#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
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			5	54	0	0	0	1	0	5	54				
HBP1	26959	broad.mit.edu	37	7	106836571	106836571	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr7:106836571C>G	ENST00000222574.4	+	9	1546	c.1360C>G	c.(1360-1362)Cag>Gag	p.Q454E	HBP1_ENST00000461963.1_3'UTR|HBP1_ENST00000468410.1_Missense_Mutation_p.Q454E|HBP1_ENST00000485846.1_Missense_Mutation_p.Q454E|CTA-363E19.2_ENST00000607036.1_RNA	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	454					cell cycle arrest (GO:0007050)|positive regulation of potassium ion transport (GO:0043268)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						TGAATATACTCAGATGTATCC	0.363																																						ENST00000222574.4																			0				large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						c.(1360-1362)Cag>Gag		HMG-box transcription factor 1							47.0	48.0	48.0					7																	106836571		2203	4300	6503	SO:0001583	missense	26959				cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding	g.chr7:106836571C>G	BC017069	CCDS5741.1	7q22-q31	2003-10-08			ENSG00000105856	ENSG00000105856			23200	protein-coding gene	gene with protein product						9030690, 11500377	Standard	NM_001244262		Approved		uc011klv.2	O60381	OTTHUMG00000157642	ENST00000222574.4:c.1360C>G	7.37:g.106836571C>G	ENSP00000222574:p.Gln454Glu					HBP1_ENST00000468410.1_Missense_Mutation_p.Q454E|HBP1_ENST00000485846.1_Missense_Mutation_p.Q454E|HBP1_ENST00000461963.1_3'UTR	p.Q454E	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN			9	1546	+			454					B3KVB7|Q8TBM1|Q8TE93|Q96AJ2	Missense_Mutation	SNP	ENST00000222574.4	37	c.1360C>G	CCDS5741.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327419	0.81690	.	.	ENSG00000105856	ENST00000468410;ENST00000222574;ENST00000485846;ENST00000498408	D;D;D;D	0.97752	-4.52;-4.52;-4.52;-3.17	5.85	5.85	0.93711	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.97448	0.9165	N	0.19112	0.55	0.80722	D	1	D;P;D	0.67145	0.996;0.889;0.992	D;P;P	0.71414	0.973;0.534;0.846	D	0.98715	1.0706	10	0.66056	D	0.02	-12.7426	20.1576	0.98120	0.0:1.0:0.0:0.0	.	464;454;454	B4DJ36;O60381-3;O60381	.;.;HBP1_HUMAN	E	454;454;454;446	ENSP00000420500:Q454E;ENSP00000222574:Q454E;ENSP00000418738:Q454E;ENSP00000418017:Q446E	ENSP00000222574:Q454E	Q	+	1	0	HBP1	106623807	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.875000	0.69660	2.773000	0.95371	0.650000	0.86243	CAG		0.363	HBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349297.1	NM_012257		20	31	0	0	0	1	0	20	31				
TUBBP5	643224	broad.mit.edu	37	9	141070116	141070116	+	RNA	SNP	G	G	A	rs376870088		TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr9:141070116G>A	ENST00000503395.1	+	0	1196									tubulin, beta pseudogene 5									p.R77H(1)									GACTCTGTGCGCTCGGGGCCC	0.687																																						ENST00000503395.1																			1	Substitution - Missense(1)	p.R77H(1)	urinary_tract(1)																																																0							g.chr9:141070116G>A	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070116G>A														0	1196	+									RNA	SNP	ENST00000503395.1	37																																																																																						0.687	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		4	121	0	0	0	1	0	4	121				
MLLT6	4302	broad.mit.edu	37	17	36872811	36872811	+	Missense_Mutation	SNP	T	T	A			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr17:36872811T>A	ENST00000325718.7	+	10	1319	c.1228T>A	c.(1228-1230)Tcc>Acc	p.S410T	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	410					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					CATGCGCTTCTCCACCACCAC	0.662			T	MLL	AL																																	ENST00000325718.7				Dom	yes		17	17q21	4302	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"""			L	MLL		AL		0				breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(1228-1230)Tcc>Acc		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6							33.0	39.0	37.0					17																	36872811		2203	4300	6503	SO:0001583	missense	4302				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding	g.chr17:36872811T>A		CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"""Zinc fingers, PHD-type"""	7138	protein-coding gene	gene with protein product	"""Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6"", ""trithorax homolog"""	600328	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"""			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.1228T>A	17.37:g.36872811T>A	ENSP00000316426:p.Ser410Thr					CTB-58E17.9_ENST00000579499.1_RNA	p.S410T	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN			10	1319	+	Breast(7;4.43e-21)		410					Q59F28|Q96IU3|Q9H5F6|Q9UF49	Missense_Mutation	SNP	ENST00000325718.7	37	c.1228T>A	CCDS11327.1	.	.	.	.	.	.	.	.	.	.	T	15.85	2.956019	0.53293	.	.	ENSG00000108292	ENST00000325718	T	0.13420	2.59	5.33	4.23	0.50019	.	0.650666	0.15366	N	0.266127	T	0.08582	0.0213	N	0.25647	0.755	0.35471	D	0.797321	B	0.02656	0.0	B	0.04013	0.001	T	0.15206	-1.0445	10	0.07030	T	0.85	.	9.4751	0.38867	0.164:0.0:0.0:0.836	.	410	P55198	AF17_HUMAN	T	410	ENSP00000316426:S410T	ENSP00000316426:S410T	S	+	1	0	MLLT6	34126337	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.310000	0.43708	0.829000	0.34733	0.459000	0.35465	TCC		0.662	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937		38	78	0	0	0	1	0	38	78				
DLL1	28514	broad.mit.edu	37	6	170594119	170594119	+	Silent	SNP	A	A	C			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr6:170594119A>C	ENST00000366756.3	-	8	1470	c.1137T>G	c.(1135-1137)ggT>ggG	p.G379G		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	379	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		CTGAGCACCGACCCCCGTTAA	0.577																																						ENST00000366756.3																			0				NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33						c.(1135-1137)ggT>ggG		delta-like 1 (Drosophila)							70.0	68.0	69.0					6																	170594119		2203	4300	6503	SO:0001819	synonymous_variant	28514				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding	g.chr6:170594119A>C	AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"""delta (Drosophila)-like 1"""				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.1137T>G	6.37:g.170594119A>C							p.G379G	NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)	8	1470	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	379			EGF-like 5.		B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Silent	SNP	ENST00000366756.3	37	c.1137T>G	CCDS5313.1																																																																																				0.577	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1			6	89	0	0	0	1	0	6	89				
DOT1L	84444	broad.mit.edu	37	19	2226268	2226268	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr19:2226268G>A	ENST00000398665.3	+	27	3784	c.3748G>A	c.(3748-3750)Gac>Aac	p.D1250N		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1250					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCATCTCCGACATCGGCCT	0.677																																						ENST00000398665.3																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42						c.(3748-3750)Gac>Aac		DOT1-like histone H3K79 methyltransferase							18.0	23.0	22.0					19																	2226268		2025	4178	6203	SO:0001583	missense	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2226268G>A	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.3748G>A	19.37:g.2226268G>A	ENSP00000381657:p.Asp1250Asn						p.D1250N	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	27	3784	+		Hepatocellular(1079;0.137)	1250					O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	c.3748G>A	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	G	34	5.338884	0.95783	.	.	ENSG00000104885	ENST00000398665;ENST00000221482;ENST00000457590	T;T	0.54675	0.84;0.56	4.41	4.41	0.53225	.	0.000000	0.64402	D	0.000001	T	0.70771	0.3262	M	0.66939	2.045	0.47994	D	0.999568	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	T	0.75399	-0.3331	10	0.87932	D	0	-35.9826	16.359	0.83246	0.0:0.0:1.0:0.0	.	1250;1250	Q8TEK3;Q8TEK3-2	DOT1L_HUMAN;.	N	1250;1250;130	ENSP00000381657:D1250N;ENSP00000407411:D130N	ENSP00000221482:D1250N	D	+	1	0	DOT1L	2177268	1.000000	0.71417	0.985000	0.45067	0.930000	0.56654	8.513000	0.90542	2.180000	0.69256	0.561000	0.74099	GAC		0.677	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		3	31	0	0	0	1	0	3	31				
ZBED1	9189	broad.mit.edu	37	X	2406764	2406764	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chrX:2406764T>C	ENST00000381223.4	-	2	2200	c.1997A>G	c.(1996-1998)gAg>gGg	p.E666G	ZBED1_ENST00000515319.1_Intron|ZBED1_ENST00000381218.3_Missense_Mutation_p.E666G|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.E666G	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	666					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAGGCCCCACTCCCCCTCGTC	0.647																																						ENST00000381223.4																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(1996-1998)gAg>gGg		zinc finger, BED-type containing 1							123.0	117.0	119.0					X																	2406764		2203	4296	6499	SO:0001583	missense	9189					nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	g.chrX:2406764T>C	AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"""Pseudoautosomal regions / PAR1"", ""Zinc fingers, BED-type"""	447	protein-coding gene	gene with protein product		300178	"""Ac-like transposable element"""	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.1997A>G	X.37:g.2406764T>C	ENSP00000370621:p.Glu666Gly					ZBED1_ENST00000381218.3_Missense_Mutation_p.E666G|RP11-325D5.3_ENST00000515319.1_RNA|ZBED1_ENST00000381222.2_Missense_Mutation_p.E666G|DHRSX_ENST00000334651.5_Intron	p.E666G	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN			2	2200	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	666					Q96BY4	Missense_Mutation	SNP	ENST00000381223.4	37	c.1997A>G	CCDS14118.1	.	.	.	.	.	.	.	.	.	.	T	10.23	1.293964	0.23564	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218	.	.	.	2.93	2.93	0.34026	.	0.000000	0.41396	U	0.000900	T	0.63260	0.2496	.	.	.	0.09310	N	1	D	0.71674	0.998	D	0.70227	0.968	T	0.54695	-0.8255	8	0.62326	D	0.03	.	10.5576	0.45127	0.0:0.0:0.0:1.0	.	666	O96006	ZBED1_HUMAN	G	666	.	ENSP00000370616:E666G	E	-	2	0	ZBED1	2416764	0.998000	0.40836	0.762000	0.31397	0.518000	0.34316	2.741000	0.47426	0.886000	0.36113	0.347000	0.21830	GAG		0.647	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	NM_004729		4	144	0	0	0	1	0	4	144				
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A	rs200209148	byFrequency	TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										TGAGGCTGCCGTTGTAGAAGG	0.612																																						ENST00000412448.1																			0																																																			0							g.chr22:18769145G>A			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18769145G>A														0	1141	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.612	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		3	22	0	0	0	1	0	3	22				
JMJD1C	221037	broad.mit.edu	37	10	64968101	64968101	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr10:64968101G>T	ENST00000399262.2	-	10	3546	c.3328C>A	c.(3328-3330)Cca>Aca	p.P1110T	JMJD1C_ENST00000402544.1_Missense_Mutation_p.P891T|JMJD1C_ENST00000399251.1_Missense_Mutation_p.P891T|JMJD1C_ENST00000542921.1_Missense_Mutation_p.P928T	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1110					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TCTTTGGATGGGTATGATCTT	0.383																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(3328-3330)Cca>Aca		jumonji domain containing 1C							176.0	167.0	170.0					10																	64968101		1887	4108	5995	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64968101G>T	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.3328C>A	10.37:g.64968101G>T	ENSP00000382204:p.Pro1110Thr					JMJD1C_ENST00000402544.1_Missense_Mutation_p.P891T|JMJD1C_ENST00000399251.1_Missense_Mutation_p.P891T|JMJD1C_ENST00000542921.1_Missense_Mutation_p.P928T	p.P1110T	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			10	3546	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1110					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.3328C>A	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.552758	0.45487	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.60040	0.56;0.22;2.09;0.56	5.59	5.59	0.84812	.	0.055816	0.64402	D	0.000001	T	0.53753	0.1816	L	0.56769	1.78	0.38780	D	0.954745	P;P;P	0.51057	0.941;0.941;0.879	B;B;B	0.43478	0.421;0.421;0.34	T	0.60969	-0.7157	10	0.49607	T	0.09	-12.4528	9.5203	0.39131	0.0747:0.1439:0.7814:0.0	.	651;1110;928	A6PW35;Q15652;A0T124	.;JHD2C_HUMAN;.	T	1110;891;891;928	ENSP00000382204:P1110T;ENSP00000384990:P891T;ENSP00000382195:P891T;ENSP00000444682:P928T	ENSP00000382195:P891T	P	-	1	0	JMJD1C	64638107	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.538000	0.67193	2.621000	0.88768	0.563000	0.77884	CCA		0.383	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		4	185	1	0	0.150653	1	0.150653	4	185				
JPH3	57338	broad.mit.edu	37	16	87678405	87678405	+	Silent	SNP	G	G	A			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr16:87678405G>A	ENST00000284262.2	+	2	1166	c.924G>A	c.(922-924)ggG>ggA	p.G308G		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	308					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		GCTCGGACGGGCTCAAGTACG	0.642																																						ENST00000284262.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(922-924)ggG>ggA		junctophilin 3							67.0	72.0	70.0					16																	87678405		2198	4300	6498	SO:0001819	synonymous_variant	57338				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding	g.chr16:87678405G>A	AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.924G>A	16.37:g.87678405G>A							p.G308G	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0287)	2	1166	+			308					D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Silent	SNP	ENST00000284262.2	37	c.924G>A	CCDS10962.1																																																																																				0.642	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2			4	101	0	0	0	1	0	4	101				
ATG2A	23130	broad.mit.edu	37	11	64665787	64665787	+	Silent	SNP	C	C	T			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr11:64665787C>T	ENST00000377264.3	-	33	4831	c.4719G>A	c.(4717-4719)ggG>ggA	p.G1573G	ATG2A_ENST00000421419.2_Silent_p.G1575G	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1573					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						AGCACTCAGGCCCACCCAGGT	0.637											OREG0004029	type=REGULATORY REGION|Gene=BC033850|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000421419.2																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(4723-4725)ggG>ggA		autophagy related 2A							54.0	55.0	55.0					11																	64665787		2201	4297	6498	SO:0001819	synonymous_variant	23130						protein binding	g.chr11:64665787C>T		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.4719G>A	11.37:g.64665787C>T			OREG0004029	type=REGULATORY REGION|Gene=BC033850|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1078	ATG2A_ENST00000377264.3_Silent_p.G1573G	p.G1575G			Q2TAZ0	ATG2A_HUMAN			33	4839	-			1573					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Silent	SNP	ENST00000377264.3	37	c.4725G>A	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	C	2.958	-0.215266	0.06101	.	.	ENSG00000110046	ENST00000418259	.	.	.	4.37	-4.5	0.03493	.	.	.	.	.	T	0.50360	0.1611	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50524	-0.8818	4	.	.	.	.	7.8227	0.29296	0.0:0.169:0.4953:0.3357	.	.	.	.	T	1377	.	.	A	-	1	0	ATG2A	64422363	0.000000	0.05858	0.010000	0.14722	0.444000	0.32077	-3.183000	0.00568	-0.626000	0.05596	-0.265000	0.10407	GCC		0.637	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		15	16	0	0	0	1	0	15	16				
MAP3K4	4216	broad.mit.edu	37	6	161528964	161528964	+	Missense_Mutation	SNP	T	T	G			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr6:161528964T>G	ENST00000392142.4	+	21	4230	c.4082T>G	c.(4081-4083)aTc>aGc	p.I1361S	MAP3K4_ENST00000366920.2_Missense_Mutation_p.I1357S|MAP3K4_ENST00000366919.2_Missense_Mutation_p.I1311S|MAP3K4_ENST00000348824.7_Missense_Mutation_p.I1307S	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1361	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TACACCTGCATCAGCGTCGAC	0.552																																						ENST00000392142.4																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(4081-4083)aTc>aGc		mitogen-activated protein kinase kinase kinase 4							102.0	87.0	93.0					6																	161528964		2203	4300	6503	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161528964T>G	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.4082T>G	6.37:g.161528964T>G	ENSP00000375986:p.Ile1361Ser					MAP3K4_ENST00000366919.2_Missense_Mutation_p.I1311S|MAP3K4_ENST00000366920.2_Missense_Mutation_p.I1357S|MAP3K4_ENST00000348824.7_Missense_Mutation_p.I1307S	p.I1361S	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	21	4230	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	1361			Protein kinase.		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.4082T>G	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.617938	0.87359	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.25414	1.8;1.8;1.8;1.8	4.8	4.8	0.61643	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.29223	0.0727	L	0.31207	0.915	0.80722	D	1	D;D;D;D	0.89917	0.995;0.996;0.999;1.0	D;P;D;D	0.87578	0.98;0.872;0.996;0.998	T	0.15263	-1.0443	10	0.87932	D	0	-24.8559	14.664	0.68893	0.0:0.0:0.0:1.0	.	1357;297;1311;1361	F5H538;Q9P1M2;Q9Y6R4-2;Q9Y6R4	.;.;.;M3K4_HUMAN	S	1311;1361;1311;1357;1307	ENSP00000355886:I1311S;ENSP00000375986:I1361S;ENSP00000355887:I1357S;ENSP00000297332:I1307S	ENSP00000297332:I1307S	I	+	2	0	MAP3K4	161448954	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.655000	0.83696	1.911000	0.55334	0.459000	0.35465	ATC		0.552	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			6	71	0	0	0	1	0	6	71				
EP400	57634	broad.mit.edu	37	12	132547108	132547108	+	Silent	SNP	G	G	A			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr12:132547108G>A	ENST00000333577.4	+	48	8413	c.8304G>A	c.(8302-8304)caG>caA	p.Q2768Q	EP400_ENST00000332482.4_Silent_p.Q2695Q|EP400_ENST00000389562.2_Silent_p.Q2731Q|EP400_ENST00000330386.6_Silent_p.Q2651Q|EP400_ENST00000389561.2_Silent_p.Q2732Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2768	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcagcagcagc	0.587																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8302-8304)caG>caA		E1A binding protein p400							22.0	26.0	25.0					12																	132547108		2047	3981	6028	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547108G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8304G>A	12.37:g.132547108G>A						EP400_ENST00000330386.6_Silent_p.Q2651Q|EP400_ENST00000389562.2_Silent_p.Q2731Q|EP400_ENST00000389561.2_Silent_p.Q2732Q|EP400_ENST00000332482.4_Silent_p.Q2695Q	p.Q2768Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8413	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2768			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8304G>A																																																																																					0.587	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		4	67	0	0	0	1	0	4	67				
TCIRG1	10312	broad.mit.edu	37	11	67816587	67816587	+	Silent	SNP	G	G	T			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr11:67816587G>T	ENST00000265686.3	+	15	1821	c.1713G>T	c.(1711-1713)ctG>ctT	p.L571L	RP11-802E16.3_ENST00000526897.1_RNA|TCIRG1_ENST00000532635.1_Silent_p.L355L|RP11-802E16.3_ENST00000529934.1_RNA	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	571					ATP hydrolysis coupled proton transport (GO:0015991)|cellular defense response (GO:0006968)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of cell proliferation (GO:0008284)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						TGGAGACGCTGCCGGAGCTCA	0.667																																						ENST00000265686.3																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						c.(1711-1713)ctG>ctT		T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3							95.0	88.0	91.0					11																	67816587		2200	4294	6494	SO:0001819	synonymous_variant	10312				ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity	g.chr11:67816587G>T	AF025374	CCDS8177.1, CCDS53670.1	11q13.2	2014-09-17	2006-01-20		ENSG00000110719	ENSG00000110719		"""ATPases / V-type"""	11647	protein-coding gene	gene with protein product	"""T-cell immune response cDNA 7"""	604592	"""T-cell, immune regulator 1"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3"""			8579597, 9806637	Standard	NM_006019		Approved	TIRC7, OC-116, OC116, ATP6N1C, Atp6i, a3, ATP6V0A3	uc001one.3	Q13488	OTTHUMG00000167358	ENST00000265686.3:c.1713G>T	11.37:g.67816587G>T						TCIRG1_ENST00000532635.1_Silent_p.L355L	p.L571L	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN			15	1821	+			571					O75877|Q8WVC5	Silent	SNP	ENST00000265686.3	37	c.1713G>T	CCDS8177.1																																																																																				0.667	TCIRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394305.1	NM_006019		5	185	1	0	0.00116845	1	0.00119766	5	185				
COIL	8161	broad.mit.edu	37	17	55038183	55038183	+	Missense_Mutation	SNP	C	C	G	rs201582973		TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr17:55038183C>G	ENST00000240316.4	-	1	232	c.198G>C	c.(196-198)ttG>ttC	p.L66F		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	66						Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					CGGCGGGGGGCAAGAGCCCCC	0.697																																						ENST00000240316.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15						c.(196-198)ttG>ttC		coilin																																				SO:0001583	missense	8161					Cajal body|nucleolus	protein C-terminus binding	g.chr17:55038183C>G	U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.198G>C	17.37:g.55038183C>G	ENSP00000240316:p.Leu66Phe						p.L66F	NM_004645.2	NP_004636.1	P38432	COIL_HUMAN			1	232	-	Breast(9;6.15e-08)		66					B2R931	Missense_Mutation	SNP	ENST00000240316.4	37	c.198G>C	CCDS11592.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280674	0.80692	.	.	ENSG00000121058	ENST00000240316	T	0.53640	0.61	4.32	2.16	0.27623	.	0.000000	0.64402	D	0.000001	T	0.63367	0.2505	M	0.74647	2.275	0.53688	D	0.999979	D	0.89917	1.0	D	0.87578	0.998	T	0.65434	-0.6169	10	0.87932	D	0	-7.22	8.381	0.32472	0.0:0.7562:0.1558:0.088	.	66	P38432	COIL_HUMAN	F	66	ENSP00000240316:L66F	ENSP00000240316:L66F	L	-	3	2	COIL	52393182	1.000000	0.71417	0.994000	0.49952	0.960000	0.62799	1.914000	0.39966	1.178000	0.42870	0.455000	0.32223	TTG		0.697	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440618.1			7	10	0	0	0	1	0	7	10				
EIF4G1	1981	broad.mit.edu	37	3	184042726	184042726	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr3:184042726C>T	ENST00000346169.2	+	18	2951	c.2680C>T	c.(2680-2682)Cgc>Tgc	p.R894C	EIF4G1_ENST00000424196.1_Missense_Mutation_p.R901C|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R730C|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R894C|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R901C|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R731C|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R808C|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R807C|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R855C|EIF4G1_ENST00000342981.4_Missense_Mutation_p.R895C|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R698C|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R901C|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R854C|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R699C	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	894	eIF3/EIF4A-binding.			R -> C (in Ref. 1; BAA02185). {ECO:0000305}.	cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGCCCGGCGGCGCTCTTTAGG	0.478																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(2683-2685)Cgc>Tgc		eukaryotic translation initiation factor 4 gamma, 1							67.0	77.0	74.0					3																	184042726		2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184042726C>T	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.2680C>T	3.37:g.184042726C>T	ENSP00000316879:p.Arg894Cys					EIF4G1_ENST00000392537.2_Missense_Mutation_p.R807C|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R901C|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R808C|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R730C|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R698C|EIF4G1_ENST00000346169.2_Missense_Mutation_p.R894C|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R901C|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R731C|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R854C|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R894C|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R699C|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R901C|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R855C|EIF2B5_ENST00000444495.1_Intron	p.R895C	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		17	3097	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		894			eIF3/EIF4A-binding.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.2683C>T	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.121871	0.77436	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63	5.65	5.65	0.86999	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.49712	0.1573	M	0.89904	3.07	0.80722	D	1	P;P;P;P	0.39940	0.696;0.696;0.696;0.696	B;B;B;B	0.40940	0.344;0.344;0.344;0.344	T	0.61178	-0.7115	10	0.72032	D	0.01	-8.9972	19.7312	0.96182	0.0:1.0:0.0:0.0	.	901;895;894;901	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	C	894;854;807;901;835;730;901;808;895;894;901;855;730;731;699;698	ENSP00000316879:R894C;ENSP00000391935:R854C;ENSP00000376320:R807C;ENSP00000371767:R901C;ENSP00000403269:R835C;ENSP00000317600:R730C;ENSP00000338020:R901C;ENSP00000407682:R808C;ENSP00000343450:R895C;ENSP00000323737:R894C;ENSP00000416255:R901C;ENSP00000395974:R855C;ENSP00000398145:R730C;ENSP00000399858:R731C;ENSP00000411826:R699C;ENSP00000404754:R698C	ENSP00000323737:R894C	R	+	1	0	EIF4G1	185525420	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.686000	0.61700	2.677000	0.91161	0.561000	0.74099	CGC		0.478	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		4	140	0	0	0	1	0	4	140				
PRKCQ	5588	broad.mit.edu	37	10	6472890	6472890	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr10:6472890C>T	ENST00000263125.5	-	17	1946	c.1847G>A	c.(1846-1848)cGa>cAa	p.R616Q	PRKCQ_ENST00000539722.1_Missense_Mutation_p.R491Q|PRKCQ_ENST00000397176.2_Missense_Mutation_p.R553Q	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	616	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	CTCAGGTTCTCGCACGAAGAG	0.587																																					Ovarian(50;572 1126 10530 25349 30594)	ENST00000263125.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						c.(1846-1848)cGa>cAa		protein kinase C, theta							63.0	56.0	58.0					10																	6472890		2203	4300	6503	SO:0001583	missense	5588				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr10:6472890C>T	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.1847G>A	10.37:g.6472890C>T	ENSP00000263125:p.Arg616Gln					PRKCQ_ENST00000397176.2_Missense_Mutation_p.R553Q|PRKCQ_ENST00000539722.1_Missense_Mutation_p.R491Q	p.R616Q	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN			17	1946	-			616			Protein kinase.		B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP	ENST00000263125.5	37	c.1847G>A	CCDS7079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.9|25.9	4.687945|4.687945	0.88639|0.88639	.|.	.|.	ENSG00000065675|ENSG00000065675	ENST00000397178|ENST00000263125;ENST00000397176;ENST00000539722	.|T;T;T	.|0.58797	.|0.31;0.31;0.31	5.23|5.23	4.32|4.32	0.51571|0.51571	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.046988	.|0.85682	.|D	.|0.000000	T|T	0.67692|0.67692	0.2920|0.2920	L|L	0.45137|0.45137	1.4|1.4	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D;D	.|0.89917	.|0.999;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|0.957;0.991;1.0;0.968	T|T	0.70421|0.70421	-0.4876|-0.4876	5|10	.|0.87932	.|D	.|0	.|.	12.9862|12.9862	0.58594|0.58594	0.0:0.9193:0.0:0.0807|0.0:0.9193:0.0:0.0807	.|.	.|491;388;553;616	.|B4DF52;Q5JUN8;Q04759-2;Q04759	.|.;.;.;KPCT_HUMAN	K|Q	389|616;553;491	.|ENSP00000263125:R616Q;ENSP00000380361:R553Q;ENSP00000441752:R491Q	.|ENSP00000263125:R616Q	E|R	-|-	1|2	0|0	PRKCQ|PRKCQ	6512896|6512896	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.848000|0.848000	0.48234|0.48234	7.275000|7.275000	0.78548|0.78548	2.434000|2.434000	0.82447|0.82447	0.650000|0.650000	0.86243|0.86243	GAG|CGA		0.587	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257		20	36	0	0	0	1	0	20	36				
AMZ2	51321	broad.mit.edu	37	17	66246612	66246612	+	Splice_Site	SNP	G	G	A			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr17:66246612G>A	ENST00000359904.3	+	2	1415		c.e2+1		AMZ2_ENST00000580753.1_Splice_Site|AMZ2_ENST00000577273.1_Splice_Site|AMZ2_ENST00000392720.2_Splice_Site|RP11-147L13.2_ENST00000577698.1_RNA|AMZ2_ENST00000359783.4_Splice_Site|AMZ2_ENST00000577866.1_Splice_Site|AMZ2_ENST00000577985.1_Splice_Site|AMZ2_ENST00000585050.1_Splice_Site	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2								metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAGTCCATTGGTAAATACTGG	0.463																																						ENST00000359904.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9						c.e2+1		archaelysin family metallopeptidase 2							93.0	94.0	94.0					17																	66246612		2203	4299	6502	SO:0001630	splice_region_variant	51321						metallopeptidase activity|zinc ion binding	g.chr17:66246612G>A	CR609550	CCDS11674.1, CCDS32714.1	17q24.2	2010-04-08			ENSG00000196704	ENSG00000196704			28041	protein-coding gene	gene with protein product	"""archaemetzincin-2"""	615169				15972818	Standard	XM_005257436		Approved		uc002jgr.1	Q86W34		ENST00000359904.3:c.283+1G>A	17.37:g.66246612G>A						AMZ2_ENST00000585050.1_Splice_Site|AMZ2_ENST00000392720.2_Splice_Site|AMZ2_ENST00000359783.4_Splice_Site|AMZ2_ENST00000577273.1_Splice_Site|AMZ2_ENST00000577985.1_Splice_Site|AMZ2_ENST00000580753.1_Splice_Site|AMZ2_ENST00000577866.1_Splice_Site		NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		2	1415	+	all_cancers(12;1.12e-09)							A6NLD9|B3KR44|Q5XKF1|Q9NZE2	Splice_Site	SNP	ENST00000359904.3	37		CCDS11674.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.405193	0.25378	.	.	ENSG00000196704	ENST00000359904;ENST00000359783;ENST00000392720	.	.	.	3.15	3.15	0.36227	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4601	0.32923	0.0:0.2415:0.7585:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AMZ2	63758207	1.000000	0.71417	0.913000	0.36048	0.560000	0.35617	7.788000	0.85771	1.761000	0.52028	0.306000	0.20318	.		0.463	AMZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448261.1	NM_016627	Intron	13	145	0	0	0	1	0	13	145				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			20	35	0	0	0	1	0	20	35				
SPTBN2	6712	broad.mit.edu	37	11	66454995	66454995	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr11:66454995G>A	ENST00000533211.1	-	35	6956	c.6625C>T	c.(6625-6627)Ccg>Tcg	p.P2209S	SPTBN2_ENST00000529997.1_Missense_Mutation_p.P2209S|SPTBN2_ENST00000309996.2_Missense_Mutation_p.P2209S			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2209					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCTCGAGGCGGCAGGGTGGCA	0.672																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(6625-6627)Ccg>Tcg		spectrin, beta, non-erythrocytic 2							50.0	56.0	54.0					11																	66454995		2200	4294	6494	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66454995G>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.6625C>T	11.37:g.66454995G>A	ENSP00000432568:p.Pro2209Ser					SPTBN2_ENST00000529997.1_Missense_Mutation_p.P2209S|SPTBN2_ENST00000309996.2_Missense_Mutation_p.P2209S	p.P2209S			O15020	SPTN2_HUMAN			35	6956	-			2209					O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.6625C>T	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.196807	0.38806	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262	T;T;T	0.72394	-0.65;-0.65;-0.58	4.92	4.01	0.46588	.	0.154096	0.42964	N	0.000633	T	0.68348	0.2991	N	0.19112	0.55	0.58432	D	0.999999	D	0.60160	0.987	P	0.61722	0.893	T	0.65269	-0.6209	10	0.26408	T	0.33	.	12.0771	0.53649	0.0843:0.0:0.9157:0.0	.	2209	O15020	SPTN2_HUMAN	S	2209;2209;2209;753	ENSP00000432568:P2209S;ENSP00000311489:P2209S;ENSP00000433593:P2209S	ENSP00000311489:P2209S	P	-	1	0	SPTBN2	66211571	1.000000	0.71417	0.984000	0.44739	0.204000	0.24138	7.473000	0.81007	1.313000	0.45069	0.655000	0.94253	CCG		0.672	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		5	120	0	0	0	1	0	5	120				
ZNF493	284443	broad.mit.edu	37	19	21606712	21606712	+	Silent	SNP	T	T	C			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr19:21606712T>C	ENST00000355504.4	+	2	1133	c.867T>C	c.(865-867)tcT>tcC	p.S289S	ZNF493_ENST00000392288.2_Silent_p.S417S|CTD-2561J22.3_ENST00000600810.1_Intron	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	289					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						ATAAGGAGTCTTCACACCTTA	0.348																																						ENST00000392288.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(1249-1251)tcT>tcC		zinc finger protein 493							34.0	37.0	36.0					19																	21606712		2198	4293	6491	SO:0001819	synonymous_variant	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606712T>C	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.867T>C	19.37:g.21606712T>C						ZNF493_ENST00000355504.4_Silent_p.S289S|CTD-2561J22.3_ENST00000600810.1_Intron	p.S417S	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN			4	1360	+			289					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Silent	SNP	ENST00000355504.4	37	c.1251T>C	CCDS12412.1																																																																																				0.348	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		3	46	0	0	0	1	0	3	46				
NEB	4703	broad.mit.edu	37	2	152409936	152409936	+	Silent	SNP	C	C	T			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr2:152409936C>T	ENST00000172853.10	-	99	14751	c.14604G>A	c.(14602-14604)aaG>aaA	p.K4868K	NEB_ENST00000409198.1_Silent_p.K4868K|NEB_ENST00000603639.1_Silent_p.K6569K|NEB_ENST00000397345.3_Silent_p.K6569K|NEB_ENST00000427231.2_Silent_p.K6569K|NEB_ENST00000604864.1_Silent_p.K6569K			P20929	NEBU_HUMAN	nebulin	4868					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CATAAGCATGCTTGGCATGGA	0.398																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(19705-19707)aaG>aaA		nebulin							159.0	153.0	155.0					2																	152409936		1979	4157	6136	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152409936C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.14604G>A	2.37:g.152409936C>T						NEB_ENST00000604864.1_Silent_p.K6569K|NEB_ENST00000427231.2_Silent_p.K6569K|NEB_ENST00000172853.10_Silent_p.K4868K|NEB_ENST00000603639.1_Silent_p.K6569K|NEB_ENST00000409198.1_Silent_p.K4868K	p.K6569K	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	127	19909	-			4868			Interaction with SVIL.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.19707G>A																																																																																					0.398	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		26	48	0	0	0	1	0	26	48				
FAM214A	56204	broad.mit.edu	37	15	52901049	52901049	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr15:52901049T>C	ENST00000261844.7	-	6	2214	c.2062A>G	c.(2062-2064)Act>Gct	p.T688A	FAM214A_ENST00000546305.2_Missense_Mutation_p.T695A	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	688																	TCCAACACAGTAACTTTTATT	0.284																																						ENST00000261844.7																			0											c.(2062-2064)Act>Gct		family with sequence similarity 214, member A							81.0	74.0	76.0					15																	52901049		1791	4056	5847	SO:0001583	missense	56204							g.chr15:52901049T>C	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.2062A>G	15.37:g.52901049T>C	ENSP00000261844:p.Thr688Ala					FAM214A_ENST00000546305.2_Missense_Mutation_p.T695A	p.T688A	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN			6	2214	-			688					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	ENST00000261844.7	37	c.2062A>G	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	T	1.815	-0.473613	0.04414	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T	0.31510	1.49;1.49	6.16	0.834	0.18880	.	0.541762	0.21414	N	0.074938	T	0.16300	0.0392	N	0.25647	0.755	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.13407	0.009;0.004	T	0.12967	-1.0527	10	0.37606	T	0.19	.	2.9046	0.05716	0.1027:0.1901:0.1182:0.589	.	695;688	F5H8G0;Q32MH5	.;K1370_HUMAN	A	688;688;687;695	ENSP00000261844:T688A;ENSP00000443598:T695A	ENSP00000261844:T688A	T	-	1	0	KIAA1370	50688341	0.097000	0.21791	0.001000	0.08648	0.032000	0.12392	0.174000	0.16743	0.188000	0.20168	0.528000	0.53228	ACT		0.284	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		10	31	0	0	0	1	0	10	31				
GATSL3	652968	broad.mit.edu	37	22	30683477	30683477	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr22:30683477C>T	ENST00000407689.3	-	3	386	c.257G>A	c.(256-258)gGt>gAt	p.G86D	RP1-130H16.18_ENST00000447976.1_3'UTR|GATSL3_ENST00000459785.1_5'Flank|GATSL3_ENST00000404953.3_Missense_Mutation_p.G86D	NM_001037666.2	NP_001032755.1	Q8WTX7	GATL3_HUMAN	GATS protein-like 3	86										breast(1)|endometrium(1)|lung(1)	3						CACTGCCGCACCGCTGTGAGA	0.627											OREG0026457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000407689.3																			0				breast(1)|endometrium(1)|lung(1)	3						c.(256-258)gGt>gAt		GATS protein-like 3							30.0	35.0	34.0					22																	30683477		2198	4291	6489	SO:0001583	missense	652968							g.chr22:30683477C>T		CCDS43001.1	22q12	2010-06-23			ENSG00000239282	ENSG00000239282			34423	protein-coding gene	gene with protein product							Standard	NM_001037666		Approved			Q8WTX7	OTTHUMG00000150929	ENST00000407689.3:c.257G>A	22.37:g.30683477C>T	ENSP00000384183:p.Gly86Asp		OREG0026457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	819	GATSL3_ENST00000404953.3_Missense_Mutation_p.G86D|RP1-130H16.18_ENST00000447976.1_3'UTR	p.G86D	NM_001037666.2	NP_001032755.1					3	386	-								O76052|Q96ND9|Q9UIE8	Missense_Mutation	SNP	ENST00000407689.3	37	c.257G>A	CCDS43001.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.500263	0.44455	.	.	ENSG00000239282;ENSG00000239282;ENSG00000248751	ENST00000407689;ENST00000404953;ENST00000434291	T	0.09538	2.97	4.85	3.84	0.44239	.	0.312693	0.38959	N	0.001510	T	0.10508	0.0257	L	0.44542	1.39	0.09310	N	1	B;B	0.20164	0.042;0.042	B;B	0.22880	0.042;0.028	T	0.21211	-1.0252	10	0.25751	T	0.34	-13.0326	12.2121	0.54386	0.0:0.918:0.0:0.082	.	86;86	Q8WTX7;B7WPJ3	GATL3_HUMAN;.	D	86;86;275	ENSP00000401535:G275D	ENSP00000385868:G86D	G	-	2	0	RP1-130H16.18;GATSL3	29013477	0.033000	0.19621	0.043000	0.18650	0.895000	0.52256	2.796000	0.47869	1.287000	0.44583	0.561000	0.74099	GGT		0.627	GATSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320581.2	NM_001037666		21	35	0	0	0	1	0	21	35				
TEKT4P2	100132288	broad.mit.edu	37	21	9907222	9907222	+	RNA	SNP	T	T	C			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr21:9907222T>C	ENST00000416067.1	-	0	1570					NR_037872.1|NR_038327.1				tektin 4 pseudogene 2																		ATTTGGGGGATTGGGGGGAAG	0.587																																						ENST00000416067.1																			0																																																			0							g.chr21:9907222T>C			21p11.2	2012-10-03	2011-06-14	2011-06-14	ENSG00000188681	ENSG00000188681			40046	pseudogene	pseudogene			"""MAFF interacting protein-like"""	MAFIPL			Standard	NR_038327		Approved		uc021wgx.1		OTTHUMG00000172149		21.37:g.9907222T>C								NR_037872.1|NR_038327.1						0	1570	-									RNA	SNP	ENST00000416067.1	37																																																																																						0.587	TEKT4P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417115.1	NM_001033515		5	14	0	0	0	1	0	5	14				
TANC2	26115	broad.mit.edu	37	17	61498201	61498201	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr17:61498201C>T	ENST00000424789.2	+	25	4862	c.4858C>T	c.(4858-4860)Cca>Tca	p.P1620S	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.P1630S	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1620					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CCAGCCCAGCCCAGCCGTCCA	0.577																																						ENST00000424789.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						c.(4858-4860)Cca>Tca		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2							73.0	77.0	76.0					17																	61498201		2075	4217	6292	SO:0001583	missense	26115						binding	g.chr17:61498201C>T	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.4858C>T	17.37:g.61498201C>T	ENSP00000387593:p.Pro1620Ser					TANC2_ENST00000389520.4_Missense_Mutation_p.P1630S|RP11-269G24.3_ENST00000583552.1_RNA	p.P1620S	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN			25	4862	+			1620					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	c.4858C>T	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.642940	0.00792	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.61040	0.14;0.14	5.5	4.43	0.53597	.	0.160023	0.42420	N	0.000707	T	0.25232	0.0613	N	0.01874	-0.695	0.26032	N	0.98172	B	0.02656	0.0	B	0.01281	0.0	T	0.22730	-1.0208	10	0.02654	T	1	.	10.6066	0.45398	0.0:0.0766:0.0:0.9234	.	1620	Q9HCD6	TANC2_HUMAN	S	1630;1620	ENSP00000374171:P1630S;ENSP00000387593:P1620S	ENSP00000374171:P1630S	P	+	1	0	TANC2	58851933	1.000000	0.71417	0.999000	0.59377	0.848000	0.48234	1.189000	0.32114	0.949000	0.37715	-0.367000	0.07326	CCA		0.577	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			44	110	0	0	0	1	0	44	110				
ARHGEF12	23365	broad.mit.edu	37	11	120312904	120312904	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr11:120312904G>T	ENST00000397843.2	+	15	1461	c.1295G>T	c.(1294-1296)cGa>cTa	p.R432L	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.R413L|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.R329L	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	432	RGSL.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TTTCTAGATCGATCAGCAGTA	0.388			T	MLL	AML																																	ENST00000397843.2				Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61						c.(1294-1296)cGa>cTa		Rho guanine nucleotide exchange factor (GEF) 12							110.0	94.0	99.0					11																	120312904		1883	4123	6006	SO:0001583	missense	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120312904G>T	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.1295G>T	11.37:g.120312904G>T	ENSP00000380942:p.Arg432Leu					ARHGEF12_ENST00000356641.3_Missense_Mutation_p.R413L|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.R329L	p.R432L	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	15	1461	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	432			RGSL.		O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	c.1295G>T	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.848250	0.91277	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	D;D;D	0.83755	-1.76;-1.76;-1.76	5.45	5.45	0.79879	Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.000000	0.40302	N	0.001125	D	0.87728	0.6250	M	0.63428	1.95	0.48341	D	0.99963	D;P;P	0.65815	0.995;0.929;0.942	P;P;P	0.61201	0.885;0.682;0.787	D	0.87952	0.2724	10	0.62326	D	0.03	-8.2586	12.2076	0.54361	0.0787:0.0:0.9213:0.0	.	329;413;432	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	L	432;413;329	ENSP00000380942:R432L;ENSP00000349056:R413L;ENSP00000432984:R329L	ENSP00000349056:R413L	R	+	2	0	ARHGEF12	119818114	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	7.063000	0.76714	2.706000	0.92434	0.650000	0.86243	CGA		0.388	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		10	16	1	0	0.000673444	1	0.00070798	10	16				
SLC38A10	124565	broad.mit.edu	37	17	79219799	79219799	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr17:79219799G>A	ENST00000374759.3	-	16	3300	c.2917C>T	c.(2917-2919)Cag>Tag	p.Q973*		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	973					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CGGTGGCCCTGCTGTCCACCC	0.692																																						ENST00000374759.3																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(2917-2919)Cag>Tag		solute carrier family 38, member 10							23.0	27.0	26.0					17																	79219799		1985	4154	6139	SO:0001587	stop_gained	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79219799G>A	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.2917C>T	17.37:g.79219799G>A	ENSP00000363891:p.Gln973*						p.Q973*	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		16	3300	-	all_neural(118;0.0804)|Melanoma(429;0.242)		973					Q6ZRC5|Q8NA99|Q96C66	Nonsense_Mutation	SNP	ENST00000374759.3	37	c.2917C>T	CCDS42397.1	.	.	.	.	.	.	.	.	.	.	G	40	8.395263	0.98791	.	.	ENSG00000157637	ENST00000374759	.	.	.	2.36	1.36	0.22044	.	300.001000	0.00166	U	0.000008	.	.	.	.	.	.	0.19945	N	0.999943	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	5.9535	0.19261	0.162:0.0:0.838:0.0	.	.	.	.	X	973	.	ENSP00000363891:Q973X	Q	-	1	0	SLC38A10	76834394	0.008000	0.16893	0.562000	0.28370	0.253000	0.25986	0.055000	0.14229	0.207000	0.20607	0.467000	0.42956	CAG		0.692	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		34	48	0	0	0	1	0	34	48				
VNN3	55350	broad.mit.edu	37	6	133047924	133047924	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr6:133047924C>T	ENST00000450865.2	-	3	473	c.401G>A	c.(400-402)gGc>gAc	p.G134D	VNN3_ENST00000275223.3_Intron|VNN3_ENST00000417437.2_Intron|VNN3_ENST00000207771.3_Missense_Mutation_p.A255T|VNN3_ENST00000425515.2_3'UTR|VNN3_ENST00000580813.1_5'Flank|VNN3_ENST00000519686.2_3'UTR|VNN3_ENST00000427187.2_Intron|VNN3_ENST00000414302.2_3'UTR|VNN3_ENST00000367927.5_Silent_p.G255G|VNN3_ENST00000392393.3_3'UTR|VNN3_ENST00000509351.1_Intron|VNN3_ENST00000423615.2_Intron			Q9NY84	VNN3_HUMAN	vanin 3	494	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				nitrogen compound metabolic process (GO:0006807)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		ATGGCCTTGGCCCATGCTGAA	0.547																																						ENST00000207771.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						c.(763-765)Gcc>Acc		vanin 3							213.0	163.0	180.0					6																	133047924		2203	4300	6503	SO:0001583	missense	55350							g.chr6:133047924C>T	AJ238982		6q23.2	2014-04-09	2010-11-15	2010-11-15	ENSG00000093134	ENSG00000093134	3.5.1.92	"""Vanins"""	16431	other	unknown		606592				10501839, 19932582, 19322213	Standard	NR_028290		Approved	HSA238982	uc010kfs.3	Q9NY84	OTTHUMG00000015589	ENST00000450865.2:c.401G>A	6.37:g.133047924C>T	ENSP00000440245:p.Gly134Asp					VNN3_ENST00000417437.2_Intron|VNN3_ENST00000427187.2_Intron|VNN3_ENST00000425515.2_3'UTR|VNN3_ENST00000519686.2_3'UTR|VNN3_ENST00000275223.3_Intron|VNN3_ENST00000367927.5_Silent_p.G255G|VNN3_ENST00000423615.2_Intron|VNN3_ENST00000392393.3_3'UTR|VNN3_ENST00000414302.2_3'UTR|VNN3_ENST00000450865.2_Missense_Mutation_p.G134D|VNN3_ENST00000509351.1_Intron	p.A255T						OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)	5	835	-	Breast(56;0.135)							B2DFY0|B2DFY1|B2DFY3|B2DFY5|B2DFY6|B2DFY7|B2DFY8|Q3SX90|Q9BQY2	Missense_Mutation	SNP	ENST00000450865.2	37	c.763G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.470|5.470	0.271739|0.271739	0.10349|0.10349	.|.	.|.	ENSG00000093134|ENSG00000093134	ENST00000207771|ENST00000450865	D|D	0.95069|0.83837	-3.6|-1.77	5.43|5.43	4.55|4.55	0.56014|0.56014	.|.	0.000000|.	0.64402|.	D|.	0.000005|.	D|D	0.87014|0.87014	0.6072|0.6072	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	D|D	0.89223|0.89223	0.3572|0.3572	7|6	0.87932|0.87932	D|D	0|0	-29.3635|-29.3635	15.8165|15.8165	0.78604|0.78604	0.1373:0.8627:0.0:0.0|0.1373:0.8627:0.0:0.0	.|.	.|.	.|.	.|.	T|D	255|134	ENSP00000440594:A255T|ENSP00000440245:G134D	ENSP00000440594:A255T|ENSP00000440245:G134D	A|G	-|-	1|2	0|0	VNN3|VNN3	133089617|133089617	1.000000|1.000000	0.71417|0.71417	0.619000|0.619000	0.29118|0.29118	0.002000|0.002000	0.02628|0.02628	2.077000|2.077000	0.41557|0.41557	1.411000|1.411000	0.46957|0.46957	-0.282000|-0.282000	0.10007|0.10007	GCC|GGC		0.547	VNN3-013	NOVEL	NMD_exception|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000398418.1	NR_028290		5	144	0	0	0	1	0	5	144				
MAPK15	225689	broad.mit.edu	37	8	144803509	144803509	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr8:144803509C>T	ENST00000338033.4	+	11	1251	c.1132C>T	c.(1132-1134)Cct>Tct	p.P378S	RP11-429J17.5_ENST00000527908.1_RNA	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	378					MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCCTCAGCTGCCTTCTAGGAC	0.672																																						ENST00000338033.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12						c.(1132-1134)Cct>Tct		mitogen-activated protein kinase 15							53.0	70.0	64.0					8																	144803509		1985	4146	6131	SO:0001583	missense	225689				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding	g.chr8:144803509C>T	AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"""Mitogen-activated protein kinase cascade / Kinases"""	24667	protein-coding gene	gene with protein product	"""extracellular signal regulated kinase 8"""					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.1132C>T	8.37:g.144803509C>T	ENSP00000337691:p.Pro378Ser						p.P378S	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		11	1251	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		378					Q2TCF9|Q8N362	Missense_Mutation	SNP	ENST00000338033.4	37	c.1132C>T	CCDS6409.2	.	.	.	.	.	.	.	.	.	.	c	6.621	0.482935	0.12581	.	.	ENSG00000181085	ENST00000338033	T	0.73789	-0.78	2.91	-5.77	0.02369	.	1.843550	0.02743	N	0.116520	T	0.42314	0.1197	N	0.04880	-0.145	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.51060	-0.8753	10	0.02654	T	1	-20.3103	1.2113	0.01905	0.1525:0.2644:0.1505:0.4325	.	378	Q8TD08	MK15_HUMAN	S	378	ENSP00000337691:P378S	ENSP00000337691:P378S	P	+	1	0	MAPK15	144875497	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-4.533000	0.00219	-1.763000	0.01307	-0.444000	0.05651	CCT		0.672	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000300348.1	NM_139021		63	95	0	0	0	1	0	63	95				
LDHB	3945	broad.mit.edu	37	12	21797028	21797028	+	Missense_Mutation	SNP	C	C	T	rs145369309		TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr12:21797028C>T	ENST00000396076.1	-	4	594	c.262G>A	c.(262-264)Gcc>Acc	p.A88T	LDHB_ENST00000350669.1_Missense_Mutation_p.A88T	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B	88					cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|lactate metabolic process (GO:0006089)|NAD metabolic process (GO:0019674)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	L-lactate dehydrogenase activity (GO:0004459)|NAD binding (GO:0051287)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26						TTAGAATTGGCAGTCACAGAA	0.373																																						ENST00000396076.1																			0				breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26						c.(262-264)Gcc>Acc		lactate dehydrogenase B	NADH(DB00157)	C	THR/ALA,THR/ALA	1,4405		0,1,2202	64.0	59.0	61.0		262,262	5.6	1.0	12	dbSNP_134	61	0,8600		0,0,4300	no	missense,missense	LDHB	NM_001174097.1,NM_002300.6	58,58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	88/335,88/335	21797028	1,13005	2203	4300	6503	SO:0001583	missense	3945				glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity	g.chr12:21797028C>T		CCDS8691.1	12p12.2-p12.1	2012-10-02			ENSG00000111716	ENSG00000111716	1.1.1.27		6541	protein-coding gene	gene with protein product		150100					Standard	NM_002300		Approved		uc001rfe.3	P07195	OTTHUMG00000133760	ENST00000396076.1:c.262G>A	12.37:g.21797028C>T	ENSP00000379386:p.Ala88Thr					LDHB_ENST00000350669.1_Missense_Mutation_p.A88T	p.A88T	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN			4	594	-			88						Missense_Mutation	SNP	ENST00000396076.1	37	c.262G>A	CCDS8691.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937175	0.92458	2.27E-4	0.0	ENSG00000111716	ENST00000396076;ENST00000350669;ENST00000396075;ENST00000450584;ENST00000539782	D;D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38;-2.38	5.61	5.61	0.85477	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.92577	0.7642	M	0.77616	2.38	0.80722	D	1	P	0.44816	0.844	P	0.49683	0.619	D	0.92975	0.6401	10	0.66056	D	0.02	.	19.6465	0.95778	0.0:1.0:0.0:0.0	.	88	P07195	LDHB_HUMAN	T	88	ENSP00000379386:A88T;ENSP00000229319:A88T;ENSP00000379385:A88T;ENSP00000398015:A88T;ENSP00000442680:A88T	ENSP00000229319:A88T	A	-	1	0	LDHB	21688295	1.000000	0.71417	0.967000	0.41034	0.775000	0.43874	5.952000	0.70282	2.644000	0.89710	0.508000	0.49915	GCC		0.373	LDHB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258220.2	NM_002300		3	49	0	0	0	1	0	3	49				
PRR19	284338	broad.mit.edu	37	19	42814088	42814088	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr19:42814088C>T	ENST00000499536.2	+	1	1163	c.352C>T	c.(352-354)Cca>Tca	p.P118S	PRR19_ENST00000598490.1_Missense_Mutation_p.P118S|PRR19_ENST00000341747.3_Missense_Mutation_p.P118S			A6NJB7	PRR19_HUMAN	proline rich 19	118										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				GGAACCAGCCCCACGGTCCAG	0.672																																						ENST00000499536.2																			0				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10						c.(352-354)Cca>Tca		proline rich 19							35.0	44.0	41.0					19																	42814088		2203	4300	6503	SO:0001583	missense	284338							g.chr19:42814088C>T	AK124116	CCDS33036.1	19q13.2	2007-12-17				ENSG00000188368			33728	protein-coding gene	gene with protein product							Standard	NM_199285		Approved	MGC70924	uc002oti.3	A6NJB7		ENST00000499536.2:c.352C>T	19.37:g.42814088C>T	ENSP00000445247:p.Pro118Ser					PRR19_ENST00000341747.3_Missense_Mutation_p.P118S|PRR19_ENST00000598490.1_Missense_Mutation_p.P118S	p.P118S			A6NJB7	PRR19_HUMAN			1	1163	+		Prostate(69;0.00682)	118					A8K663|B3KW48|Q6P584	Missense_Mutation	SNP	ENST00000499536.2	37	c.352C>T	CCDS33036.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.964419	0.00461	.	.	ENSG00000188368	ENST00000341747;ENST00000499536	.	.	.	4.29	-0.236	0.13067	.	1.209420	0.06283	N	0.697670	T	0.18593	0.0446	N	0.12182	0.205	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.005	T	0.27297	-1.0078	9	0.12103	T	0.63	-3.8251	6.7197	0.23323	0.0:0.5998:0.0:0.4002	.	118;118	A6NJB7;A6NJB7-2	PRR19_HUMAN;.	S	118	.	ENSP00000342709:P118S	P	+	1	0	PRR19	47505928	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.806000	0.04525	-0.031000	0.13781	-0.254000	0.11334	CCA		0.672	PRR19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463735.1	NM_199285		5	22	0	0	0	1	0	5	22				
TUBA4B	80086	broad.mit.edu	37	2	220136248	220136248	+	RNA	SNP	G	G	A			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr2:220136248G>A	ENST00000490341.1	+	0	718					NR_003063.1		Q9H853	TBA4B_HUMAN	tubulin, alpha 4b (pseudogene)						microtubule-based process (GO:0007017)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|structural constituent of cytoskeleton (GO:0005200)										GCGCTTTGACGGGGCCCTCAA	0.552																																						ENST00000490341.1																			0																																																			0							g.chr2:220136248G>A	AK024002		2q35	2014-03-20	2007-03-16	2007-02-12	ENSG00000243910	ENSG00000243910		"""Tubulins"""	18637	pseudogene	pseudogene			"""tubulin, alpha 4"", ""tubulin, alpha 4b"""	TUBA4		3785200	Standard	NR_003063		Approved	FLJ13940	uc002vkv.1	Q9H853	OTTHUMG00000154516		2.37:g.220136248G>A								NR_003063.1						0	718	+									RNA	SNP	ENST00000490341.1	37																																																																																						0.552	TUBA4B-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000335637.1	NR_003063		4	78	0	0	0	1	0	4	78				
IL6ST	3572	broad.mit.edu	37	5	55259245	55259245	+	Missense_Mutation	SNP	T	T	G			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr5:55259245T>G	ENST00000381298.2	-	7	1060	c.748A>C	c.(748-750)Aag>Cag	p.K250Q	IL6ST_ENST00000522633.2_Missense_Mutation_p.K250Q|IL6ST_ENST00000381293.2_Missense_Mutation_p.K84Q|IL6ST_ENST00000577363.1_5'Flank|IL6ST_ENST00000536319.1_Missense_Mutation_p.K250Q|IL6ST_ENST00000381287.4_Missense_Mutation_p.K250Q|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381294.3_Missense_Mutation_p.K250Q|IL6ST_ENST00000336909.5_Missense_Mutation_p.K250Q|IL6ST_ENST00000502326.3_Missense_Mutation_p.K250Q	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	250	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				ATAACACTCTTAATACTTGGG	0.343			O		hepatocellular ca																																	ENST00000381298.2				Dom	yes		5	5q11	3572	O	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			E			hepatocellular ca		0				breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(748-750)Aag>Cag		interleukin 6 signal transducer (gp130, oncostatin M receptor)							91.0	93.0	93.0					5																	55259245		2203	4298	6501	SO:0001583	missense	3572				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	g.chr5:55259245T>G	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.748A>C	5.37:g.55259245T>G	ENSP00000370698:p.Lys250Gln					IL6ST_ENST00000502326.3_Missense_Mutation_p.K250Q|IL6ST_ENST00000522633.2_Missense_Mutation_p.K250Q|IL6ST_ENST00000381294.3_Missense_Mutation_p.K250Q|IL6ST_ENST00000381293.2_Missense_Mutation_p.K84Q|IL6ST_ENST00000536319.1_Missense_Mutation_p.K250Q|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000336909.5_Missense_Mutation_p.K250Q|IL6ST_ENST00000381287.4_Missense_Mutation_p.K250Q	p.K250Q	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN			7	1060	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)	250			Fibronectin type-III 2.		A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	ENST00000381298.2	37	c.748A>C	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	T	2.612	-0.290469	0.05568	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294;ENST00000381287;ENST00000536319;ENST00000381293;ENST00000522633;ENST00000542298	T;T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42;0.42	5.91	-7.41	0.01392	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.497503	0.22605	N	0.057918	T	0.20536	0.0494	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.28291	0.206;0.0;0.001;0.0	B;B;B;B	0.22601	0.04;0.001;0.001;0.002	T	0.32025	-0.9922	10	0.13108	T	0.6	.	5.7128	0.17945	0.0919:0.3851:0.3788:0.1441	.	84;250;250;250	Q5FC05;Q5FC04;P40189-2;P40189	.;.;.;IL6RB_HUMAN	Q	250;250;250;250;250;84;250;250	ENSP00000370698:K250Q;ENSP00000338799:K250Q;ENSP00000370694:K250Q;ENSP00000370687:K250Q;ENSP00000444456:K250Q;ENSP00000370693:K84Q;ENSP00000435399:K250Q	ENSP00000338799:K250Q	K	-	1	0	IL6ST	55295002	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.935000	0.01550	-1.237000	0.02539	0.533000	0.62120	AAG		0.343	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184		5	38	0	0	0	1	0	5	38				
ANKRD36	375248	broad.mit.edu	37	2	97808574	97808575	+	Splice_Site	INS	-	-	A	rs376259802		TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr2:97808574_97808575insA	ENST00000461153.2	+	8	1145		c.e8+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36									p.?(1)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CTGGGACAGGTATTTTGGAATA	0.366																																						ENST00000420699.2																			1	Unknown(1)	p.?(1)	upper_aerodigestive_tract(1)	endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.e8+2		ankyrin repeat domain 36																																				SO:0001630	splice_region_variant	375248							g.chr2:97808574_97808575insA	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.901+2->A	2.37:g.97808575_97808575dupA						ANKRD36_ENST00000461153.2_Splice_Site		NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			8	1145	+								B4E3I8|Q6UX02|Q86X62|Q9HCD1	Splice_Site	INS	ENST00000461153.2	37		CCDS54379.1																																																																																				0.366	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5		Intron	6	4						6	4	---	---	---	---
TREX1	11277	broad.mit.edu	37	3	48508260	48508261	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr3:48508260_48508261delTG	ENST00000422277.2	+	1	1032_1033	c.371_372delTG	c.(370-372)ctgfs	p.L124fs	TREX1_ENST00000436480.2_Frame_Shift_Del_p.L69fs|TREX1_ENST00000296443.9_Frame_Shift_Del_p.L69fs|TREX1_ENST00000433541.1_5'UTR|TREX1_ENST00000444177.1_Frame_Shift_Del_p.L59fs|SHISA5_ENST00000465449.1_5'Flank|TREX1_ENST00000456089.1_Intron|TREX1_ENST00000492235.1_3'UTR	NM_016381.4	NP_057465.1	Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	124					cell death (GO:0008219)|cellular response to interferon-beta (GO:0035458)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|innate immune response (GO:0045087)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	endoplasmic reticulum membrane (GO:0005789)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|3'-5'-exodeoxyribonuclease activity (GO:0008296)|adenyl deoxyribonucleotide binding (GO:0032558)|double-stranded DNA binding (GO:0003690)|exodeoxyribonuclease III activity (GO:0008853)|metal ion binding (GO:0046872)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein homodimerization activity (GO:0042803)|single-stranded DNA binding (GO:0003697)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		AAGCTCTCCCTGTGTGTGGCTC	0.634																																						ENST00000296443.9																			0				breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9						c.(205-207)cfs		three prime repair exonuclease 1																																				SO:0001589	frameshift_variant	11277				cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding	g.chr3:48508260_48508261delTG	AF151105	CCDS2769.1, CCDS59451.1	3p21.31	2014-09-17			ENSG00000213689	ENSG00000213689			12269	protein-coding gene	gene with protein product		606609	"""Aicardi-Goutieres syndrome 1"""	AGS1		10391904, 10393201, 16845398	Standard	NM_033629		Approved	DRN3	uc010hka.4	Q9NSU2	OTTHUMG00000156205	ENST00000422277.2:c.371_372delTG	3.37:g.48508266_48508267delTG	ENSP00000390478:p.Leu124fs					TREX1_ENST00000492235.1_3'UTR|TREX1_ENST00000444177.1_Frame_Shift_Del_p.L59fs|TREX1_ENST00000422277.2_Frame_Shift_Del_p.L124fs|TREX1_ENST00000436480.2_Frame_Shift_Del_p.L69fs|TREX1_ENST00000433541.1_5'UTR|TREX1_ENST00000456089.1_Intron	p.L69fs			Q9NSU2	TREX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	3	1093_1094	+			124					B2RCN9|Q8TEU2|Q9BPW1|Q9Y4X2	Frame_Shift_Del	DEL	ENST00000422277.2	37	c.206_207delTG	CCDS43086.1																																																																																				0.634	TREX1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_016381		67	146						67	146	---	---	---	---
ZBTB20	26137	broad.mit.edu	37	3	114058232	114058234	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr3:114058232_114058234delAGA	ENST00000474710.1	-	5	2022_2024	c.1844_1846delTCT	c.(1843-1848)ttctcc>tcc	p.F615del	ZBTB20_ENST00000462705.1_In_Frame_Del_p.F542del|ZBTB20_ENST00000393785.2_In_Frame_Del_p.F542del|ZBTB20_ENST00000464560.1_In_Frame_Del_p.F542del|ZBTB20_ENST00000481632.1_In_Frame_Del_p.F542del|ZBTB20_ENST00000357258.3_In_Frame_Del_p.F542del|ZBTB20_ENST00000471418.1_In_Frame_Del_p.F542del	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	615						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TCCTTTAAGGAGAAGGAGCGCCA	0.502																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1624-1629)tcc>t		zinc finger and BTB domain containing 20																																				SO:0001651	inframe_deletion	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114058232_114058234delAGA	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1844_1846delTCT	3.37:g.114058232_114058234delAGA	ENSP00000419153:p.Phe615del					ZBTB20_ENST00000393785.2_In_Frame_Del_p.FS542del|ZBTB20_ENST00000357258.3_In_Frame_Del_p.FS542del|ZBTB20_ENST00000481632.1_In_Frame_Del_p.FS542del|ZBTB20_ENST00000464560.1_In_Frame_Del_p.FS542del|ZBTB20_ENST00000471418.1_In_Frame_Del_p.FS542del|ZBTB20_ENST00000474710.1_In_Frame_Del_p.FS615del	p.FS542del	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	12	2446_2448	-			615					Q63HP6|Q8N6R5|Q9Y410	In_Frame_Del	DEL	ENST00000474710.1	37	c.1625_1627delTCT	CCDS54626.1																																																																																				0.502	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		28	68						28	68	---	---	---	---
MBD4	8930	broad.mit.edu	37	3	129155397	129155399	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr3:129155397_129155399delCTT	ENST00000249910.1	-	3	1263_1265	c.1088_1090delAAG	c.(1087-1092)gaagtt>gtt	p.E363del	MBD4_ENST00000507208.1_In_Frame_Del_p.E363del|MBD4_ENST00000393278.2_Intron|MBD4_ENST00000429544.2_In_Frame_Del_p.E363del|MBD4_ENST00000503197.1_In_Frame_Del_p.E363del|MBD4_ENST00000509587.1_Intron	NM_003925.1	NP_003916.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	363					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						CTTTCCACAACTTCTACTTTTGT	0.384								Base excision repair (BER), DNA glycosylases																														ENST00000429544.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						c.(1087-1092)gtt>g	Base excision repair (BER), DNA glycosylases	methyl-CpG binding domain protein 4																																				SO:0001651	inframe_deletion	8930				depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding	g.chr3:129155397_129155399delCTT	AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071			6919	protein-coding gene	gene with protein product		603574				9774669, 10097147	Standard	NM_003925		Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000249910.1:c.1088_1090delAAG	3.37:g.129155397_129155399delCTT	ENSP00000249910:p.Glu363del					MBD4_ENST00000503197.1_In_Frame_Del_p.EV363del|MBD4_ENST00000249910.1_In_Frame_Del_p.EV363del|MBD4_ENST00000507208.1_In_Frame_Del_p.EV363del|MBD4_ENST00000393278.2_Intron|MBD4_ENST00000509587.1_Intron	p.EV363del	NM_001276270.1	NP_001263199.1	O95243	MBD4_HUMAN			3	1283_1285	-			363					B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	In_Frame_Del	DEL	ENST00000249910.1	37	c.1088_1090delAAG	CCDS3058.1																																																																																				0.384	MBD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355529.1	NM_003925		24	53						24	53	---	---	---	---
DST	667	broad.mit.edu	37	6	56336894	56336896	+	In_Frame_Del	DEL	CTT	CTT	-	rs192453671	byFrequency	TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr6:56336894_56336896delCTT	ENST00000361203.3	-	89	21166_21168	c.21159_21161delAAG	c.(21157-21162)agaagg>agg	p.7053_7054RR>R	DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_In_Frame_Del_p.4750_4751RR>R|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_In_Frame_Del_p.7164_7165RR>R|DST_ENST00000446842.2_In_Frame_Del_p.6838_6839RR>R|DST_ENST00000370754.5_In_Frame_Del_p.7342_7343RR>R|DST_ENST00000370788.2_In_Frame_Del_p.4967_4968RR>R			Q03001	DYST_HUMAN	dystonin	7162					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GAGTTTCCTCCTTCTTTCCAACG	0.453																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(22024-22029)agg>ag		dystonin																																				SO:0001651	inframe_deletion	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56336894_56336896delCTT	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.21159_21161delAAG	6.37:g.56336897_56336899delCTT	ENSP00000354508:p.Arg7055del					DST_ENST00000244364.6_In_Frame_Del_p.RR4750del|DST_ENST00000370788.2_In_Frame_Del_p.RR4967del|DST_ENST00000361203.3_In_Frame_Del_p.RR7053del|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_In_Frame_Del_p.RR6838del|DST_ENST00000370769.4_In_Frame_Del_p.RR7164del|DST_ENST00000421834.2_Intron	p.RR7342del			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		94	22025_22027	-	Lung NSC(77;0.103)		7162			GAR.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	In_Frame_Del	DEL	ENST00000361203.3	37	c.22026_22028delAAG																																																																																					0.453	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		47	103						47	103	---	---	---	---
MYO6	4646	broad.mit.edu	37	6	76604544	76604544	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr6:76604544delC	ENST00000369981.3	+	29	3403	c.3124delC	c.(3124-3126)ccgfs	p.P1042fs	MYO6_ENST00000369975.1_Intron|MYO6_ENST00000369977.3_Intron|MYO6_ENST00000369985.4_Intron			Q9UM54	MYO6_HUMAN	myosin VI	1042					actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GGATTCCTATCCGGTAACTTC	0.289																																						ENST00000369981.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(3124-3126)cgfs		myosin VI							5.0	5.0	5.0					6																	76604544		839	1928	2767	SO:0001589	frameshift_variant	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76604544delC	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369981.3:c.3124delC	6.37:g.76604544delC	ENSP00000358998:p.Pro1042fs					MYO6_ENST00000369975.1_Intron|MYO6_ENST00000369977.3_Intron|MYO6_ENST00000369985.4_Intron	p.P1042fs			Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	29	3403	+		all_hematologic(105;0.189)	1042					A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Frame_Shift_Del	DEL	ENST00000369981.3	37	c.3124delC																																																																																					0.289	MYO6-201	KNOWN	basic	protein_coding	protein_coding		NM_004999		2	4						2	4	---	---	---	---
ABCB1	5243	broad.mit.edu	37	7	87170760	87170762	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr7:87170760_87170762delATC	ENST00000265724.3	-	19	2647_2649	c.2230_2232delGAT	c.(2230-2232)gatdel	p.D744del	ABCB1_ENST00000543898.1_In_Frame_Del_p.D680del	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	744	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TTGTTTCAGGATCATCAATTCTT	0.355																																						ENST00000265724.3																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(2230-2232)del		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)																																			SO:0001651	inframe_deletion	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87170760_87170762delATC	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2230_2232delGAT	7.37:g.87170763_87170765delATC	ENSP00000265724:p.Asp744del					ABCB1_ENST00000543898.1_In_Frame_Del_p.D680del	p.D744del	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			19	2647_2649	-	Esophageal squamous(14;0.00164)		744			ABC transmembrane type-1 2.		A8K294|B5AK60|Q12755|Q14812	In_Frame_Del	DEL	ENST00000265724.3	37	c.2230_2232delGAT	CCDS5608.1																																																																																				0.355	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		10	79						10	79	---	---	---	---
DOK2	9046	broad.mit.edu	37	8	21769438	21769438	+	Frame_Shift_Del	DEL	T	T	-			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr8:21769438delT	ENST00000276420.4	-	3	665	c.407delA	c.(406-408)aatfs	p.N136fs	DOK2_ENST00000544659.1_Intron	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	136					blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|leukocyte migration (GO:0050900)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	receptor signaling protein activity (GO:0005057)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		GTACAATTCATTTTCCTCCAT	0.667																																						ENST00000276420.4																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26						c.(406-408)atfs		docking protein 2, 56kDa							68.0	62.0	64.0					8																	21769438		2189	4281	6470	SO:0001589	frameshift_variant	9046				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding	g.chr8:21769438delT	AF034970	CCDS6016.1	8p21.3	2008-08-07	2002-08-29		ENSG00000147443	ENSG00000147443			2991	protein-coding gene	gene with protein product		604997	"""docking protein 2, 56kD"""			9478921, 14645010	Standard	NM_003974		Approved	p56dok-2, Dok-2	uc003wzy.1	O60496	OTTHUMG00000131075	ENST00000276420.4:c.407delA	8.37:g.21769438delT	ENSP00000276420:p.Asn136fs					DOK2_ENST00000544659.1_Intron	p.N136fs	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN		Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)	3	665	-			136					Q8N5A4	Frame_Shift_Del	DEL	ENST00000276420.4	37	c.407delA	CCDS6016.1																																																																																				0.667	DOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253735.3	NM_003974		2	4						2	4	---	---	---	---
EFR3A	23167	broad.mit.edu	37	8	132968053	132968055	+	In_Frame_Del	DEL	AAG	AAG	-	rs138896182		TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr8:132968053_132968055delAAG	ENST00000254624.5	+	7	902_904	c.677_679delAAG	c.(676-681)aaagaa>aaa	p.E228del	EFR3A_ENST00000334503.4_In_Frame_Del_p.E228del|EFR3A_ENST00000519656.1_In_Frame_Del_p.E192del	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	228						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			GCAACTGACAAAGAAGAGAATCC	0.384																																						ENST00000254624.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35						c.(676-681)aaa>a		EFR3 homolog A (S. cerevisiae)																																				SO:0001651	inframe_deletion	23167					plasma membrane	binding	g.chr8:132968053_132968055delAAG	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.677_679delAAG	8.37:g.132968056_132968058delAAG	ENSP00000254624:p.Glu228del					EFR3A_ENST00000334503.4_In_Frame_Del_p.KE226del|EFR3A_ENST00000519656.1_In_Frame_Del_p.KE190del	p.KE226del	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		7	902_904	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		226					A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	In_Frame_Del	DEL	ENST00000254624.5	37	c.677_679delAAG	CCDS34942.2																																																																																				0.384	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		35	107						35	107	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139413129	139413131	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr9:139413129_139413131delTCA	ENST00000277541.6	-	6	1086_1088	c.1011_1013delTGA	c.(1009-1014)gatgac>gac	p.337_338DD>D	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	337	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCTGGCACAGTCATCAATGTTCT	0.631			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1009-1014)gac>ga		notch 1																																				SO:0001651	inframe_deletion	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139413129_139413131delTCA	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1011_1013delTGA	9.37:g.139413132_139413134delTCA	ENSP00000277541:p.Asp338del	HNSCC(8;0.001)					p.DD337del	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	6	1086_1088	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	337			EGF-like 9; calcium-binding (Potential).		Q59ED8|Q5SXM3	In_Frame_Del	DEL	ENST00000277541.6	37	c.1011_1013delTGA	CCDS43905.1																																																																																				0.631	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		14	46						14	46	---	---	---	---
ZNF106	64397	broad.mit.edu	37	15	42731630	42731632	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr15:42731630_42731632delTTC	ENST00000263805.4	-	8	4400_4402	c.4074_4076delGAA	c.(4072-4077)aagaaa>aaa	p.1358_1359KK>K	ZNF106_ENST00000565611.1_In_Frame_Del_p.543_544KK>K|ZNF106_ENST00000565380.1_In_Frame_Del_p.586_587KK>K	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1358					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.K1358K(1)									CCGTAGACTTTTCTTCTTCCGGA	0.438																																						ENST00000263805.4																			1	Substitution - coding silent(1)	p.K1358K(1)	cervix(1)								c.(4072-4077)aaa>aa		zinc finger protein 106																																				SO:0001651	inframe_deletion	64397							g.chr15:42731630_42731632delTTC	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.4074_4076delGAA	15.37:g.42731636_42731638delTTC	ENSP00000263805:p.Lys1359del					ZNF106_ENST00000565380.1_In_Frame_Del_p.KK586del|ZNF106_ENST00000565611.1_In_Frame_Del_p.KK543del	p.KK1358del	NM_022473.1	NP_071918.1					8	4400_4402	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	In_Frame_Del	DEL	ENST00000263805.4	37	c.4074_4076delGAA	CCDS32208.1																																																																																				0.438	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		8	230						8	230	---	---	---	---
BCRP7	100133163	broad.mit.edu	37	22	18843723	18843724	+	Intron	INS	-	-	A	rs551366566|rs370464593		TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr22:18843723_18843724insA	ENST00000412938.1	+	4	2337																											AGGGGCACCCCACGGCCTGGAG	0.619																																						ENST00000412938.1																			0																																																	SO:0001627	intron_variant	0							g.chr22:18843723_18843724insA																												ENST00000412938.1:c.2337+292->A	22.37:g.18843724_18843724dupA														0	2337	+									RNA	INS	ENST00000412938.1	37																																																																																						0.619	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			8	16						8	16	---	---	---	---
