DIP	143617444	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.104000	0.50306	2.171000	0.68590	0.467000	0.42956	CAA		0.353	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		10	98	0	0	0	1	0	10	98				
GABRA2	2555	broad.mit.edu	37	4	46314729	46314729	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr4:46314729T>C	ENST00000510861.1	-	5	433	c.260A>G	c.(259-261)tAt>tGt	p.Y87C	GABRA2_ENST00000356504.1_Missense_Mutation_p.Y87C|GABRA2_ENST00000507069.1_Missense_Mutation_p.Y87C|GABRA2_ENST00000514090.1_Missense_Mutation_p.Y87C|GABRA2_ENST00000381620.4_Missense_Mutation_p.Y87C|GABRA2_ENST00000515082.1_Missense_Mutation_p.Y87C|GABRA2_ENST00000540012.1_Missense_Mutation_p.Y32C			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	87					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	ATCAATTGTATATTCCTGAAA	0.249																																						uc011bzc.1																			0		p.Q31K(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56						c.(94-96)tAt>tGt		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA.	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						20.0	21.0	21.0					4																	46314729		2150	4279	6429	SO:0001583	missense	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46314729T>C		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.260A>G	4.37:g.46314729T>C	ENSP00000421828:p.Tyr87Cys		Somatic				GABRA2_uc003gxc.3_Missense_Mutation_p.Y87C|GABRA2_uc010igc.2_Missense_Mutation_p.Y87C|GABRA2_uc003gxe.3_Missense_Mutation_p.Y87C	p.Y32C			WXS	Illumina GAIIx	Phase_I	P47869	GBRA2_HUMAN			3	507	-			87					A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	c.95A>G	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	T	18.48	3.633857	0.67130	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069;ENST00000515082;ENST00000503806;ENST00000506961	T;T;T;T;T;T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33;-1.33;-1.33;-1.33;-1.33;-1.33	5.95	5.95	0.96441	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.93252	0.7850	H	0.96691	3.865	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.993;1.0	D	0.95272	0.8378	10	0.87932	D	0	.	15.5881	0.76502	0.0:0.0:0.0:1.0	.	32;87;87	B7Z1H8;G5E9Z6;P47869	.;.;GBRA2_HUMAN	C	87;87;87;87;32;87;87;87;87	ENSP00000421828:Y87C;ENSP00000421300:Y87C;ENSP00000371033:Y87C;ENSP00000348897:Y87C;ENSP00000444409:Y32C;ENSP00000427603:Y87C;ENSP00000423840:Y87C;ENSP00000424362:Y87C;ENSP00000424093:Y87C	ENSP00000348897:Y87C	Y	-	2	0	GABRA2	46009486	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	8.040000	0.89188	2.272000	0.75746	0.460000	0.39030	TAT		0.249	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			5	24	0	0	0	1	0	5	24				
SEC14L2	23541	broad.mit.edu	37	22	30812008	30812008	+	Silent	SNP	C	C	T			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr22:30812008C>T	ENST00000312932.9	+	10	1103	c.843C>T	c.(841-843)agC>agT	p.S281S	SEC14L2_ENST00000402592.3_Silent_p.S198S|SEC14L2_ENST00000405717.3_Silent_p.S281S|RP4-539M6.19_ENST00000439838.1_Silent_p.S115S|SEC14L2_ENST00000403484.1_Silent_p.S207S	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	281	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cholesterol biosynthetic process (GO:0045540)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	ATGAACACAGCGTGCAGATTT	0.557																																						uc003ahu.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10						c.e5+1		Homo sapiens SEC14-like 2 (S. cerevisiae) (SEC14L2), transcript variant 3, mRNA.	Vitamin E(DB00163)						101.0	89.0	93.0					22																	30812008		2203	4300	6503	SO:0001819	synonymous_variant	23541				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding	g.chr22:30812008C>T	AL096881	CCDS13876.1, CCDS46685.1, CCDS56228.1	22q12.2	2010-08-19	2001-11-28		ENSG00000100003	ENSG00000100003			10699	protein-coding gene	gene with protein product	"""supernatant protein factor"""	607558	"""SEC14 (S. cerevisiae)-like 2"""	C22orf6		10591208	Standard	NM_033382		Approved	TAP, SPF, KIAA1186, KIAA1658	uc003ahr.3	O76054	OTTHUMG00000151024	ENST00000312932.9:c.843C>T	22.37:g.30812008C>T			Somatic				SEC14L2_uc003ahq.3_Silent_p.S281S|SEC14L2_uc003ahr.3_Silent_p.S281S|SEC14L2_uc011aky.2_Silent_p.S198S|SEC14L2_uc011akx.2_Silent_p.S227S|SEC14L2_uc003ahs.3_Silent_p.S207S|SEC14L2_uc003aht.3_Non-coding_Transcript|SEC14L2_uc010gvv.3_Non-coding_Transcript|SEC14L2_uc003ahv.1_Silent_p.S105S|SEC14L2_uc010gvx.1_Intron|SEC14L2_uc010gvy.1_Intron	p.S105_splice	NM_001204204	NP_001191133	WXS	Illumina GAIIx	Phase_I	O76054	S14L2_HUMAN			5	420	+			281			CRAL-TRIO.		B7Z8Q1|F5H3U4|Q53EQ2|Q6PD61|Q9ULN4	Splice_Site	SNP	ENST00000312932.9	37	c.315_splice	CCDS13876.1																																																																																				0.557	SEC14L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321018.4	NM_012429		21	53	0	0	0	1	0	21	53				
ALG13	79868	broad.mit.edu	37	X	110951558	110951558	+	Silent	SNP	A	A	G			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chrX:110951558A>G	ENST00000394780.3	+	4	699	c.687A>G	c.(685-687)ttA>ttG	p.L229L	ALG13-AS1_ENST00000430794.1_RNA|ALG13_ENST00000251943.4_Silent_p.L125L	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	229	Deubiquitinase activity.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						TAGGCAGCTTAGGGCTGTTTC	0.453																																						uc011msy.2																			0				endometrium(2)|lung(10)|skin(1)	13						c.(685-687)ttA>ttG		Homo sapiens asparagine-linked glycosylation 13 homolog (S. cerevisiae) (ALG13), transcript variant 1, mRNA.							126.0	109.0	115.0					X																	110951558		1568	3582	5150	SO:0001819	synonymous_variant	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity|carbohydrate binding	g.chrX:110951558A>G	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.687A>G	X.37:g.110951558A>G			Somatic				ALG13_uc011msw.2_Silent_p.L151L|ALG13_uc011msx.2_Silent_p.L125L|ALG13_uc011msz.2_Silent_p.L151L|ALG13_uc011mta.2_Silent_p.L125L|ALG13_uc011mtb.2_Silent_p.L125L	p.L229L	NM_001099922	NP_001093392	WXS	Illumina GAIIx	Phase_I	Q9NP73	ALG13_HUMAN			3	788	+			229					B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Silent	SNP	ENST00000394780.3	37	c.687A>G	CCDS55477.1																																																																																				0.453	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		9	56	0	0	0	1	0	9	56				
COL6A6	131873	broad.mit.edu	37	3	130282318	130282318	+	Silent	SNP	C	C	T			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr3:130282318C>T	ENST00000358511.6	+	2	502	c.471C>T	c.(469-471)gaC>gaT	p.D157D	COL6A6_ENST00000453409.2_Silent_p.D157D	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	157	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.D157D(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGCGGAAAGACGGAGTGAAAA	0.493																																						uc010htl.3																			1	Substitution - coding silent(1)	p.D157D(2)	large_intestine(1)	NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(469-471)gaC>gaT		Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.							57.0	57.0	57.0					3																	130282318		1923	4123	6046	SO:0001819	synonymous_variant	131873				axon guidance|cell adhesion	collagen		g.chr3:130282318C>T	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.471C>T	3.37:g.130282318C>T			Somatic					p.D157D	NM_001102608	NP_001096078	WXS	Illumina GAIIx	Phase_I	A6NMZ7	CO6A6_HUMAN			1	502	+			157			Nonhelical region.|VWFA 1.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	c.471C>T	CCDS46911.1																																																																																				0.493	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		4	39	0	0	0	1	0	4	39				
GPR139	124274	broad.mit.edu	37	16	20084907	20084907	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr16:20084907T>A	ENST00000570682.1	-	1	332	c.32A>T	c.(31-33)aAc>aTc	p.N11I		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	11					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CAGCGAGCTGTTGGCTGCGAG	0.697																																						uc002dgu.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						c.(31-33)aAc>aTc		Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.							34.0	35.0	35.0					16																	20084907		2201	4299	6500	SO:0001583	missense	124274					integral to membrane|plasma membrane		g.chr16:20084907T>A	AY255545	CCDS32398.1	16p13.11	2012-08-21						"""GPCR / Class A : Orphans"""	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.32A>T	16.37:g.20084907T>A	ENSP00000458791:p.Asn11Ile		Somatic				GPR139_uc010vaw.1_5'UTR	p.N11I	NM_001002911	NP_001002911	WXS	Illumina GAIIx	Phase_I	Q6DWJ6	GP139_HUMAN			0	194	-			11					A8K5R9|Q86SP2|Q8TDU8	Missense_Mutation	SNP	ENST00000570682.1	37	c.32A>T	CCDS32398.1	.	.	.	.	.	.	.	.	.	.	T	15.25	2.776652	0.49786	.	.	ENSG00000180269	ENST00000326571	.	.	.	4.32	4.32	0.51571	.	0.067200	0.56097	D	0.000026	T	0.31451	0.0797	N	0.08118	0	0.37023	D	0.896304	B	0.09022	0.002	B	0.08055	0.003	T	0.30621	-0.9972	9	0.87932	D	0	-20.213	9.805	0.40789	0.0:0.0:0.0:1.0	.	11	Q6DWJ6	GP139_HUMAN	I	11	.	ENSP00000370779:N11I	N	-	2	0	GPR139	19992408	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.523000	0.35932	1.799000	0.52666	0.374000	0.22700	AAC		0.697	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		5	11	0	0	0	1	0	5	11				
B4GALNT3	283358	broad.mit.edu	37	12	667249	667249	+	Missense_Mutation	SNP	G	G	A	rs539329065		TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr12:667249G>A	ENST00000266383.5	+	17	2615	c.2602G>A	c.(2602-2604)Gtg>Atg	p.V868M		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	868					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CATAGACCTCGTGAAGGTAAA	0.547													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22200	0.0		0.0	False		,,,				2504	0.0					uc001qii.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(2602-2604)Gtg>Atg		Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.							65.0	64.0	64.0					12																	667249		2203	4300	6503	SO:0001583	missense	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:667249G>A	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.2602G>A	12.37:g.667249G>A	ENSP00000266383:p.Val868Met		Somatic				B4GALNT3_uc001qik.1_Missense_Mutation_p.V417M	p.V868M	NM_173593	NP_775864	WXS	Illumina GAIIx	Phase_I	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		16	2602	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		868					Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	c.2602G>A	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.223582	0.79576	.	.	ENSG00000139044	ENST00000266383	T	0.35605	1.3	4.97	4.97	0.65823	.	0.179894	0.48286	D	0.000189	T	0.64972	0.2647	M	0.83603	2.65	0.50039	D	0.999843	D	0.89917	1.0	D	0.77557	0.99	T	0.70949	-0.4733	10	0.72032	D	0.01	-23.0392	18.6071	0.91271	0.0:0.0:1.0:0.0	.	868	Q6L9W6	B4GN3_HUMAN	M	868	ENSP00000266383:V868M	ENSP00000266383:V868M	V	+	1	0	B4GALNT3	537510	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	4.820000	0.62671	2.454000	0.82982	0.561000	0.74099	GTG		0.547	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		4	49	0	0	0	1	0	4	49				
DOCK7	85440	broad.mit.edu	37	1	63042965	63042965	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr1:63042965G>C	ENST00000340370.5	-	18	2097	c.2080C>G	c.(2080-2082)Cca>Gca	p.P694A	DOCK7_ENST00000251157.5_Missense_Mutation_p.P694A	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	694	DHR-1.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GCCTGTGGTGGTTTTTCCAAT	0.373																																						uc001daq.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.(2080-2082)Cca>Gca		Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.							74.0	73.0	73.0					1																	63042965		2203	4300	6503	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity	g.chr1:63042965G>C		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.2080C>G	1.37:g.63042965G>C	ENSP00000340742:p.Pro694Ala		Somatic				DOCK7_uc001dan.3_Missense_Mutation_p.P586A|DOCK7_uc001dao.3_Missense_Mutation_p.P586A|DOCK7_uc001dap.3_Missense_Mutation_p.P694A	p.P694A	NM_033407	NP_212132	WXS	Illumina GAIIx	Phase_I	Q96N67	DOCK7_HUMAN			17	2114	-			694			DHR-1.		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.2080C>G	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340714	0.81911	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370	T;T	0.14022	2.54;2.54	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.44008	0.1273	M	0.86343	2.81	0.80722	D	1	D;P;D;D	0.69078	0.997;0.843;0.968;0.969	D;P;P;P	0.72075	0.976;0.473;0.775;0.615	T	0.43475	-0.9389	10	0.42905	T	0.14	.	18.5867	0.91192	0.0:0.0:1.0:0.0	.	694;694;694;694	Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3	.;.;.;.	A	694	ENSP00000251157:P694A;ENSP00000340742:P694A	ENSP00000251157:P694A	P	-	1	0	DOCK7	62815553	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	9.657000	0.98554	2.623000	0.88846	0.467000	0.42956	CCA		0.373	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		15	36	0	0	0	1	0	15	36				
IRF5	3663	broad.mit.edu	37	7	128588791	128588791	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr7:128588791G>T	ENST00000402030.2	+	9	1488	c.1416G>T	c.(1414-1416)caG>caT	p.Q472H	IRF5_ENST00000357234.5_Missense_Mutation_p.Q488H|IRF5_ENST00000477535.1_Missense_Mutation_p.Q386H|IRF5_ENST00000473745.1_Missense_Mutation_p.Q472H|IRF5_ENST00000249375.4_Missense_Mutation_p.Q472H	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	472					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						AGCGGTTGCAGCCTGTGGCCC	0.597																																						uc003vog.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						c.(1462-1464)caG>caT		Homo sapiens interferon regulatory factor 5 (IRF5), transcript variant 5, mRNA.							68.0	71.0	70.0					7																	128588791		2203	4300	6503	SO:0001583	missense	3663				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:128588791G>T		CCDS5808.1, CCDS43645.1, CCDS56512.1	7q32	2008-07-18			ENSG00000128604	ENSG00000128604			6120	protein-coding gene	gene with protein product		607218					Standard	XM_005250317		Approved		uc003vog.3	Q13568	OTTHUMG00000158410	ENST00000402030.2:c.1416G>T	7.37:g.128588791G>T	ENSP00000385352:p.Gln472His		Somatic				IRF5_uc003voh.3_Missense_Mutation_p.Q472H|IRF5_uc010llt.3_Missense_Mutation_p.Q386H|IRF5_uc003voi.3_Missense_Mutation_p.Q472H|IRF5_uc003voj.4_Missense_Mutation_p.Q472H	p.Q488H	NM_001098629	NP_001092099	WXS	Illumina GAIIx	Phase_I	Q13568	IRF5_HUMAN			8	1585	+			472					A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	Missense_Mutation	SNP	ENST00000402030.2	37	c.1464G>T	CCDS5808.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.385739	0.42308	.	.	ENSG00000128604	ENST00000357234;ENST00000477535;ENST00000402030;ENST00000249375;ENST00000473745;ENST00000412326	D;D;D;D;D	0.97455	-4.39;-4.37;-4.39;-4.39;-4.39	5.87	4.04	0.47022	SMAD domain-like (1);SMAD/FHA domain (1);	0.139842	0.32640	N	0.005822	D	0.93812	0.8021	L	0.47716	1.5	0.28953	N	0.890291	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.10450	0.001;0.001;0.005	D	0.88993	0.3416	10	0.52906	T	0.07	-2.4908	6.8101	0.23799	0.1526:0.1483:0.6991:0.0	.	386;472;488	E7EW54;Q13568;Q13568-2	.;IRF5_HUMAN;.	H	488;386;472;472;472;462	ENSP00000349770:Q488H;ENSP00000419950:Q386H;ENSP00000385352:Q472H;ENSP00000249375:Q472H;ENSP00000419149:Q472H	ENSP00000249375:Q472H	Q	+	3	2	IRF5	128376027	0.999000	0.42202	0.998000	0.56505	0.998000	0.95712	1.411000	0.34702	1.473000	0.48159	0.655000	0.94253	CAG		0.597	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350934.1	NM_001098627		39	72	0	0	0	1	0	39	72				
ECSIT	51295	broad.mit.edu	37	19	11618516	11618516	+	Splice_Site	SNP	C	C	T			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr19:11618516C>T	ENST00000270517.7	-	6	1081		c.e6+1		CTC-398G3.6_ENST00000585656.1_5'Flank|ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000252440.7_Intron|ZNF653_ENST00000293771.5_5'Flank|ZNF653_ENST00000593191.1_5'Flank|ECSIT_ENST00000591352.1_5'Flank|ECSIT_ENST00000592312.1_Splice_Site|ECSIT_ENST00000591104.1_Splice_Site|ECSIT_ENST00000417981.2_Splice_Site	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator						BMP signaling pathway (GO:0030509)|innate immune response (GO:0045087)|mesoderm formation (GO:0001707)|oxidation-reduction process (GO:0055114)|regulation of oxidoreductase activity (GO:0051341)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	oxidoreductase activity, acting on NAD(P)H (GO:0016651)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						TAAGCCCTCACCCTCTCCTCC	0.612																																						uc002msb.3																			0				kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						c.e6+1		Homo sapiens ECSIT homolog (Drosophila) (ECSIT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							56.0	46.0	49.0					19																	11618516		2203	4300	6503	SO:0001630	splice_region_variant	51295				innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding	g.chr19:11618516C>T	BC005119	CCDS12262.1, CCDS45979.1, CCDS45980.1, CCDS59353.1	19p13.2	2013-05-24	2013-05-24			ENSG00000130159		"""Mitochondrial respiratory chain complex assembly factors"""	29548	protein-coding gene	gene with protein product	"""signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse)"""	608388	"""ECSIT homolog (Drosophila)"""			10465784, 22982022	Standard	NM_001142464		Approved	SITPEC	uc002msb.3	Q9BQ95		ENST00000270517.7:c.945+1G>A	19.37:g.11618516C>T			Somatic				ZNF653_uc002mrz.2_5'Flank|ECSIT_uc010dyc.2_Splice_Site_p.G275_splice|ECSIT_uc010dyd.3_Intron|ECSIT_uc010xma.2_Splice_Site_p.R101_splice	p.R315_splice	NM_016581	NP_057665	WXS	Illumina GAIIx	Phase_I	Q9BQ95	ECSIT_HUMAN			6	1079	-			315					E9PAN9|K7EMM0|Q96HQ7|Q9NYI1	Splice_Site	SNP	ENST00000270517.7	37	c.945_splice	CCDS12262.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.662571	0.67700	.	.	ENSG00000130159	ENST00000270517;ENST00000417981	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.52	0.84311	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ECSIT	11479516	1.000000	0.71417	0.998000	0.56505	0.639000	0.38242	7.224000	0.78042	2.165000	0.68154	0.491000	0.48974	.		0.612	ECSIT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442603.2	NM_016581	Intron	22	42	0	0	0	1	0	22	42				
SLC9A3R1	9368	broad.mit.edu	37	17	72759553	72759553	+	Silent	SNP	C	C	A	rs531304500		TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr17:72759553C>A	ENST00000262613.5	+	3	846	c.651C>A	c.(649-651)tcC>tcA	p.S217S	SLC9A3R1_ENST00000413388.2_Silent_p.S61S	NM_004252.4	NP_004243.1	O14745	NHRF1_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1	217	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|bile acid secretion (GO:0032782)|cellular phosphate ion homeostasis (GO:0030643)|cellular protein localization (GO:0034613)|glutathione transport (GO:0034635)|microvillus assembly (GO:0030033)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of sodium:proton antiporter activity (GO:0032416)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|protein complex assembly (GO:0006461)|regulation of excretion (GO:0044062)|regulation of protein kinase activity (GO:0045859)|regulation of sodium:proton antiporter activity (GO:0032415)|renal absorption (GO:0070293)|renal phosphate ion absorption (GO:0097291)|renal sodium ion transport (GO:0003096)|Wnt signaling pathway (GO:0016055)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|membrane raft (GO:0045121)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle (GO:0031982)	beta-2 adrenergic receptor binding (GO:0031698)|beta-catenin binding (GO:0008013)|chloride channel regulator activity (GO:0017081)|growth factor receptor binding (GO:0070851)|PDZ domain binding (GO:0030165)|phosphatase binding (GO:0019902)|protein self-association (GO:0043621)|receptor binding (GO:0005102)			large_intestine(4)	4						ACGTGGTGTCCGCCATCAGGG	0.622																																						uc002jlo.3																			0				large_intestine(4)	4						c.(649-651)tcC>tcA		Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1 (SLC9A3R1), mRNA.							61.0	55.0	57.0					17																	72759553		2201	4300	6501	SO:0001819	synonymous_variant	9368				Wnt receptor signaling pathway|apoptosis|bile acid secretion|glutathione transport|microvillus assembly|negative regulation of ERK1 and ERK2 cascade|negative regulation of cell proliferation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|protein complex assembly|regulation of protein kinase activity|regulation of sodium:hydrogen antiporter activity|renal absorption	actin cytoskeleton|apical plasma membrane|centrosome|endomembrane system|filopodium|intracellular membrane-bounded organelle|microvillus membrane|ruffle	PDZ domain binding|beta-2 adrenergic receptor binding|beta-catenin binding|chloride channel regulator activity|growth factor receptor binding|phosphatase binding|protein self-association	g.chr17:72759553C>A	AF015926	CCDS11705.1	17q25.1	2014-09-04	2012-03-22		ENSG00000109062	ENSG00000109062			11075	protein-coding gene	gene with protein product		604990	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 1"", ""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 1"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1"""			9314537, 9430655	Standard	NM_004252		Approved	NHERF, EBP50	uc002jlo.4	O14745	OTTHUMG00000178863	ENST00000262613.5:c.651C>A	17.37:g.72759553C>A			Somatic				SLC9A3R1_uc002jln.1_Non-coding_Transcript	p.S217S	NM_004252	NP_004243	WXS	Illumina GAIIx	Phase_I	O14745	NHRF1_HUMAN			2	874	+			217			PDZ 2.		B3KY21|O43552|Q86WQ5	Silent	SNP	ENST00000262613.5	37	c.651C>A	CCDS11705.1																																																																																				0.622	SLC9A3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443671.1			7	14	0	0	0	1	0	7	14				
MAGED1	9500	broad.mit.edu	37	X	51637442	51637442	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chrX:51637442delC	ENST00000375722.1	+	2	294	c.42delC	c.(40-42)ttcfs	p.F14fs	MAGED1_ENST00000326587.7_Frame_Shift_Del_p.F14fs|MAGED1_ENST00000375772.3_Frame_Shift_Del_p.F14fs|MAGED1_ENST00000375695.2_Frame_Shift_Del_p.F14fs|MAGED1_ENST00000494718.1_3'UTR			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	14					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					TCCTCGGCTTCCAGGTGAGAT	0.657										Multiple Myeloma(10;0.10)	OREG0019786	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004dpn.3																			0				breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32						c.(40-42)ttcfs		Homo sapiens melanoma antigen family D, 1 (MAGED1), transcript variant 1, mRNA.							27.0	24.0	25.0					X																	51637442		2203	4297	6500	SO:0001589	frameshift_variant	9500				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding	g.chrX:51637442delC	AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.42delC	X.37:g.51637442delC	ENSP00000364874:p.Phe14fs	Multiple Myeloma(10;0.10)	Somatic	OREG0019786	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	978	MAGED1_uc004dpm.3_Frame_Shift_Del_p.F14fs|MAGED1_uc004dpo.3_Frame_Shift_Del_p.F14fs|MAGED1_uc011mnx.1_Frame_Shift_Del_p.F14fs	p.F14fs	NM_001005333	NP_001005333	WXS	Illumina GAIIx	Phase_I	Q9Y5V3	MAGD1_HUMAN			1	232	+	Ovarian(276;0.236)		0					Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Frame_Shift_Del	DEL	ENST00000375722.1	37	c.42delC	CCDS14337.1																																																																																				0.657	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332		2	4						2	4	---	---	---	---
