#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
IGHV1-45	28466	broad.mit.edu	37	14	106963045	106963045	+	RNA	SNP	G	G	A	rs191537967	byFrequency	TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr14:106963045G>A	ENST00000390621.2	-	0	294									immunoglobulin heavy variable 1-45																		ATTTCTGTGCGTAGTTGGTGT	0.547													A|||	3	0.000599042	0.0008	0.0014	5008	,	,		17697	0.001		0.0	False		,,,				2504	0.0					ENST00000390621.2																			0															G		4,4094		0,4,2045	184.0	184.0	184.0			-2.9	0.0	14		184	1,8393		0,1,4196	no	intergenic				0,5,6241	AA,AG,GG		0.0119,0.0976,0.04			106963045	5,12487	2049	4197	6246			28466							g.chr14:106963045G>A	X92209		14q32.33	2012-02-08			ENSG00000211961	ENSG00000211961		"""Immunoglobulins / IGH locus"""	5553	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152075		14.37:g.106963045G>A														0	294	-									RNA	SNP	ENST00000390621.2	37																																																																																						0.547	IGHV1-45-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325169.1	NG_001019		74	115	0	0	0	1	0	74	115				
FAM47A	158724	broad.mit.edu	37	X	34149314	34149314	+	Missense_Mutation	SNP	C	C	T	rs374052739		TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chrX:34149314C>T	ENST00000346193.3	-	1	1133	c.1082G>A	c.(1081-1083)cGt>cAt	p.R361H		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	361								p.R361H(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TAGGCGGAGACGGGACACTCC	0.647																																						ENST00000346193.3																			1	Substitution - Missense(1)	p.R361H(1)	urinary_tract(1)	NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(1081-1083)cGt>cAt		family with sequence similarity 47, member A		T	HIS/ARG	2,3823		0,2,0,1625,571	29.0	31.0	30.0		1082	0.2	0.0	X		30	1,6723		0,0,1,2427,1869	no	missense	FAM47A	NM_203408.3	29	0,2,1,4052,2440	TT,TC,T,CC,C		0.0149,0.0523,0.0284	benign	361/792	34149314	3,10546	2198	4297	6495	SO:0001583	missense	158724							g.chrX:34149314C>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1082G>A	X.37:g.34149314C>T	ENSP00000345029:p.Arg361His						p.R361H	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	1133	-			361					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.1082G>A	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	c	0.009	-1.829422	0.00584	5.23E-4	1.49E-4	ENSG00000185448	ENST00000346193	T	0.09538	2.97	0.226	0.226	0.15353	.	.	.	.	.	T	0.02083	0.0065	N	0.00230	-1.795	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42103	-0.9471	8	0.38643	T	0.18	.	.	.	.	.	361	Q5JRC9	FA47A_HUMAN	H	361	ENSP00000345029:R361H	ENSP00000345029:R361H	R	-	2	0	FAM47A	34059235	0.024000	0.19004	0.006000	0.13384	0.006000	0.05464	-1.385000	0.02540	-0.914000	0.03827	-0.947000	0.02670	CGT		0.647	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		4	69	0	0	0	1	0	4	69				
SLC5A1	6523	broad.mit.edu	37	22	32480635	32480635	+	Missense_Mutation	SNP	T	T	A			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr22:32480635T>A	ENST00000266088.4	+	8	1124	c.874T>A	c.(874-876)Tgc>Agc	p.C292S	SLC5A1_ENST00000543737.1_Missense_Mutation_p.C165S	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	292					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	GTGGTACTGGTGCACAGATCA	0.567																																						ENST00000266088.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						c.(874-876)Tgc>Agc		solute carrier family 5 (sodium/glucose cotransporter), member 1							76.0	74.0	75.0					22																	32480635		2203	4300	6503	SO:0001583	missense	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32480635T>A		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.874T>A	22.37:g.32480635T>A	ENSP00000266088:p.Cys292Ser					SLC5A1_ENST00000543737.1_Missense_Mutation_p.C165S	p.C292S	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN			8	1124	+			292					B2R7E2|B7Z4Q9|B7ZA69	Missense_Mutation	SNP	ENST00000266088.4	37	c.874T>A	CCDS13902.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.297952	0.81025	.	.	ENSG00000100170	ENST00000266088;ENST00000543737	D;D	0.90069	-2.26;-2.61	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	D	0.94476	0.8222	M	0.89534	3.04	0.80722	D	1	D	0.55605	0.972	P	0.60415	0.874	D	0.95480	0.8559	10	0.87932	D	0	.	14.0254	0.64582	0.0:0.0:0.0:1.0	.	292	P13866	SC5A1_HUMAN	S	292;165	ENSP00000266088:C292S;ENSP00000444898:C165S	ENSP00000266088:C292S	C	+	1	0	SLC5A1	30810635	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	7.814000	0.86154	1.968000	0.57251	0.402000	0.26972	TGC		0.567	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		3	39	0	0	0	1	0	3	39				
ATP8A1	10396	broad.mit.edu	37	4	42629113	42629113	+	Silent	SNP	T	T	A			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr4:42629113T>A	ENST00000381668.5	-	2	294	c.63A>T	c.(61-63)acA>acT	p.T21T	ATP8A1_ENST00000264449.10_Silent_p.T21T|ATP8A1_ENST00000510289.1_Silent_p.T21T	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	21					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	AAACATCATCTGTCTTCTCAT	0.368																																						ENST00000381668.5																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(61-63)acA>acT		ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	Phosphatidylserine(DB00144)						103.0	99.0	100.0					4																	42629113		2203	4300	6503	SO:0001819	synonymous_variant	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42629113T>A	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.63A>T	4.37:g.42629113T>A						ATP8A1_ENST00000510289.1_Silent_p.T21T|ATP8A1_ENST00000264449.10_Silent_p.T21T	p.T21T	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN			2	294	-			21					Q32M35|Q32M36|Q4W5J7|Q4W5P2	Silent	SNP	ENST00000381668.5	37	c.63A>T	CCDS3466.1																																																																																				0.368	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		3	33	0	0	0	1	0	3	33				
CYP2B6	1555	broad.mit.edu	37	19	41516036	41516036	+	Silent	SNP	T	T	C			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr19:41516036T>C	ENST00000324071.4	+	6	967	c.960T>C	c.(958-960)gtT>gtC	p.V320V	CYP2B6_ENST00000593831.1_Intron|CYP2B6_ENST00000330446.5_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	320					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	ACCCTCATGTTGCAGGTGGGC	0.572																																						ENST00000324071.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(958-960)gtT>gtC		cytochrome P450, family 2, subfamily B, polypeptide 6	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						77.0	61.0	66.0					19																	41516036		2203	4300	6503	SO:0001819	synonymous_variant	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41516036T>C	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.960T>C	19.37:g.41516036T>C						CYP2B6_ENST00000593831.1_Intron|CYP2B6_ENST00000330446.5_Intron	p.V320V	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		6	967	+			320					B4DWP3|Q2V565|Q9UK46	Silent	SNP	ENST00000324071.4	37	c.960T>C	CCDS12570.1																																																																																				0.572	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		8	52	0	0	0	1	0	8	52				
ENOX2	10495	broad.mit.edu	37	X	129803980	129803980	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chrX:129803980T>G	ENST00000370927.1	-	5	761	c.740A>C	c.(739-741)tAt>tCt	p.Y247S	ENOX2_ENST00000338144.3_Missense_Mutation_p.Y247S|ENOX2_ENST00000370935.1_Missense_Mutation_p.Y218S|ENOX2_ENST00000394363.1_Missense_Mutation_p.Y218S			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	247					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						ATGATCTGAATAGTGGACCAC	0.428																																					Ovarian(101;828 1506 2951 9500 35258)	ENST00000338144.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						c.(739-741)tAt>tCt		ecto-NOX disulfide-thiol exchanger 2							175.0	139.0	151.0					X																	129803980		2203	4300	6503	SO:0001583	missense	10495				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	g.chrX:129803980T>G	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"""RNA binding motif (RRM) containing"""	2259	protein-coding gene	gene with protein product		300282	"""cytosolic ovarian carcinoma antigen 1"""	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.740A>C	X.37:g.129803980T>G	ENSP00000359965:p.Tyr247Ser					ENOX2_ENST00000370935.1_Missense_Mutation_p.Y218S|ENOX2_ENST00000370927.1_Missense_Mutation_p.Y247S|ENOX2_ENST00000394363.1_Missense_Mutation_p.Y218S	p.Y247S	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN			8	1157	-			247					A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	37	c.740A>C	CCDS14626.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.051679	0.75960	.	.	ENSG00000165675	ENST00000538435;ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927;ENST00000432489	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.47097	0.1427	L	0.46741	1.465	0.58432	D	0.999997	P;P	0.45212	0.853;0.853	B;B	0.42112	0.376;0.376	T	0.43861	-0.9365	8	.	.	.	-12.7953	12.0185	0.53329	0.0:0.0:0.0:1.0	.	247;275	Q16206;A4QPE1	ENOX2_HUMAN;.	S	218;218;247;218;275;247;218	.	.	Y	-	2	0	ENOX2	129631661	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.622000	0.67750	1.968000	0.57251	0.486000	0.48141	TAT		0.428	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314		37	60	0	0	0	1	0	37	60				
CORO7	79585	broad.mit.edu	37	16	4412682	4412682	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr16:4412682C>A	ENST00000251166.4	-	15	1478	c.1333G>T	c.(1333-1335)Ggg>Tgg	p.G445W	CORO7_ENST00000539968.1_Missense_Mutation_p.G225W|CORO7_ENST00000574025.1_Missense_Mutation_p.G360W|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.G445W|CORO7_ENST00000537233.2_Missense_Mutation_p.G427W|CORO7_ENST00000423908.2_Missense_Mutation_p.G277W	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	445					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						AGTGAGGGCCCCAGGCTGGAG	0.667																																						ENST00000251166.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(1333-1335)Ggg>Tgg		coronin 7							41.0	39.0	40.0					16																	4412682		2195	4297	6492	SO:0001583	missense	79585							g.chr16:4412682C>A	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.1333G>T	16.37:g.4412682C>A	ENSP00000251166:p.Gly445Trp					CORO7_ENST00000539968.1_Missense_Mutation_p.G225W|CORO7_ENST00000537233.2_Missense_Mutation_p.G427W|CORO7_ENST00000574025.1_Missense_Mutation_p.G360W|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.G445W|CORO7_ENST00000423908.2_Missense_Mutation_p.G277W	p.G445W	NM_024535.4	NP_078811.3					15	1478	-								B4DFD6|B4DL18|I3L416|Q17RK4	Missense_Mutation	SNP	ENST00000251166.4	37	c.1333G>T	CCDS10513.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435263	0.83885	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000539968;ENST00000423908	T;T;T	0.63417	-0.04;-0.04;-0.04	4.95	4.95	0.65309	.	1.658450	0.04002	U	0.296622	T	0.79879	0.4522	L	0.60455	1.87	0.41715	D	0.989479	D;D;D;D;D;D	0.71674	0.997;0.998;0.992;0.99;0.998;0.99	D;D;P;P;D;P	0.71656	0.944;0.971;0.817;0.869;0.974;0.763	T	0.65216	-0.6222	10	0.72032	D	0.01	-27.0525	15.9524	0.79850	0.0:1.0:0.0:0.0	.	360;427;225;225;445;426	P57737-2;B4DFD6;B3KSY4;B3KUH7;P57737;B4DKU9	.;.;.;.;CORO7_HUMAN;.	W	445;360;225;277	ENSP00000251166:G445W;ENSP00000446221:G225W;ENSP00000391530:G277W	ENSP00000251166:G445W	G	-	1	0	CORO7	4352683	0.816000	0.29132	1.000000	0.80357	0.939000	0.58152	0.508000	0.22692	2.275000	0.75901	0.555000	0.69702	GGG		0.667	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535		3	40	1	0	0.004672	1	0.004672	3	40				
NPIPB6	728741	broad.mit.edu	37	16	28354353	28354353	+	Missense_Mutation	SNP	T	T	G	rs1794256	byFrequency	TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr16:28354353T>G	ENST00000532254.1	-	7	1538	c.853A>C	c.(853-855)Act>Cct	p.T285P	NPIPB6_ENST00000533640.1_Missense_Mutation_p.T267P	NM_001282524.1	NP_001269453.1	E9PJ23	NPIB6_HUMAN	nuclear pore complex interacting protein family, member B6	285	Pro-rich.							p.T285P(4)									AGACACTCAGTAGGTGTCTTG	0.507													.|||	997	0.199081	0.2231	0.3617	5008	,	,		17318	0.1865		0.1839	False		,,,				2504	0.0798					ENST00000532254.1																			4	Substitution - Missense(4)	p.T285P(4)	urinary_tract(2)|endometrium(2)								c.(853-855)Act>Cct		nuclear pore complex interacting protein family, member B6																																				SO:0001583	missense	728741							g.chr16:28354353T>G		CCDS61892.1	16p11.2	2013-06-11			ENSG00000198156	ENSG00000198156			37454	protein-coding gene	gene with protein product							Standard	XM_005255741		Approved			E9PJ23	OTTHUMG00000166319	ENST00000532254.1:c.853A>C	16.37:g.28354353T>G	ENSP00000431871:p.Thr285Pro					NPIPB6_ENST00000533640.1_Missense_Mutation_p.T267P	p.T285P							7	1538	-									Missense_Mutation	SNP	ENST00000532254.1	37	c.853A>C		.	.	.	.	.	.	.	.	.	.	-	0.001	-4.151814	0.00001	.	.	ENSG00000198156	ENST00000533640;ENST00000532254	T;T	0.24908	1.83;1.83	.	.	.	.	.	.	.	.	T	0.03915	0.0110	N	0.00823	-1.155	0.80722	P	0.0	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.17349	-1.0372	6	0.02654	T	1	.	.	.	.	rs1794256	285;267	E9PJ23;E9PS57	.;.	P	267;285	ENSP00000435924:T267P;ENSP00000431871:T285P	ENSP00000431871:T285P	T	-	1	0	RP11-57A19.3	28261854	0.006000	0.16342	0.001000	0.08648	0.001000	0.01503	-2.356000	0.01087	-4.094000	0.00074	-4.079000	0.00012	ACT		0.507	NPIPB6-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389133.1	XM_001717652		5	47	0	0	0	1	0	5	47				
AQP7	364	broad.mit.edu	37	9	33395149	33395149	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr9:33395149T>C	ENST00000539936.1	-	3	309	c.71A>G	c.(70-72)aAg>aGg	p.K24R	AQP7_ENST00000537089.1_5'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000541274.1_5'UTR			O14520	AQP7_HUMAN	aquaporin 7	24					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		TTCCTGGATCTTTGCTATCAC	0.557																																						ENST00000539936.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(70-72)aAg>aGg		aquaporin 7							93.0	63.0	73.0					9																	33395149		2203	4300	6503	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33395149T>C	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000539936.1:c.71A>G	9.37:g.33395149T>C	ENSP00000439534:p.Lys24Arg					AQP7_ENST00000377425.4_Intron|AQP7_ENST00000541274.1_5'UTR|AQP7_ENST00000537089.1_5'UTR	p.K24R			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	3	309	-			24					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000539936.1	37	c.71A>G		.	.	.	.	.	.	.	.	.	.	T	0.632	-0.816852	0.02776	.	.	ENSG00000165269	ENST00000379507;ENST00000297988;ENST00000379506;ENST00000539936	D;D;D;D	0.85556	-2.0;-1.99;-1.87;-1.86	3.36	-3.97	0.04094	.	.	.	.	.	T	0.59945	0.2231	N	0.05259	-0.085	0.09310	N	0.999999	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.002;0.001;0.001	T	0.52749	-0.8534	9	0.07482	T	0.82	-0.3787	4.4545	0.11637	0.0:0.2658:0.3164:0.4178	.	23;24;24	Q5T5M0;B7Z4U2;O14520	.;.;AQP7_HUMAN	R	23;24;23;24	ENSP00000368821:K23R;ENSP00000297988:K24R;ENSP00000368820:K23R;ENSP00000439534:K24R	ENSP00000297988:K24R	K	-	2	0	AQP7	33385149	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.903000	0.04084	-0.803000	0.04415	-1.622000	0.00790	AAG		0.557	AQP7-203	KNOWN	basic	protein_coding	protein_coding		NM_001170		3	35	0	0	0	1	0	3	35				
ANO3	63982	broad.mit.edu	37	11	26529704	26529704	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr11:26529704G>C	ENST00000256737.3	+	5	1338	c.486G>C	c.(484-486)aaG>aaC	p.K162N	ANO3_ENST00000531568.1_Missense_Mutation_p.K16N|ANO3_ENST00000537978.1_Missense_Mutation_p.K146N|ANO3_ENST00000525139.1_Missense_Mutation_p.K146N|ANO3_ENST00000531646.1_Missense_Mutation_p.K162N	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	162				K -> R (in Ref. 1; CAC32454). {ECO:0000305}.	calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						ATGGCAAAAAGAGAATTGATT	0.348																																						ENST00000256737.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(484-486)aaG>aaC		anoctamin 3							82.0	78.0	79.0					11																	26529704		2203	4300	6503	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26529704G>C	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.486G>C	11.37:g.26529704G>C	ENSP00000256737:p.Lys162Asn					ANO3_ENST00000525139.1_Missense_Mutation_p.K146N|ANO3_ENST00000531646.1_Missense_Mutation_p.K162N|ANO3_ENST00000531568.1_Missense_Mutation_p.K16N|ANO3_ENST00000537978.1_Missense_Mutation_p.K146N	p.K162N	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN			5	1338	+			162	K -> R (in Ref. 1; CAC32454).				B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.486G>C	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274703	0.59649	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000531646;ENST00000538001;ENST00000531568	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.13;-0.23	5.58	-0.775	0.10988	.	0.000000	0.85682	D	0.000000	T	0.63768	0.2539	M	0.61703	1.905	0.54753	D	0.999983	P;P	0.43885	0.82;0.82	B;P	0.45071	0.392;0.468	T	0.63892	-0.6534	10	0.87932	D	0	.	10.4056	0.44254	0.4062:0.0:0.5938:0.0	.	79;162	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	N	146;146;162;162;79;16	ENSP00000440737:K146N;ENSP00000432576:K146N;ENSP00000256737:K162N;ENSP00000435275:K162N;ENSP00000432394:K16N	ENSP00000256737:K162N	K	+	3	2	ANO3	26486280	1.000000	0.71417	0.840000	0.33206	0.973000	0.67179	1.495000	0.35627	-0.320000	0.08640	-0.224000	0.12420	AAG		0.348	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		19	22	0	0	0	1	0	19	22				
CDH5	1003	broad.mit.edu	37	16	66437025	66437025	+	Silent	SNP	C	C	T			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr16:66437025C>T	ENST00000341529.3	+	12	2456	c.2308C>T	c.(2308-2310)Ctg>Ttg	p.L770L	CDH5_ENST00000539168.1_Silent_p.L209L	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	770					adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	GTTTAAGATGCTGGCTGAGCT	0.632																																						ENST00000341529.3																			0				central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(2308-2310)Ctg>Ttg		cadherin 5, type 2 (vascular endothelium)							50.0	47.0	48.0					16																	66437025		2201	4300	6501	SO:0001819	synonymous_variant	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66437025C>T	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.2308C>T	16.37:g.66437025C>T						CDH5_ENST00000539168.1_Silent_p.L209L	p.L770L	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	12	2456	+		Ovarian(137;0.0955)	770					Q4VAI5|Q4VAI6	Silent	SNP	ENST00000341529.3	37	c.2308C>T	CCDS10804.1																																																																																				0.632	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		3	18	0	0	0	1	0	3	18				
FLG	2312	broad.mit.edu	37	1	152279816	152279816	+	Missense_Mutation	SNP	G	G	C	rs555298118		TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr1:152279816G>C	ENST00000368799.1	-	3	7581	c.7546C>G	c.(7546-7548)Caa>Gaa	p.Q2516E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2516	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTACGAGTTTGTCTGCTTGCA	0.567									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(7546-7548)Caa>Gaa		filaggrin							362.0	339.0	347.0					1																	152279816		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152279816G>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7546C>G	1.37:g.152279816G>C	ENSP00000357789:p.Gln2516Glu					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.Q2516E	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7581	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2516			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.7546C>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	2.515	-0.311990	0.05422	.	.	ENSG00000143631	ENST00000368799	T	0.03663	3.85	1.78	1.78	0.24846	.	.	.	.	.	T	0.00666	0.0022	L	0.35793	1.09	0.09310	N	1	P	0.36222	0.544	B	0.26094	0.066	T	0.38478	-0.9659	9	0.02654	T	1	.	6.9979	0.24793	0.0:0.0:1.0:0.0	.	2516	P20930	FILA_HUMAN	E	2516	ENSP00000357789:Q2516E	ENSP00000357789:Q2516E	Q	-	1	0	FLG	150546440	0.000000	0.05858	0.006000	0.13384	0.019000	0.09904	-0.103000	0.10940	0.993000	0.38866	0.306000	0.20318	CAA		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		5	468	0	0	0	1	0	5	468				
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328		TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51.0	56.0	55.0					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		4	159	0	0	0	1	0	4	159				
LPAR4	2846	broad.mit.edu	37	X	78010713	78010713	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chrX:78010713C>T	ENST00000435339.3	+	2	733	c.347C>T	c.(346-348)aCt>aTt	p.T116I		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	116					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						ATCTCTGGAACTGCATTCCTT	0.423																																						ENST00000435339.2																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						c.(346-348)aCt>aTt		lysophosphatidic acid receptor 4							185.0	149.0	161.0					X																	78010713		2203	4299	6502	SO:0001583	missense	2846					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78010713C>T	U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	4478	protein-coding gene	gene with protein product		300086	"""G protein-coupled receptor 23"""	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.347C>T	X.37:g.78010713C>T	ENSP00000408205:p.Thr116Ile					LPAR4_ENST00000373301.2_Missense_Mutation_p.T116I	p.T116I	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN			2	752	+			116					B2RAC7|O15132|Q502U9|Q6NSP5	Missense_Mutation	SNP	ENST00000435339.3	37	c.347C>T	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450361	0.43531	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	T;T	0.36878	1.23;1.23	4.21	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.139718	0.47852	D	0.000201	T	0.39835	0.1093	L	0.47716	1.5	0.43347	D	0.995406	P	0.44281	0.831	P	0.48425	0.577	T	0.12142	-1.0559	10	0.25106	T	0.35	.	14.3969	0.67018	0.0:1.0:0.0:0.0	.	116	Q99677	LPAR4_HUMAN	I	116	ENSP00000408205:T116I;ENSP00000362398:T116I	ENSP00000362398:T116I	T	+	2	0	LPAR4	77897369	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.355000	0.66046	1.943000	0.56356	0.422000	0.28245	ACT		0.423	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296		33	113	0	0	0	1	0	33	113				
AP4E1	23431	broad.mit.edu	37	15	51285806	51285806	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr15:51285806A>G	ENST00000261842.5	+	17	2436	c.2330A>G	c.(2329-2331)gAa>gGa	p.E777G	AP4E1_ENST00000560508.1_Missense_Mutation_p.E702G	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	777					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		CTAGGATCAGAAAGTACAATC	0.378																																						ENST00000261842.5																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27						c.(2329-2331)gAa>gGa		adaptor-related protein complex 4, epsilon 1 subunit							115.0	111.0	112.0					15																	51285806		2196	4294	6490	SO:0001583	missense	23431				intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	g.chr15:51285806A>G	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.2330A>G	15.37:g.51285806A>G	ENSP00000261842:p.Glu777Gly					AP4E1_ENST00000560508.1_Missense_Mutation_p.E702G	p.E777G	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN		all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)	17	2436	+			777					A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	37	c.2330A>G	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	A	11.09	1.536178	0.27475	.	.	ENSG00000081014	ENST00000261842	T	0.19250	2.16	5.28	5.28	0.74379	.	0.366441	0.31082	N	0.008285	T	0.13157	0.0319	N	0.19112	0.55	0.30140	N	0.804032	B	0.26318	0.146	B	0.24974	0.057	T	0.09015	-1.0694	10	0.33940	T	0.23	-11.4487	9.1287	0.36833	0.9148:0.0:0.0852:0.0	.	777	Q9UPM8	AP4E1_HUMAN	G	777	ENSP00000261842:E777G	ENSP00000261842:E777G	E	+	2	0	AP4E1	49073098	1.000000	0.71417	0.999000	0.59377	0.598000	0.36846	3.433000	0.52834	1.984000	0.57885	0.455000	0.32223	GAA		0.378	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			32	61	0	0	0	1	0	32	61				
AK9	221264	broad.mit.edu	37	6	109818700	109818700	+	Silent	SNP	A	A	G			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr6:109818700A>G	ENST00000424296.2	-	38	5359	c.5283T>C	c.(5281-5283)tgT>tgC	p.C1761C	RP5-919F19.5_ENST00000423747.2_RNA	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1761					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										CTTTGTTCTCACAAATATATA	0.338																																						ENST00000424296.2																			0											c.(5281-5283)tgT>tgC		adenylate kinase 9							45.0	49.0	47.0					6																	109818700		2201	4300	6501	SO:0001819	synonymous_variant	221264							g.chr6:109818700A>G	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.5283T>C	6.37:g.109818700A>G						RP5-919F19.5_ENST00000423747.1_RNA	p.C1761C	NM_001145128.2	NP_001138600.2					38	5359	-								A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Silent	SNP	ENST00000424296.2	37	c.5283T>C	CCDS55048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.857|5.857	0.342399|0.342399	0.11069|0.11069	.|.	.|.	ENSG00000155085|ENSG00000155085	ENST00000470564|ENST00000490722	.|.	.|.	.|.	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	.|.	.|.	.|.	.|.	T|.	0.45175|.	0.1329|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.49799|.	-0.8901|.	4|.	.|.	.|.	.|.	.|.	7.5198|7.5198	0.27622|0.27622	0.7802:0.143:0.0769:0.0|0.7802:0.143:0.0769:0.0	.|.	.|.	.|.	.|.	A|R	599|162	.|.	.|.	V|X	-|-	2|1	0|0	AKD1|AKD1	109925393|109925393	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.672000|0.672000	0.39443|0.39443	4.511000|4.511000	0.60462|0.60462	1.885000|1.885000	0.54596|0.54596	0.459000|0.459000	0.35465|0.35465	GTG|TGA		0.338	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		27	45	0	0	0	1	0	27	45				
TBP	6908	broad.mit.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427|rs369312237	byFrequency	TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572																																						ENST00000392092.2																			4	Substitution - coding silent(4)	p.Q76Q(4)	lung(3)|prostate(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(226-228)caG>caA		TATA box binding protein							14.0	19.0	17.0					6																	170871052		1952	3842	5794	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871052G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.228G>A	6.37:g.170871052G>A						TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q	p.Q76Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	507	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	76			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.228G>A	CCDS5315.1																																																																																				0.572	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		3	33	0	0	0	1	0	3	33				
SLC26A2	1836	broad.mit.edu	37	5	149360408	149360408	+	Missense_Mutation	SNP	A	A	G	rs374309119		TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr5:149360408A>G	ENST00000286298.4	+	3	1520	c.1252A>G	c.(1252-1254)Atg>Gtg	p.M418V		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	418					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AAACCAGGAAATGTATGCCAT	0.388																																						ENST00000286298.4																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18						c.(1252-1254)Atg>Gtg		solute carrier family 26 (anion exchanger), member 2		A	VAL/MET	0,4406		0,0,2203	92.0	86.0	88.0		1252	5.7	1.0	5		88	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC26A2	NM_000112.3	21	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	possibly-damaging	418/740	149360408	1,13005	2203	4300	6503	SO:0001583	missense	1836					integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity	g.chr5:149360408A>G	U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"""Solute carriers"""	10994	protein-coding gene	gene with protein product		606718	"""solute carrier family 26 (sulfate transporter), member 2"""	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.1252A>G	5.37:g.149360408A>G	ENSP00000286298:p.Met418Val						p.M418V	NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		3	1520	+			418					A8K2U3|B2R6J1|Q6N051	Missense_Mutation	SNP	ENST00000286298.4	37	c.1252A>G	CCDS4300.1	.	.	.	.	.	.	.	.	.	.	A	17.13	3.311215	0.60414	0.0	1.16E-4	ENSG00000155850	ENST00000286298	D	0.93189	-3.18	5.71	5.71	0.89125	Sulphate transporter (1);	0.036541	0.85682	D	0.000000	D	0.96592	0.8888	M	0.82323	2.585	0.50039	D	0.99984	D	0.56035	0.974	D	0.64877	0.93	D	0.97152	0.9832	10	0.87932	D	0	.	15.9869	0.80160	1.0:0.0:0.0:0.0	.	418	P50443	S26A2_HUMAN	V	418	ENSP00000286298:M418V	ENSP00000286298:M418V	M	+	1	0	SLC26A2	149340601	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	9.281000	0.95811	2.171000	0.68590	0.533000	0.62120	ATG		0.388	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252333.2	NM_000112		5	83	0	0	0	1	0	5	83				
FAT1	2195	broad.mit.edu	37	4	187630130	187630130	+	Silent	SNP	A	A	G			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr4:187630130A>G	ENST00000441802.2	-	2	1061	c.852T>C	c.(850-852)ggT>ggC	p.G284G		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	284					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CACCATTGGCACCCTGATCGC	0.483										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(850-852)ggT>ggC		FAT atypical cadherin 1							279.0	277.0	277.0					4																	187630130		2155	4252	6407	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187630130A>G	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.852T>C	4.37:g.187630130A>G		HNSCC(5;0.00058)					p.G284G	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			2	1061	-			284						Silent	SNP	ENST00000441802.2	37	c.852T>C	CCDS47177.1																																																																																				0.483	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		9	263	0	0	0	1	0	9	263				
SSX6	280657	broad.mit.edu	37	X	47972599	47972599	+	IGR	SNP	G	G	T			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chrX:47972599G>T								snoU13 (31360 upstream) : SSX6 (3866 downstream)																							GATGACTTTTGGCAGGCTCCA	0.453																																						ENST00000319275.3																			0				large_intestine(6)|lung(4)|skin(2)|stomach(1)	13						c.(10-12)Ggc>Tgc									125.0	136.0	132.0					X																	47972599		1505	2703	4208	SO:0001628	intergenic_variant	280657							g.chrX:47972599G>T																													X.37:g.47972599G>T						SSX6_ENST00000376932.2_Missense_Mutation_p.G102C	p.G4C							5	376	+									Missense_Mutation	SNP		37	c.10G>T		.	.	.	.	.	.	.	.	.	.	.	4.270	0.049296	0.08243	.	.	ENSG00000171483	ENST00000376932;ENST00000319275	T;T	0.52057	3.06;0.68	2.37	-3.26	0.05064	.	1.722310	0.03783	N	0.261614	T	0.63733	0.2536	.	.	.	0.09310	N	1	D;B	0.89917	1.0;0.012	D;B	0.91635	0.999;0.021	T	0.58885	-0.7557	9	0.66056	D	0.02	.	7.1221	0.25450	0.491:0.0:0.509:0.0	.	102;102	B7Z813;Q7RTT6	.;SSX6_HUMAN	C	102;4	ENSP00000366131:G102C;ENSP00000325176:G4C	ENSP00000325176:G4C	G	+	1	0	SSX6	47857543	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.164000	0.09983	-1.022000	0.03346	-1.443000	0.01068	GGC	0	0.453									90	161	1	0	2.05045e-34	1	2.16762e-34	90	161				
ZNF676	163223	broad.mit.edu	37	19	22363510	22363510	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr19:22363510A>G	ENST00000397121.2	-	3	1326	c.1009T>C	c.(1009-1011)Tac>Cac	p.Y337H		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	337					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCACATTTGTAGGGTTTCTCT	0.413																																						ENST00000397121.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67						c.(1009-1011)Tac>Cac		zinc finger protein 676							71.0	77.0	75.0					19																	22363510		2170	4281	6451	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363510A>G	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1009T>C	19.37:g.22363510A>G	ENSP00000380310:p.Tyr337His						p.Y337H	NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN			3	1326	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	337					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.1009T>C	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	10.91	1.483984	0.26598	.	.	ENSG00000196109	ENST00000397121	T	0.21734	1.99	0.85	0.85	0.18980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26448	0.0646	N	0.17723	0.515	0.09310	N	1	D	0.76494	0.999	D	0.91635	0.999	T	0.12426	-1.0548	9	0.66056	D	0.02	.	6.592	0.22651	1.0:0.0:0.0:0.0	.	337	Q8N7Q3	ZN676_HUMAN	H	337	ENSP00000380310:Y337H	ENSP00000380310:Y337H	Y	-	1	0	ZNF676	22155350	0.017000	0.18338	0.026000	0.17262	0.026000	0.11368	2.739000	0.47409	0.166000	0.19597	0.164000	0.16699	TAC		0.413	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		14	142	0	0	0	1	0	14	142				
ARHGEF39	84904	broad.mit.edu	37	9	35664419	35664419	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr9:35664419G>A	ENST00000378387.3	-	3	421	c.304C>T	c.(304-306)Ctc>Ttc	p.L102F	ARHGEF39_ENST00000490970.1_5'UTR|ARHGEF39_ENST00000378395.2_Missense_Mutation_p.L66F|ARHGEF39_ENST00000343259.3_Missense_Mutation_p.L102F	NM_032818.2	NP_116207.2	Q8N4T4	ARG39_HUMAN	Rho guanine nucleotide exchange factor (GEF) 39	102	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				positive regulation of cell migration (GO:0030335)	plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)										TGGTTATAGAGCTCCAAGTGG	0.572																																						ENST00000378387.3																			0											c.(304-306)Ctc>Ttc		Rho guanine nucleotide exchange factor (GEF) 39							99.0	107.0	104.0					9																	35664419		2203	4300	6503	SO:0001583	missense	84904							g.chr9:35664419G>A	AK001187	CCDS6584.2	9p13.3	2012-08-08	2012-08-08	2012-08-08	ENSG00000137135	ENSG00000137135			25909	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 100"""	C9orf100		22327280	Standard	XR_242516		Approved	FLJ14642	uc003zxm.1	Q8N4T4	OTTHUMG00000019869	ENST00000378387.3:c.304C>T	9.37:g.35664419G>A	ENSP00000367638:p.Leu102Phe					ARHGEF39_ENST00000378395.2_Missense_Mutation_p.L66F|ARHGEF39_ENST00000343259.3_Missense_Mutation_p.L102F|ARHGEF39_ENST00000490970.1_5'UTR	p.L102F	NM_032818.2	NP_116207.2					3	421	-								Q49AG0|Q6TPQ2|Q96ST6	Missense_Mutation	SNP	ENST00000378387.3	37	c.304C>T	CCDS6584.2	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583859	0.86748	.	.	ENSG00000137135	ENST00000378387;ENST00000378395;ENST00000343259	T;T;T	0.64803	-0.12;-0.12;-0.12	6.02	5.12	0.69794	Dbl homology (DH) domain (5);	0.121237	0.53938	N	0.000056	T	0.76586	0.4008	M	0.76574	2.34	0.58432	D	0.999998	D;D	0.76494	0.999;0.996	D;D	0.75020	0.985;0.96	T	0.78679	-0.2110	10	0.62326	D	0.03	-24.4927	11.1164	0.48262	0.0844:0.0:0.9156:0.0	.	102;102	B4E0T1;Q8N4T4	.;CI100_HUMAN	F	102;66;102	ENSP00000367638:L102F;ENSP00000367648:L66F;ENSP00000344922:L102F	ENSP00000344922:L102F	L	-	1	0	C9orf100	35654419	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.231000	0.51294	1.551000	0.49450	0.655000	0.94253	CTC		0.572	ARHGEF39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052330.1	NM_032818		30	59	0	0	0	1	0	30	59				
OR51V1	283111	broad.mit.edu	37	11	5221718	5221718	+	Silent	SNP	G	G	A			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr11:5221718G>A	ENST00000321255.1	-	1	212	c.213C>T	c.(211-213)ttC>ttT	p.F71F		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	71					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCATGGACAGGAAGTAAAACA	0.527																																						ENST00000321255.1																			0				endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39						c.(211-213)ttC>ttT		olfactory receptor, family 51, subfamily V, member 1							109.0	92.0	98.0					11																	5221718		2201	4298	6499	SO:0001819	synonymous_variant	283111				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5221718G>A	BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.213C>T	11.37:g.5221718G>A							p.F71F	NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	212	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	71						Silent	SNP	ENST00000321255.1	37	c.213C>T	CCDS31375.1																																																																																				0.527	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	NM_001004760		27	46	0	0	0	1	0	27	46				
VAV1	7409	broad.mit.edu	37	19	6833230	6833230	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr19:6833230G>A	ENST00000602142.1	+	16	1626	c.1544G>A	c.(1543-1545)gGg>gAg	p.G515E	VAV1_ENST00000596764.1_Missense_Mutation_p.G483E|VAV1_ENST00000539284.1_Missense_Mutation_p.G418E|VAV1_ENST00000599806.1_Missense_Mutation_p.G460E|VAV1_ENST00000304076.2_Missense_Mutation_p.G515E	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	515					apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						ACCGCCAACGGGCATGACTTC	0.468																																						ENST00000304076.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.(1543-1545)gGg>gAg		vav 1 guanine nucleotide exchange factor							57.0	51.0	53.0					19																	6833230		2203	4300	6503	SO:0001583	missense	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6833230G>A		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1544G>A	19.37:g.6833230G>A	ENSP00000472929:p.Gly515Glu					VAV1_ENST00000602142.1_Missense_Mutation_p.G515E|VAV1_ENST00000596764.1_Missense_Mutation_p.G483E|VAV1_ENST00000599806.1_Missense_Mutation_p.G460E|VAV1_ENST00000539284.1_Missense_Mutation_p.G418E	p.G515E	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN			16	1638	+			515					B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	c.1544G>A	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	G	9.759	1.169520	0.21621	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.75704	0.03;-0.96	4.85	4.85	0.62838	Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Pleckstrin homology-type (1);	0.407209	0.25598	N	0.029562	T	0.61590	0.2359	L	0.33485	1.01	0.40445	D	0.98008	D;D;B;P	0.55172	0.96;0.97;0.211;0.896	B;B;B;B	0.38842	0.283;0.261;0.059;0.084	T	0.63134	-0.6705	10	0.22706	T	0.39	.	15.4697	0.75432	0.0:0.0:1.0:0.0	.	418;515;460;515	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	E	515;418	ENSP00000302269:G515E;ENSP00000443242:G418E	ENSP00000302269:G515E	G	+	2	0	VAV1	6784230	0.872000	0.30054	0.195000	0.23364	0.521000	0.34408	2.552000	0.45828	2.242000	0.73789	0.650000	0.86243	GGG		0.468	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			18	24	0	0	0	1	0	18	24				
TTC39C	125488	broad.mit.edu	37	18	21710341	21710341	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr18:21710341C>T	ENST00000317571.3	+	12	1819	c.1583C>T	c.(1582-1584)gCc>gTc	p.A528V	TTC39C_ENST00000304621.6_Missense_Mutation_p.A467V|TTC39C_ENST00000540918.2_Missense_Mutation_p.A221V	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	528										breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						CAGCCGTATGCCTGTTATGAA	0.313																																						ENST00000540918.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						c.(661-663)gCc>gTc		tetratricopeptide repeat domain 39C							159.0	151.0	154.0					18																	21710341		2202	4300	6502	SO:0001583	missense	125488						binding	g.chr18:21710341C>T	AK091080	CCDS32804.1, CCDS45839.1, CCDS58616.1	18q11.2	2014-02-07	2008-06-23	2008-06-23	ENSG00000168234	ENSG00000168234		"""Tetratricopeptide (TTC) repeat domain containing"""	26595	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 17"""	C18orf17		14702039	Standard	NM_153211		Approved	FLJ33761, HsT2697	uc002kuw.3	Q8N584	OTTHUMG00000179403	ENST00000317571.3:c.1583C>T	18.37:g.21710341C>T	ENSP00000323645:p.Ala528Val					TTC39C_ENST00000317571.3_Missense_Mutation_p.A528V|TTC39C_ENST00000304621.6_Missense_Mutation_p.A467V	p.A221V			Q8N584	TT39C_HUMAN			7	912	+			528					B7WP63|J3QRR1|Q0VAJ2|Q8N284	Missense_Mutation	SNP	ENST00000317571.3	37	c.662C>T	CCDS45839.1	.	.	.	.	.	.	.	.	.	.	C	36	5.689535	0.96784	.	.	ENSG00000168234	ENST00000304621;ENST00000317571;ENST00000540918	T;T;T	0.79033	-1.23;0.67;-1.23	6.08	6.08	0.98989	.	0.095259	0.64402	D	0.000001	D	0.89371	0.6696	M	0.83118	2.625	0.80722	D	1	D	0.76494	0.999	D	0.67548	0.952	D	0.89505	0.3767	10	0.87932	D	0	-0.3533	20.6647	0.99678	0.0:1.0:0.0:0.0	.	528	Q8N584	TT39C_HUMAN	V	467;528;221	ENSP00000306598:A467V;ENSP00000323645:A528V;ENSP00000443016:A221V	ENSP00000306598:A467V	A	+	2	0	TTC39C	19964339	1.000000	0.71417	0.998000	0.56505	0.934000	0.57294	7.487000	0.81328	2.890000	0.99128	0.655000	0.94253	GCC		0.313	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446107.1	NM_153211		5	139	0	0	0	1	0	5	139				
NOL4	8715	broad.mit.edu	37	18	31432959	31432959	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr18:31432959G>C	ENST00000261592.5	-	11	2061	c.1764C>G	c.(1762-1764)agC>agG	p.S588R	NOL4_ENST00000535384.1_Missense_Mutation_p.S303R|NOL4_ENST00000538587.1_Missense_Mutation_p.S514R|NOL4_ENST00000589544.1_Missense_Mutation_p.S486R|NOL4_ENST00000269185.4_Missense_Mutation_p.S372R|NOL4_ENST00000535475.1_Missense_Mutation_p.S369R	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	588						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						AGGATCCTGAGCTAGTCGCCA	0.443																																						ENST00000261592.5																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(1762-1764)agC>agG		nucleolar protein 4							98.0	90.0	93.0					18																	31432959		2203	4300	6503	SO:0001583	missense	8715					nucleolus	RNA binding	g.chr18:31432959G>C	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1764C>G	18.37:g.31432959G>C	ENSP00000261592:p.Ser588Arg					NOL4_ENST00000269185.4_Missense_Mutation_p.S372R|NOL4_ENST00000589544.1_Missense_Mutation_p.S486R|NOL4_ENST00000535384.1_Missense_Mutation_p.S303R|NOL4_ENST00000538587.1_Missense_Mutation_p.S514R|NOL4_ENST00000535475.1_Missense_Mutation_p.S369R	p.S588R	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN			11	2061	-			588					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	c.1764C>G	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	G	11.38	1.620516	0.28801	.	.	ENSG00000101746	ENST00000261592;ENST00000269185;ENST00000535384;ENST00000535475;ENST00000538587	.	.	.	5.75	4.88	0.63580	.	0.057281	0.64402	D	0.000001	T	0.60702	0.2289	L	0.53249	1.67	0.34715	D	0.728123	P;P;P;P;D;B	0.62365	0.573;0.879;0.573;0.573;0.991;0.214	B;P;B;B;P;B	0.56088	0.259;0.448;0.277;0.259;0.791;0.158	T	0.73534	-0.3952	9	0.72032	D	0.01	-8.1417	11.6821	0.51463	0.1415:0.0:0.8585:0.0	.	303;514;588;303;486;369	B7Z3Z7;B4DSQ0;O94818;F5H1E3;O94818-2;B3KRF4	.;.;NOL4_HUMAN;.;.;.	R	588;372;303;369;514	.	ENSP00000261592:S588R	S	-	3	2	NOL4	29686957	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	3.501000	0.53325	1.430000	0.47334	0.655000	0.94253	AGC		0.443	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		5	58	0	0	0	1	0	5	58				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414926	14414926	+	RNA	SNP	A	A	C			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr21:14414926A>C	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		AAACAGGACAACTCTGATGAA	0.403																																						ENST00000507941.1																			0																																																			149992							g.chr21:14414926A>C	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414926A>C														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.403	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		4	91	0	0	0	1	0	4	91				
PRPF8	10594	broad.mit.edu	37	17	1554459	1554459	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr17:1554459G>A	ENST00000572621.1	-	41	7061	c.6796C>T	c.(6796-6798)Cgt>Tgt	p.R2266C	RILP_ENST00000301336.6_5'Flank|PRPF8_ENST00000575116.1_5'Flank|PRPF8_ENST00000304992.6_Missense_Mutation_p.R2266C			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	2266					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CCAAGGAAACGGTCCGACAGC	0.572																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(6796-6798)Cgt>Tgt		pre-mRNA processing factor 8							75.0	61.0	66.0					17																	1554459		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1554459G>A	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.6796C>T	17.37:g.1554459G>A	ENSP00000460348:p.Arg2266Cys					PRPF8_ENST00000304992.6_Missense_Mutation_p.R2266C	p.R2266C			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	41	7061	-			2266					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.6796C>T	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.072957	0.55646	.	.	ENSG00000174231	ENST00000304992	D	0.94828	-3.53	5.58	4.61	0.57282	PRO, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96519	0.8864	M	0.88775	2.98	0.80722	D	1	D	0.64830	0.994	P	0.54026	0.74	D	0.96791	0.9582	10	0.87932	D	0	.	13.5789	0.61890	0.0746:0.0:0.9254:0.0	.	2266	Q6P2Q9	PRP8_HUMAN	C	2266	ENSP00000304350:R2266C	ENSP00000304350:R2266C	R	-	1	0	PRPF8	1501209	1.000000	0.71417	0.976000	0.42696	0.191000	0.23601	7.592000	0.82676	1.366000	0.46076	-0.140000	0.14226	CGT		0.572	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			3	29	0	0	0	1	0	3	29				
TP53	7157	broad.mit.edu	37	17	7577084	7577084	+	Missense_Mutation	SNP	T	T	A	rs121912667		TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr17:7577084T>A	ENST00000269305.4	-	8	1043	c.854A>T	c.(853-855)gAg>gTg	p.E285V	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.E285V|TP53_ENST00000420246.2_Missense_Mutation_p.E285V|TP53_ENST00000359597.4_Missense_Mutation_p.E285V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.E285V	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	285	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726, ECO:0000269|PubMed:1694291}.|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E285V(15)|p.0?(8)|p.E285G(5)|p.?(2)|p.E285A(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATTCTCTTCCTCTGTGCGCCG	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		46	Substitution - Missense(22)|Deletion - Frameshift(8)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(2)	p.E285V(15)|p.0?(8)|p.E285G(5)|p.?(2)|p.E285A(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)	liver(7)|upper_aerodigestive_tract(5)|lung(5)|soft_tissue(4)|central_nervous_system(4)|bone(4)|large_intestine(3)|stomach(3)|breast(3)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|biliary_tract(1)|salivary_gland(1)|skin(1)|ovary(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM083790	TP53	M	rs121912667	c.(853-855)gAg>gTg	Other conserved DNA damage response genes	tumor protein p53							92.0	79.0	83.0					17																	7577084		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577084T>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.854A>T	17.37:g.7577084T>A	ENSP00000269305:p.Glu285Val	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.E285V|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.E285V|TP53_ENST00000359597.4_Missense_Mutation_p.E285V|TP53_ENST00000269305.4_Missense_Mutation_p.E285V	p.E285V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	986	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	285		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.854A>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.367808	0.82463	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99825	-6.97;-6.97;-6.97;-6.97;-6.97;-6.97	4.99	4.99	0.66335	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99792	0.9912	M	0.84846	2.72	0.80722	D	1	D;D;D;D	0.76494	0.999;0.994;0.999;0.999	D;D;D;D	0.85130	0.994;0.976;0.994;0.997	D	0.96880	0.9645	10	0.87932	D	0	-38.0538	12.6799	0.56916	0.0:0.0:0.0:1.0	.	285;285;285;285	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	V	285;285;285;285;285;274;153	ENSP00000352610:E285V;ENSP00000269305:E285V;ENSP00000398846:E285V;ENSP00000391127:E285V;ENSP00000391478:E285V;ENSP00000425104:E153V	ENSP00000269305:E285V	E	-	2	0	TP53	7517809	1.000000	0.71417	0.939000	0.37840	0.649000	0.38597	7.802000	0.85969	2.085000	0.62840	0.379000	0.24179	GAG		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		21	5	0	0	0	1	0	21	5				
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796|rs79472512	byFrequency	TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1				espin pseudogene																		CAGCAGCAGCCAGCTGAGCACC	0.718														1500	0.299521	0.1188	0.3444	5008	,	,		24180	0.4177		0.3101	False		,,,				2504	0.3793					ENST00000492551.1																			0																																																			284729							g.chr1:17034125_17034126insAGCT	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17034126_17034129dupAGCT								NR_026567.1						0	477_478	-									RNA	INS	ENST00000492551.1	37																																																																																						0.718	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			7	7						7	7	---	---	---	---
ANKRD36BP2	645784	broad.mit.edu	37	2	89083945	89083946	+	RNA	INS	-	-	GC			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr2:89083945_89083946insGC	ENST00000393525.3	+	0	576									ankyrin repeat domain 36B pseudogene 2																		GTATTCCTTTTTTTTCAGTGTA	0.347																																						ENST00000393525.3																			0																																																			645784							g.chr2:89083945_89083946insGC			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89083945_89083946insGC														0	576	+									RNA	INS	ENST00000393525.3	37																																																																																						0.347	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			3	4						3	4	---	---	---	---
VCAN	1462	broad.mit.edu	37	5	82835161	82835163	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr5:82835161_82835163delAAC	ENST00000265077.3	+	8	6904_6906	c.6339_6341delAAC	c.(6337-6342)gaaaca>gaa	p.T2115del	VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_In_Frame_Del_p.T1128del	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2115	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TTGAAAGTGAAACAACATCAGAG	0.379																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(6337-6342)gaa>ga		versican																																				SO:0001651	inframe_deletion	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82835161_82835163delAAC	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.6339_6341delAAC	5.37:g.82835164_82835166delAAC	ENSP00000265077:p.Thr2115del					VCAN_ENST00000343200.5_In_Frame_Del_p.ET1126del|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA	p.ET2113del	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	6904_6906	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	2113			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	In_Frame_Del	DEL	ENST00000265077.3	37	c.6339_6341delAAC	CCDS4060.1																																																																																				0.379	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		20	56						20	56	---	---	---	---
PRR25	388199	broad.mit.edu	37	16	863356	863372	+	Frame_Shift_Del	DEL	GGACGCCGGACCGACAC	GGACGCCGGACCGACAC	-	rs367751056|rs199580467|rs371962006|rs200304320|rs138733834	byFrequency	TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr16:863356_863372delGGACGCCGGACCGACAC	ENST00000301698.1	+	3	704_720	c.704_720delGGACGCCGGACCGACAC	c.(703-720)aggacgccggaccgacacfs	p.RTPDRH235fs		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	235										large_intestine(1)|lung(1)|skin(1)	3						GGACCGGCAAGGACGCCGGACCGACACGGCCTCCCCA	0.714														1307	0.260982	0.6876	0.2622	5008	,	,		14975	0.0675		0.0755	False		,,,				2504	0.0736					ENST00000301698.1																			0				large_intestine(1)|lung(1)|skin(1)	3						c.(703-720)afs		proline rich 25																																				SO:0001589	frameshift_variant	388199							g.chr16:863356_863372delGGACGCCGGACCGACAC	BC156145	CCDS45372.1	16p13.3	2009-09-11			ENSG00000167945	ENSG00000167945			37230	protein-coding gene	gene with protein product						11157797	Standard	NM_001013638		Approved	gs64	uc010uut.2	Q96S07		ENST00000301698.1:c.704_720delGGACGCCGGACCGACAC	16.37:g.863356_863372delGGACGCCGGACCGACAC	ENSP00000301698:p.Arg235fs						p.RTPDRH235fs	NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN			3	704_720	+			235						Frame_Shift_Del	DEL	ENST00000301698.1	37	c.704_720delGGACGCCGGACCGACAC	CCDS45372.1																																																																																				0.714	PRR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440563.1	NM_001013638		6	3						6	3	---	---	---	---
CD99L2	83692	broad.mit.edu	37	X	149984524	149984526	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chrX:149984524_149984526delGTG	ENST00000370377.3	-	3	273_275	c.156_158delCAC	c.(154-159)accaca>aca	p.52_53TT>T	CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_In_Frame_Del_p.52_53TT>T	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	52	Poly-Thr.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTATTGGTTGTGGTGGTGGTGG	0.552																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(154-159)aca>ac		CD99 molecule-like 2																																				SO:0001651	inframe_deletion	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149984524_149984526delGTG	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"""MIC2 like 1"", ""CD99 antigen-like 2"""	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.156_158delCAC	X.37:g.149984533_149984535delGTG	ENSP00000359403:p.Thr54del					CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del|CD99L2_ENST00000346693.4_5'UTR	p.TT52del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			3	273_275	-	Acute lymphoblastic leukemia(192;6.56e-05)		52			Poly-Thr.		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	In_Frame_Del	DEL	ENST00000370377.3	37	c.156_158delCAC	CCDS35427.1																																																																																				0.552	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		7	219						7	219	---	---	---	---
