#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
ALX3	257	broad.mit.edu	37	1	110604148	110604148	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr1:110604148C>T	ENST00000369792.4	-	3	719	c.632G>A	c.(631-633)cGc>cAc	p.R211H	RP4-773N10.4_ENST00000554749.1_RNA|RP4-773N10.4_ENST00000596959.1_RNA	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	211					embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|pattern specification process (GO:0007389)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		ATAACGCTCGCGCTTCCGCCA	0.622																																						ENST00000369792.4																			0				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						c.(631-633)cGc>cAc		ALX homeobox 3							65.0	65.0	65.0					1																	110604148		2203	4300	6503	SO:0001583	missense	257					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:110604148C>T	AF008203	CCDS819.1	1p13.3	2014-02-04	2008-11-04		ENSG00000156150	ENSG00000156150		"""Homeoboxes / PRD class"""	449	protein-coding gene	gene with protein product		606014	"""aristaless-like homeobox 3"", ""frontonasal dysplasia"""	FND		15226305, 11807986, 19409524	Standard	NM_006492		Approved		uc001dzb.3	O95076	OTTHUMG00000011650	ENST00000369792.4:c.632G>A	1.37:g.110604148C>T	ENSP00000358807:p.Arg211His					RP4-773N10.4_ENST00000554749.1_RNA	p.R211H	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)	3	719	-		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	211					O95075|Q5T8M4	Missense_Mutation	SNP	ENST00000369792.4	37	c.632G>A	CCDS819.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484194	0.84854	.	.	ENSG00000156150	ENST00000369792	D	0.95853	-3.83	4.98	4.98	0.66077	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.000000	0.64402	D	0.000001	D	0.97461	0.9169	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98316	1.0526	10	0.87932	D	0	.	16.8274	0.85935	0.0:1.0:0.0:0.0	.	211	O95076	ALX3_HUMAN	H	211	ENSP00000358807:R211H	ENSP00000358807:R211H	R	-	2	0	ALX3	110405671	1.000000	0.71417	0.939000	0.37840	0.971000	0.66376	7.794000	0.85869	2.333000	0.79357	0.655000	0.94253	CGC		0.622	ALX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032232.2	NM_006492		23	42	0	0	0	1	0	23	42				
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																0							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		4	145	0	0	0	1	0	4	145				
CCT8L2	150160	broad.mit.edu	37	22	17071981	17071981	+	Missense_Mutation	SNP	T	T	A			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr22:17071981T>A	ENST00000359963.3	-	1	1719	c.1460A>T	c.(1459-1461)aAt>aTt	p.N487I		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	487					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CTGGGCCACATTTATTATCCC	0.517																																						ENST00000359963.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(1459-1461)aAt>aTt		chaperonin containing TCP1, subunit 8 (theta)-like 2							137.0	132.0	134.0					22																	17071981		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17071981T>A	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.1460A>T	22.37:g.17071981T>A	ENSP00000353048:p.Asn487Ile						p.N487I	NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN			1	1719	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	487					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.1460A>T	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	t	10.13	1.266780	0.23136	.	.	ENSG00000198445	ENST00000359963	T	0.80480	-1.38	1.98	1.98	0.26296	.	0.000000	0.42172	U	0.000748	D	0.84889	0.5572	M	0.65498	2.005	0.21325	N	0.999723	D	0.76494	0.999	D	0.72982	0.979	T	0.73433	-0.3984	10	0.87932	D	0	-21.6851	5.9203	0.19078	0.0:0.0:0.0:1.0	.	487	Q96SF2	TCPQM_HUMAN	I	487	ENSP00000353048:N487I	ENSP00000353048:N487I	N	-	2	0	CCT8L2	15451981	0.030000	0.19436	0.031000	0.17742	0.249000	0.25844	3.036000	0.49767	0.922000	0.37019	0.312000	0.20444	AAT		0.517	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			64	92	0	0	0	1	0	64	92				
GLI1	2735	broad.mit.edu	37	12	57865272	57865272	+	Missense_Mutation	SNP	G	G	T			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr12:57865272G>T	ENST00000228682.2	+	12	2840	c.2749G>T	c.(2749-2751)Gat>Tat	p.D917Y	GLI1_ENST00000546141.1_Missense_Mutation_p.D876Y|GLI1_ENST00000543426.1_Missense_Mutation_p.D789Y	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	917					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GGGCAGGGAAGATGCCCCCGC	0.562																																					Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(2749-2751)Gat>Tat		GLI family zinc finger 1							36.0	40.0	38.0					12																	57865272		2203	4300	6503	SO:0001583	missense	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57865272G>T		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.2749G>T	12.37:g.57865272G>T	ENSP00000228682:p.Asp917Tyr					GLI1_ENST00000543426.1_Missense_Mutation_p.D789Y|GLI1_ENST00000546141.1_Missense_Mutation_p.D876Y	p.D917Y	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		12	2840	+			917					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.2749G>T	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.475442	0.26511	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	T;T;T;T	0.14022	2.65;2.54;2.61;2.61	4.53	3.61	0.41365	.	0.879530	0.09605	N	0.779686	T	0.09069	0.0224	N	0.22421	0.69	0.09310	N	1	P	0.44195	0.828	B	0.44085	0.44	T	0.03184	-1.1063	10	0.02654	T	1	.	6.231	0.20734	0.0995:0.1917:0.7088:0.0	.	917	P08151	GLI1_HUMAN	Y	789;917;876;876;385	ENSP00000437607:D789Y;ENSP00000228682:D917Y;ENSP00000441006:D876Y;ENSP00000434408:D876Y	ENSP00000228682:D917Y	D	+	1	0	GLI1	56151539	0.003000	0.15002	0.524000	0.27887	0.693000	0.40251	0.718000	0.25866	1.221000	0.43506	0.555000	0.69702	GAT		0.562	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		5	64	1	0	1	1	1	5	64				
GLUD1P2	100381203	broad.mit.edu	37	10	48968566	48968566	+	RNA	SNP	A	A	G	rs201727873		TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr10:48968566A>G	ENST00000594520.1	+	0	723									glutamate dehydrogenase 1 pseudogene 2																		ACAGGATAACAAACTGGAAAA	0.318																																						ENST00000594520.1																			0																																																			0							g.chr10:48968566A>G	X66313, X66315, X66319		10q11.22	2013-02-15	2010-01-18	2010-01-18	ENSG00000227781				4337	pseudogene	pseudogene			"""glutamate dehydrogenase pseudogene 2"""	GLUDP2		8486350	Standard			Approved				OTTHUMG00000018156		10.37:g.48968566A>G														0	723	+									RNA	SNP	ENST00000594520.1	37																																																																																						0.318	GLUD1P2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000461126.1	NG_016765		4	40	0	0	0	1	0	4	40				
PDE1B	5153	broad.mit.edu	37	12	54966490	54966490	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr12:54966490A>G	ENST00000243052.3	+	7	1136	c.700A>G	c.(700-702)Aca>Gca	p.T234A	PDE1B_ENST00000538346.1_Missense_Mutation_p.T193A|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.T214A	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	234	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	TGTTACCCAGACAGTCCATTG	0.512																																						ENST00000243052.3																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						c.(700-702)Aca>Gca		phosphodiesterase 1B, calmodulin-dependent							311.0	289.0	297.0					12																	54966490		2203	4300	6503	SO:0001583	missense	0				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:54966490A>G	U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.700A>G	12.37:g.54966490A>G	ENSP00000243052:p.Thr234Ala					PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.T214A|PDE1B_ENST00000538346.1_Missense_Mutation_p.T193A	p.T234A	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN			7	1136	+			234			Catalytic (By similarity).		Q92825|Q96KP3	Missense_Mutation	SNP	ENST00000243052.3	37	c.700A>G	CCDS8882.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.437468	0.83885	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	T;T;T	0.81330	-1.48;-1.48;-1.48	4.98	4.98	0.66077	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.113900	0.56097	D	0.000023	D	0.84696	0.5529	L	0.41079	1.255	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.991;0.995	D	0.86168	0.1598	10	0.87932	D	0	.	12.9592	0.58447	1.0:0.0:0.0:0.0	.	214;234	Q01064-2;Q01064	.;PDE1B_HUMAN	A	234;193;214	ENSP00000243052:T234A;ENSP00000442559:T193A;ENSP00000448519:T214A	ENSP00000243052:T234A	T	+	1	0	PDE1B	53252757	1.000000	0.71417	0.997000	0.53966	0.822000	0.46500	8.979000	0.93455	2.234000	0.73211	0.533000	0.62120	ACA		0.512	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			32	301	0	0	0	1	0	32	301				
PTPRC	5788	broad.mit.edu	37	1	198721481	198721481	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr1:198721481T>C	ENST00000367376.2	+	30	3476	c.3305T>C	c.(3304-3306)tTt>tCt	p.F1102S	PTPRC_ENST00000352140.3_Missense_Mutation_p.F1054S|PTPRC_ENST00000348564.6_Missense_Mutation_p.F943S|PTPRC_ENST00000594404.1_Missense_Mutation_p.F941S|PTPRC_ENST00000442510.2_Missense_Mutation_p.F1104S	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1102	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CTTCGTGTCTTTGAACTGAGA	0.373																																						ENST00000367376.2																			0				breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						c.(3304-3306)tTt>tCt		protein tyrosine phosphatase, receptor type, C							105.0	99.0	101.0					1																	198721481		2203	4300	6503	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198721481T>C	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.3305T>C	1.37:g.198721481T>C	ENSP00000356346:p.Phe1102Ser					PTPRC_ENST00000442510.2_Missense_Mutation_p.F1104S|PTPRC_ENST00000352140.3_Missense_Mutation_p.F1054S|PTPRC_ENST00000348564.6_Missense_Mutation_p.F943S|PTPRC_ENST00000594404.1_Missense_Mutation_p.F941S	p.F1102S	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN			30	3476	+			1102			Tyrosine-protein phosphatase 2.		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.3305T>C		.	.	.	.	.	.	.	.	.	.	T	24.0	4.486089	0.84854	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	T	0.16324	2.35	5.92	5.92	0.95590	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.48286	D	0.000189	T	0.59715	0.2214	H	0.97783	4.075	0.54753	D	0.999987	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79784	0.984;0.993;0.984	T	0.76143	-0.3067	10	0.87932	D	0	.	16.0396	0.80654	0.0:0.0:0.0:1.0	.	943;1054;1102	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	S	1104;1054;1102;941	ENSP00000193532:F1054S	ENSP00000306782:F941S	F	+	2	0	PTPRC	196988104	1.000000	0.71417	0.981000	0.43875	0.915000	0.54546	6.697000	0.74603	2.277000	0.76020	0.528000	0.53228	TTT		0.373	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				16	26	0	0	0	1	0	16	26				
RYR3	6263	broad.mit.edu	37	15	33795933	33795933	+	Silent	SNP	C	C	T	rs375622890		TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr15:33795933C>T	ENST00000389232.4	+	3	343	c.273C>T	c.(271-273)ggC>ggT	p.G91G	RYR3_ENST00000415757.3_Silent_p.G91G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	91					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAAATGGCGGCGAAGGGGTGA	0.478																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(271-273)ggC>ggT		ryanodine receptor 3		C		1,3811		0,1,1905	45.0	47.0	47.0		273	-7.1	0.6	15		47	0,8254		0,0,4127	no	coding-synonymous	RYR3	NM_001036.3		0,1,6032	TT,TC,CC		0.0,0.0262,0.0083		91/4871	33795933	1,12065	1906	4127	6033	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33795933C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.273C>T	15.37:g.33795933C>T						RYR3_ENST00000415757.3_Silent_p.G91G	p.G91G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	3	343	+		all_lung(180;7.18e-09)	91					O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.273C>T	CCDS45210.1																																																																																				0.478	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			6	15	0	0	0	1	0	6	15				
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257		TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y	ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	629							ion channel inhibitor activity (GO:0008200)	p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D629Y(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1885-1887)Gat>Tat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593016C>A	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1885G>T	2.37:g.96593016C>A	ENSP00000403302:p.Asp629Tyr						p.D629Y							28	1969	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1885G>T		.	.	.	.	.	.	.	.	.	.	c	9.675	1.147829	0.21288	.	.	ENSG00000174501	ENST00000456556	T	0.77489	-1.1	0.578	0.578	0.17391	.	.	.	.	.	T	0.79540	0.4463	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.70428	-0.4874	6	0.72032	D	0.01	.	.	.	.	.	.	.	.	Y	629	ENSP00000403302:D629Y	ENSP00000403302:D629Y	D	-	1	0	AC073995.2	95956743	0.004000	0.15560	0.041000	0.18516	0.061000	0.15899	0.559000	0.23485	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		3	37	1	0	0.00909568	1	0.00964693	3	37				
PNPLA4	8228	broad.mit.edu	37	X	7880088	7880088	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chrX:7880088A>G	ENST00000381042.4	-	5	628	c.458T>C	c.(457-459)cTa>cCa	p.L153P	PNPLA4_ENST00000537427.1_Missense_Mutation_p.L66P|PNPLA4_ENST00000444736.1_Missense_Mutation_p.L153P	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	153	Patatin.				lipid catabolic process (GO:0016042)		triglyceride lipase activity (GO:0004806)			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				GTATTCCACTAGCTTCAGTCC	0.378																																						ENST00000381042.4																			0				kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						c.(457-459)cTa>cCa		patatin-like phospholipase domain containing 4							121.0	106.0	111.0					X																	7880088		2203	4299	6502	SO:0001583	missense	8228				lipid catabolic process		triglyceride lipase activity	g.chrX:7880088A>G	U03886	CCDS14129.1, CCDS55368.1	Xp22.3	2014-03-14			ENSG00000006757	ENSG00000006757	3.1.1.3	"""Patatin-like phospholipase domain containing"""	24887	protein-coding gene	gene with protein product		300102				7806223, 16799181, 19029121	Standard	NM_004650		Approved	DXS1283E, GS2, iPLA2eta	uc011mhr.1	P41247	OTTHUMG00000021103	ENST00000381042.4:c.458T>C	X.37:g.7880088A>G	ENSP00000370430:p.Leu153Pro					PNPLA4_ENST00000444736.1_Missense_Mutation_p.L153P|PNPLA4_ENST00000537427.1_Missense_Mutation_p.L66P	p.L153P	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN			5	628	-		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)	153			Patatin.		A8K1H3|B4E362|Q8WW83	Missense_Mutation	SNP	ENST00000381042.4	37	c.458T>C	CCDS14129.1	.	.	.	.	.	.	.	.	.	.	G	0.027	-1.362058	0.01235	.	.	ENSG00000006757	ENST00000381042;ENST00000444736;ENST00000537427;ENST00000442940	T;T;T;T	0.60299	0.2;0.2;0.2;0.2	4.41	3.54	0.40534	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.463963	0.22524	N	0.058940	T	0.11239	0.0274	N	0.00018	-2.82	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40720	-0.9548	10	0.02654	T	1	-2.7291	7.7431	0.28853	0.2065:0.0:0.7935:0.0	.	153	P41247	PLPL4_HUMAN	P	153;153;66;153	ENSP00000370430:L153P;ENSP00000415245:L153P;ENSP00000443157:L66P;ENSP00000406698:L153P	ENSP00000370430:L153P	L	-	2	0	PNPLA4	7840088	1.000000	0.71417	0.000000	0.03702	0.876000	0.50452	5.132000	0.64758	0.221000	0.20879	-0.170000	0.13304	CTA		0.378	PNPLA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055687.1	NM_004650		34	5	0	0	0	1	0	34	5				
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	lincRNA	SNP	C	C	G	rs199933143		TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713773C>G																													1.37:g.142713773C>G														0	832	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			5	50	0	0	0	1	0	5	50				
TBX5	6910	broad.mit.edu	37	12	114841632	114841632	+	Silent	SNP	G	G	A			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr12:114841632G>A	ENST00000310346.4	-	2	738	c.72C>T	c.(70-72)tgC>tgT	p.C24C	TBX5_ENST00000349716.5_Intron|TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000405440.2_Silent_p.C24C|TBX5_ENST00000526441.1_Silent_p.C24C	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	24				GFGLAHTPLEPDAKDLPCDSKPESALGAPSKSPSSPQAAFT QQ -> ALAGAHLWSLTQKTCLRFEPRARSGPPASPPGRPR SRLHPA (in Ref. 1; CAA70592). {ECO:0000305}.	apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GTTTCGAATCGCAGGGCAGGT	0.701																																					NSCLC(152;1358 1980 4050 23898 40356)	ENST00000310346.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(70-72)tgC>tgT		T-box 5							33.0	41.0	39.0					12																	114841632		2203	4299	6502	SO:0001819	synonymous_variant	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114841632G>A	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.72C>T	12.37:g.114841632G>A						TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000526441.1_Silent_p.C24C|TBX5_ENST00000349716.5_Intron|TBX5_ENST00000405440.2_Silent_p.C24C	p.C24C	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	2	738	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		24	GFGLAHTPLEPDAKDLPCDSKPESALGAPSKSPSSPQAAFT QQ -> ALAGAHLWSLTQKTCLRFEPRARSGPPASPPGRPR SRLHPA (in Ref. 1; CAA70592).				A6ND77|O15301|Q96TB0|Q9Y4I2	Silent	SNP	ENST00000310346.4	37	c.72C>T	CCDS9173.1																																																																																				0.701	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		25	41	0	0	0	1	0	25	41				
AMZ1	155185	broad.mit.edu	37	7	2752278	2752278	+	Missense_Mutation	SNP	A	A	C	rs148314719	byFrequency	TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr7:2752278A>C	ENST00000312371.4	+	7	1631	c.1263A>C	c.(1261-1263)gaA>gaC	p.E421D	AMZ1_ENST00000489665.1_Intron|AMZ1_ENST00000407112.1_3'UTR	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	421							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		TGCAGCGGGAAGTGGCAGAGG	0.692																																						ENST00000312371.4																			0				breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16						c.(1261-1263)gaA>gaC		archaelysin family metallopeptidase 1		A	ASP/GLU	8,4396	12.9+/-30.5	0,8,2194	43.0	41.0	42.0		1263	-5.4	0.0	7	dbSNP_134	42	0,8596		0,0,4298	yes	missense	AMZ1	NM_133463.1	45	0,8,6492	CC,CA,AA		0.0,0.1817,0.0615	benign	421/499	2752278	8,12992	2202	4298	6500	SO:0001583	missense	155185						metallopeptidase activity|zinc ion binding	g.chr7:2752278A>C	AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"""archaemetzincin-1"""	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.1263A>C	7.37:g.2752278A>C	ENSP00000308149:p.Glu421Asp					AMZ1_ENST00000489665.1_Intron|AMZ1_ENST00000407112.1_3'UTR	p.E421D	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)	7	1631	+		Ovarian(82;0.0779)	421					B3KRS0|Q8TF51	Missense_Mutation	SNP	ENST00000312371.4	37	c.1263A>C	CCDS34589.1	.	.	.	.	.	.	.	.	.	.	A	5.497	0.276691	0.10403	0.001817	0.0	ENSG00000174945	ENST00000312371	T	0.24151	1.87	4.67	-5.41	0.02648	.	0.505441	0.18590	N	0.136751	T	0.10594	0.0259	L	0.29908	0.895	0.28043	N	0.933671	B	0.02656	0.0	B	0.04013	0.001	T	0.19679	-1.0298	10	0.20519	T	0.43	-6.246	1.5163	0.02506	0.2593:0.3826:0.1573:0.2008	.	421	Q400G9	AMZ1_HUMAN	D	421	ENSP00000308149:E421D	ENSP00000308149:E421D	E	+	3	2	AMZ1	2718804	0.006000	0.16342	0.002000	0.10522	0.061000	0.15899	-2.333000	0.01108	-1.159000	0.02807	0.379000	0.24179	GAA		0.692	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1	NM_133463		16	25	0	0	0	1	0	16	25				
SLC18A1	6570	broad.mit.edu	37	8	20004825	20004825	+	Missense_Mutation	SNP	C	C	T	rs201904218	byFrequency	TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr8:20004825C>T	ENST00000276373.5	-	15	1674	c.1408G>A	c.(1408-1410)Gtc>Atc	p.V470I	SLC18A1_ENST00000519026.1_Missense_Mutation_p.V438I|SLC18A1_ENST00000381608.4_Intron|SLC18A1_ENST00000437980.1_Intron|SLC18A1_ENST00000440926.1_Missense_Mutation_p.V470I|SLC18A1_ENST00000265808.7_Missense_Mutation_p.V438I	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	470					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	GGAGCATAGACGATGTTGATG	0.512													C|||	2	0.000399361	0.0	0.0	5008	,	,		19889	0.0		0.002	False		,,,				2504	0.0					ENST00000440926.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1408-1410)Gtc>Atc		solute carrier family 18 (vesicular monoamine transporter), member 1		C	,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	94.0	81.0	85.0		,1408,1312,1408	-6.6	0.0	8		85	1,8599	1.2+/-3.3	0,1,4299	yes	intron,missense,missense,missense	SLC18A1	NM_001142325.1,NM_003053.3,NM_001142324.1,NM_001135691.2	,29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,benign,benign,benign	,470/526,438/494,470/526	20004825	1,13005	2203	4300	6503	SO:0001583	missense	6570				neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity	g.chr8:20004825C>T		CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"""Solute carriers"""	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.1408G>A	8.37:g.20004825C>T	ENSP00000276373:p.Val470Ile					SLC18A1_ENST00000265808.7_Missense_Mutation_p.V438I|SLC18A1_ENST00000519026.1_Missense_Mutation_p.V438I|SLC18A1_ENST00000276373.5_Missense_Mutation_p.V470I|SLC18A1_ENST00000437980.1_Intron|SLC18A1_ENST00000381608.4_Intron	p.V470I	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN		Colorectal(74;0.0747)	16	1878	-			470					E9PDJ5|Q9BRE4	Missense_Mutation	SNP	ENST00000276373.5	37	c.1408G>A	CCDS6013.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	10.31	1.314971	0.23908	0.0	1.16E-4	ENSG00000036565	ENST00000265808;ENST00000276373;ENST00000440926;ENST00000519026	T;T;T;T	0.80480	0.48;-1.38;-1.38;0.48	5.02	-6.63	0.01807	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.953950	0.01968	N	0.043847	T	0.51109	0.1655	N	0.01267	-0.92	0.09310	N	0.999999	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.001	T	0.51787	-0.8661	10	0.24483	T	0.36	-0.0164	6.8568	0.24044	0.0:0.2671:0.3064:0.4265	.	438;470	E9PDJ5;P54219	.;VMAT1_HUMAN	I	438;470;470;438	ENSP00000265808:V438I;ENSP00000276373:V470I;ENSP00000387549:V470I;ENSP00000429664:V438I	ENSP00000265808:V438I	V	-	1	0	SLC18A1	20049105	0.000000	0.05858	0.037000	0.18230	0.943000	0.58893	-3.042000	0.00632	-1.782000	0.01275	-1.012000	0.02466	GTC		0.512	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214106.1			13	51	0	0	0	1	0	13	51				
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	lincRNA	SNP	A	A	G	rs201023195		TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr1:142713774A>G	ENST00000610091.1	-	0	1884																											CTTTTTCCACATTGTCATTTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713774A>G																													1.37:g.142713774A>G														0	831	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			5	50	0	0	0	1	0	5	50				
MC3R	4159	broad.mit.edu	37	20	54823920	54823920	+	Silent	SNP	G	G	T			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr20:54823920G>T	ENST00000243911.2	+	1	133	c.21G>T	c.(19-21)ctG>ctT	p.L7L		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	7					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CGTGCTGCCTGCCCTCTGTTC	0.567																																						ENST00000243911.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26						c.(19-21)ctG>ctT		melanocortin 3 receptor							144.0	145.0	145.0					20																	54823920		2203	4300	6503	SO:0001819	synonymous_variant	4159				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	g.chr20:54823920G>T		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"""GPCR / Class A : Melanocortin receptors"""	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.21G>T	20.37:g.54823920G>T							p.L7L	NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	Colorectal(105;0.202)		1	133	+			44					Q4KN27|Q9H517	Silent	SNP	ENST00000243911.2	37	c.21G>T	CCDS13449.2																																																																																				0.567	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2			66	117	1	0	1.53134e-21	1	1.84817e-21	66	117				
CLPSL1	340204	broad.mit.edu	37	6	35754858	35754858	+	Silent	SNP	C	C	T			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr6:35754858C>T	ENST00000373861.5	+	2	277	c.183C>T	c.(181-183)tgC>tgT	p.C61C	CLPSL1_ENST00000542261.1_Silent_p.C60C			A2RUU4	COLL1_HUMAN	colipase-like 1	61					digestion (GO:0007586)|lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	enzyme activator activity (GO:0008047)										AGTCGCACTGCGCGGAGAAGG	0.662																																						ENST00000373861.5																			0											c.(181-183)tgC>tgT		colipase-like 1							26.0	35.0	32.0					6																	35754858		2154	4251	6405	SO:0001819	synonymous_variant	340204				digestion|lipid catabolic process	extracellular region	enzyme activator activity	g.chr6:35754858C>T		CCDS43456.1	6p21.31	2014-01-28	2012-02-06	2012-02-06	ENSG00000204140	ENSG00000204140			21251	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 127"""	C6orf127			Standard	NM_001010886		Approved	dJ510O8.6	uc003old.4	A2RUU4	OTTHUMG00000014582	ENST00000373861.5:c.183C>T	6.37:g.35754858C>T						CLPSL1_ENST00000542261.1_Silent_p.C60C	p.C61C			A2RUU4	CF127_HUMAN			2	277	+			61					A7E2T6|B2RPE2|B5G4V2|B6ZDM9|Q5T9G1	Silent	SNP	ENST00000373861.5	37	c.183C>T	CCDS43456.1																																																																																				0.662	CLPSL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040317.2	NM_001010886		6	32	0	0	0	1	0	6	32				
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																						ENST00000557932.1																			10	Substitution - Missense(10)	p.G374S(10)	kidney(7)|prostate(2)|endometrium(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														0							g.chr15:102515299G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A														0	1145	+									RNA	SNP	ENST00000557932.1	37			.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		3	34	0	0	0	1	0	3	34				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		6	37	0	0	0	1	0	6	37				
PDZD2	23037	broad.mit.edu	37	5	32089674	32089674	+	Silent	SNP	G	G	A	rs150986745	byFrequency	TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr5:32089674G>A	ENST00000438447.1	+	20	6508	c.6120G>A	c.(6118-6120)gcG>gcA	p.A2040A	PDZD2_ENST00000282493.3_Silent_p.A2040A			O15018	PDZD2_HUMAN	PDZ domain containing 2	2040					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GTCCGGCAGCGTCTAGGAACG	0.647																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(6118-6120)gcG>gcA		PDZ domain containing 2		A		0,4406		0,0,2203	106.0	117.0	113.0		6120	-8.8	0.0	5	dbSNP_134	113	4,8594	801.6+/-407.4	0,4,4295	no	coding-synonymous	PDZD2	NM_178140.2		0,4,6498	AA,AG,GG		0.0465,0.0,0.0308		2040/2840	32089674	4,13000	2203	4299	6502	SO:0001819	synonymous_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32089674G>A	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.6120G>A	5.37:g.32089674G>A						PDZD2_ENST00000282493.3_Silent_p.A2040A	p.A2040A			O15018	PDZD2_HUMAN			20	6508	+			2040					Q9BXD4	Silent	SNP	ENST00000438447.1	37	c.6120G>A	CCDS34137.1																																																																																				0.647	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			12	248	0	0	0	1	0	12	248				
GRID2	2895	broad.mit.edu	37	4	94138039	94138039	+	Missense_Mutation	SNP	G	G	T			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr4:94138039G>T	ENST00000282020.4	+	6	1198	c.940G>T	c.(940-942)Gat>Tat	p.D314Y	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Missense_Mutation_p.D219Y	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	314					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		TGATCCAAAGGATCCATTTGC	0.413																																						ENST00000282020.4																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(940-942)Gat>Tat		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						139.0	140.0	140.0					4																	94138039		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94138039G>T	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.940G>T	4.37:g.94138039G>T	ENSP00000282020:p.Asp314Tyr					GRID2_ENST00000510992.1_Missense_Mutation_p.D219Y|GRID2_ENST00000505687.1_3'UTR	p.D314Y	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	6	1198	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	314					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.940G>T	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633431	0.67015	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	D;D	0.83250	-1.7;-1.7	4.76	3.92	0.45320	Extracellular ligand-binding receptor (1);	0.218432	0.38897	N	0.001522	D	0.82476	0.5045	N	0.22421	0.69	0.50313	D	0.999867	D;D	0.59767	0.986;0.986	P;P	0.61397	0.888;0.888	D	0.83549	0.0100	10	0.59425	D	0.04	.	12.1217	0.53895	0.0839:0.0:0.9161:0.0	.	219;314	E9PH24;O43424	.;GRID2_HUMAN	Y	314;219	ENSP00000282020:D314Y;ENSP00000421257:D219Y	ENSP00000282020:D314Y	D	+	1	0	GRID2	94357062	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	4.092000	0.57707	1.134000	0.42165	0.591000	0.81541	GAT		0.413	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			50	66	1	0	1.67886e-27	1	2.09857e-27	50	66				
CNTNAP1	8506	broad.mit.edu	37	17	40843294	40843294	+	Silent	SNP	C	C	T	rs144310425		TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr17:40843294C>T	ENST00000264638.4	+	14	2416	c.2199C>T	c.(2197-2199)gaC>gaT	p.D733D	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	733	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GCAACTGTGACGCTGACCAGC	0.632																																						ENST00000264638.4																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(2197-2199)gaC>gaT		contactin associated protein 1		C		2,4404	4.2+/-10.8	0,2,2201	110.0	112.0	111.0		2199	-5.7	0.8	17	dbSNP_134	111	0,8600		0,0,4300	no	coding-synonymous	CNTNAP1	NM_003632.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		733/1385	40843294	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40843294C>T	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.2199C>T	17.37:g.40843294C>T						CTD-3193K9.3_ENST00000592440.1_RNA	p.D733D	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	14	2416	+		Breast(137;0.000143)	733			Fibrinogen C-terminal.			Silent	SNP	ENST00000264638.4	37	c.2199C>T	CCDS11436.1																																																																																				0.632	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		65	109	0	0	0	1	0	65	109				
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T	ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	634							ion channel inhibitor activity (GO:0008200)	p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.I634T(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1900-1902)aTa>aCa		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593000A>G	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1901T>C	2.37:g.96593000A>G	ENSP00000403302:p.Ile634Thr						p.I634T							28	1985	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1901T>C		.	.	.	.	.	.	.	.	.	.	a	7.838	0.721224	0.15372	.	.	ENSG00000174501	ENST00000456556	T	0.77229	-1.08	0.578	-1.16	0.09678	.	.	.	.	.	T	0.70718	0.3256	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.56153	-0.8026	6	0.08381	T	0.77	.	.	.	.	.	.	.	.	T	634	ENSP00000403302:I634T	ENSP00000403302:I634T	I	-	2	0	AC073995.2	95956727	0.016000	0.18221	0.004000	0.12327	0.101000	0.19017	0.588000	0.23924	-0.580000	0.05944	0.163000	0.16589	ATA		0.338	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		3	36	0	0	0	1	0	3	36				
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	3'UTR	SNP	T	T	C	rs1064849		TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844763T>C																												ENST00000412938.1:c.*3010T>C	22.37:g.18844763T>C														0	3013	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.562	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			3	13	0	0	0	1	0	3	13				
TAB2	23118	broad.mit.edu	37	6	149700269	149700269	+	Silent	SNP	A	A	G			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr6:149700269A>G	ENST00000367456.1	+	4	1795	c.1218A>G	c.(1216-1218)acA>acG	p.T406T	TAB2_ENST00000392282.1_Silent_p.T406T|TAB2_ENST00000536230.1_Silent_p.T374T|TAB2_ENST00000286332.5_Silent_p.T406T|TAB2_ENST00000538427.1_Silent_p.T406T			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	406					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						ATCAGCCCACACTCTTCATAT	0.502																																						ENST00000367456.1																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						c.(1216-1218)acA>acG		TGF-beta activated kinase 1/MAP3K7 binding protein 2							74.0	69.0	71.0					6																	149700269		2203	4300	6503	SO:0001819	synonymous_variant	23118				activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding	g.chr6:149700269A>G	AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 2"""	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.1218A>G	6.37:g.149700269A>G						TAB2_ENST00000538427.1_Silent_p.T406T|TAB2_ENST00000536230.1_Silent_p.T374T|TAB2_ENST00000392282.1_Silent_p.T406T|TAB2_ENST00000286332.5_Silent_p.T406T	p.T406T			Q9NYJ8	TAB2_HUMAN			4	1795	+			406					B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Silent	SNP	ENST00000367456.1	37	c.1218A>G	CCDS5214.1																																																																																				0.502	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042633.3			13	25	0	0	0	1	0	13	25				
CACNB2	783	broad.mit.edu	37	10	18429692	18429692	+	Silent	SNP	G	G	T			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr10:18429692G>T	ENST00000324631.7	+	1	87	c.27G>T	c.(25-27)tcG>tcT	p.S9S	CACNB2_ENST00000377328.1_Silent_p.S9S|CACNB2_ENST00000352115.6_Silent_p.S9S|CACNB2_ENST00000282343.8_5'Flank|CACNB2_ENST00000377331.2_5'Flank	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	9					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGTCCAAGTCGCCTCCCACAG	0.711																																						ENST00000324631.7																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31						c.(25-27)tcG>tcT		calcium channel, voltage-dependent, beta 2 subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						7.0	11.0	10.0					10																	18429692		2179	4258	6437	SO:0001819	synonymous_variant	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18429692G>T	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.27G>T	10.37:g.18429692G>T						CACNB2_ENST00000352115.6_Silent_p.S9S|CACNB2_ENST00000377328.1_Silent_p.S9S	p.S9S	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN			1	87	+			9					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Silent	SNP	ENST00000324631.7	37	c.27G>T	CCDS7125.1																																																																																				0.711	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		9	2	1	0	0.000442599	1	0.000484093	9	2				
OTOF	9381	broad.mit.edu	37	2	26696866	26696866	+	Missense_Mutation	SNP	C	C	T	rs397517943		TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr2:26696866C>T	ENST00000272371.2	-	27	3527	c.3401G>A	c.(3400-3402)cGa>cAa	p.R1134Q	OTOF_ENST00000403946.3_Missense_Mutation_p.R1134Q|OTOF_ENST00000338581.6_Missense_Mutation_p.R387Q|OTOF_ENST00000402415.3_Missense_Mutation_p.R444Q|OTOF_ENST00000339598.3_Missense_Mutation_p.R387Q	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1134					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTCCACTCGGTACTTGCT	0.647																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(3400-3402)cGa>cAa		otoferlin							55.0	57.0	56.0					2																	26696866		2203	4298	6501	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26696866C>T	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.3401G>A	2.37:g.26696866C>T	ENSP00000272371:p.Arg1134Gln					OTOF_ENST00000338581.6_Missense_Mutation_p.R387Q|OTOF_ENST00000339598.3_Missense_Mutation_p.R387Q|OTOF_ENST00000403946.3_Missense_Mutation_p.R1134Q|OTOF_ENST00000402415.3_Missense_Mutation_p.R444Q	p.R1134Q	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			27	3527	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1134					B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.3401G>A	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	c	28.7	4.940463	0.92526	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61	5.45	4.57	0.56435	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.91212	0.7231	M	0.87456	2.885	0.54753	D	0.999982	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.994;0.999;0.999;0.998	D	0.90514	0.4483	10	0.30078	T	0.28	-8.0506	13.9385	0.64041	0.0:0.9259:0.0:0.0741	.	1134;387;444;387	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	Q	387;387;444;1134;1134	ENSP00000345137:R387Q;ENSP00000344521:R387Q;ENSP00000383906:R444Q;ENSP00000272371:R1134Q;ENSP00000385255:R1134Q	ENSP00000272371:R1134Q	R	-	2	0	OTOF	26550370	1.000000	0.71417	0.807000	0.32361	0.744000	0.42396	5.954000	0.70298	1.317000	0.45149	0.479000	0.44913	CGA		0.647	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			30	43	0	0	0	1	0	30	43				
VAV2	7410	broad.mit.edu	37	9	136857224	136857224	+	Missense_Mutation	SNP	G	G	T			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr9:136857224G>T	ENST00000371850.3	-	1	208	c.177C>A	c.(175-177)gaC>gaA	p.D59E	VAV2_ENST00000371851.1_Missense_Mutation_p.D59E|VAV2_ENST00000406606.3_Missense_Mutation_p.D59E|VAV2_ENST00000486113.1_5'UTR	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	59	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GGAAGTTGATGTCCTTGAGGT	0.726																																						ENST00000371851.1																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(175-177)gaC>gaA		vav 2 guanine nucleotide exchange factor							17.0	17.0	17.0					9																	136857224		2197	4295	6492	SO:0001583	missense	7410				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity	g.chr9:136857224G>T		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12658	protein-coding gene	gene with protein product		600428	"""vav 2 oncogene"""			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.177C>A	9.37:g.136857224G>T	ENSP00000360916:p.Asp59Glu					VAV2_ENST00000406606.3_Missense_Mutation_p.D59E|VAV2_ENST00000486113.1_5'UTR|VAV2_ENST00000371850.3_Missense_Mutation_p.D59E	p.D59E			P52735	VAV2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)	1	502	-			59			CH.		A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Missense_Mutation	SNP	ENST00000371850.3	37	c.177C>A	CCDS48053.1	.	.	.	.	.	.	.	.	.	.	G	3.925	-0.017362	0.07681	.	.	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000406606;ENST00000325440	T;T;T	0.58060	0.36;0.36;0.36	3.56	1.49	0.22878	Calponin homology domain (5);	0.000000	0.49305	U	0.000154	T	0.19366	0.0465	N	0.02379	-0.575	0.41562	D	0.988639	B;B	0.11235	0.004;0.001	B;B	0.17722	0.019;0.005	T	0.27157	-1.0082	10	0.02654	T	1	.	7.2601	0.26199	0.1021:0.1691:0.7287:0.0	.	59;59	P52735;P52735-3	VAV2_HUMAN;.	E	59	ENSP00000360916:D59E;ENSP00000360917:D59E;ENSP00000385362:D59E	ENSP00000317258:D59E	D	-	3	2	VAV2	135847045	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	2.763000	0.47605	0.406000	0.25560	0.205000	0.17691	GAC		0.726	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			8	17	1	0	0.000274275	1	0.000309665	8	17				
BCLAF1	9774	broad.mit.edu	37	6	136599814	136599814	+	Nonsense_Mutation	SNP	G	G	A	rs201790829		TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr6:136599814G>A	ENST00000531224.1	-	4	457	c.205C>T	c.(205-207)Cga>Tga	p.R69*	BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.R67*|BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.R67*|BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.R67*|BCLAF1_ENST00000530767.1_Nonsense_Mutation_p.R69*|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.R69*	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	69					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CCATAAGGTCGTCTCATTCCT	0.433																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(205-207)Cga>Tga		BCL2-associated transcription factor 1																																				SO:0001587	stop_gained	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136599814G>A	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.205C>T	6.37:g.136599814G>A	ENSP00000435210:p.Arg69*					BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.R67*|BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.R67*|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.R69*|BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.R67*|BCLAF1_ENST00000530767.1_Nonsense_Mutation_p.R69*	p.R69*	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	4	457	-	Colorectal(23;0.24)		69					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Nonsense_Mutation	SNP	ENST00000531224.1	37	c.205C>T	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.201669	0.79015	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	.	.	.	5.64	3.59	0.41128	.	0.000000	0.52532	D	0.000064	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.5909	16.2474	0.82450	0.0:0.0:0.7701:0.2299	.	.	.	.	X	69;67;69;69;67;67;69	.	ENSP00000229446:R67X	R	-	1	2	BCLAF1	136641507	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.151000	0.58105	1.318000	0.45170	0.557000	0.71058	CGA		0.433	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		9	79	0	0	0	1	0	9	79				
LRIG2	9860	broad.mit.edu	37	1	113658960	113658960	+	Missense_Mutation	SNP	C	C	T	rs371835362		TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr1:113658960C>T	ENST00000361127.5	+	16	2780	c.2582C>T	c.(2581-2583)aCg>aTg	p.T861M	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	861					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TCCCAAGGAACGCTGTCTGAG	0.488																																						ENST00000361127.4																			0				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31						c.(2581-2583)aCg>aTg		leucine-rich repeats and immunoglobulin-like domains 2		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	81.0	74.0	76.0		2582	5.9	1.0	1		76	0,8600		0,0,4300	no	missense	LRIG2	NM_014813.1	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	861/1066	113658960	1,13005	2203	4300	6503	SO:0001583	missense	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113658960C>T	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.2582C>T	1.37:g.113658960C>T	ENSP00000355396:p.Thr861Met					LRIG2_ENST00000492207.1_3'UTR	p.T861M	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	16	2780	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	861					Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	37	c.2582C>T	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	C	31	5.104072	0.94245	2.27E-4	0.0	ENSG00000198799	ENST00000361127	T	0.63255	-0.03	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.79137	0.4395	M	0.80616	2.505	0.58432	D	0.999999	D	0.89917	1.0	D	0.78314	0.991	T	0.80261	-0.1456	10	0.87932	D	0	.	20.3207	0.98668	0.0:1.0:0.0:0.0	.	861	O94898	LRIG2_HUMAN	M	861	ENSP00000355396:T861M	ENSP00000355396:T861M	T	+	2	0	LRIG2	113460483	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	7.818000	0.86416	2.813000	0.96785	0.561000	0.74099	ACG		0.488	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		14	18	0	0	0	1	0	14	18				
KCNJ4	3761	broad.mit.edu	37	22	38823055	38823055	+	Silent	SNP	C	C	G			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr22:38823055C>G	ENST00000303592.3	-	2	1341	c.1083G>C	c.(1081-1083)ctG>ctC	p.L361L	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	361					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GTGGGGCGGGCAGCACGGTGA	0.642																																						ENST00000303592.3																			0				endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(1081-1083)ctG>ctC		potassium inwardly-rectifying channel, subfamily J, member 4							22.0	28.0	26.0					22																	38823055		2201	4297	6498	SO:0001819	synonymous_variant	3761				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding	g.chr22:38823055C>G	U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.1083G>C	22.37:g.38823055C>G						RP3-434P1.6_ENST00000433230.1_RNA	p.L361L	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN			2	1341	-	Melanoma(58;0.0286)		361					Q14D44	Silent	SNP	ENST00000303592.3	37	c.1083G>C	CCDS13971.1																																																																																				0.642	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321447.1	NM_004981		4	59	0	0	0	1	0	4	59				
SRSF4	6429	broad.mit.edu	37	1	29475219	29475221	+	In_Frame_Del	DEL	CTT	CTT	-	rs138237342		TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr1:29475219_29475221delCTT	ENST00000373795.4	-	6	1420_1422	c.1186_1188delAAG	c.(1186-1188)aagdel	p.K396del	SRSF4_ENST00000546138.1_3'UTR|RP11-242O24.3_ENST00000413004.1_lincRNA|SRSF4_ENST00000466448.1_5'UTR	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	396	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						CAGTGTCTTCCTTCTTCTTCTTC	0.601																																						ENST00000373795.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						c.(1186-1188)del		serine/arginine-rich splicing factor 4				32,4234		1,30,2102						4.8	1.0			113	49,8205		3,43,4081	no	coding	SRSF4	NM_005626.4		4,73,6183	A1A1,A1R,RR		0.5937,0.7501,0.647				81,12439				SO:0001651	inframe_deletion	6429				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding	g.chr1:29475219_29475221delCTT	BC002781	CCDS333.1	1p35.3	2013-02-12	2010-06-22	2010-06-22	ENSG00000116350	ENSG00000116350		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10786	protein-coding gene	gene with protein product	"""SR splicing factor 4"""	601940	"""splicing factor, arginine/serine-rich 4"""	SFRS4		8321209, 20516191	Standard	NM_005626		Approved	SRP75	uc001bro.3	Q08170	OTTHUMG00000003663	ENST00000373795.4:c.1186_1188delAAG	1.37:g.29475228_29475230delCTT	ENSP00000362900:p.Lys396del					SRSF4_ENST00000546138.1_3'UTR|SRSF4_ENST00000466448.1_5'UTR	p.K396del	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN			6	1420_1422	-			396			Arg/Ser-rich (RS domain).		Q5VXP1|Q9BUA4|Q9UEB5	In_Frame_Del	DEL	ENST00000373795.4	37	c.1186_1188delAAG	CCDS333.1																																																																																				0.601	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010392.1	NM_005626		7	151						7	151	---	---	---	---
KIAA0907	22889	broad.mit.edu	37	1	155886422	155886423	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr1:155886422_155886423delCT	ENST00000368321.3	-	12	1569_1570	c.1546_1547delAG	c.(1546-1548)aggfs	p.R516fs	KIAA0907_ENST00000368320.3_Frame_Shift_Del_p.R516fs	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	516							RNA binding (GO:0003723)	p.R516fs*21(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TTACCTGTCCCTCTCTCTCTCT	0.396																																						ENST00000368320.3																			1	Deletion - Frameshift(1)	p.R516fs*21(1)	large_intestine(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(1546-1548)gfs		KIAA0907																																				SO:0001589	frameshift_variant	22889							g.chr1:155886422_155886423delCT	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1546_1547delAG	1.37:g.155886432_155886433delCT	ENSP00000357304:p.Arg516fs					KIAA0907_ENST00000368321.3_Frame_Shift_Del_p.R516fs	p.R516fs			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		12	1571_1572	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		516					O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Frame_Shift_Del	DEL	ENST00000368321.3	37	c.1546_1547delAG	CCDS30885.1																																																																																				0.396	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		7	151						7	151	---	---	---	---
GRB14	2888	broad.mit.edu	37	2	165365287	165365288	+	Frame_Shift_Ins	INS	-	-	T			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr2:165365287_165365288insT	ENST00000263915.3	-	7	1429_1430	c.891_892insA	c.(889-894)aaacatfs	p.H298fs	GRB14_ENST00000543549.1_Frame_Shift_Ins_p.H211fs	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	298	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.K297fs*23(2)		breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						GGTGCTCCATGTTTTTTTTTGC	0.371																																						ENST00000263915.3																			2	Deletion - Frameshift(2)	p.K297fs*23(2)	ovary(1)|breast(1)	breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(889-894)aaatggfs		growth factor receptor-bound protein 14																																				SO:0001589	frameshift_variant	2888				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	g.chr2:165365287_165365288insT		CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.892dupA	2.37:g.165365296_165365296dupT	ENSP00000263915:p.His298fs					GRB14_ENST00000543549.1_Frame_Shift_Ins_p.W211fs	p.W298fs	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN			7	1429_1430	-			298			PH.		B7Z7F9|Q7Z6I1	Frame_Shift_Ins	INS	ENST00000263915.3	37	c.891_892insA	CCDS2222.1																																																																																				0.371	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2			7	126						7	126	---	---	---	---
OR52D1	390066	broad.mit.edu	37	11	5510687	5510688	+	Frame_Shift_Ins	INS	-	-	C	rs7101919	byFrequency	TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr11:5510687_5510688insC	ENST00000322641.5	+	1	773_774	c.751_752insC	c.(751-753)atcfs	p.I251fs	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	251			I -> T (in dbSNP:rs7101919).		detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATTGGCATCATCCTGGTTTTC	0.495																																						ENST00000322641.5																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(751-753)cctfs		olfactory receptor, family 52, subfamily D, member 1																																				SO:0001589	frameshift_variant	390066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5510687_5510688insC	BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"""GPCR / Class A : Olfactory receptors"""	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	Exception_encountered	11.37:g.5510687_5510688insC	ENSP00000326232:p.Ile251fs					AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	p.P251fs	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	773_774	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	251		I -> T (in dbSNP:rs7101919).			B9EGY9|Q6IFI6	Frame_Shift_Ins	INS	ENST00000322641.5	37	c.751_752insC	CCDS31384.1																																																																																				0.495	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143372.1	NM_001005163		13	111						13	111	---	---	---	---
CD3EAP	10849	broad.mit.edu	37	19	45911859	45911861	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr19:45911859_45911861delGAA	ENST00000309424.3	+	3	1121_1123	c.633_635delGAA	c.(631-636)cggaag>cgg	p.K217del	PPP1R13L_ENST00000418234.2_5'Flank|CD3EAP_ENST00000589804.1_In_Frame_Del_p.K219del|ERCC1_ENST00000423698.2_3'UTR|ERCC1_ENST00000588738.1_5'Flank|ERCC1_ENST00000300853.3_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	217	Poly-Lys.				rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TGGATGTGCGGAAGAAGAAGAAG	0.581																																						ENST00000309424.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						c.(631-636)cgg>cg		CD3e molecule, epsilon associated protein			,,	0,144,4118		0,0,0,13,118,2000					,,	-5.6	0.0			66	5,183,8058		0,0,5,3,177,3938	no	codingComplex,utr-3,utr-3	ERCC1,CD3EAP	NM_012099.1,NM_001983.3,NM_001166049.1	,,	0,0,5,16,295,5938	A1A1,A1A2,A1R,A2A2,A2R,RR		2.2799,3.3787,2.6543	,,	,,		5,327,12176				SO:0001651	inframe_deletion	10849				rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity	g.chr19:45911859_45911861delGAA	U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"""CD3 epsilon associated protein"", ""antisense to ERCC 1"""	107325	"""CD3e antigen, epsilon polypeptide associated protein"""			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.633_635delGAA	19.37:g.45911868_45911870delGAA	ENSP00000310966:p.Lys217del					ERCC1_ENST00000300853.3_3'UTR|CD3EAP_ENST00000589804.1_In_Frame_Del_p.RK213del|ERCC1_ENST00000423698.2_3'UTR	p.RK211del	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0251)	3	1121_1123	+		all_neural(266;0.224)|Ovarian(192;0.231)	211					Q32N11|Q7Z5U2|Q9UPF6	In_Frame_Del	DEL	ENST00000309424.3	37	c.633_635delGAA	CCDS12661.1																																																																																				0.581	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459538.1	NM_012099		7	151						7	151	---	---	---	---
AC008132.13	0	broad.mit.edu	37	22	18842473	18842473	+	Intron	DEL	G	G	-	rs66480106	byFrequency	TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr22:18842473delG	ENST00000412938.1	+	4	2208																											AGCTGCTGGTGGGGAGGTCTT	0.647													?|GGGG|GGG|unsure	2225	0.444289	0.2716	0.4467	5008	,	,		25744	0.5079		0.5099	False		,,,				2504	0.5429					ENST00000412938.1																			0																																																	SO:0001627	intron_variant	0							g.chr22:18842473delG																												ENST00000412938.1:c.2209-830G>-	22.37:g.18842473delG														0	2208	+									RNA	DEL	ENST00000412938.1	37																																																																																						0.647	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			3	3						3	3	---	---	---	---
