#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SLC12A7	10723	broad.mit.edu	37	5	1060463	1060463	+	Missense_Mutation	SNP	C	C	A	rs143654475		TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr5:1060463C>A	ENST00000264930.5	-	21	2886	c.2843G>T	c.(2842-2844)cGa>cTa	p.R948L	MIR4635_ENST00000583759.1_RNA	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	948					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	ACGTACCTCTCGCTCCTGCTC	0.562																																						ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(2842-2844)cGa>cTa		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)						172.0	139.0	150.0					5																	1060463		2203	4300	6503	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1060463C>A	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.2843G>T	5.37:g.1060463C>A	ENSP00000264930:p.Arg948Leu		Somatic					p.R948L	NM_006598.2	NP_006589.2	WXS	Illumina GAIIx	Phase_I	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		21	2886	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		948					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.2843G>T	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.948571	0.53186	.	.	ENSG00000113504	ENST00000264930	T	0.46451	0.87	4.22	4.22	0.49857	.	0.105103	0.64402	D	0.000004	T	0.47322	0.1439	M	0.78223	2.4	0.58432	D	0.999991	B	0.31910	0.346	B	0.33121	0.158	T	0.55451	-0.8139	10	0.54805	T	0.06	.	15.1183	0.72423	0.0:1.0:0.0:0.0	.	948	Q9Y666	S12A7_HUMAN	L	948	ENSP00000264930:R948L	ENSP00000264930:R948L	R	-	2	0	SLC12A7	1113463	0.998000	0.40836	0.818000	0.32626	0.054000	0.15201	6.830000	0.75319	1.911000	0.55334	0.467000	0.42956	CGA		0.562	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		20	31	1	0	2.39556e-15	1	2.39556e-15	20	31				
USP49	25862	broad.mit.edu	37	6	41766669	41766669	+	Splice_Site	SNP	T	T	G			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr6:41766669T>G	ENST00000394253.3	-	6	2000		c.e6-2		USP49_ENST00000373009.3_Splice_Site|USP49_ENST00000373006.1_Splice_Site|USP49_ENST00000373010.1_Splice_Site|USP49_ENST00000297229.2_Splice_Site			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49						histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCAGACCACCTAGAACATGGA	0.413																																						ENST00000394253.3																			1	Unknown(1)	p.?(1)	endometrium(1)	breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23						c.e6-2		ubiquitin specific peptidase 49							71.0	64.0	67.0					6																	41766669		2203	4300	6503	SO:0001630	splice_region_variant	25862				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:41766669T>G	AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"""Ubiquitin-specific peptidases"""	20078	protein-coding gene	gene with protein product			"""ubiquitin specific protease 49"""			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.1671-2A>C	6.37:g.41766669T>G			Somatic				USP49_ENST00000373009.3_Splice_Site|USP49_ENST00000373010.1_Splice_Site|USP49_ENST00000297229.2_Splice_Site|USP49_ENST00000373006.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q70CQ1	UBP49_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		6	2000	-	Ovarian(28;0.0919)|Colorectal(47;0.121)							Q5T3D9|Q5T3E0|Q96CK4	Splice_Site	SNP	ENST00000394253.3	37			.	.	.	.	.	.	.	.	.	.	T	23.5	4.424080	0.83667	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8428	0.78864	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	USP49	41874647	1.000000	0.71417	0.937000	0.37676	0.986000	0.74619	8.040000	0.89188	2.234000	0.73211	0.533000	0.62120	.		0.413	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561	Intron	6	75	0	0	0	1	0	6	75				
FKBP9	11328	broad.mit.edu	37	7	33028245	33028245	+	Silent	SNP	G	G	A			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr7:33028245G>A	ENST00000242209.4	+	6	1189	c.1020G>A	c.(1018-1020)ggG>ggA	p.G340G	FKBP9_ENST00000538336.1_Silent_p.G393G|FKBP9_ENST00000489038.1_3'UTR|FKBP9_ENST00000490776.2_Silent_p.G108G|FKBP9_ENST00000538443.1_Silent_p.G202G|AVL9_ENST00000404479.1_Intron	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	340	PPIase FKBP-type 3. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			CTCACCTGGGGTATGGAGAGG	0.512																																						ENST00000242209.4																			0				central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39						c.(1018-1020)ggG>ggA		FK506 binding protein 9, 63 kDa							114.0	98.0	103.0					7																	33028245		2203	4300	6503	SO:0001819	synonymous_variant	11328				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:33028245G>A	AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"""EF-hand domain containing"""	3725	protein-coding gene	gene with protein product			"""FK506-binding protein 9 (63 kD)"""			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.1020G>A	7.37:g.33028245G>A			Somatic				FKBP9_ENST00000538443.1_Silent_p.G202G|FKBP9_ENST00000538336.1_Silent_p.G393G|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000490776.2_Silent_p.G108G|FKBP9_ENST00000489038.1_3'UTR	p.G340G	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	WXS	Illumina GAIIx	Phase_I	O95302	FKBP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0156)		6	1189	+			340			PPIase FKBP-type 3.		B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Silent	SNP	ENST00000242209.4	37	c.1020G>A	CCDS5439.1																																																																																				0.512	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270		12	16	0	0	0	1	0	12	16				
EIF1AX	1964	broad.mit.edu	37	X	20156713	20156713	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chrX:20156713C>T	ENST00000379607.5	-	2	247	c.44G>A	c.(43-45)gGt>gAt	p.G15D	snoU2_19_ENST00000364722.1_RNA|EIF1AX-AS1_ENST00000424026.1_RNA|snoU2-30_ENST00000365012.1_RNA|EIF1AX_ENST00000379593.1_Intron	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	15					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						CTCATTCTTACCCCTGCGTCT	0.308																																						ENST00000379607.5																			0				endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.(43-45)gGt>gAt		eukaryotic translation initiation factor 1A, X-linked							164.0	152.0	156.0					X																	20156713		2203	4300	6503	SO:0001583	missense	1964					cytosol	translation initiation factor activity	g.chrX:20156713C>T	L18960	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674			3250	protein-coding gene	gene with protein product		300186	"""eukaryotic translation initiation factor 1A, X chromosome"""	EIF4C, EIF1A		8106356, 9381176	Standard	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	P47813	OTTHUMG00000022704	ENST00000379607.5:c.44G>A	X.37:g.20156713C>T	ENSP00000368927:p.Gly15Asp		Somatic				EIF1AX_ENST00000379593.1_Intron	p.G15D	NM_001412.3	NP_001403.1	WXS	Illumina GAIIx	Phase_I	P47813	IF1AX_HUMAN			2	247	-			15					B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Missense_Mutation	SNP	ENST00000379607.5	37	c.44G>A	CCDS14196.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.551056	0.65311	.	.	ENSG00000173674	ENST00000379607	T	0.45276	0.9	4.94	4.94	0.65067	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.75953	0.3920	H	0.96175	3.78	0.80722	D	1	D	0.62365	0.991	D	0.74023	0.982	D	0.85102	0.0958	9	0.87932	D	0	-6.0481	17.661	0.88193	0.0:1.0:0.0:0.0	.	15	P47813	IF1AX_HUMAN	D	15	ENSP00000368927:G15D	ENSP00000368927:G15D	G	-	2	0	EIF1AX	20066634	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	7.237000	0.78164	2.187000	0.69744	0.600000	0.82982	GGT		0.308	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1			12	0	0	0	0	1	0	12	0				
LILRB5	10990	broad.mit.edu	37	19	54754843	54754843	+	Intron	SNP	A	A	G			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr19:54754843A>G	ENST00000316219.5	-	13	1734				CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000450632.1_Missense_Mutation_p.S598P	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607																																						ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1792-1794)Tcc>Ccc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5							43.0	42.0	42.0					19																	54754843		2191	4270	6461	SO:0001627	intron_variant	0				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54754843A>G	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1627-47T>C	19.37:g.54754843A>G			Somatic				LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron	p.S598P			WXS	Illumina GAIIx	Phase_I	O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	13	1869	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		423					Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.1792T>C	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	A	10.02	1.237390	0.22711	.	.	ENSG00000105609	ENST00000450632	T	0.00497	6.98	1.74	-0.656	0.11436	.	.	.	.	.	T	0.00328	0.0010	.	.	.	0.09310	N	1	B	0.24576	0.106	B	0.17433	0.018	T	0.45702	-0.9243	8	0.87932	D	0	.	1.6956	0.02861	0.475:0.0:0.2022:0.3228	.	598	C9JMK7	.	P	598	ENSP00000414225:S598P	ENSP00000414225:S598P	S	-	1	0	LILRB5	59446655	0.000000	0.05858	0.043000	0.18650	0.608000	0.37181	-0.873000	0.04214	-0.256000	0.09473	0.332000	0.21555	TCC		0.607	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			4	9	0	0	0	1	0	4	9				
SLC2A8	29988	broad.mit.edu	37	9	130169508	130169508	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr9:130169508G>A	ENST00000373371.3	+	10	1503	c.1414G>A	c.(1414-1416)Gcc>Acc	p.A472T	SLC2A8_ENST00000373360.3_3'UTR|SLC2A8_ENST00000373352.1_Missense_Mutation_p.A209T	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	472					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|male meiosis I (GO:0007141)|response to hypoxia (GO:0001666)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	glucose binding (GO:0005536)|glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						ACAAATCACAGCCCATTTTGA	0.557																																						ENST00000373371.3																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						c.(1414-1416)Gcc>Acc		solute carrier family 2 (facilitated glucose transporter), member 8							75.0	72.0	73.0					9																	130169508		2203	4300	6503	SO:0001583	missense	29988					cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity	g.chr9:130169508G>A	AJ245937	CCDS6870.1, CCDS65138.1, CCDS75903.1	9q33.3	2013-05-22	2008-09-02		ENSG00000136856	ENSG00000136856		"""Solute carriers"""	13812	protein-coding gene	gene with protein product		605245	"""solute carrier family 2 (facilitated glucose transporter) member 8"""			10671487, 10821868	Standard	NM_014580		Approved	GLUTX1, GLUT8	uc004bqu.4	Q9NY64	OTTHUMG00000020702	ENST00000373371.3:c.1414G>A	9.37:g.130169508G>A	ENSP00000362469:p.Ala472Thr		Somatic				SLC2A8_ENST00000373360.3_3'UTR|SLC2A8_ENST00000373352.1_Missense_Mutation_p.A209T	p.A472T	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	WXS	Illumina GAIIx	Phase_I	Q9NY64	GTR8_HUMAN			10	1503	+			472					Q8WUZ9|Q9NSC4	Missense_Mutation	SNP	ENST00000373371.3	37	c.1414G>A	CCDS6870.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.085018	0.76642	.	.	ENSG00000136856	ENST00000373371;ENST00000373352	T;T	0.74106	-0.81;-0.81	5.24	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.80166	0.4573	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74714	-0.3572	10	0.14656	T	0.56	.	12.1113	0.53840	0.0861:0.0:0.9139:0.0	.	472	Q9NY64	GTR8_HUMAN	T	472;209	ENSP00000362469:A472T;ENSP00000362450:A209T	ENSP00000362450:A209T	A	+	1	0	SLC2A8	129209329	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.167000	0.94773	2.445000	0.82738	0.655000	0.94253	GCC		0.557	SLC2A8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054177.1	NM_014580		24	27	0	0	0	1	0	24	27				
ARSD	414	broad.mit.edu	37	X	2825571	2825571	+	Missense_Mutation	SNP	A	A	G			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chrX:2825571A>G	ENST00000381154.1	-	10	1598	c.1523T>C	c.(1522-1524)gTg>gCg	p.V508A	ARSD-AS1_ENST00000414053.1_RNA	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	508					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTGATGGGTCACGCCCTCCCC	0.677																																						ENST00000381154.1																			0				large_intestine(3)|lung(3)	6						c.(1522-1524)gTg>gCg		arylsulfatase D							18.0	19.0	19.0					X																	2825571		2191	4288	6479	SO:0001583	missense	414					lysosome	arylsulfatase activity|metal ion binding	g.chrX:2825571A>G	X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"""Arylsulfatase family"""	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.1523T>C	X.37:g.2825571A>G	ENSP00000370546:p.Val508Ala		Somatic					p.V508A	NM_001669.3	NP_001660.2	WXS	Illumina GAIIx	Phase_I	P51689	ARSD_HUMAN			10	1598	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	508					Q9UHJ8	Missense_Mutation	SNP	ENST00000381154.1	37	c.1523T>C	CCDS35196.1	.	.	.	.	.	.	.	.	.	.	a	14.07	2.426690	0.43020	.	.	ENSG00000006756	ENST00000381154;ENST00000458014	D;D	0.94092	-3.35;-3.35	3.03	3.03	0.35002	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.64402	U	0.000003	D	0.96024	0.8705	M	0.83012	2.62	0.47819	D	0.999526	D	0.76494	0.999	D	0.70016	0.967	D	0.95553	0.8622	10	0.66056	D	0.02	.	10.7922	0.46440	1.0:0.0:0.0:0.0	.	508	P51689	ARSD_HUMAN	A	508;110	ENSP00000370546:V508A;ENSP00000409180:V110A	ENSP00000370546:V508A	V	-	2	0	ARSD	2835571	0.999000	0.42202	0.015000	0.15790	0.007000	0.05969	7.544000	0.82117	0.951000	0.37770	0.424000	0.28305	GTG		0.677	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			2	2	0	0	0	1	0	2	2				
IGHV1-46	28465	broad.mit.edu	37	14	106967230	106967230	+	RNA	SNP	C	C	T			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr14:106967230C>T	ENST00000390622.2	-	0	473									immunoglobulin heavy variable 1-46																		AGGGGCCTGTCGCACCCAGTG	0.557																																						ENST00000390622.2																			0																				132.0	125.0	128.0					14																	106967230		1939	4133	6072			0							g.chr14:106967230C>T	X92343		14q32.33	2012-02-08			ENSG00000211962	ENSG00000211962		"""Immunoglobulins / IGH locus"""	5554	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151963		14.37:g.106967230C>T			Somatic								WXS	Illumina GAIIx	Phase_I					0	473	-									RNA	SNP	ENST00000390622.2	37																																																																																						0.557	IGHV1-46-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324609.1	NG_001019		33	53	0	0	0	1	0	33	53				
GPR87	53836	broad.mit.edu	37	3	151012731	151012731	+	Missense_Mutation	SNP	A	A	C			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr3:151012731A>C	ENST00000260843.4	-	3	767	c.303T>G	c.(301-303)gaT>gaG	p.D101E	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	101					negative regulation of adenylate cyclase activity (GO:0007194)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAAATCCTGCATCATGGACTA	0.383																																						ENST00000260843.4																			0				endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19						c.(301-303)gaT>gaG		G protein-coupled receptor 87							132.0	131.0	131.0					3																	151012731		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:151012731A>C	AF237763	CCDS3157.1	3q24	2012-08-21			ENSG00000138271	ENSG00000138271		"""GPCR / Class A : Orphans"""	4538	protein-coding gene	gene with protein product		606379		GPR95		11273702	Standard	NM_023915		Approved		uc003eyt.2	Q9BY21	OTTHUMG00000159858	ENST00000260843.4:c.303T>G	3.37:g.151012731A>C	ENSP00000260843:p.Asp101Glu		Somatic				MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	p.D101E	NM_023915.3	NP_076404.3	WXS	Illumina GAIIx	Phase_I	Q9BY21	GPR87_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	767	-			101					Q5KU35|Q96JZ8|Q9BXC2	Missense_Mutation	SNP	ENST00000260843.4	37	c.303T>G	CCDS3157.1	.	.	.	.	.	.	.	.	.	.	A	16.95	3.263596	0.59431	.	.	ENSG00000138271	ENST00000260843	T	0.38240	1.15	5.31	-8.55	0.00908	GPCR, rhodopsin-like superfamily (1);	0.131721	0.49916	D	0.000132	T	0.38054	0.1026	M	0.80508	2.5	0.09310	N	0.99999	P	0.49447	0.924	P	0.47864	0.559	T	0.47262	-0.9131	10	0.23302	T	0.38	-4.0025	13.9406	0.64052	0.2591:0.0:0.6434:0.0975	.	101	Q9BY21	GPR87_HUMAN	E	101	ENSP00000260843:D101E	ENSP00000260843:D101E	D	-	3	2	GPR87	152495421	0.003000	0.15002	0.008000	0.14137	0.843000	0.47879	-0.922000	0.04004	-1.751000	0.01326	-0.290000	0.09829	GAT		0.383	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357788.1			19	27	0	0	0	1	0	19	27				
SETX	23064	broad.mit.edu	37	9	135163946	135163946	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr9:135163946G>A	ENST00000224140.5	-	16	6381	c.6199C>T	c.(6199-6201)Cac>Tac	p.H2067Y	SETX_ENST00000372169.2_Missense_Mutation_p.H2067Y|SETX_ENST00000393220.1_Missense_Mutation_p.H2067Y	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2067					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CTCATTCTGTGGTTTACTTGG	0.373																																						ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(6199-6201)Cac>Tac		senataxin							121.0	118.0	119.0					9																	135163946		2202	4300	6502	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135163946G>A	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.6199C>T	9.37:g.135163946G>A	ENSP00000224140:p.His2067Tyr		Somatic				SETX_ENST00000224140.5_Missense_Mutation_p.H2067Y|SETX_ENST00000393220.1_Missense_Mutation_p.H2067Y	p.H2067Y			WXS	Illumina GAIIx	Phase_I	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	16	6381	-		Myeloproliferative disorder(178;0.204)	2067					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.6199C>T	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.156871	0.78114	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61	5.35	4.44	0.53790	.	0.000000	0.64402	D	0.000001	D	0.89086	0.6615	M	0.65975	2.015	0.37277	D	0.907687	D;D;D	0.89917	0.957;1.0;0.999	D;D;D	0.87578	0.966;0.998;0.994	D	0.90900	0.4768	10	0.72032	D	0.01	.	12.5512	0.56227	0.0816:0.0:0.9184:0.0	.	2067;2067;2067	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	Y	2067;309;2067;2067	ENSP00000224140:H2067Y;ENSP00000409143:H309Y;ENSP00000361242:H2067Y;ENSP00000376913:H2067Y	ENSP00000224140:H2067Y	H	-	1	0	SETX	134153767	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.193000	0.50997	2.671000	0.90904	0.650000	0.86243	CAC		0.373	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		18	13	0	0	0	1	0	18	13				
NBEAL2	23218	broad.mit.edu	37	3	47041744	47041744	+	Silent	SNP	G	G	A			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr3:47041744G>A	ENST00000450053.3	+	27	4334	c.4155G>A	c.(4153-4155)caG>caA	p.Q1385Q	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Silent_p.Q1201Q	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1385					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CAGCCAGCCAGCCCGGCACTC	0.652																																						ENST00000450053.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(4153-4155)caG>caA		neurobeachin-like 2							39.0	45.0	43.0					3																	47041744		2102	4212	6314	SO:0001819	synonymous_variant	23218						binding	g.chr3:47041744G>A	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.4155G>A	3.37:g.47041744G>A			Somatic				NBEAL2_ENST00000292309.5_Silent_p.Q1201Q|NBEAL2_ENST00000383740.2_5'UTR	p.Q1385Q	NM_015175.2	NP_055990.1	WXS	Illumina GAIIx	Phase_I	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	27	4334	+		Acute lymphoblastic leukemia(5;0.0534)	1385					O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	37	c.4155G>A	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	G	5.485	0.274490	0.10403	.	.	ENSG00000160796	ENST00000416683	.	.	.	5.48	1.15	0.20763	.	.	.	.	.	T	0.57917	0.2086	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52056	-0.8626	4	.	.	.	.	9.8571	0.41092	0.3452:0.0:0.6548:0.0	.	.	.	.	N	673	.	.	S	+	2	0	NBEAL2	47016748	1.000000	0.71417	0.999000	0.59377	0.644000	0.38419	0.930000	0.28858	0.297000	0.22615	-0.258000	0.10820	AGC		0.652	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		17	13	0	0	0	1	0	17	13				
DHRS7B	25979	broad.mit.edu	37	17	21092103	21092103	+	Silent	SNP	C	C	T	rs577733383		TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr17:21092103C>T	ENST00000395511.3	+	6	1019	c.699C>T	c.(697-699)acC>acT	p.T233T	DHRS7B_ENST00000581463.1_Silent_p.T53T|DHRS7B_ENST00000579303.1_Silent_p.T218T	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	233						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						TTGAGGTGACCGTCATCAGCC	0.537																																						ENST00000395511.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						c.(697-699)acC>acT		dehydrogenase/reductase (SDR family) member 7B							133.0	109.0	117.0					17																	21092103		2203	4300	6503	SO:0001819	synonymous_variant	25979					integral to membrane|peroxisomal membrane	binding|oxidoreductase activity	g.chr17:21092103C>T	BC004126	CCDS11215.1	17p12	2011-09-20				ENSG00000109016		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	24547	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 32C, member 1"""					10810093, 11230166, 19027726	Standard	NM_015510		Approved	DKFZp566O084, MGC8916, CGI-93, SDR32C1	uc002gyo.3	Q6IAN0		ENST00000395511.3:c.699C>T	17.37:g.21092103C>T			Somatic				DHRS7B_ENST00000579303.1_Silent_p.T218T|DHRS7B_ENST00000581463.1_Silent_p.T53T	p.T233T	NM_015510.4	NP_056325.2	WXS	Illumina GAIIx	Phase_I	Q6IAN0	DRS7B_HUMAN			6	1019	+			233					B5MEF4|Q6UX59|Q9BTF9|Q9UFM6|Q9Y3A1	Silent	SNP	ENST00000395511.3	37	c.699C>T	CCDS11215.1																																																																																				0.537	DHRS7B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444066.3	NM_015510		31	40	0	0	0	1	0	31	40				
ASXL3	80816	broad.mit.edu	37	18	31323330	31323330	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr18:31323330C>T	ENST00000269197.5	+	12	3518	c.3518C>T	c.(3517-3519)gCc>gTc	p.A1173V		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1173					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AACAAGTCTGCCCACCTCCGG	0.443																																						ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(3517-3519)gCc>gTc		additional sex combs like 3 (Drosophila)							46.0	45.0	45.0					18																	31323330		1921	4137	6058	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31323330C>T	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.3518C>T	18.37:g.31323330C>T	ENSP00000269197:p.Ala1173Val		Somatic					p.A1173V	NM_030632.1	NP_085135.1	WXS	Illumina GAIIx	Phase_I	Q9C0F0	ASXL3_HUMAN			12	3518	+			1173					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.3518C>T	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	9.525	1.109348	0.20714	.	.	ENSG00000141431	ENST00000269197	T	0.51574	0.7	5.38	1.57	0.23409	.	2.345140	0.01510	N	0.017865	T	0.35711	0.0941	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.30937	-0.9961	10	0.41790	T	0.15	.	10.9295	0.47209	0.0:0.7583:0.0:0.2417	.	1173	Q9C0F0	ASXL3_HUMAN	V	1173	ENSP00000269197:A1173V	ENSP00000269197:A1173V	A	+	2	0	ASXL3	29577328	0.042000	0.20092	0.025000	0.17156	0.938000	0.57974	0.819000	0.27308	0.406000	0.25560	0.655000	0.94253	GCC		0.443	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			9	11	0	0	0	1	0	9	11				
TPTE2P6	374491	broad.mit.edu	37	13	25161397	25161397	+	RNA	SNP	C	C	G	rs3874227	byFrequency	TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr13:25161397C>G	ENST00000453498.1	+	0	921				TPTE2P6_ENST00000440905.1_RNA																							TGAAACATCTCTACAACTGGA	0.343																																						ENST00000453498.1																			0																																																			0							g.chr13:25161397C>G																													13.37:g.25161397C>G			Somatic				TPTE2P6_ENST00000440905.1_RNA				WXS	Illumina GAIIx	Phase_I					0	921	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.343	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			3	41	0	0	0	1	0	3	41				
UBR4	23352	broad.mit.edu	37	1	19492233	19492233	+	Silent	SNP	G	G	A	rs143052374		TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr1:19492233G>A	ENST00000375254.3	-	30	4155	c.4128C>T	c.(4126-4128)atC>atT	p.I1376I	UBR4_ENST00000375226.2_Silent_p.I1376I|UBR4_ENST00000375267.2_Silent_p.I1376I|UBR4_ENST00000375217.2_Silent_p.I1376I	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1376					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATTCCTCCAGGATGGATTCAT	0.433																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(4126-4128)atC>atT		ubiquitin protein ligase E3 component n-recognin 4		G		4,4402	9.9+/-24.2	0,4,2199	76.0	74.0	75.0		4128	4.8	1.0	1	dbSNP_134	75	0,8600		0,0,4300	no	coding-synonymous	UBR4	NM_020765.2		0,4,6499	AA,AG,GG		0.0,0.0908,0.0308		1376/5184	19492233	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19492233G>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.4128C>T	1.37:g.19492233G>A			Somatic				UBR4_ENST00000375254.3_Silent_p.I1376I|UBR4_ENST00000375217.2_Silent_p.I1376I|UBR4_ENST00000375226.2_Silent_p.I1376I	p.I1376I			WXS	Illumina GAIIx	Phase_I	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	30	4131	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	1376					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	c.4128C>T	CCDS189.1																																																																																				0.433	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		15	23	0	0	0	1	0	15	23				
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4				Dom	yes		9	9q21	2776	Mis	"""guanine nucleotide binding protein (G protein), q polypeptide"""			E			uveal melanoma		153	Substitution - Missense(153)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa		guanine nucleotide binding protein (G protein), q polypeptide							108.0	105.0	106.0					9																	80409488		2203	4300	6503	SO:0001583	missense	2776				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G		CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052			4390	protein-coding gene	gene with protein product		600998				8825633	Standard	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		Somatic				GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	WXS	Illumina GAIIx	Phase_I	P50148	GNAQ_HUMAN			5	848	-			209					O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	GNAQ	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1	NM_002072		35	41	0	0	0	1	0	35	41				
SLC26A5	375611	broad.mit.edu	37	7	103050935	103050935	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr7:103050935C>T	ENST00000306312.3	-	7	893	c.632G>A	c.(631-633)cGt>cAt	p.R211H	SLC26A5_ENST00000356767.4_Missense_Mutation_p.R211H|SLC26A5_ENST00000393735.2_Missense_Mutation_p.R211H|SLC26A5_ENST00000393729.1_Missense_Mutation_p.R174H|SLC26A5_ENST00000432958.2_Missense_Mutation_p.R211H|SLC26A5_ENST00000339444.6_Missense_Mutation_p.R211H|SLC26A5_ENST00000393730.1_Missense_Mutation_p.R211H|SLC26A5_ENST00000393727.1_Missense_Mutation_p.R211H|SLC26A5_ENST00000354356.4_De_novo_Start_OutOfFrame|SLC26A5_ENST00000393723.1_Missense_Mutation_p.R211H	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	211					regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GGTAAACCCACGGACCAGAGG	0.413																																						ENST00000354356.4																			0				endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43								solute carrier family 26 (anion exchanger), member 5							70.0	69.0	69.0					7																	103050935		2203	4300	6503	SO:0001583	missense	375611				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	g.chr7:103050935C>T	AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"""Solute carriers"""	9359	protein-coding gene	gene with protein product	"""deafness, neurosensory, autosomal recessive, 61"""	604943	"""prestin (motor protein)"""	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.632G>A	7.37:g.103050935C>T	ENSP00000304783:p.Arg211His		Somatic				SLC26A5_ENST00000393723.1_Missense_Mutation_p.R211H|SLC26A5_ENST00000393729.1_Missense_Mutation_p.R174H|SLC26A5_ENST00000393727.1_Missense_Mutation_p.R211H|SLC26A5_ENST00000356767.4_Missense_Mutation_p.R211H|SLC26A5_ENST00000393735.2_Missense_Mutation_p.R211H|SLC26A5_ENST00000393730.1_Missense_Mutation_p.R211H|SLC26A5_ENST00000432958.2_Missense_Mutation_p.R211H|SLC26A5_ENST00000339444.6_Missense_Mutation_p.R211H|SLC26A5_ENST00000306312.3_Missense_Mutation_p.R211H				WXS	Illumina GAIIx	Phase_I	P58743	S26A5_HUMAN			0	798	-								Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Translation_Start_Site	SNP	ENST00000306312.3	37		CCDS5733.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553733	0.86231	.	.	ENSG00000170615	ENST00000339444;ENST00000356767;ENST00000393735;ENST00000306312;ENST00000393730;ENST00000432958;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D;D;D	0.92858	-3.12;-3.12;-3.12;-3.12;-3.12;-3.12;-3.12;-3.12;-3.12	5.72	5.72	0.89469	Sulphate transporter (1);	0.000000	0.85682	D	0.000000	D	0.95987	0.8693	M	0.78637	2.42	0.80722	D	1	P;D;P;D;D	0.76494	0.909;0.999;0.733;0.996;0.997	P;D;P;P;P	0.66497	0.634;0.944;0.501;0.839;0.907	D	0.95899	0.8913	10	0.72032	D	0.01	.	19.885	0.96909	0.0:1.0:0.0:0.0	.	211;211;211;211;211	P58743;Q496J2;P58743-4;P58743-3;P58743-2	S26A5_HUMAN;.;.;.;.	H	211;211;211;211;211;211;174;211;211	ENSP00000342396:R211H;ENSP00000349210:R211H;ENSP00000377336:R211H;ENSP00000304783:R211H;ENSP00000377331:R211H;ENSP00000389733:R211H;ENSP00000377330:R174H;ENSP00000377328:R211H;ENSP00000377324:R211H	ENSP00000304783:R211H	R	-	2	0	SLC26A5	102838171	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.667000	0.68067	2.708000	0.92522	0.591000	0.81541	CGT		0.413	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999		11	12	0	0	0	1	0	11	12				
PPP1R3A	5506	broad.mit.edu	37	7	113519490	113519490	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr7:113519490C>T	ENST00000284601.3	-	4	1725	c.1657G>A	c.(1657-1659)Gca>Aca	p.A553T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	553					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CCAATCCCTGCCACACTTATT	0.418																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(1657-1659)Gca>Aca		protein phosphatase 1, regulatory subunit 3A							103.0	96.0	98.0					7																	113519490		2203	4300	6503	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113519490C>T	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1657G>A	7.37:g.113519490C>T	ENSP00000284601:p.Ala553Thr		Somatic					p.A553T	NM_002711.3	NP_002702.2	WXS	Illumina GAIIx	Phase_I	Q16821	PPR3A_HUMAN			4	1725	-			553					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.1657G>A	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.994753	0.35226	.	.	ENSG00000154415	ENST00000284601	T	0.16597	2.33	5.72	3.89	0.44902	.	0.804958	0.11529	N	0.554903	T	0.09379	0.0231	N	0.14661	0.345	0.09310	N	1	B	0.17667	0.023	B	0.12837	0.008	T	0.21724	-1.0237	10	0.36615	T	0.2	-0.4916	4.5998	0.12348	0.167:0.5848:0.0:0.2482	.	553	Q16821	PPR3A_HUMAN	T	553	ENSP00000284601:A553T	ENSP00000284601:A553T	A	-	1	0	PPP1R3A	113306726	0.000000	0.05858	0.029000	0.17559	0.019000	0.09904	0.631000	0.24568	1.554000	0.49487	0.655000	0.94253	GCA		0.418	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		18	34	0	0	0	1	0	18	34				
PLD2	5338	broad.mit.edu	37	17	4722777	4722777	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr17:4722777G>A	ENST00000263088.6	+	23	2493	c.2362G>A	c.(2362-2364)Gcc>Acc	p.A788T	PLD2_ENST00000572940.1_Missense_Mutation_p.A788T	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	788	Catalytic.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	CAGTGAGCTGGCCGTGCTGAT	0.607																																						ENST00000263088.6																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(2362-2364)Gcc>Acc		phospholipase D2	Choline(DB00122)						100.0	74.0	83.0					17																	4722777		2203	4300	6503	SO:0001583	missense	5338				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr17:4722777G>A	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"""choline phosphatase 2"""	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.2362G>A	17.37:g.4722777G>A	ENSP00000263088:p.Ala788Thr		Somatic				PLD2_ENST00000572940.1_Missense_Mutation_p.A788T	p.A788T	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	WXS	Illumina GAIIx	Phase_I	O14939	PLD2_HUMAN			23	2493	+			788			Catalytic.		I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Missense_Mutation	SNP	ENST00000263088.6	37	c.2362G>A	CCDS11057.1	.	.	.	.	.	.	.	.	.	.	G	34	5.336125	0.95758	.	.	ENSG00000129219	ENST00000263088	T	0.23552	1.9	4.41	4.41	0.53225	.	0.060781	0.64402	D	0.000004	T	0.58764	0.2145	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.69289	-0.5184	10	0.72032	D	0.01	-7.6039	14.5126	0.67797	0.0:0.0:1.0:0.0	.	788;788	O14939-2;O14939	.;PLD2_HUMAN	T	788	ENSP00000263088:A788T	ENSP00000263088:A788T	A	+	1	0	PLD2	4669743	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.147000	0.94646	2.294000	0.77228	0.563000	0.77884	GCC		0.607	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663		7	5	0	0	0	1	0	7	5				
CEP95	90799	broad.mit.edu	37	17	62530713	62530713	+	Missense_Mutation	SNP	A	A	C	rs185494775		TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr17:62530713A>C	ENST00000556440.2	+	17	2438	c.1928A>C	c.(1927-1929)aAg>aCg	p.K643T	CEP95_ENST00000553412.1_Missense_Mutation_p.K479T	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	643						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						CAAGACTTCAAGGACTGCATT	0.438																																						ENST00000556440.2																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						c.(1927-1929)aAg>aCg		centrosomal protein 95kDa							74.0	73.0	74.0					17																	62530713		1935	4143	6078	SO:0001583	missense	90799					centrosome|spindle pole	protein binding	g.chr17:62530713A>C	AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"""coiled-coil domain containing 45"""	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.1928A>C	17.37:g.62530713A>C	ENSP00000450461:p.Lys643Thr		Somatic				CEP95_ENST00000553412.1_Missense_Mutation_p.K479T	p.K643T	NM_138363.1	NP_612372.1	WXS	Illumina GAIIx	Phase_I	Q96GE4	CEP95_HUMAN			17	2438	+			643					B4DMD2|Q96M81	Missense_Mutation	SNP	ENST00000556440.2	37	c.1928A>C	CCDS45763.1	.	.	.	.	.	.	.	.	.	.	A	17.10	3.303703	0.60305	.	.	ENSG00000258890	ENST00000553956;ENST00000556440;ENST00000553412	T;T	0.45276	0.97;0.9	5.75	4.65	0.58169	.	0.194559	0.53938	D	0.000058	T	0.49287	0.1548	M	0.62723	1.935	0.34727	D	0.729379	D;D	0.55800	0.973;0.973	P;P	0.51657	0.559;0.676	T	0.64723	-0.6340	10	0.72032	D	0.01	-10.2392	9.4469	0.38703	0.8611:0.0:0.1389:0.0	.	643;643	A8K3H2;Q96GE4	.;CEP95_HUMAN	T	578;643;479	ENSP00000450461:K643T;ENSP00000450906:K479T	ENSP00000438458:K578T	K	+	2	0	CEP95	59961175	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	1.783000	0.38664	1.057000	0.40506	0.528000	0.53228	AAG		0.438	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445100.2	NM_138363		8	15	0	0	0	1	0	8	15				
TP63	8626	broad.mit.edu	37	3	189582119	189582119	+	Silent	SNP	C	C	T	rs61732782	byFrequency	TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr3:189582119C>T	ENST00000264731.3	+	5	767	c.678C>T	c.(676-678)cgC>cgT	p.R226R	TP63_ENST00000354600.5_Silent_p.R132R|TP63_ENST00000392461.3_Silent_p.R132R|TP63_ENST00000440651.2_Silent_p.R226R|TP63_ENST00000320472.5_Silent_p.R226R|TP63_ENST00000456148.1_Silent_p.R132R|TP63_ENST00000392460.3_Silent_p.R226R|TP63_ENST00000392463.2_Silent_p.R132R|TP63_ENST00000382063.4_Silent_p.R141R|TP63_ENST00000418709.2_Silent_p.R226R|TP63_ENST00000449992.1_Silent_p.R47R|TP63_ENST00000437221.1_Silent_p.R132R	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	226					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CTGTTATCCGCGCCATGCCTG	0.517										HNSCC(45;0.13)																												ENST00000264731.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61						c.(676-678)cgC>cgT		tumor protein p63		C	,,,,,	2,4404	4.2+/-10.8	0,2,2201	126.0	123.0	124.0		678,678,396,396,396,678	-0.6	1.0	3	dbSNP_129	124	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TP63	NM_001114978.1,NM_001114979.1,NM_001114980.1,NM_001114981.1,NM_001114982.1,NM_003722.4	,,,,,	0,7,6496	TT,TC,CC		0.0581,0.0454,0.0538	,,,,,	226/556,226/488,132/587,132/462,132/394,226/681	189582119	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	8626				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189582119C>T	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.678C>T	3.37:g.189582119C>T		HNSCC(45;0.13)	Somatic				TP63_ENST00000440651.2_Silent_p.R226R|TP63_ENST00000449992.1_Silent_p.R47R|TP63_ENST00000392460.3_Silent_p.R226R|TP63_ENST00000437221.1_Silent_p.R132R|TP63_ENST00000392461.3_Silent_p.R132R|TP63_ENST00000456148.1_Silent_p.R132R|TP63_ENST00000382063.4_Silent_p.R141R|TP63_ENST00000392463.2_Silent_p.R132R|TP63_ENST00000354600.5_Silent_p.R132R|TP63_ENST00000418709.2_Silent_p.R226R|TP63_ENST00000320472.5_Silent_p.R226R	p.R226R	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	WXS	Illumina GAIIx	Phase_I	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	5	767	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		226					O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Silent	SNP	ENST00000264731.3	37	c.678C>T	CCDS3293.1																																																																																				0.517	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		23	28	0	0	0	1	0	23	28				
LINC00482	284185	broad.mit.edu	37	17	79278931	79278931	+	lincRNA	DEL	G	G	-			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr17:79278931delG	ENST00000332012.5	-	0	662					NR_038080.1		Q8N8I6	CQ055_HUMAN	long intergenic non-protein coding RNA 482																		GTGCCTTCGAGGGCCTGGTTG	0.667																																						ENST00000332012.5																			0																				15.0	16.0	15.0					17																	79278931		2026	4186	6212			0							g.chr17:79278931delG	AK096740		17q25.3	2012-10-12	2011-09-01	2011-09-01	ENSG00000185168	ENSG00000185168		"""Long non-coding RNAs"""	26816	non-coding RNA	RNA, long non-coding			"""chromosome 17 open reading frame 55"""	C17orf55			Standard	NR_038080		Approved	FLJ39421	uc002kac.1	Q8N8I6			17.37:g.79278931delG			Somatic						NR_038080.1		WXS	Illumina GAIIx	Phase_I					0	662	-									RNA	DEL	ENST00000332012.5	37																																																																																						0.667	LINC00482-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000439605.1	NM_178519		2	4						2	4	---	---	---	---
