#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
FSIP2	401024	broad.mit.edu	37	2	186671327	186671327	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr2:186671327C>T	ENST00000424728.1	+	17	17294	c.17294C>T	c.(17293-17295)cCc>cTc	p.P5765L	FSIP2_ENST00000343098.5_Missense_Mutation_p.P5854L			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5765										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAAAGTGAACCCAGTAAACCA	0.343																																						ENST00000343098.5																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						c.(17560-17562)cCc>cTc		fibrous sheath interacting protein 2							76.0	71.0	72.0					2																	186671327		1810	4066	5876	SO:0001583	missense	401024							g.chr2:186671327C>T	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.17294C>T	2.37:g.186671327C>T	ENSP00000401306:p.Pro5765Leu					FSIP2_ENST00000424728.1_Missense_Mutation_p.P5765L	p.P5854L	NM_173651.2	NP_775922.2					17	17561	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37	c.17561C>T		.	.	.	.	.	.	.	.	.	.	C	13.20	2.166685	0.38217	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.56941	0.43;0.44	5.06	3.25	0.37280	.	.	.	.	.	T	0.43500	0.1250	L	0.29908	0.895	0.09310	N	1	.	.	.	.	.	.	T	0.33471	-0.9867	7	0.49607	T	0.09	.	7.6852	0.28536	0.0:0.8082:0.0:0.1918	.	.	.	.	L	5854;5765	ENSP00000344403:P5854L;ENSP00000401306:P5765L	ENSP00000344403:P5854L	P	+	2	0	FSIP2	186379572	0.004000	0.15560	0.001000	0.08648	0.339000	0.28857	1.956000	0.40382	0.707000	0.31934	0.591000	0.81541	CCC		0.343	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		3	62	0	0	0	1	0	3	62				
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C	rs202014361	byFrequency	TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr10:47207813T>C	ENST00000452145.2	-	4	506	c.395A>G	c.(394-396)cAt>cGt	p.H132R	AGAP10_ENST00000413193.2_Splice_Site_p.H228R|AGAP10_ENST00000355232.3_Splice_Site_p.H157R|RP11-144G6.12_ENST00000605970.1_RNA			Q5T2P9	AGA10_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 10	132					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294																																						ENST00000355232.3																			20	Substitution - Missense(20)	p.H228R(20)	endometrium(10)|prostate(4)|kidney(4)|urinary_tract(2)	endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						c.e5+1		ArfGAP with GTPase domain, ankyrin repeat and PH domain 10																																				SO:0001630	splice_region_variant	728127							g.chr10:47207813T>C	BC075841		10q11.22	2013-01-11	2008-09-22	2008-09-22	ENSG00000204172	ENSG00000204172		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23462	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 7"""	CTGLF7			Standard	XM_006709937		Approved	bA144G6.2		Q5T2P9	OTTHUMG00000018115	ENST00000452145.2:c.396+1A>G	10.37:g.47207813T>C						AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|RP11-144G6.12_ENST00000605970.1_RNA	p.H157_splice							5	3482	-									Splice_Site	SNP	ENST00000452145.2	37	c.471_splice		.	.	.	.	.	.	.	.	.	.	t	0.012	-1.675265	0.00751	.	.	ENSG00000204172	ENST00000452145;ENST00000413193;ENST00000355232	D;T;D	0.87966	-2.32;2.68;-2.32	1.4	1.4	0.22301	.	0.264128	0.34555	N	0.003879	T	0.72486	0.3466	.	.	.	0.20764	N	0.999856	B	0.22003	0.063	B	0.19666	0.026	T	0.55471	-0.8136	9	0.16896	T	0.51	.	6.9024	0.24291	0.0:0.0:0.0:1.0	.	132	Q5T2P9	AGA10_HUMAN	R	132;228;157	ENSP00000392206:H132R;ENSP00000407436:H228R;ENSP00000347372:H157R	ENSP00000347372:H157R	H	-	2	0	AGAP10	46627819	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	3.704000	0.54815	0.898000	0.36418	0.163000	0.16589	CAT		0.294	AGAP10-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000047845.2	XM_001714786.2	Missense_Mutation	6	30	0	0	0	1	0	6	30				
MANEAL	149175	broad.mit.edu	37	1	38261411	38261411	+	Missense_Mutation	SNP	G	G	A	rs559490967		TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr1:38261411G>A	ENST00000373045.6	+	2	934	c.553G>A	c.(553-555)Gtc>Atc	p.V185I	MANEAL_ENST00000525897.1_5'UTR|MANEAL_ENST00000329006.5_5'UTR|MANEAL_ENST00000397631.3_Missense_Mutation_p.V185I	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	185						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CGTCTCAGGCGTCCTGGTCCT	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		16438	0.0		0.0	False		,,,				2504	0.001					ENST00000373045.6																			0				endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7						c.(553-555)Gtc>Atc		mannosidase, endo-alpha-like							106.0	104.0	104.0					1																	38261411		2203	4300	6503	SO:0001583	missense	149175					Golgi membrane|integral to membrane	hydrolase activity	g.chr1:38261411G>A	AK055996	CCDS426.1, CCDS44110.1, CCDS44111.1	1p34.3	2008-02-05			ENSG00000185090	ENSG00000185090			26452	protein-coding gene	gene with protein product							Standard	NM_152496		Approved	FLJ31434	uc001cby.2	Q5VSG8	OTTHUMG00000004317	ENST00000373045.6:c.553G>A	1.37:g.38261411G>A	ENSP00000362136:p.Val185Ile					MANEAL_ENST00000397631.3_Missense_Mutation_p.V185I|MANEAL_ENST00000329006.5_5'UTR|MANEAL_ENST00000525897.1_5'UTR	p.V185I	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN			2	934	+	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	185					Q6DD86|Q6P497|Q8N5P8|Q96G55|Q96N42	Missense_Mutation	SNP	ENST00000373045.6	37	c.553G>A	CCDS44110.1	.	.	.	.	.	.	.	.	.	.	G	34	5.393922	0.96009	.	.	ENSG00000185090	ENST00000373045;ENST00000397631;ENST00000532512	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.83677	0.5306	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.993;0.995	T	0.82323	-0.0514	9	0.30078	T	0.28	-41.03	18.1688	0.89737	0.0:0.0:1.0:0.0	.	185;185	Q5VSG8;Q5VSG8-3	MANEL_HUMAN;.	I	185;185;85	.	ENSP00000362136:V185I	V	+	1	0	MANEAL	38033998	1.000000	0.71417	0.970000	0.41538	0.929000	0.56500	7.476000	0.81055	2.722000	0.93159	0.655000	0.94253	GTC		0.542	MANEAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012469.2	NM_152496		17	64	0	0	0	1	0	17	64				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		5	115	0	0	0	1	0	5	115				
FAM13C	220965	broad.mit.edu	37	10	61011334	61011334	+	Splice_Site	SNP	C	C	T	rs557303188		TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr10:61011334C>T	ENST00000373868.2	-	13	1722		c.e13+1		FAM13C_ENST00000373867.3_Splice_Site|FAM13C_ENST00000435852.2_Silent_p.R545R|FAM13C_ENST00000277705.6_Splice_Site|FAM13C_ENST00000468840.2_Splice_Site|FAM13C_ENST00000442566.3_Splice_Site|FAM13C_ENST00000419214.2_Splice_Site	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C											NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCGACACATACCTTCCTGTTT	0.378																																						ENST00000373867.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.e14+1		family with sequence similarity 13, member C							157.0	182.0	174.0					10																	61011334		2203	4300	6503	SO:0001630	splice_region_variant	220965							g.chr10:61011334C>T	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.1634+1G>A	10.37:g.61011334C>T						FAM13C_ENST00000442566.3_Splice_Site|FAM13C_ENST00000277705.6_Splice_Site|FAM13C_ENST00000419214.2_Splice_Site|FAM13C_ENST00000373868.2_Splice_Site|FAM13C_ENST00000435852.2_Silent_p.R545R|FAM13C_ENST00000468840.2_Splice_Site		NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN			14	1848	-								B7ZB77|Q5T631|Q6P2M3|Q99787	Splice_Site	SNP	ENST00000373868.2	37		CCDS7255.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.714604	0.68730	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.095	0.89487	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM13C	60681340	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	7.147000	0.77382	2.716000	0.92895	0.491000	0.48974	.		0.378	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2		Intron	6	149	0	0	0	1	0	6	149				
NCKAP1L	3071	broad.mit.edu	37	12	54914981	54914981	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr12:54914981G>A	ENST00000293373.6	+	18	1916	c.1837G>A	c.(1837-1839)Gtc>Atc	p.V613I	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.V563I	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	613					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CAGCAATTGCGTCCTGGAGAT	0.567																																						ENST00000293373.6																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						c.(1837-1839)Gtc>Atc		NCK-associated protein 1-like							144.0	127.0	133.0					12																	54914981		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54914981G>A	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.1837G>A	12.37:g.54914981G>A	ENSP00000293373:p.Val613Ile					NCKAP1L_ENST00000545638.2_Missense_Mutation_p.V563I	p.V613I	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN			18	1916	+			613					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.1837G>A	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	G	6.969	0.548796	0.13312	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.24723	1.84;1.84	5.14	4.25	0.50352	.	0.065198	0.64402	D	0.000011	T	0.12008	0.0292	N	0.11845	0.185	0.39733	D	0.971636	B	0.10296	0.003	B	0.08055	0.003	T	0.10086	-1.0645	10	0.02654	T	1	-16.2173	11.5517	0.50725	0.0878:0.0:0.9122:0.0	.	613	P55160	NCKPL_HUMAN	I	613;563	ENSP00000293373:V613I;ENSP00000445596:V563I	ENSP00000293373:V613I	V	+	1	0	NCKAP1L	53201248	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.866000	0.48420	1.304000	0.44892	0.484000	0.47621	GTC		0.567	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		3	48	0	0	0	1	0	3	48				
AKAP12	9590	broad.mit.edu	37	6	151671704	151671704	+	Silent	SNP	C	C	T			TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr6:151671704C>T	ENST00000253332.1	+	3	2367	c.2178C>T	c.(2176-2178)gaC>gaT	p.D726D	AKAP12_ENST00000359755.5_Silent_p.D621D|AKAP12_ENST00000402676.2_Silent_p.D726D|AKAP12_ENST00000354675.6_Silent_p.D628D			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	726					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CGGGGACAGACGGGATCCTTG	0.587																																					Melanoma(141;1616 1805 10049 24534 51979)	ENST00000402676.2																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68						c.(2176-2178)gaC>gaT		A kinase (PRKA) anchor protein 12							101.0	110.0	107.0					6																	151671704		2203	4300	6503	SO:0001819	synonymous_variant	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151671704C>T	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.2178C>T	6.37:g.151671704C>T						AKAP12_ENST00000253332.1_Silent_p.D726D|AKAP12_ENST00000354675.6_Silent_p.D628D|AKAP12_ENST00000359755.5_Silent_p.D621D	p.D726D	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	2418	+		Ovarian(120;0.125)	726					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Silent	SNP	ENST00000253332.1	37	c.2178C>T	CCDS5229.1																																																																																				0.587	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			19	90	0	0	0	1	0	19	90				
KDM6A	7403	broad.mit.edu	37	X	44938585	44938585	+	Nonsense_Mutation	SNP	G	G	T			TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chrX:44938585G>T	ENST00000377967.4	+	20	3174	c.3133G>T	c.(3133-3135)Gaa>Taa	p.E1045*	KDM6A_ENST00000382899.4_Nonsense_Mutation_p.E1052*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.E966*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.E1000*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1045	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CTCATTCCAGGAATCATTGAG	0.338			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"""D, N, F, S"""	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			"""renal, oesophageal SCC, MM"""		6	Whole gene deletion(6)	p.0?(6)	oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(3133-3135)Gaa>Taa		lysine (K)-specific demethylase 6A							107.0	87.0	94.0					X																	44938585		2203	4300	6503	SO:0001587	stop_gained	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44938585G>T	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3133G>T	X.37:g.44938585G>T	ENSP00000367203:p.Glu1045*					KDM6A_ENST00000536777.1_Nonsense_Mutation_p.E1000*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.E966*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.E1052*	p.E1045*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			20	3174	+			1045					Q52LL9|Q5JVQ7	Nonsense_Mutation	SNP	ENST00000377967.4	37	c.3133G>T	CCDS14265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.858852|7.858852	0.98528|0.98528	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216|ENST00000414389;ENST00000433797	.|.	.|.	.|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.043734|.	0.85682|.	D|.	0.000000|.	.|T	.|0.75803	.|0.3899	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74822	.|-0.3534	.|3	0.87932|.	D|.	0|.	-17.1392|-17.1392	18.6935|18.6935	0.91592|0.91592	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|V	742;1045;1000;1052;966|642;687	.|.	ENSP00000334340:E742X|.	E|G	+|+	1|2	0|0	KDM6A|KDM6A	44823529|44823529	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.476000|9.476000	0.97823|0.97823	2.359000|2.359000	0.80004|0.80004	0.594000|0.594000	0.82650|0.82650	GAA|GGA		0.338	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		10	17	1	0	9.70103e-10	1	1.10391e-09	10	17				
NCOA4	8031	broad.mit.edu	37	10	51584701	51584701	+	Nonsense_Mutation	SNP	C	C	G			TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr10:51584701C>G	ENST00000443446.1	+	8	1029	c.800C>G	c.(799-801)tCa>tGa	p.S267*	NCOA4_ENST00000430396.2_Nonsense_Mutation_p.S167*|NCOA4_ENST00000438493.1_Nonsense_Mutation_p.S283*|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000452682.1_Nonsense_Mutation_p.S283*|NCOA4_ENST00000374087.4_Nonsense_Mutation_p.S267*|NCOA4_ENST00000374082.1_Nonsense_Mutation_p.S267*|NCOA4_ENST00000344348.6_Nonsense_Mutation_p.S267*|NCOA4_ENST00000414907.2_Nonsense_Mutation_p.S101*	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	267					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						AGTGAAAAATCAAGTTATCAA	0.403			T	RET	papillary thyroid																																	ENST00000452682.1				Dom	yes		10	10q11.2	8031	T	nuclear receptor coactivator 4 - PTC3 (ELE1)			E	RET		papillary thyroid		0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						c.(847-849)tCa>tGa		nuclear receptor coactivator 4							70.0	73.0	72.0					10																	51584701		2203	4300	6503	SO:0001587	stop_gained	8031				androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	g.chr10:51584701C>G	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"""RET-activating gene ELE1"""	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.800C>G	10.37:g.51584701C>G	ENSP00000390713:p.Ser267*					NCOA4_ENST00000374082.1_Nonsense_Mutation_p.S267*|NCOA4_ENST00000443446.1_Nonsense_Mutation_p.S267*|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000344348.6_Nonsense_Mutation_p.S267*|NCOA4_ENST00000374087.4_Nonsense_Mutation_p.S267*|NCOA4_ENST00000414907.2_Nonsense_Mutation_p.S101*|NCOA4_ENST00000430396.2_Nonsense_Mutation_p.S167*|NCOA4_ENST00000438493.1_Nonsense_Mutation_p.S283*	p.S283*	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN			9	1100	+			267					A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Nonsense_Mutation	SNP	ENST00000443446.1	37	c.848C>G	CCDS7237.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.098643|4.098643	0.76870|0.76870	.|.	.|.	ENSG00000138293|ENSG00000138293	ENST00000431200|ENST00000438493;ENST00000452682;ENST00000430396;ENST00000374087;ENST00000414907;ENST00000344348;ENST00000374082;ENST00000443446	.|.	.|.	.|.	6.03|6.03	3.01|3.01	0.34805|0.34805	.|.	.|0.540509	.|0.21291	.|N	.|0.076974	T|.	0.41650|.	0.1168|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.50717|.	-0.8795|.	3|.	.|0.26408	.|T	.|0.33	-18.5738|-18.5738	8.2799|8.2799	0.31894|0.31894	0.0:0.6721:0.1278:0.2001|0.0:0.6721:0.1278:0.2001	.|.	.|.	.|.	.|.	M|X	182|283;283;167;267;101;267;267;267	.|.	.|ENSP00000344552:S267X	I|S	+|+	3|2	3|0	NCOA4|NCOA4	51254707|51254707	0.002000|0.002000	0.14202|0.14202	0.991000|0.991000	0.47740|0.47740	0.985000|0.985000	0.73830|0.73830	1.171000|1.171000	0.31896|0.31896	0.893000|0.893000	0.36288|0.36288	0.655000|0.655000	0.94253|0.94253	ATC|TCA		0.403	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		13	119	0	0	0	1	0	13	119				
RIC3	79608	broad.mit.edu	37	11	8159870	8159870	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr11:8159870C>T	ENST00000309737.6	-	3	375	c.376G>A	c.(376-378)Gag>Aag	p.E126K	RIC3_ENST00000335425.7_Intron|RIC3_ENST00000425599.2_Missense_Mutation_p.E126K|RIC3_ENST00000539720.1_Missense_Mutation_p.E77K|RIC3_ENST00000343202.4_Missense_Mutation_p.E126K|RIC3_ENST00000530060.1_5'UTR			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	126					cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		TTCCCATCCTCTGCAGTTGTT	0.438																																						ENST00000343202.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17						c.(376-378)Gag>Aag		RIC3 acetylcholine receptor chaperone							251.0	242.0	245.0					11																	8159870		2201	4296	6497	SO:0001583	missense	79608					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:8159870C>T		CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"""resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"""			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.376G>A	11.37:g.8159870C>T	ENSP00000308820:p.Glu126Lys					RIC3_ENST00000309737.6_Missense_Mutation_p.E126K|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000539720.1_Missense_Mutation_p.E77K|RIC3_ENST00000425599.2_Missense_Mutation_p.E126K	p.E126K	NM_001206671.2|NM_024557.4	NP_001193600.1|NP_078833.3	Q7Z5B4	RIC3_HUMAN		Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)	3	441	-			126					B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	Missense_Mutation	SNP	ENST00000309737.6	37	c.376G>A	CCDS55742.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890508	0.52014	.	.	ENSG00000166405	ENST00000343202;ENST00000309737;ENST00000543346;ENST00000539720;ENST00000425599;ENST00000531450	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	5.64	5.64	0.86602	.	0.234249	0.37178	N	0.002210	T	0.31575	0.0801	M	0.62723	1.935	0.80722	D	1	P;P;B;B	0.46859	0.723;0.885;0.328;0.328	B;P;B;B	0.44946	0.251;0.465;0.124;0.124	T	0.09707	-1.0662	10	0.06757	T	0.87	.	12.2355	0.54514	0.0:0.9219:0.0:0.0781	.	126;126;126;126	B7Z1U4;B0B1U0;Q7Z5B4;Q7Z5B4-5	.;.;RIC3_HUMAN;.	K	126;126;126;77;126;126	ENSP00000344904:E126K;ENSP00000308820:E126K;ENSP00000443871:E77K;ENSP00000395320:E126K;ENSP00000431658:E126K	ENSP00000308820:E126K	E	-	1	0	RIC3	8116446	0.361000	0.24972	0.999000	0.59377	0.998000	0.95712	2.532000	0.45659	2.651000	0.90000	0.609000	0.83330	GAG		0.438	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385900.1	NM_024557		38	159	0	0	0	1	0	38	159				
DAAM1	23002	broad.mit.edu	37	14	59730213	59730213	+	Missense_Mutation	SNP	A	A	C			TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr14:59730213A>C	ENST00000395125.1	+	1	41	c.18A>C	c.(16-18)agA>agC	p.R6S	DAAM1_ENST00000351081.1_Missense_Mutation_p.R6S|DAAM1_ENST00000556135.1_Missense_Mutation_p.R6S|DAAM1_ENST00000360909.3_Missense_Mutation_p.R6S	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	6					actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CAAGAAAGAGAGGTGGACGAG	0.413																																						ENST00000395125.1																			0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(16-18)agA>agC		dishevelled associated activator of morphogenesis 1							127.0	121.0	123.0					14																	59730213		2203	4300	6503	SO:0001583	missense	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59730213A>C	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.18A>C	14.37:g.59730213A>C	ENSP00000378557:p.Arg6Ser					DAAM1_ENST00000556135.1_Missense_Mutation_p.R6S|DAAM1_ENST00000351081.1_Missense_Mutation_p.R6S|DAAM1_ENST00000360909.3_Missense_Mutation_p.R6S	p.R6S	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	1	41	+			6					Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	c.18A>C	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.844114	0.51164	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000556135;ENST00000395125	T;T;T	0.79940	-1.32;-1.31;-1.31	5.68	3.36	0.38483	.	0.000000	0.85682	D	0.000000	D	0.84302	0.5442	L	0.54323	1.7	0.58432	D	0.999999	D;D;D	0.76494	0.981;0.967;0.999	D;P;D	0.80764	0.943;0.879;0.994	T	0.81152	-0.1063	10	0.46703	T	0.11	.	7.1471	0.25589	0.6218:0.0:0.3782:0.0	.	6;6;6	Q9Y4D1-2;Q9Y4D1;A8K6X5	.;DAAM1_HUMAN;.	S	6	ENSP00000354162:R6S;ENSP00000247170:R6S;ENSP00000378557:R6S	ENSP00000247170:R6S	R	+	3	2	DAAM1	58799966	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.681000	0.37618	0.442000	0.26555	-0.256000	0.11100	AGA		0.413	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		9	36	0	0	0	1	0	9	36				
NCOA4	8031	broad.mit.edu	37	10	51584630	51584630	+	Silent	SNP	C	C	G			TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr10:51584630C>G	ENST00000443446.1	+	8	958	c.729C>G	c.(727-729)gcC>gcG	p.A243A	NCOA4_ENST00000430396.2_Silent_p.A143A|NCOA4_ENST00000438493.1_Silent_p.A259A|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000452682.1_Silent_p.A259A|NCOA4_ENST00000374087.4_Silent_p.A243A|NCOA4_ENST00000374082.1_Silent_p.A243A|NCOA4_ENST00000344348.6_Silent_p.A243A|NCOA4_ENST00000414907.2_Silent_p.A77A	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	243					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						CTTCCAGAGCCTGCAATTTCT	0.383			T	RET	papillary thyroid																																	ENST00000452682.1				Dom	yes		10	10q11.2	8031	T	nuclear receptor coactivator 4 - PTC3 (ELE1)			E	RET		papillary thyroid		0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						c.(775-777)gcC>gcG		nuclear receptor coactivator 4							51.0	55.0	54.0					10																	51584630		2203	4300	6503	SO:0001819	synonymous_variant	8031				androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	g.chr10:51584630C>G	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"""RET-activating gene ELE1"""	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.729C>G	10.37:g.51584630C>G						NCOA4_ENST00000374082.1_Silent_p.A243A|NCOA4_ENST00000443446.1_Silent_p.A243A|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000344348.6_Silent_p.A243A|NCOA4_ENST00000374087.4_Silent_p.A243A|NCOA4_ENST00000414907.2_Silent_p.A77A|NCOA4_ENST00000430396.2_Silent_p.A143A|NCOA4_ENST00000438493.1_Silent_p.A259A	p.A259A	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN			9	1029	+			243					A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Silent	SNP	ENST00000443446.1	37	c.777C>G	CCDS7237.1	.	.	.	.	.	.	.	.	.	.	C	0.329	-0.957073	0.02267	.	.	ENSG00000138293	ENST00000431200	.	.	.	6.03	4.16	0.48862	.	.	.	.	.	T	0.37293	0.0998	.	.	.	0.19945	N	0.999948	.	.	.	.	.	.	T	0.20638	-1.0269	4	.	.	.	-16.3573	9.3449	0.38102	0.0:0.652:0.2759:0.0721	.	.	.	.	V	159	.	.	L	+	1	2	NCOA4	51254636	0.278000	0.24230	0.024000	0.17045	0.354000	0.29330	0.226000	0.17776	1.536000	0.49237	0.655000	0.94253	CTG		0.383	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		9	92	0	0	0	1	0	9	92				
PRPS1L1	221823	broad.mit.edu	37	7	18067087	18067087	+	Missense_Mutation	SNP	T	T	C	rs376402121		TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr7:18067087T>C	ENST00000506618.2	-	1	399	c.319A>G	c.(319-321)Atc>Gtc	p.I107V		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	107					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TTGGCAGAGATTGGGGACCGG	0.463																																						ENST00000506618.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18						c.(319-321)Atc>Gtc		phosphoribosyl pyrophosphate synthetase 1-like 1		T	VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	145.0	148.0	147.0		319	4.5	0.5	7		147	0,8600		0,0,4300	no	missense	PRPS1L1	NM_175886.2	29	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign	107/319	18067087	1,13005	2203	4300	6503	SO:0001583	missense	221823				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chr7:18067087T>C	M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.319A>G	7.37:g.18067087T>C	ENSP00000424595:p.Ile107Val						p.I107V	NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN			1	399	-	Lung NSC(10;0.0385)|all_lung(11;0.0736)		107					Q6P5P6	Missense_Mutation	SNP	ENST00000506618.2	37	c.319A>G	CCDS47552.1	.	.	.	.	.	.	.	.	.	.	T	15.27	2.784786	0.49997	2.27E-4	0.0	ENSG00000229937	ENST00000506618	D	0.92699	-3.09	4.47	4.47	0.54385	.	.	.	.	.	D	0.94182	0.8133	M	0.73962	2.25	.	.	.	B	0.28055	0.199	P	0.46275	0.51	D	0.96505	0.9374	8	0.87932	D	0	.	12.0361	0.53425	0.0:0.0:0.0:1.0	.	107	P21108	PRPS3_HUMAN	V	107	ENSP00000424595:I107V	ENSP00000424595:I107V	I	-	1	0	PRPS1L1	18033612	1.000000	0.71417	0.454000	0.27019	0.835000	0.47333	5.212000	0.65225	2.014000	0.59158	0.528000	0.53228	ATC		0.463	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	NM_175886		4	118	0	0	0	1	0	4	118				
ZC3H12B	340554	broad.mit.edu	37	X	64722774	64722774	+	Silent	SNP	G	G	A			TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chrX:64722774G>A	ENST00000338957.4	+	5	2263	c.2196G>A	c.(2194-2196)ccG>ccA	p.P732P	ZC3H12B_ENST00000423889.3_Silent_p.P721P	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	732							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCTGGGACCCGCTGCCCTGTA	0.577																																						ENST00000338957.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2194-2196)ccG>ccA		zinc finger CCCH-type containing 12B							53.0	55.0	54.0					X																	64722774		2192	4285	6477	SO:0001819	synonymous_variant	340554						endonuclease activity|nucleic acid binding|zinc ion binding	g.chrX:64722774G>A	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.2196G>A	X.37:g.64722774G>A						ZC3H12B_ENST00000423889.3_Silent_p.P721P	p.P732P	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN			5	2263	+			721					B2RTQ3|E9PAJ6|Q5H9C0	Silent	SNP	ENST00000338957.4	37	c.2196G>A	CCDS48131.2																																																																																				0.577	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	XM_293334		3	22	0	0	0	1	0	3	22				
BMS1P20	96610	broad.mit.edu	37	22	22661362	22661362	+	RNA	SNP	C	C	T			TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr22:22661362C>T	ENST00000426066.1	+	0	360					NR_027293.1				BMS1 pseudogene 20																		TGGGCAACAGCGAGGGAAATG	0.502																																						ENST00000426066.1																			0																																																			0							g.chr22:22661362C>T			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661362C>T								NR_027293.1						0	360	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.502	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	37	0	0	0	1	0	3	37				
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C	rs200164543		TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	95								p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378																																						ENST00000278882.3																			4	Substitution - coding silent(4)	p.G95G(4)	urinary_tract(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(283-285)ggG>ggC																																						SO:0001819	synonymous_variant	0							g.chr20:29628283G>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.285G>C	20.37:g.29628283G>C						FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G	p.G95G							6	665	+								C4AME5	Silent	SNP	ENST00000278882.3	37	c.285G>C																																																																																					0.378	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	99	0	0	0	1	0	5	99				
EML3	256364	broad.mit.edu	37	11	62375178	62375178	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr11:62375178G>A	ENST00000394773.2	-	11	1629	c.1322C>T	c.(1321-1323)cCt>cTt	p.P441L	EML3_ENST00000531557.1_Missense_Mutation_p.P224L|EML3_ENST00000494176.2_Missense_Mutation_p.P413L|EML3_ENST00000529309.1_Missense_Mutation_p.P441L|EML3_ENST00000438258.1_Intron|RP11-831H9.3_ENST00000532626.1_RNA|EML3_ENST00000278845.4_Missense_Mutation_p.P442L	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	441						cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CCCATTCCCAGGAACCCCTAC	0.577																																						ENST00000394773.2																			0				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1321-1323)cCt>cTt		echinoderm microtubule associated protein like 3							114.0	105.0	108.0					11																	62375178		2202	4299	6501	SO:0001583	missense	256364					cytoplasm|microtubule	protein binding	g.chr11:62375178G>A	AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"""WD repeat domain containing"""	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.1322C>T	11.37:g.62375178G>A	ENSP00000378254:p.Pro441Leu					EML3_ENST00000531557.1_Missense_Mutation_p.P224L|EML3_ENST00000529309.1_Missense_Mutation_p.P441L|EML3_ENST00000278845.4_Missense_Mutation_p.P442L|EML3_ENST00000494176.2_Missense_Mutation_p.P413L|EML3_ENST00000438258.1_Intron	p.P441L	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN			11	1629	-			441					Q6ZQW7|Q8NA55	Missense_Mutation	SNP	ENST00000394773.2	37	c.1322C>T	CCDS8023.2	.	.	.	.	.	.	.	.	.	.	G	10.20	1.285282	0.23478	.	.	ENSG00000149499	ENST00000394773;ENST00000278845;ENST00000531557;ENST00000494176;ENST00000529309	T;T;T;T;T	0.38722	1.12;1.12;1.53;1.68;1.67	5.2	2.97	0.34412	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	1.080920	0.07173	N	0.852779	T	0.25005	0.0607	N	0.14661	0.345	0.19300	N	0.999977	B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.003;0.001;0.001;0.001;0.003	T	0.13361	-1.0512	10	0.08179	T	0.78	-0.4249	10.0454	0.42184	0.1971:0.0:0.8029:0.0	.	441;441;224;442;413	Q32P44-2;Q32P44;G3V195;B7WPE2;G3V1D0	.;EMAL3_HUMAN;.;.;.	L	441;442;224;413;441	ENSP00000378254:P441L;ENSP00000278845:P442L;ENSP00000433417:P224L;ENSP00000435064:P413L;ENSP00000434513:P441L	ENSP00000278845:P442L	P	-	2	0	EML3	62131754	0.995000	0.38212	0.818000	0.32626	0.612000	0.37316	1.618000	0.36954	1.208000	0.43306	0.460000	0.39030	CCT		0.577	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	NM_153265		5	84	0	0	0	1	0	5	84				
ANO4	121601	broad.mit.edu	37	12	101436230	101436230	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr12:101436230G>T	ENST00000392977.3	+	12	1348	c.1138G>T	c.(1138-1140)Gat>Tat	p.D380Y	ANO4_ENST00000392979.3_Missense_Mutation_p.D345Y|ANO4_ENST00000299222.9_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	380					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CACCACTCTGGATCACAGCCA	0.488										HNSCC(74;0.22)																												ENST00000392979.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(1033-1035)Gat>Tat		anoctamin 4							162.0	145.0	151.0					12																	101436230		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101436230G>T	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.1138G>T	12.37:g.101436230G>T	ENSP00000376703:p.Asp380Tyr	HNSCC(74;0.22)				ANO4_ENST00000392977.3_Missense_Mutation_p.D380Y|ANO4_ENST00000299222.9_5'UTR	p.D345Y	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN			11	1394	+			380					Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.1033G>T		.	.	.	.	.	.	.	.	.	.	G	20.3	3.961255	0.74016	.	.	ENSG00000151572	ENST00000392979;ENST00000392977	T;T	0.70282	-0.47;-0.47	5.85	5.85	0.93711	.	0.117629	0.56097	D	0.000025	T	0.73999	0.3659	L	0.51853	1.615	0.80722	D	1	B;P	0.36048	0.389;0.534	P;P	0.48552	0.553;0.581	T	0.75448	-0.3314	10	0.87932	D	0	.	11.1317	0.48351	0.1105:0.0:0.8895:0.0	.	380;345	Q32M45;Q32M45-2	ANO4_HUMAN;.	Y	345;380	ENSP00000376705:D345Y;ENSP00000376703:D380Y	ENSP00000376703:D380Y	D	+	1	0	ANO4	99960361	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.504000	0.66968	2.761000	0.94854	0.655000	0.94253	GAT		0.488	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		12	93	1	0	2.32078e-09	1	2.55286e-09	12	93				
LINC00969	440993	broad.mit.edu	37	3	195400795	195400795	+	lincRNA	SNP	C	C	T	rs7615357	byFrequency	TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr3:195400795C>T	ENST00000445430.1	+	0	1391									long intergenic non-protein coding RNA 969																		GGGGCAAACTCGCTGTTGGAC	0.592																																						ENST00000445430.1																			0																																																			0							g.chr3:195400795C>T	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400795C>T														0	1391	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.592	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	39	0	0	0	1	0	4	39				
FRYL	285527	broad.mit.edu	37	4	48567706	48567706	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr4:48567706G>A	ENST00000503238.1	-	26	3171	c.3172C>T	c.(3172-3174)Cac>Tac	p.H1058Y	FRYL_ENST00000507711.1_Missense_Mutation_p.H1058Y|FRYL_ENST00000358350.4_Missense_Mutation_p.H1058Y|FRYL_ENST00000537810.1_Missense_Mutation_p.H1058Y|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	1058					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTTCTCTGGTGCACTGTGAAT	0.338																																						ENST00000537810.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(3172-3174)Cac>Tac		FRY-like							81.0	75.0	77.0					4																	48567706		1836	4084	5920	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48567706G>A	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.3172C>T	4.37:g.48567706G>A	ENSP00000426064:p.His1058Tyr					FRYL_ENST00000503238.1_Missense_Mutation_p.H1058Y|FRYL_ENST00000507711.1_Missense_Mutation_p.H1058Y|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.H1058Y	p.H1058Y			O94915	FRYL_HUMAN			29	3776	-			1058					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.3172C>T	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783145	0.70222	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	T;T;T;T	0.04758	3.56;3.56;3.56;3.56	6.08	6.08	0.98989	Armadillo-type fold (1);	0.130932	0.51477	U	0.000100	T	0.06188	0.0160	N	0.22421	0.69	0.80722	D	1	P;P	0.43662	0.566;0.814	B;B	0.40410	0.209;0.328	T	0.36432	-0.9748	10	0.51188	T	0.08	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	1058;1058	F2Z2S2;O94915	.;FRYL_HUMAN	Y	1058	ENSP00000426064:H1058Y;ENSP00000351113:H1058Y;ENSP00000441114:H1058Y;ENSP00000421584:H1058Y	ENSP00000351113:H1058Y	H	-	1	0	FRYL	48262463	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	5.458000	0.66679	2.894000	0.99253	0.591000	0.81541	CAC		0.338	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			5	42	0	0	0	1	0	5	42				
CAD	790	broad.mit.edu	37	2	27445189	27445189	+	Silent	SNP	A	A	G			TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr2:27445189A>G	ENST00000403525.1	+	4	624	c.480A>G	c.(478-480)ccA>ccG	p.P160P	CAD_ENST00000264705.4_Silent_p.P160P			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCTGGTACCAGAGGTCTCCA	0.542																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(478-480)ccA>ccG		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						57.0	61.0	60.0					2																	27445189		2203	4300	6503	SO:0001819	synonymous_variant	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27445189A>G	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.480A>G	2.37:g.27445189A>G						CAD_ENST00000403525.1_Silent_p.P160P	p.P160P	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			4	642	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		160			GATase (Glutamine amidotransferase).		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	ENST00000403525.1	37	c.480A>G																																																																																					0.542	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			10	53	0	0	0	1	0	10	53				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	43	0	0	0	1	0	3	43				
ASH1L	55870	broad.mit.edu	37	1	155349888	155349889	+	Frame_Shift_Ins	INS	-	-	T			TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr1:155349888_155349889insT	ENST00000368346.3	-	8	6776_6777	c.6137_6138insA	c.(6136-6138)aagfs	p.K2046fs	ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.K2041fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2046					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AGTCAATTCTCTTTTGTCTTAG	0.347																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(6136-6138)aagfs		ash1 (absent, small, or homeotic)-like (Drosophila)																																				SO:0001589	frameshift_variant	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155349888_155349889insT	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.6138dupA	1.37:g.155349892_155349892dupT	ENSP00000357330:p.Lys2046fs					ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.K2041fs	p.K2046fs			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		8	6776_6777	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		2046					Q59GP1|Q5T714|Q5T715|Q9P2C7	Frame_Shift_Ins	INS	ENST00000368346.3	37	c.6137_6138insA																																																																																					0.347	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		11	74						11	74	---	---	---	---
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000442996.1																			0																																																			0							g.chr2:175585079delA																													2.37:g.175585079delA			OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1924									0	217	+									RNA	DEL	ENST00000442996.1	37																																																																																						0.368	AC018890.6-002	KNOWN	basic	antisense	antisense	OTTHUMT00000334128.1			6	10						6	10	---	---	---	---
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977389	29977393	+	RNA	DEL	CTTCT	CTTCT	-			TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr6:29977389_29977393delCTTCT	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		AGAACCCTGACTTCTCTTTCTGCAA	0.488																																						ENST00000376797.3																			0																																																			0							g.chr6:29977389_29977393delCTTCT	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977389_29977393delCTTCT						ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA								0	731	-									RNA	DEL	ENST00000376797.3	37																																																																																						0.488	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		7	24						7	24	---	---	---	---
RP11-274B21.1	0	broad.mit.edu	37	7	128210234	128210235	+	RNA	INS	-	-	TT	rs577759783|rs57917869	byFrequency	TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr7:128210234_128210235insTT	ENST00000605862.1	+	0	189																											agttttagttcttTTTTTTTTT	0.441																																						ENST00000605862.1																			0																																																			0							g.chr7:128210234_128210235insTT																													7.37:g.128210243_128210244dupTT														0	189	+									RNA	INS	ENST00000605862.1	37																																																																																						0.441	RP11-274B21.1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000468355.1			3	4						3	4	---	---	---	---
CCDC183	84960	broad.mit.edu	37	9	139700688	139700688	+	Frame_Shift_Del	DEL	C	C	-			TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr9:139700688delC	ENST00000338005.6	+	10	1142	c.1107delC	c.(1105-1107)atcfs	p.I369fs	RP11-216L13.18_ENST00000471502.1_RNA|RABL6_ENST00000311502.7_5'Flank|RABL6_ENST00000357466.2_5'Flank|RABL6_ENST00000371663.4_5'Flank|KIAA1984-AS1_ENST00000414656.1_RNA|KIAA1984_ENST00000371682.3_3'UTR|RABL6_ENST00000371671.4_5'Flank|RP11-216L13.19_ENST00000415992.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		369										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		CTAGCTCCATCAGGTGCCCCG	0.672																																						ENST00000338005.6																			0				biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13						c.(1105-1107)atfs		KIAA1984							19.0	25.0	23.0					9																	139700688		1952	4150	6102	SO:0001589	frameshift_variant	84960							g.chr9:139700688delC																												ENST00000338005.6:c.1107delC	9.37:g.139700688delC	ENSP00000338013:p.Ile369fs					KIAA1984_ENST00000371682.3_3'UTR|KIAA1984-AS1_ENST00000414656.1_RNA	p.I369fs	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)	10	1142	+	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)	369					B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Frame_Shift_Del	DEL	ENST00000338005.6	37	c.1107delC	CCDS43906.1																																																																																				0.672	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354899.1			2	4						2	4	---	---	---	---
TRPV1	7442	broad.mit.edu	37	17	3491535	3491535	+	Frame_Shift_Del	DEL	A	A	-			TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr17:3491535delA	ENST00000571088.1	-	7	1384	c.1171delT	c.(1171-1173)tgcfs	p.C391fs	TRPV1_ENST00000174621.6_Frame_Shift_Del_p.C389fs|TRPV1_ENST00000399759.3_Frame_Shift_Del_p.C391fs|TRPV1_ENST00000399756.4_Frame_Shift_Del_p.C391fs|SHPK_ENST00000572705.1_Frame_Shift_Del_p.C391fs|TRPV1_ENST00000425167.2_Frame_Shift_Del_p.C402fs|TRPV1_ENST00000576351.1_Frame_Shift_Del_p.C391fs|TRPV1_ENST00000310522.5_Intron	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	391					calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	TTCTTCTCGCAGGTGTCGATG	0.657																																					Melanoma(38;962 1762 15789)	ENST00000174621.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(1165-1167)gcfs		transient receptor potential cation channel, subfamily V, member 1	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)						28.0	34.0	32.0					17																	3491535		2097	4234	6331	SO:0001589	frameshift_variant	7442				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding	g.chr17:3491535delA	AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12716	protein-coding gene	gene with protein product		602076	"""vanilloid receptor subtype 1"""	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.1171delT	17.37:g.3491535delA	ENSP00000461007:p.Cys391fs					TRPV1_ENST00000310522.5_Intron|SHPK_ENST00000572705.1_Frame_Shift_Del_p.C391fs|TRPV1_ENST00000576351.1_Frame_Shift_Del_p.C391fs|TRPV1_ENST00000399756.4_Frame_Shift_Del_p.C391fs|TRPV1_ENST00000399759.3_Frame_Shift_Del_p.C391fs|TRPV1_ENST00000571088.1_Frame_Shift_Del_p.C391fs|TRPV1_ENST00000425167.2_Frame_Shift_Del_p.C402fs	p.C389fs			Q8NER1	TRPV1_HUMAN		Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	6	1454	-			391					A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Frame_Shift_Del	DEL	ENST00000571088.1	37	c.1165delT	CCDS45576.1																																																																																				0.657	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1	NM_018727		2	4						2	4	---	---	---	---
KRT16P6	353194	broad.mit.edu	37	17	16722880	16722881	+	RNA	DEL	AG	AG	-			TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr17:16722880_16722881delAG	ENST00000417510.1	-	0	932_933																											GGTCCACACCAGGTGCATCGTC	0.554																																						ENST00000417510.1																			0																																																			0							g.chr17:16722880_16722881delAG																													17.37:g.16722880_16722881delAG														0	932_933	-									RNA	DEL	ENST00000417510.1	37																																																																																						0.554	AC022596.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000131123.1			12	29						12	29	---	---	---	---
AC008132.13	0	broad.mit.edu	37	22	18842473	18842473	+	Intron	DEL	G	G	-	rs66480106	byFrequency	TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr22:18842473delG	ENST00000412938.1	+	4	2208																											AGCTGCTGGTGGGGAGGTCTT	0.647													?|GGGG|GGG|unsure	2225	0.444289	0.2716	0.4467	5008	,	,		25744	0.5079		0.5099	False		,,,				2504	0.5429					ENST00000412938.1																			0																																																	SO:0001627	intron_variant	0							g.chr22:18842473delG																												ENST00000412938.1:c.2209-830G>-	22.37:g.18842473delG														0	2208	+									RNA	DEL	ENST00000412938.1	37																																																																																						0.647	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			6	4						6	4	---	---	---	---
RANGAP1	5905	broad.mit.edu	37	22	41650469	41650471	+	In_Frame_Del	DEL	TCC	TCC	-	rs556869373		TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr22:41650469_41650471delTCC	ENST00000455915.2	-	10	2570_2572	c.1101_1103delGGA	c.(1099-1104)gaggaa>gaa	p.367_368EE>E	RANGAP1_ENST00000356244.3_In_Frame_Del_p.367_368EE>E|RANGAP1_ENST00000407260.4_In_Frame_Del_p.312_313EE>E|RANGAP1_ENST00000405486.1_In_Frame_Del_p.367_368EE>E			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	367	Asp/Glu-rich (highly acidic).				mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ctcttctccttcctcctcctcct	0.562																																						ENST00000455915.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1099-1104)gaa>ga		Ran GTPase activating protein 1																																				SO:0001651	inframe_deletion	5905				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	g.chr22:41650469_41650471delTCC	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.1101_1103delGGA	22.37:g.41650478_41650480delTCC	ENSP00000401470:p.Glu368del					RANGAP1_ENST00000405486.1_In_Frame_Del_p.EE367del|RANGAP1_ENST00000356244.3_In_Frame_Del_p.EE367del|RANGAP1_ENST00000407260.4_In_Frame_Del_p.EE312del	p.EE367del			P46060	RAGP1_HUMAN			10	2570_2572	-			367			Asp/Glu-rich (highly acidic).		Q96JJ2	In_Frame_Del	DEL	ENST00000455915.2	37	c.1101_1103delGGA	CCDS14012.1																																																																																				0.562	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	NM_002883		8	103						8	103	---	---	---	---
