#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
TBX6	6911	broad.mit.edu	37	16	30099934	30099934	+	Missense_Mutation	SNP	G	G	C			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr16:30099934G>C	ENST00000395224.2	-	6	830	c.771C>G	c.(769-771)atC>atG	p.I257M	TBX6_ENST00000279386.2_Missense_Mutation_p.I257M|TBX6_ENST00000553607.1_Missense_Mutation_p.I257M	NM_004608.3	NP_004599.2	O95947	TBX6_HUMAN	T-box 6	257					anatomical structure morphogenesis (GO:0009653)|cell fate specification (GO:0001708)|mesoderm development (GO:0007498)|mesoderm formation (GO:0001707)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						TCAGTTGTGTGATCTGGGGAC	0.542																																						ENST00000553607.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						c.(769-771)atC>atG		T-box 6							144.0	139.0	141.0					16																	30099934		2197	4300	6497	SO:0001583	missense	6911				anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:30099934G>C	AJ007989	CCDS10670.1	16p11.2	2008-02-05			ENSG00000149922	ENSG00000149922		"""T-boxes"""	11605	protein-coding gene	gene with protein product		602427				9888994, 9933572	Standard	NM_004608		Approved		uc010veh.2	O95947	OTTHUMG00000132115	ENST00000395224.2:c.771C>G	16.37:g.30099934G>C	ENSP00000378650:p.Ile257Met		Somatic				TBX6_ENST00000395224.2_Missense_Mutation_p.I257M|TBX6_ENST00000279386.2_Missense_Mutation_p.I257M	p.I257M			WXS	Illumina GAIIx	Phase_I	O95947	TBX6_HUMAN			5	1464	-			257					Q8TAS4|Q9HA44	Missense_Mutation	SNP	ENST00000395224.2	37	c.771C>G	CCDS10670.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635402	0.87760	.	.	ENSG00000149922	ENST00000395224;ENST00000279386;ENST00000553607	D;D;D	0.91068	-2.78;-2.78;-2.78	5.95	5.95	0.96441	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.95850	0.8649	M	0.83603	2.65	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.999;0.999	D	0.95770	0.8808	10	0.87932	D	0	.	19.1503	0.93485	0.0:0.0:1.0:0.0	.	257;257	O95947;Q9HA44	TBX6_HUMAN;.	M	257	ENSP00000378650:I257M;ENSP00000279386:I257M;ENSP00000461223:I257M	ENSP00000279386:I257M	I	-	3	3	TBX6	30007435	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.596000	0.67570	2.826000	0.97356	0.563000	0.77884	ATC		0.542	TBX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255157.2	NM_004608, NM_080758		42	48	0	0	0	1	0	42	48				
PRRC2B	84726	broad.mit.edu	37	9	134350898	134350898	+	Missense_Mutation	SNP	C	C	T	rs559310957		TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr9:134350898C>T	ENST00000357304.4	+	15	3437	c.3382C>T	c.(3382-3384)Cgg>Tgg	p.R1128W	PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1128							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CAAGCCCCGACGGAGAGTTGC	0.672													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14338	0.0		0.0	False		,,,				2504	0.0					ENST00000357304.4																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						c.(3382-3384)Cgg>Tgg		proline-rich coiled-coil 2B							12.0	14.0	13.0					9																	134350898		1905	4081	5986	SO:0001583	missense	84726						protein binding	g.chr9:134350898C>T	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.3382C>T	9.37:g.134350898C>T	ENSP00000349856:p.Arg1128Trp		Somatic				PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron	p.R1128W	NM_013318.3	NP_037450.2	WXS	Illumina GAIIx	Phase_I	Q5JSZ5	PRC2B_HUMAN			15	3437	+			1128					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	c.3382C>T	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.711147	0.48517	.	.	ENSG00000130723	ENST00000357304;ENST00000418650	T	0.28895	1.59	5.82	5.82	0.92795	.	.	.	.	.	T	0.50956	0.1646	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.39643	-0.9604	8	.	.	.	.	13.9723	0.64250	0.1514:0.8486:0.0:0.0	.	424;1128	Q5H9R5;Q5JSZ5	.;PRC2B_HUMAN	W	1128;424	ENSP00000349856:R1128W	.	R	+	1	2	PRRC2B	133340719	0.994000	0.37717	0.997000	0.53966	0.276000	0.26787	0.882000	0.28186	2.756000	0.94617	0.561000	0.74099	CGG		0.672	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				4	12	0	0	0	1	0	4	12				
KRT79	338785	broad.mit.edu	37	12	53216887	53216887	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr12:53216887C>T	ENST00000330553.5	-	7	1314	c.1280G>A	c.(1279-1281)cGt>cAt	p.R427H		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	427	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTGGTAGTCACGCAGCAGCCG	0.617																																						ENST00000330553.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1279-1281)cGt>cAt		keratin 79							95.0	87.0	89.0					12																	53216887		2203	4300	6503	SO:0001583	missense	338785					keratin filament	structural molecule activity	g.chr12:53216887C>T	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28930	protein-coding gene	gene with protein product	"""keratin 6-like"""	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.1280G>A	12.37:g.53216887C>T	ENSP00000328358:p.Arg427His		Somatic					p.R427H	NM_175834.2	NP_787028.1	WXS	Illumina GAIIx	Phase_I	Q5XKE5	K2C79_HUMAN			7	1314	-			427			Coil 2.|Rod.		Q6P465|Q7Z793	Missense_Mutation	SNP	ENST00000330553.5	37	c.1280G>A	CCDS8839.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.182379	0.38511	.	.	ENSG00000185640	ENST00000330553;ENST00000549255	D;D	0.89810	-2.57;-2.57	3.92	2.1	0.27182	Filament (1);	0.000000	0.44902	D	0.000418	D	0.85737	0.5766	M	0.75150	2.29	0.34666	D	0.723239	P	0.38148	0.62	B	0.37387	0.248	D	0.85802	0.1374	10	0.72032	D	0.01	.	5.2249	0.15389	0.1628:0.6584:0.0:0.1788	.	427	Q5XKE5	K2C79_HUMAN	H	427;13	ENSP00000328358:R427H;ENSP00000449159:R13H	ENSP00000328358:R427H	R	-	2	0	KRT79	51503154	0.002000	0.14202	0.072000	0.20136	0.078000	0.17371	1.184000	0.32053	0.623000	0.30267	-0.263000	0.10527	CGT		0.617	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834		13	17	0	0	0	1	0	13	17				
SNAP91	9892	broad.mit.edu	37	6	84291979	84291979	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr6:84291979G>A	ENST00000439399.2	-	23	2427	c.2111C>T	c.(2110-2112)aCg>aTg	p.T704M	SNAP91_ENST00000521485.1_Missense_Mutation_p.T704M|SNAP91_ENST00000437520.1_Missense_Mutation_p.T397M|SNAP91_ENST00000369694.2_Missense_Mutation_p.T704M|SNAP91_ENST00000428679.2_Missense_Mutation_p.T704M|SNAP91_ENST00000521743.1_Missense_Mutation_p.T704M|SNAP91_ENST00000520302.1_Missense_Mutation_p.T674M|SNAP91_ENST00000195649.6_Missense_Mutation_p.T704M|SNAP91_ENST00000519133.1_5'Flank|SNAP91_ENST00000520213.1_Missense_Mutation_p.T397M	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	704					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		AGTTGAAGGCGTTGTCCCAAA	0.468																																						ENST00000428679.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(2110-2112)aCg>aTg		synaptosomal-associated protein, 91kDa							86.0	88.0	87.0					6																	84291979		1979	4179	6158	SO:0001583	missense	9892				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84291979G>A	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.2111C>T	6.37:g.84291979G>A	ENSP00000400459:p.Thr704Met		Somatic				SNAP91_ENST00000369694.2_Missense_Mutation_p.T704M|SNAP91_ENST00000520213.1_Missense_Mutation_p.T397M|SNAP91_ENST00000439399.2_Missense_Mutation_p.T704M|SNAP91_ENST00000195649.6_Missense_Mutation_p.T704M|SNAP91_ENST00000521485.1_Missense_Mutation_p.T704M|SNAP91_ENST00000437520.1_Missense_Mutation_p.T397M|SNAP91_ENST00000520302.1_Missense_Mutation_p.T674M|SNAP91_ENST00000521743.1_Missense_Mutation_p.T704M	p.T704M			WXS	Illumina GAIIx	Phase_I	O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	23	2704	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	704					A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	ENST00000439399.2	37	c.2111C>T	CCDS47455.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.022845	0.75275	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000523448;ENST00000521931	T;T;T;T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.43	5.43	0.79202	.	0.348037	0.30159	N	0.010276	T	0.27629	0.0679	N	0.19112	0.55	0.24748	N	0.992998	P;D;D;D;D	0.89917	0.923;1.0;1.0;1.0;1.0	B;D;D;P;D	0.71870	0.198;0.975;0.964;0.904;0.964	T	0.15723	-1.0427	10	0.87932	D	0	-5.1581	14.1174	0.65164	0.0:0.0:0.8498:0.1502	.	585;397;674;704;702	B7Z2N2;O60641-3;E5RI02;O60641;E1P549	.;.;.;AP180_HUMAN;.	M	704;704;704;704;704;397;674;704;397;45;517	ENSP00000429776:T704M;ENSP00000358708:T704M;ENSP00000400459:T704M;ENSP00000195649:T704M;ENSP00000412492:T704M;ENSP00000413277:T397M;ENSP00000428511:T674M;ENSP00000428215:T704M;ENSP00000428026:T397M;ENSP00000430255:T45M;ENSP00000430071:T517M	ENSP00000195649:T704M	T	-	2	0	SNAP91	84348698	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.315000	0.65810	2.564000	0.86499	0.561000	0.74099	ACG		0.468	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1			17	27	0	0	0	1	0	17	27				
GOLGA4	2803	broad.mit.edu	37	3	37368986	37368986	+	Missense_Mutation	SNP	A	A	C			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr3:37368986A>C	ENST00000361924.2	+	14	5983	c.5609A>C	c.(5608-5610)cAt>cCt	p.H1870P	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.H1892P	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1870	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AAAGAAGTACATAGAGTTGAA	0.383																																						ENST00000361924.2																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(5608-5610)cAt>cCt		golgin A4							57.0	59.0	58.0					3																	37368986		2203	4299	6502	SO:0001583	missense	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37368986A>C	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.5609A>C	3.37:g.37368986A>C	ENSP00000354486:p.His1870Pro		Somatic				GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.H1892P	p.H1870P	NM_002078.4	NP_002069.2	WXS	Illumina GAIIx	Phase_I	Q13439	GOGA4_HUMAN			14	5983	+			1870			Glu-rich.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.5609A>C	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	A	9.519	1.107829	0.20714	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.23754	1.9;1.89;1.89	5.11	2.58	0.30949	.	0.000000	0.34932	N	0.003568	T	0.22282	0.0537	L	0.57536	1.79	0.09310	N	1	B;B;B;B	0.28820	0.224;0.125;0.063;0.021	B;B;B;B	0.28991	0.097;0.054;0.027;0.007	T	0.09292	-1.0681	10	0.30854	T	0.27	.	8.0355	0.30491	0.672:0.1144:0.0:0.2136	.	1870;1870;1892;1870	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	P	1870;1892;1741	ENSP00000354486:H1870P;ENSP00000349305:H1892P;ENSP00000405842:H1741P	ENSP00000349305:H1892P	H	+	2	0	GOLGA4	37343990	0.001000	0.12720	0.305000	0.25099	0.963000	0.63663	0.532000	0.23067	1.931000	0.55961	0.448000	0.29417	CAT		0.383	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		24	9	0	0	0	1	0	24	9				
PTPMT1	114971	broad.mit.edu	37	11	47591272	47591272	+	Silent	SNP	C	C	T			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr11:47591272C>T	ENST00000326674.9	+	3	298	c.276C>T	c.(274-276)gtC>gtT	p.V92V	PTPMT1_ENST00000527079.2_3'UTR|PTPMT1_ENST00000426530.2_Intron|PTPMT1_ENST00000534775.1_Nonsense_Mutation_p.R129*|PTPMT1_ENST00000326656.8_Intron|NDUFS3_ENST00000533507.1_Intron	NM_175732.2	NP_783859.1	Q8WUK0	PTPM1_HUMAN	protein tyrosine phosphatase, mitochondrial 1	92					cardiolipin biosynthetic process (GO:0032049)|glycerophospholipid biosynthetic process (GO:0046474)|inositol phosphate dephosphorylation (GO:0046855)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatidylglycerophosphatase activity (GO:0008962)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	6						GACTAGGAGTCGAGCAGCTGC	0.522																																						ENST00000534775.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	6						c.(385-387)Cga>Tga		protein tyrosine phosphatase, mitochondrial 1							64.0	66.0	65.0					11																	47591272		1966	4167	6133	SO:0001819	synonymous_variant	114971				inositol phosphate dephosphorylation	mitochondrial inner membrane	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:47591272C>T	BC014048	CCDS41643.1, CCDS44593.1	11p11.2	2011-06-09			ENSG00000110536	ENSG00000110536	3.1.3.36	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	26965	protein-coding gene	gene with protein product		609538				12477932	Standard	NM_175732		Approved	PLIP, DUSP23, MOSP	uc001nfs.4	Q8WUK0	OTTHUMG00000166892	ENST00000326674.9:c.276C>T	11.37:g.47591272C>T			Somatic				PTPMT1_ENST00000527079.2_3'UTR|PTPMT1_ENST00000326656.8_Intron|PTPMT1_ENST00000426530.2_Intron|NDUFS3_ENST00000533507.1_Intron|PTPMT1_ENST00000326674.9_Silent_p.V92V	p.R129*			WXS	Illumina GAIIx	Phase_I	Q8WUK0	PTPM1_HUMAN			2	550	+			0			Tyrosine-protein phosphatase.		E9PAT8|Q7Z557|Q96CR2|Q9BXV8	Nonsense_Mutation	SNP	ENST00000326674.9	37	c.385C>T	CCDS41643.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.111195	0.56398	.	.	ENSG00000110536	ENST00000534775	.	.	.	5.2	-10.4	0.00318	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.8019	5.9036	0.18980	0.1222:0.3998:0.3765:0.1016	.	.	.	.	X	129	.	ENSP00000436160:R129X	R	+	1	2	PTPMT1	47547848	0.007000	0.16637	0.438000	0.26821	0.935000	0.57460	-1.465000	0.02357	-2.418000	0.00566	-0.379000	0.06801	CGA		0.522	PTPMT1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391746.1	XM_374879		10	15	0	0	0	1	0	10	15				
BAGE2	85319	broad.mit.edu	37	21	11058340	11058340	+	RNA	SNP	A	A	C	rs28617310	byFrequency	TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr21:11058340A>C	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGGGTAAAGGAGAGAAATCTC	0.363													a|||	41	0.0081869	0.0136	0.0014	5008	,	,		64928	0.002		0.005	False		,,,				2504	0.0153					ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11058340A>C	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058340A>C			Somatic								WXS	Illumina GAIIx	Phase_I			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.363	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		8	145	0	0	0	1	0	8	145				
CD4	920	broad.mit.edu	37	12	6923368	6923368	+	Missense_Mutation	SNP	T	T	C			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr12:6923368T>C	ENST00000011653.4	+	4	533	c.275T>C	c.(274-276)tTt>tCt	p.F92S	CD4_ENST00000541982.1_Missense_Mutation_p.F37S|CD4_ENST00000538827.1_3'UTR	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	92	Ig-like V-type.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	CAAGGAAACTTTCCCCTGATC	0.498																																						ENST00000011653.4																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23						c.(274-276)tTt>tCt		CD4 molecule							141.0	137.0	138.0					12																	6923368		2203	4300	6503	SO:0001583	missense	920				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	g.chr12:6923368T>C	M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.275T>C	12.37:g.6923368T>C	ENSP00000011653:p.Phe92Ser		Somatic				CD4_ENST00000541982.1_Missense_Mutation_p.F37S|CD4_ENST00000538827.1_3'UTR	p.F92S	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	WXS	Illumina GAIIx	Phase_I	P01730	CD4_HUMAN			4	533	+		Myeloproliferative disorder(1001;0.0122)	92			Ig-like V-type.		B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Missense_Mutation	SNP	ENST00000011653.4	37	c.275T>C	CCDS8562.1	.	.	.	.	.	.	.	.	.	.	T	14.35	2.510235	0.44660	.	.	ENSG00000010610	ENST00000011653;ENST00000541982	T;T	0.68765	-0.35;-0.35	5.32	5.32	0.75619	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.861493	0.10180	N	0.705942	T	0.79975	0.4539	M	0.64260	1.97	0.37698	D	0.924097	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77838	-0.2439	10	0.66056	D	0.02	1.5086	11.6738	0.51417	0.0:0.0:0.0:1.0	.	37;92	F5H480;P01730	.;CD4_HUMAN	S	92;37	ENSP00000011653:F92S;ENSP00000445167:F37S	ENSP00000011653:F92S	F	+	2	0	CD4	6793629	0.684000	0.27642	0.077000	0.20336	0.005000	0.04900	1.456000	0.35201	2.012000	0.59069	0.379000	0.24179	TTT		0.498	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616		37	37	0	0	0	1	0	37	37				
ERMARD	55780	broad.mit.edu	37	6	170176103	170176103	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr6:170176103C>T	ENST00000366773.3	+	15	1495	c.1462C>T	c.(1462-1464)Cac>Tac	p.H488Y	ERMARD_ENST00000418781.3_Missense_Mutation_p.H488Y|ERMARD_ENST00000366772.2_Missense_Mutation_p.H488Y|ERMARD_ENST00000392095.4_Missense_Mutation_p.H362Y|ERMARD_ENST00000588451.1_Missense_Mutation_p.H352Y	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	488					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											TGAGCTGTATCACCATATGCC	0.378																																						ENST00000588451.1																			0											c.(1054-1056)Cac>Tac		ER membrane-associated RNA degradation							154.0	129.0	137.0					6																	170176103		2203	4300	6503	SO:0001583	missense	55780							g.chr6:170176103C>T	AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"""chromosome 6 open reading frame 70"""	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.1462C>T	6.37:g.170176103C>T	ENSP00000355735:p.His488Tyr		Somatic				ERMARD_ENST00000392095.4_Missense_Mutation_p.H362Y|ERMARD_ENST00000366773.3_Missense_Mutation_p.H488Y|ERMARD_ENST00000418781.3_Missense_Mutation_p.H488Y|ERMARD_ENST00000366772.2_Missense_Mutation_p.H488Y	p.H352Y			WXS	Illumina GAIIx	Phase_I					14	1567	+			488					B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	ENST00000366773.3	37	c.1054C>T	CCDS34576.1	.	.	.	.	.	.	.	.	.	.	.	3.195	-0.165006	0.06502	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781;ENST00000392095;ENST00000366771	T;T	0.44482	0.93;0.92	5.27	2.37	0.29283	.	1.069390	0.07104	N	0.841062	T	0.14830	0.0358	L	0.53249	1.67	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.003;0.0	T	0.33929	-0.9849	10	0.10636	T	0.68	.	7.6556	0.28373	0.0:0.6445:0.0:0.3555	.	488;488;488	Q5T6L9-3;Q5T6L9-2;Q5T6L9	.;.;CF070_HUMAN	Y	488;488;488;362;136	ENSP00000355735:H488Y;ENSP00000375945:H362Y	ENSP00000355733:H136Y	H	+	1	0	C6orf70	169918028	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.580000	0.05827	0.669000	0.31146	0.558000	0.71614	CAC		0.378	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341		22	27	0	0	0	1	0	22	27				
CACNA2D1	781	broad.mit.edu	37	7	81978919	81978919	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr7:81978919C>T	ENST00000356253.5	-	2	397	c.142G>A	c.(142-144)Gca>Aca	p.A48T	CACNA2D1_ENST00000423588.1_Missense_Mutation_p.A48T|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.A48T			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	48					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.A48S(2)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	GCTGTTTTTGCCAGTGTGACA	0.358																																						ENST00000356860.3																			2	Substitution - Missense(2)	p.A48S(2)	lung(2)	breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(142-144)Gca>Aca		calcium channel, voltage-dependent, alpha 2/delta subunit 1	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						210.0	194.0	199.0					7																	81978919		2203	4300	6503	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81978919C>T	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.142G>A	7.37:g.81978919C>T	ENSP00000348589:p.Ala48Thr		Somatic				CACNA2D1_ENST00000356253.5_Missense_Mutation_p.A48T|CACNA2D1_ENST00000423588.1_Missense_Mutation_p.A48T	p.A48T	NM_000722.2	NP_000713.2	WXS	Illumina GAIIx	Phase_I	P54289	CA2D1_HUMAN			2	480	-			48					Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.142G>A		.	.	.	.	.	.	.	.	.	.	C	17.05	3.289623	0.59976	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000423588	T;T;T	0.24908	3.15;3.15;1.83	6.01	6.01	0.97437	.	0.000000	0.64402	D	0.000001	T	0.31765	0.0807	L	0.56769	1.78	0.80722	D	1	B	0.18741	0.03	B	0.17979	0.02	T	0.02751	-1.1115	10	0.51188	T	0.08	-18.9022	19.3532	0.94398	0.0:1.0:0.0:0.0	.	48	P54289-2	.	T	48	ENSP00000349320:A48T;ENSP00000348589:A48T;ENSP00000405395:A48T	ENSP00000284088:A48T	A	-	1	0	CACNA2D1	81816855	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.319000	0.65835	2.873000	0.98535	0.644000	0.83932	GCA		0.358	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				4	119	0	0	0	1	0	4	119				
MPP3	4356	broad.mit.edu	37	17	41879154	41879154	+	Missense_Mutation	SNP	A	A	C			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr17:41879154A>C	ENST00000398389.4	-	20	1838	c.1673T>G	c.(1672-1674)cTc>cGc	p.L558R	MPP3_ENST00000398393.1_Missense_Mutation_p.L583R	NM_001932.4	NP_001923.2	Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	558	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	guanylate kinase activity (GO:0004385)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		GGCACCCTGGAGATCCTCCTT	0.552																																						ENST00000398393.1																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26						c.(1747-1749)cTc>cGc		membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)							111.0	105.0	107.0					17																	41879154		1939	4151	6090	SO:0001583	missense	4356				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity	g.chr17:41879154A>C		CCDS42344.1	17q12-q21	2008-07-18			ENSG00000161647	ENSG00000161647			7221	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 3"", ""discs, large (Drosophila) homolog 3"", ""membrane protein palmitoylated 3"""	601114		DLG3		8824795	Standard	NR_003562		Approved		uc002iei.4	Q13368	OTTHUMG00000133838	ENST00000398389.4:c.1673T>G	17.37:g.41879154A>C	ENSP00000381425:p.Leu558Arg		Somatic				MPP3_ENST00000398389.4_Missense_Mutation_p.L558R	p.L583R			WXS	Illumina GAIIx	Phase_I	Q13368	MPP3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.119)	18	2008	-		Breast(137;0.00394)	558					B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	Missense_Mutation	SNP	ENST00000398389.4	37	c.1748T>G	CCDS42344.1	.	.	.	.	.	.	.	.	.	.	A	18.86	3.712694	0.68730	.	.	ENSG00000161647	ENST00000398393;ENST00000398389	T;T	0.55930	0.49;0.49	5.42	5.42	0.78866	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.267510	0.37623	N	0.002001	T	0.74794	0.3763	M	0.90870	3.155	0.47994	D	0.999567	D;D	0.53151	0.958;0.958	P;P	0.60345	0.873;0.873	T	0.80928	-0.1163	10	0.87932	D	0	.	13.0831	0.59125	1.0:0.0:0.0:0.0	.	558;583	Q13368;D3DX46	MPP3_HUMAN;.	R	583;558	ENSP00000381430:L583R;ENSP00000381425:L558R	ENSP00000381425:L558R	L	-	2	0	MPP3	39234680	1.000000	0.71417	0.981000	0.43875	0.917000	0.54804	5.137000	0.64789	2.280000	0.76307	0.460000	0.39030	CTC		0.552	MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258371.1	NM_001932		34	49	0	0	0	1	0	34	49				
FRG1B	284802	broad.mit.edu	37	20	29625891	29625891	+	Silent	SNP	C	C	G			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr20:29625891C>G	ENST00000278882.3	+	5	515	c.135C>G	c.(133-135)ggC>ggG	p.G45G	FRG1B_ENST00000439954.2_Silent_p.G50G|FRG1B_ENST00000358464.4_Silent_p.G45G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	45										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGAAATCTGGCTATGGAAAAT	0.343																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(133-135)ggC>ggG																																						SO:0001819	synonymous_variant	0							g.chr20:29625891C>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.135C>G	20.37:g.29625891C>G			Somatic				FRG1B_ENST00000439954.2_Silent_p.G50G|FRG1B_ENST00000358464.4_Silent_p.G45G	p.G45G			WXS	Illumina GAIIx	Phase_I					5	515	+								C4AME5	Silent	SNP	ENST00000278882.3	37	c.135C>G																																																																																					0.343	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	83	0	0	0	1	0	5	83				
PCK2	5106	broad.mit.edu	37	14	24569263	24569263	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr14:24569263G>A	ENST00000216780.4	+	7	1343	c.1075G>A	c.(1075-1077)Gcc>Acc	p.A359T	PCK2_ENST00000545054.2_Missense_Mutation_p.A225T|PCK2_ENST00000561286.1_Missense_Mutation_p.A225T|PCK2_ENST00000396973.4_Missense_Mutation_p.A359T|PCK2_ENST00000558096.1_Missense_Mutation_p.A225T|NRL_ENST00000561028.1_Intron|PCK2_ENST00000559250.1_Missense_Mutation_p.A371T	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	359					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		TGGTACCTCTGCCACCACCAA	0.522																																						ENST00000545054.2																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18						c.(673-675)Gcc>Acc		phosphoenolpyruvate carboxykinase 2 (mitochondrial)							115.0	117.0	116.0					14																	24569263		2203	4300	6503	SO:0001583	missense	5106				gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr14:24569263G>A	AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.1075G>A	14.37:g.24569263G>A	ENSP00000216780:p.Ala359Thr		Somatic				PCK2_ENST00000396973.4_Missense_Mutation_p.A359T|PCK2_ENST00000216780.4_Missense_Mutation_p.A359T|PCK2_ENST00000561286.1_Missense_Mutation_p.A225T|PCK2_ENST00000558096.1_Missense_Mutation_p.A225T|NRL_ENST00000561028.1_Intron|PCK2_ENST00000559250.1_Missense_Mutation_p.A371T	p.A225T			WXS	Illumina GAIIx	Phase_I	Q16822	PCKGM_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	7	1591	+			359					O43253|Q86U01|Q9BV62	Missense_Mutation	SNP	ENST00000216780.4	37	c.673G>A	CCDS9609.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.467635	0.43839	.	.	ENSG00000100889	ENST00000216780;ENST00000396973;ENST00000545054	T;T;T	0.04317	3.65;3.65;3.65	5.49	5.49	0.81192	.	0.289751	0.42053	D	0.000771	T	0.04815	0.0130	N	0.21142	0.635	0.38824	D	0.955709	B;B;B;B	0.15473	0.001;0.007;0.013;0.007	B;B;B;B	0.17979	0.014;0.017;0.02;0.017	T	0.49466	-0.8937	10	0.20046	T	0.44	-16.065	16.8589	0.86013	0.0:0.0:1.0:0.0	.	225;359;359;359	B4DW73;Q16822;Q16822-2;Q6IB91	.;PCKGM_HUMAN;.;.	T	359;359;225	ENSP00000216780:A359T;ENSP00000380171:A359T;ENSP00000441826:A225T	ENSP00000216780:A359T	A	+	1	0	PCK2	23639103	0.751000	0.28327	1.000000	0.80357	0.967000	0.64934	2.457000	0.45005	2.579000	0.87056	0.655000	0.94253	GCC		0.522	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3	NM_001018073		32	33	0	0	0	1	0	32	33				
PROSER1	80209	broad.mit.edu	37	13	39587518	39587518	+	Missense_Mutation	SNP	T	T	C			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr13:39587518T>C	ENST00000352251.3	-	11	2704	c.1871A>G	c.(1870-1872)cAt>cGt	p.H624R	PROSER1_ENST00000484434.3_Intron|PROSER1_ENST00000350125.3_Missense_Mutation_p.H602R	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	624	Ser-rich.																ATTCCCAGAATGAGATGGACC	0.473																																						ENST00000352251.3																			0											c.(1870-1872)cAt>cGt		proline and serine rich 1							150.0	156.0	154.0					13																	39587518		2203	4300	6503	SO:0001583	missense	80209							g.chr13:39587518T>C	AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 23"""	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.1871A>G	13.37:g.39587518T>C	ENSP00000332034:p.His624Arg		Somatic				PROSER1_ENST00000484434.3_Intron|PROSER1_ENST00000350125.3_Missense_Mutation_p.H602R	p.H624R	NM_025138.4	NP_079414.3	WXS	Illumina GAIIx	Phase_I	Q86XN7	CM023_HUMAN			11	2704	-			624			Ser-rich.		A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP	ENST00000352251.3	37	c.1871A>G	CCDS9368.2	.	.	.	.	.	.	.	.	.	.	T	11.70	1.716919	0.30413	.	.	ENSG00000120685	ENST00000352251;ENST00000350125	T;T	0.44482	0.92;0.92	4.73	2.16	0.27623	.	.	.	.	.	T	0.39572	0.1083	N	0.19112	0.55	0.40546	D	0.98107	D;B	0.67145	0.996;0.42	D;B	0.77557	0.99;0.087	T	0.35992	-0.9766	8	.	.	.	-4.0017	2.5606	0.04771	0.1513:0.0812:0.1584:0.6091	.	602;624	A6NJ97;Q86XN7	.;PRSR1_HUMAN	R	624;602	ENSP00000332034:H624R;ENSP00000339123:H602R	.	H	-	2	0	PROSER1	38485518	0.988000	0.35896	0.080000	0.20451	0.517000	0.34286	2.001000	0.40825	0.231000	0.21079	0.459000	0.35465	CAT		0.473	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138		44	56	0	0	0	1	0	44	56				
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	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		25	35	0	0	0	1	0	25	35				
OPRM1	4988	broad.mit.edu	37	6	154411258	154411258	+	Silent	SNP	C	C	T			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr6:154411258C>T	ENST00000330432.7	+	2	825	c.588C>T	c.(586-588)ctC>ctT	p.L196L	OPRM1_ENST00000434900.2_Silent_p.L289L|OPRM1_ENST00000360422.4_Silent_p.L196L|OPRM1_ENST00000522236.1_Silent_p.L96L|OPRM1_ENST00000518759.1_Silent_p.L115L|OPRM1_ENST00000337049.4_Silent_p.L196L|OPRM1_ENST00000419506.2_Silent_p.L196L|OPRM1_ENST00000520708.1_Silent_p.L96L|OPRM1_ENST00000435918.2_Silent_p.L196L|OPRM1_ENST00000524163.1_Silent_p.L196L|OPRM1_ENST00000522555.1_Silent_p.L96L|OPRM1_ENST00000452687.2_Silent_p.L196L|OPRM1_ENST00000414028.2_Silent_p.L196L|OPRM1_ENST00000229768.5_Silent_p.L196L|OPRM1_ENST00000428397.2_Silent_p.L196L	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	196					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	ACTGGATCCTCTCTTCAGCCA	0.473																																						ENST00000414028.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(586-588)ctC>ctT		opioid receptor, mu 1	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)						138.0	130.0	132.0					6																	154411258		2025	4217	6242	SO:0001819	synonymous_variant	4988				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	g.chr6:154411258C>T	L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.588C>T	6.37:g.154411258C>T			Somatic				OPRM1_ENST00000419506.2_Silent_p.L196L|OPRM1_ENST00000520708.1_Silent_p.L96L|OPRM1_ENST00000229768.5_Silent_p.L196L|OPRM1_ENST00000522555.1_Silent_p.L96L|OPRM1_ENST00000452687.2_Silent_p.L196L|OPRM1_ENST00000428397.2_Silent_p.L196L|OPRM1_ENST00000330432.7_Silent_p.L196L|OPRM1_ENST00000434900.2_Silent_p.L289L|OPRM1_ENST00000337049.4_Silent_p.L196L|OPRM1_ENST00000435918.2_Silent_p.L196L|OPRM1_ENST00000518759.1_Silent_p.L115L|OPRM1_ENST00000522236.1_Silent_p.L96L|OPRM1_ENST00000360422.4_Silent_p.L196L|OPRM1_ENST00000524163.1_Silent_p.L196L	p.L196L	NM_001145284.2	NP_001138756.1	WXS	Illumina GAIIx	Phase_I	P35372	OPRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	2	638	+		Ovarian(120;0.196)	196					B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Silent	SNP	ENST00000330432.7	37	c.588C>T	CCDS55070.1																																																																																				0.473	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	NM_000914		25	34	0	0	0	1	0	25	34				
CDKN2A	1029	broad.mit.edu	37	9	21974744	21974744	+	Missense_Mutation	SNP	A	A	C			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr9:21974744A>C	ENST00000304494.5	-	1	353	c.83T>G	c.(82-84)gTg>gGg	p.V28G	CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.V28G|CDKN2A_ENST00000579122.1_Missense_Mutation_p.V28G|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000530628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.V28G	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	28					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.V28_E33del(2)|p.0(1)|p.V28_V51del(1)|p.V28fs*15(1)|p.R22fs*14(1)|p.V28G(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGCGCCCGCACCTCCTCTAC	0.736		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1345	Whole gene deletion(1316)|Unknown(23)|Deletion - In frame(3)|Deletion - Frameshift(2)|Substitution - Missense(1)	p.0?(1315)|p.?(23)|p.V28_E33del(2)|p.0(1)|p.V28_V51del(1)|p.V28fs*15(1)|p.R22fs*14(1)|p.V28G(1)	haematopoietic_and_lymphoid_tissue(278)|skin(169)|central_nervous_system(163)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(57)|oesophagus(53)|pleura(52)|upper_aerodigestive_tract(48)|ovary(34)|kidney(31)|breast(30)|pancreas(29)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM024658	CDKN2A	M		c.(82-84)gTg>gGg		cyclin-dependent kinase inhibitor 2A							23.0	30.0	28.0					9																	21974744		1949	3939	5888	SO:0001583	missense	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21974744A>C	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.83T>G	9.37:g.21974744A>C	ENSP00000307101:p.Val28Gly	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)	Somatic				CDKN2A_ENST00000498124.1_Missense_Mutation_p.V28G|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579755.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.V28G|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.V28G	p.V28G	NM_000077.4	NP_000068.1	WXS	Illumina GAIIx	Phase_I	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	353	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	28					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.83T>G	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.776837	0.90195	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	T;T	0.73152	-0.72;-0.72	4.89	4.89	0.63831	Ankyrin repeat-containing domain (3);	.	.	.	.	D	0.88540	0.6464	H	0.96208	3.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91605	0.5298	9	0.62326	D	0.03	.	13.8927	0.63750	1.0:0.0:0.0:0.0	.	28;28	P42771;G3XAG3	CD2A1_HUMAN;.	G	28	ENSP00000307101:V28G;ENSP00000394932:V28G	ENSP00000307101:V28G	V	-	2	0	CDKN2A	21964744	0.963000	0.33076	1.000000	0.80357	0.918000	0.54935	4.872000	0.63050	2.165000	0.68154	0.533000	0.62120	GTG		0.736	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		6	26	0	0	0	1	0	6	26				
LRP1B	53353	broad.mit.edu	37	2	141092048	141092048	+	Missense_Mutation	SNP	A	A	G			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr2:141092048A>G	ENST00000389484.3	-	79	13168	c.12197T>C	c.(12196-12198)gTa>gCa	p.V4066A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4066					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTTCTTTTGTACTAAAATCCT	0.403										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(12196-12198)gTa>gCa		low density lipoprotein receptor-related protein 1B							177.0	162.0	167.0					2																	141092048		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141092048A>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12197T>C	2.37:g.141092048A>G	ENSP00000374135:p.Val4066Ala	TSP Lung(27;0.18)	Somatic					p.V4066A	NM_018557.2	NP_061027.2	WXS	Illumina GAIIx	Phase_I	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	79	13168	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4066					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.12197T>C	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	27.1|27.1	4.796568|4.796568	0.90453|0.90453	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	D|.	0.96011|.	-3.88|.	6.08|6.08	6.08|6.08	0.98989|0.98989	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);|.	0.381500|.	0.24359|.	N|.	0.039212|.	T|T	0.67477|0.67477	0.2897|0.2897	L|L	0.56769|0.56769	1.78|1.78	0.37120|0.37120	D|D	0.900784|0.900784	P|.	0.39044|.	0.656|.	B|.	0.37550|.	0.253|.	T|T	0.70085|0.70085	-0.4969|-0.4969	10|5	0.36615|.	T|.	0.2|.	.|.	16.6512|16.6512	0.85203|0.85203	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	4066|.	Q9NZR2|.	LRP1B_HUMAN|.	A|H	4066;4004|298	ENSP00000374135:V4066A|.	ENSP00000374135:V4066A|.	V|Y	-|-	2|1	0|0	LRP1B|LRP1B	140808518|140808518	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.837000|8.837000	0.92110|0.92110	2.333000|2.333000	0.79357|0.79357	0.482000|0.482000	0.46254|0.46254	GTA|TAC		0.403	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		22	24	0	0	0	1	0	22	24				
PTPRD	5789	broad.mit.edu	37	9	8331704	8331704	+	Silent	SNP	C	C	T			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr9:8331704C>T	ENST00000381196.4	-	41	5955	c.5412G>A	c.(5410-5412)caG>caA	p.Q1804Q	PTPRD_ENST00000358503.5_Silent_p.Q1782Q|PTPRD_ENST00000355233.5_Silent_p.Q1398Q|PTPRD_ENST00000486161.1_Silent_p.Q1397Q|PTPRD_ENST00000397617.3_Silent_p.Q1397Q|PTPRD_ENST00000540109.1_Silent_p.Q1804Q|PTPRD_ENST00000356435.5_Silent_p.Q1804Q|PTPRD_ENST00000397606.3_Silent_p.Q1397Q|PTPRD_ENST00000397611.3_Silent_p.Q1394Q|PTPRD_ENST00000537002.1_Silent_p.Q1394Q|PTPRD_ENST00000360074.4_Silent_p.Q1791Q	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1804	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AGTCAGTGAACTGGAACTGCC	0.512										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(5410-5412)caG>caA		protein tyrosine phosphatase, receptor type, D							111.0	105.0	107.0					9																	8331704		2203	4300	6503	SO:0001819	synonymous_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8331704C>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.5412G>A	9.37:g.8331704C>T		TSP Lung(15;0.13)	Somatic				PTPRD_ENST00000358503.5_Silent_p.Q1782Q|PTPRD_ENST00000355233.5_Silent_p.Q1398Q|PTPRD_ENST00000486161.1_Silent_p.Q1397Q|PTPRD_ENST00000360074.4_Silent_p.Q1791Q|PTPRD_ENST00000540109.1_Silent_p.Q1804Q|PTPRD_ENST00000356435.5_Silent_p.Q1804Q|PTPRD_ENST00000397606.3_Silent_p.Q1397Q|PTPRD_ENST00000397617.3_Silent_p.Q1397Q|PTPRD_ENST00000397611.3_Silent_p.Q1394Q|PTPRD_ENST00000537002.1_Silent_p.Q1394Q	p.Q1804Q	NM_002839.3	NP_002830.1	WXS	Illumina GAIIx	Phase_I	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	41	5955	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1804			Tyrosine-protein phosphatase 2.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	c.5412G>A	CCDS43786.1																																																																																				0.512	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			8	103	0	0	0	1	0	8	103				
PCDHGB1	56104	broad.mit.edu	37	5	140730154	140730154	+	Missense_Mutation	SNP	C	C	A			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr5:140730154C>A	ENST00000523390.1	+	1	327	c.327C>A	c.(325-327)aaC>aaA	p.N109K	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	109	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGCTGAAAACCCAATGAATG	0.423																																						ENST00000523390.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16						c.(325-327)aaC>aaA									65.0	64.0	64.0					5																	140730154		1867	4112	5979	SO:0001583	missense	0							g.chr5:140730154C>A	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.327C>A	5.37:g.140730154C>A	ENSP00000429273:p.Asn109Lys		Somatic				PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	p.N109K	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	327	+								Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	c.327C>A	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	12.32	1.901247	0.33535	.	.	ENSG00000254221	ENST00000523390	T	0.28255	1.62	5.46	-4.25	0.03766	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.31702	0.0805	L	0.55743	1.74	0.24380	N	0.994793	B;B	0.25351	0.124;0.041	B;B	0.33121	0.149;0.158	T	0.44236	-0.9341	9	0.48119	T	0.1	.	14.9572	0.71124	0.0:0.279:0.0:0.721	.	109;109	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	K	109	ENSP00000429273:N109K	ENSP00000429273:N109K	N	+	3	2	PCDHGB1	140710338	0.011000	0.17503	0.883000	0.34634	0.771000	0.43674	-1.126000	0.03254	-0.720000	0.04935	-0.251000	0.11542	AAC		0.423	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		3	26	1	0	0.115264	1	0.119106	3	26				
FES	2242	broad.mit.edu	37	15	91433097	91433097	+	Silent	SNP	T	T	G			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr15:91433097T>G	ENST00000328850.3	+	8	1096	c.954T>G	c.(952-954)gcT>gcG	p.A318A	FES_ENST00000394302.1_Silent_p.A260A|FES_ENST00000444422.2_Silent_p.A318A|FES_ENST00000450438.2_Silent_p.A260A|FES_ENST00000448367.1_3'UTR|FES_ENST00000394300.3_Silent_p.A260A|FES_ENST00000414248.2_Silent_p.A260A	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	318					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			ATGAGCTGGCTGTGGCCACCG	0.617																																						ENST00000328850.3																			0				lung(2)|ovary(1)	3						c.(952-954)gcT>gcG		feline sarcoma oncogene							108.0	113.0	111.0					15																	91433097		2198	4298	6496	SO:0001819	synonymous_variant	2242				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:91433097T>G	X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"""SH2 domain containing"""	3657	protein-coding gene	gene with protein product	"""Oncogene FES, feline sarcoma virus"", ""c-fes/fps protein"""	190030	"""feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog"", ""feline sarcoma oncogene"""			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.954T>G	15.37:g.91433097T>G			Somatic				FES_ENST00000414248.2_Silent_p.A260A|FES_ENST00000448367.1_3'UTR|FES_ENST00000394302.1_Silent_p.A260A|FES_ENST00000394300.3_Silent_p.A260A|FES_ENST00000450438.2_Silent_p.A260A|FES_ENST00000444422.2_Silent_p.A318A	p.A318A	NM_002005.3	NP_001996.1	WXS	Illumina GAIIx	Phase_I	P07332	FES_HUMAN	Lung(145;0.229)		8	1096	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		318					B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Silent	SNP	ENST00000328850.3	37	c.954T>G	CCDS10365.1																																																																																				0.617	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313497.1	NM_002005		8	70	0	0	0	1	0	8	70				
LMTK2	22853	broad.mit.edu	37	7	97821218	97821218	+	Missense_Mutation	SNP	G	G	A	rs144291659		TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr7:97821218G>A	ENST00000297293.5	+	11	1734	c.1441G>A	c.(1441-1443)Gct>Act	p.A481T		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	481					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CTGGGAGGCCGCTAAGCACGA	0.587																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(1441-1443)Gct>Act		lemur tyrosine kinase 2		G	THR/ALA	0,4406		0,0,2203	50.0	48.0	49.0		1441	5.9	0.4	7	dbSNP_134	49	2,8598	2.2+/-6.3	0,2,4298	yes	missense	LMTK2	NM_014916.3	58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	481/1504	97821218	2,13004	2203	4300	6503	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97821218G>A	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.1441G>A	7.37:g.97821218G>A	ENSP00000297293:p.Ala481Thr		Somatic					p.A481T	NM_014916.3	NP_055731.2	WXS	Illumina GAIIx	Phase_I	Q8IWU2	LMTK2_HUMAN			11	1734	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		481					A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.1441G>A	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	G	34	5.293719	0.95546	0.0	2.33E-4	ENSG00000164715	ENST00000297293	D	0.85484	-1.99	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.92401	0.7588	M	0.80183	2.485	0.80722	D	1	D	0.63880	0.993	P	0.62885	0.908	D	0.92507	0.6013	10	0.87932	D	0	.	19.5705	0.95413	0.0:0.0:1.0:0.0	.	481	Q8IWU2	LMTK2_HUMAN	T	481	ENSP00000297293:A481T	ENSP00000297293:A481T	A	+	1	0	LMTK2	97659154	1.000000	0.71417	0.374000	0.26016	0.841000	0.47740	9.420000	0.97426	2.941000	0.99782	0.655000	0.94253	GCT		0.587	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		3	28	0	0	0	1	0	3	28				
GABBR2	9568	broad.mit.edu	37	9	101304173	101304173	+	Silent	SNP	G	G	A	rs142025089	byFrequency	TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr9:101304173G>A	ENST00000259455.2	-	3	1071	c.612C>T	c.(610-612)gaC>gaT	p.D204D	GABBR2_ENST00000477471.1_5'UTR	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	204					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	ACCTCTGAACGTCTTGCGTCA	0.537													G|||	3	0.000599042	0.0023	0.0	5008	,	,		20246	0.0		0.0	False		,,,				2504	0.0					ENST00000259455.2																		NOTCH1_ENST00000277541/GABBR2(2)	0				breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(610-612)gaC>gaT		gamma-aminobutyric acid (GABA) B receptor, 2	Baclofen(DB00181)	G		2,4404	4.2+/-10.8	0,2,2201	156.0	111.0	126.0		612	2.2	1.0	9	dbSNP_134	126	0,8600		0,0,4300	no	coding-synonymous	GABBR2	NM_005458.7		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		204/942	101304173	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9568				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr9:101304173G>A	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.612C>T	9.37:g.101304173G>A			Somatic				GABBR2_ENST00000477471.1_5'UTR	p.D204D	NM_005458.7	NP_005449.5	WXS	Illumina GAIIx	Phase_I	O75899	GABR2_HUMAN			3	1071	-		Acute lymphoblastic leukemia(62;0.0527)	204					O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Silent	SNP	ENST00000259455.2	37	c.612C>T	CCDS6736.1																																																																																				0.537	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1			11	17	0	0	0	1	0	11	17				
TMEM39A	55254	broad.mit.edu	37	3	119155786	119155786	+	Missense_Mutation	SNP	G	G	C			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr3:119155786G>C	ENST00000319172.5	-	7	1384	c.964C>G	c.(964-966)Ctc>Gtc	p.L322V	TMEM39A_ENST00000486159.1_5'Flank	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	322						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		ACCATAATGAGGTGCTCACAT	0.468																																						ENST00000319172.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13						c.(964-966)Ctc>Gtc		transmembrane protein 39A							241.0	216.0	224.0					3																	119155786		2203	4300	6503	SO:0001583	missense	55254					integral to membrane		g.chr3:119155786G>C	BC021277	CCDS2987.1	3q13.33	2005-01-10			ENSG00000176142	ENSG00000176142			25600	protein-coding gene	gene with protein product						12477932	Standard	NM_018266		Approved	FLJ10902	uc003eck.2	Q9NV64	OTTHUMG00000159361	ENST00000319172.5:c.964C>G	3.37:g.119155786G>C	ENSP00000326063:p.Leu322Val		Somatic					p.L322V	NM_018266.1	NP_060736.1	WXS	Illumina GAIIx	Phase_I	Q9NV64	TM39A_HUMAN		GBM - Glioblastoma multiforme(114;0.244)	7	1384	-			322					D3DN80|Q53FN4|Q53GI1|Q6PKB5	Missense_Mutation	SNP	ENST00000319172.5	37	c.964C>G	CCDS2987.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.765116	0.49574	.	.	ENSG00000176142	ENST00000319172	T	0.44482	0.92	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.51398	0.1672	L	0.34521	1.04	0.80722	D	1	D	0.65815	0.995	P	0.61533	0.89	T	0.44050	-0.9353	10	0.39692	T	0.17	-10.2264	17.8168	0.88637	0.0:0.0:1.0:0.0	.	322	Q9NV64	TM39A_HUMAN	V	322	ENSP00000326063:L322V	ENSP00000326063:L322V	L	-	1	0	TMEM39A	120638476	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.171000	0.64996	2.692000	0.91855	0.650000	0.86243	CTC		0.468	TMEM39A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354941.3	NM_018266		33	51	0	0	0	1	0	33	51				
VASH2	79805	broad.mit.edu	37	1	213146004	213146004	+	Missense_Mutation	SNP	G	G	T			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr1:213146004G>T	ENST00000517399.1	+	5	580	c.580G>T	c.(580-582)Gtt>Ttt	p.V194F	VASH2_ENST00000366965.2_Missense_Mutation_p.V150F|VASH2_ENST00000366967.2_Missense_Mutation_p.V90F|VASH2_ENST00000271776.4_3'UTR|VASH2_ENST00000366964.3_Missense_Mutation_p.V52F|VASH2_ENST00000366966.2_Missense_Mutation_p.V129F|VASH2_ENST00000366968.4_Missense_Mutation_p.V129F			Q86V25	VASH2_HUMAN	vasohibin 2	194					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)	cytoplasm (GO:0005737)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		CTTTCACCACGTTGTGCTGGG	0.498																																						ENST00000366968.4																			0				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(385-387)Gtt>Ttt		vasohibin 2							114.0	106.0	109.0					1																	213146004		2203	4300	6503	SO:0001583	missense	79805				positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	cytoplasm		g.chr1:213146004G>T	AK022567	CCDS1511.1, CCDS44315.1, CCDS44316.1, CCDS73026.1	1q23	2008-02-05			ENSG00000143494	ENSG00000143494			25723	protein-coding gene	gene with protein product		610471				16528006	Standard	XR_247041		Approved	FLJ12505	uc001hjw.3	Q86V25	OTTHUMG00000036925	ENST00000517399.1:c.580G>T	1.37:g.213146004G>T	ENSP00000428324:p.Val194Phe		Somatic				VASH2_ENST00000366966.2_Missense_Mutation_p.V129F|VASH2_ENST00000366967.2_Missense_Mutation_p.V90F|VASH2_ENST00000517399.1_Missense_Mutation_p.V194F|VASH2_ENST00000366965.2_Missense_Mutation_p.V150F|VASH2_ENST00000271776.4_3'UTR|VASH2_ENST00000366964.3_Missense_Mutation_p.V52F	p.V129F	NM_001136474.1	NP_001129946.1	WXS	Illumina GAIIx	Phase_I	Q86V25	VASH2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)	7	735	+			194					B4DYZ5|Q2VT46|Q5VTE7|Q5VTE9|Q7Z6E3|Q8IZ24|Q9H9W5	Missense_Mutation	SNP	ENST00000517399.1	37	c.385G>T	CCDS1511.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112063	0.77210	.	.	ENSG00000143494	ENST00000366966;ENST00000366964;ENST00000366968;ENST00000366965;ENST00000366967;ENST00000517399	.	.	.	5.26	5.26	0.73747	.	0.064020	0.64402	D	0.000008	T	0.76821	0.4041	L	0.59436	1.845	0.58432	D	0.999997	D;D	0.71674	0.994;0.998	P;D	0.68483	0.889;0.958	T	0.78682	-0.2109	9	0.87932	D	0	-14.1987	19.2409	0.93883	0.0:0.0:1.0:0.0	.	194;150	Q86V25;Q86V25-5	VASH2_HUMAN;.	F	129;52;129;150;90;194	.	ENSP00000355931:V52F	V	+	1	0	VASH2	211212627	1.000000	0.71417	0.438000	0.26821	0.871000	0.50021	5.142000	0.64820	2.620000	0.88729	0.655000	0.94253	GTT		0.498	VASH2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381686.1	NM_024749		26	35	1	0	1.17739e-12	1	1.25859e-12	26	35				
FAM177A1P1	728710	broad.mit.edu	37	4	99877173	99877173	+	RNA	DEL	A	A	-			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr4:99877173delA	ENST00000583654.1	+	0	237																											AGAGGCTTTGAAAATGTAGAA	0.398																																						ENST00000583654.1																			0																																																			0							g.chr4:99877173delA																													4.37:g.99877173delA			Somatic								WXS	Illumina GAIIx	Phase_I					0	237	+									RNA	DEL	ENST00000583654.1	37																																																																																						0.398	RP11-571L19.7-001	KNOWN	non_canonical_other|not_organism_supported|basic	antisense	antisense	OTTHUMT00000441787.1			2	4						2	4	---	---	---	---
PLEKHG2	64857	broad.mit.edu	37	19	39905669	39905669	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr19:39905669delT	ENST00000409794.3	+	3	997	c.147delT	c.(145-147)tctfs	p.S49fs	PLEKHG2_ENST00000409797.2_Frame_Shift_Del_p.S49fs|PLEKHG2_ENST00000378550.1_Frame_Shift_Del_p.S49fs|PLEKHG2_ENST00000425673.1_Frame_Shift_Del_p.S49fs|PLEKHG2_ENST00000458508.2_Intron	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	49					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCCGAGGTTCTGGGAGCTCCA	0.662																																						ENST00000425673.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(145-147)tctfs		pleckstrin homology domain containing, family G (with RhoGef domain) member 2							9.0	9.0	9.0					19																	39905669		2187	4277	6464	SO:0001589	frameshift_variant	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39905669delT	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.147delT	19.37:g.39905669delT	ENSP00000386733:p.Ser49fs		Somatic				PLEKHG2_ENST00000409797.2_Frame_Shift_Del_p.S49fs|PLEKHG2_ENST00000458508.2_Intron|PLEKHG2_ENST00000378550.1_Frame_Shift_Del_p.S49fs|PLEKHG2_ENST00000409794.3_Frame_Shift_Del_p.S49fs	p.S49fs			WXS	Illumina GAIIx	Phase_I	Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		3	472	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		49					B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Frame_Shift_Del	DEL	ENST00000409794.3	37	c.147delT	CCDS33022.2																																																																																				0.662	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		2	4						2	4	---	---	---	---
MECP2	4204	broad.mit.edu	37	X	153363100	153363102	+	5'UTR	DEL	GCG	GCG	-	rs587783129		TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chrX:153363100_153363102delGCG	ENST00000303391.6	-	0	110_112				MECP2_ENST00000453960.2_In_Frame_Del_p.7_8AA>A|MECP2_ENST00000407218.1_5'UTR	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2						adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCGCTCGGCgcggcggcggcgg	0.778																																						ENST00000453960.2																			0				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23						c.(19-24)gccgcg>gcg		methyl CpG binding protein 2 (Rett syndrome)			,	87,803		9,38,31,307,151					,	4.0	1.0			5	256,2106		24,107,101,720,559	no	utr-5,coding	MECP2	NM_004992.3,NM_001110792.1	,	33,145,132,1027,710	A1A1,A1R,A1,RR,R		10.8383,9.7753,10.5474	,	,		343,2909				SO:0001623	5_prime_UTR_variant	4204				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity	g.chrX:153363100_153363102delGCG	AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"""mental retardation, X-linked 16"", ""mental retardation, X-linked 79"", ""Rett syndrome"", ""methyl CpG binding protein 2 (Rett syndrome)"""	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.-140CGC>-	X.37:g.153363109_153363111delGCG			Somatic				MECP2_ENST00000407218.1_5'UTR|MECP2_ENST00000303391.6_5'UTR	p.7_8AA>A	NM_001110792.1	NP_001104262.1	WXS	Illumina GAIIx	Phase_I	P51608	MECP2_HUMAN			1	75_77	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		0					O15233|Q6QHH9|Q7Z384	In_Frame_Del	DEL	ENST00000303391.6	37	c.21_23delCGC	CCDS14741.1																																																																																				0.778	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061144.1	NM_004992		2	4						2	4	---	---	---	---
