#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	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_Description	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_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_AccessionNumbers	i_HGNC_CCDS IDs	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_Genefamilydescription	i_HGNC_HGNC ID	i_HGNC_HGNCID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_Name Synonyms	i_HGNC_NameSynonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_PubmedIDs	i_HGNC_Record Type	i_HGNC_RecordType	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGA IDs	i_HGNC_VEGAIDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Region	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_init_n_lod	i_init_t_lod	i_n_alt_count	i_n_alt_count_full	i_n_ref_count	i_n_ref_count_full	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_lod_fstar	i_t_lod_fstar_full	i_t_ref_count_full	i_tumor_f_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	tumor_f
PTPRB	5787	broad.mit.edu	37	12	71016404	71016404	+	Silent	SNP	C	C	T	rs376545279		TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr12:71016404C>T	ENST00000550358.1	-	3	499	c.474G>A	c.(472-474)tcG>tcA	p.S158S	PTPRB_ENST00000334414.6_Silent_p.S158S|PTPRB_ENST00000551525.1_Silent_p.S157S|PTPRB_ENST00000538174.2_5'UTR			P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGCTCCTCACCGAAACTTCTG	0.418																																						ENST00000334414.6											0			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(472-474)tcG>tcA	protein tyrosine phosphatase, receptor type, B	C		1,3685		0,1,1842	31.0	33.0	32.0		474	-10.8	0.0	12		32	3,8169		0,3,4083	no	coding-synonymous	PTPRB	NM_001109754.2		0,4,5925	TT,TC,CC		0.0367,0.0271,0.0337		158/2216	71016404	4,11854	1843	4086	5929	SO:0001819	synonymous_variant	0			angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71016404C>T	X54131	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11			2013-02-11								"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	9665	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			176882	176882		PTPB		PTPB		2169617	2169617	Standard	Standard	NM_001109754	NM_001109754		Approved		uc001swc.4	uc001swc.4	P23467	P23467	OTTHUMG00000169499	OTTHUMG00000169499	ENST00000550358.1:c.474G>A	12.37:g.71016404C>T			PTPRB_ENST00000551525.1_Silent_p.S157S|PTPRB_ENST00000550358.1_Silent_p.S158S|PTPRB_ENST00000538174.2_5'UTR	p.S158S	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		3	518	-	Renal(347;0.236)		0	Fibronectin type-III 2.	B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000550358.1	37	c.474G>A																																																																																										0.418	PTPRB-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404436.1		16.976138	6	6	10	10			5	17.000342	17.000342	4	0.555556	0	0	0	1	0	5	4	0.555556
TCTN3	26123	broad.mit.edu	37	10	97443174	97443174	+	Intron	SNP	A	A	G			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr10:97443174A>G	ENST00000371217.5	-	10	1227				TCTN3_ENST00000430368.2_Intron|TCTN3_ENST00000371209.5_Silent_p.H436H|TCTN3_ENST00000265993.9_Intron			Q6NUS6	TECT3_HUMAN	tectonic family member 3						apoptotic process (GO:0006915)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)		CCTCATTATAATGAACAAAAA	0.353																																						ENST00000371209.5											0			breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15						c.(1306-1308)caT>caC	tectonic family member 3																																			SO:0001627	intron_variant	26123			apoptosis	integral to membrane		g.chr10:97443174A>G	AK098295	AK098295	CCDS31258.2, CCDS44461.1	CCDS31258.2, CCDS44461.1	10q24.1	2014-01-28	2007-08-20	2007-08-20	2014-01-28	2007-08-20	2007-08-20	ENSG00000119977	ENSG00000119977	ENSG00000119977	ENSG00000119977		"""Tectonic proteins"""	"""Tectonic proteins"""	24519	24519	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613847	613847	"""chromosome 10 open reading frame 61"""	C10orf61	"""chromosome 10 open reading frame 61"""	C10orf61		12975309	12975309	Standard	Standard	NM_015631	NM_015631		Approved	DKFZP564D116, TECT3, JBTS18	uc001klb.4	uc001klb.4	Q6NUS6	Q6NUS6	OTTHUMG00000018814	OTTHUMG00000018814	ENST00000371217.5:c.1203+104T>C	10.37:g.97443174A>G			TCTN3_ENST00000265993.9_Intron|TCTN3_ENST00000371217.5_Intron|TCTN3_ENST00000430368.2_Intron	p.H436H			Q6NUS6	TECT3_HUMAN		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)	10	1307	-		Colorectal(252;0.0815)	0		A6NIC8|B0QZ90|B4DR81|Q6P7P3|Q6UW27|Q6ZQQ0|Q8N7K1|Q8NBQ0|Q96GF7|Q9Y3U1	Silent	SNP	ENST00000371217.5	37	c.1308T>C	CCDS31258.2																																																																																									0.353	TCTN3-009	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000471858.1		6.348139	4	4	15	15	NM_015631		2	6.495673	6.495673	4	0.333333	0	0	0	1	0	2	4	0.333333
PCDHGA2	56113	broad.mit.edu	37	5	140719342	140719342	+	Missense_Mutation	SNP	C	C	A			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr5:140719342C>A	ENST00000394576.2	+	1	804	c.804C>A	c.(802-804)gaC>gaA	p.D268E	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	268	Cadherin 3. {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)	p.D268D(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCCACTGACGCAGATGAGG	0.507																																						ENST00000394576.2											2	Substitution - coding silent(2)	haematopoietic_and_lymphoid_tissue(1)|breast(1)	breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(802-804)gaC>gaA							86.0	94.0	91.0					5																	140719342		2203	4300	6503	SO:0001583	missense	0						g.chr5:140719342C>A	AF152508	AF152508	CCDS47289.1	CCDS47289.1	5q31	2011-03-28			2011-03-28			ENSG00000081853	ENSG00000081853	ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	"""Cadherins / Protocadherins : Clustered"""	8700	8700	other	protocadherin	other	protocadherin			606289	606289						10380929	10380929	Standard	Standard	NM_018915	NM_018915		Approved	PCDH-GAMMA-A2			Q9Y5H1	Q9Y5H1	OTTHUMG00000163679	OTTHUMG00000163679	ENST00000394576.2:c.804C>A	5.37:g.140719342C>A	ENSP00000378077:p.Asp268Glu		PCDHGA1_ENST00000517417.1_Intron	p.D268E	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	804	+					Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.804C>A	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	11.09	1.535002	0.27475	.	.	ENSG00000081853	ENST00000394576	T	0.61392	0.11	5.17	-2.35	0.06684	5.17	-2.35	0.06684	Cadherin (5);Cadherin-like (1);	0.000000	0.43260	U	0.000585	D	0.84097	0.5397	H	0.99705	4.715	0.09310	N	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.77429	-0.2591	10	0.87932	D	0	.	12.8677	0.57948	0.0:0.3663:0.0:0.6337	.	268;268	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	E	268	ENSP00000378077:D268E	ENSP00000378077:D268E	D	+	3	2	2	PCDHGA2	140699526	140699526	0.000000	0.05858	0.927000	0.36925	0.020000	0.10135	-2.278000	0.01159	-0.459000	0.07013	-0.218000	0.12543	GAC		0.507	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1		144.572938	-5	-5	128	128	NM_018915		45	144.582367	144.582367	47	0.489130	1	0	1.41504e-22	1	1.47935e-22	45	47	0.48913
COBL	23242	broad.mit.edu	37	7	51095952	51095952	+	Silent	SNP	T	T	C			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr7:51095952T>C	ENST00000265136.7	-	10	3006	c.2841A>G	c.(2839-2841)ggA>ggG	p.G947G	COBL_ENST00000395542.2_Silent_p.G1029G	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	947					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TAGGAGGGGCTCCCACTGCCA	0.572																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000395542.2											0			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(3085-3087)ggA>ggG	cordon-bleu WH2 repeat protein						71.0	66.0	67.0					7																	51095952		2203	4300	6503	SO:0001819	synonymous_variant	23242						g.chr7:51095952T>C	AB014533	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078	ENSG00000106078	ENSG00000106078				22199	22199	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610317	610317	"""cordon-bleu homolog (mouse)"""		"""cordon-bleu homolog (mouse)"""					Standard	Standard	NM_015198	NM_015198		Approved	KIAA0633	uc003tpr.4	uc003tpr.4	O75128	O75128	OTTHUMG00000155999	OTTHUMG00000155999	ENST00000265136.7:c.2841A>G	7.37:g.51095952T>C			COBL_ENST00000265136.7_Silent_p.G947G	p.G1029G			O75128	COBL_HUMAN			12	3271	-	Glioma(55;0.08)		947		A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Silent	SNP	ENST00000265136.7	37	c.3087A>G	CCDS34637.1																																																																																									0.572	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1		45.451620	-8	-8	45	45	NM_015198		14	45.459726	45.459726	13	0.518519	0	0	0	1	0	14	13	0.518519
PDS5B	23047	broad.mit.edu	37	13	33226028	33226028	+	Missense_Mutation	SNP	G	G	C			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr13:33226028G>C	ENST00000315596.10	+	3	382	c.196G>C	c.(196-198)Gat>Cat	p.D66H		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	66					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TCTTGCTTCAGATTTTTTTCT	0.373																																						ENST00000315596.10											0			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62						c.(196-198)Gat>Cat	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)						147.0	142.0	143.0					13																	33226028		1846	4098	5944	SO:0001583	missense	23047			cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33226028G>C	AB023196	AB023196	CCDS41878.1	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642	ENSG00000083642	ENSG00000083642				20418	20418	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605333	605333	"""androgen-induced proliferation inhibitor"""	APRIN	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	8812419, 10215036	Standard	Standard	NM_015032	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	uc010abf.3	Q9NTI5	Q9NTI5	OTTHUMG00000016704	OTTHUMG00000016704	ENST00000315596.10:c.196G>C	13.37:g.33226028G>C	ENSP00000313851:p.Asp66His			p.D66H	NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)	3	382	+		Lung SC(185;0.0367)	66		Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	c.196G>C	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.623932	0.87460	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	.	.	.	5.59	5.59	0.84812	5.59	5.59	0.84812	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72277	0.3440	L	0.41824	1.3	0.80722	D	1	D;D;D	0.69078	0.997;0.973;0.973	D;P;D	0.69654	0.965;0.807;0.919	T	0.66728	-0.5850	9	0.29301	T	0.29	-19.6766	19.961	0.97250	0.0:0.0:1.0:0.0	.	66;66;66	Q9NTI5;Q9NTI5-3;Q9NTI5-4	PDS5B_HUMAN;.;.	H	66	.	ENSP00000313851:D66H	D	+	1	0	0	PDS5B	32124028	32124028	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.655000	0.98512	2.783000	0.95769	0.655000	0.94253	GAT		0.373	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3		165.368679	16	16	190	190	NM_015032		52	167.111695	167.111695	85	0.379562	0	0	0	1	0	52	85	0.379562
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.2_ENST00000585980.1_RNA|AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104.0	89.0	94.0					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"""hypocalciuric hypercalcemia 2"""	HHC2	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		70.822005	-3	-3	78	78	NM_002067		23	71.079042	71.079042	31	0.425926	0	0	0	1	0	23	31	0.425926
LRRC4B	94030	broad.mit.edu	37	19	51021330	51021330	+	Missense_Mutation	SNP	C	C	T			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr19:51021330C>T	ENST00000599957.1	-	3	1837	c.1640G>A	c.(1639-1641)cGg>cAg	p.R547Q	LRRC4B_ENST00000389201.3_Missense_Mutation_p.R547Q			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	547					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CTCCGTGGGCCGCGAGGAGCG	0.687																																						ENST00000599957.1											0			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30						c.(1639-1641)cGg>cAg	leucine rich repeat containing 4B						23.0	25.0	25.0					19																	51021330		2049	4187	6236	SO:0001583	missense	94030				cell junction|integral to membrane|presynaptic membrane		g.chr19:51021330C>T	BC032460	BC032460	CCDS42595.1	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	25042	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""	"""netrin-G3 ligand"""			"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4	"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	11441184	Standard	Standard	NM_001080457	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	uc002pss.3	Q9NT99	Q9NT99			ENST00000599957.1:c.1640G>A	19.37:g.51021330C>T	ENSP00000471502:p.Arg547Gln		LRRC4B_ENST00000389201.3_Missense_Mutation_p.R547Q	p.R547Q			Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	1837	-		all_neural(266;0.131)	547		Q3ZCQ4|Q58F20	Missense_Mutation	SNP	ENST00000599957.1	37	c.1640G>A	CCDS42595.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269678	0.80469	.	.	ENSG00000131409	ENST00000389201	T	0.60797	0.16	3.27	3.27	0.37495	3.27	3.27	0.37495	.	0.000000	0.64402	U	0.000010	T	0.55305	0.1912	L	0.46614	1.455	0.41152	D	0.986037	D	0.53885	0.963	P	0.48114	0.567	T	0.59568	-0.7430	10	0.46703	T	0.11	.	12.3875	0.55340	0.0:1.0:0.0:0.0	.	547	Q9NT99	LRC4B_HUMAN	Q	547	ENSP00000373853:R547Q	ENSP00000373853:R547Q	R	-	2	0	0	LRRC4B	55713142	55713142	0.326000	0.24669	1.000000	0.80357	0.894000	0.52154	4.449000	0.60034	1.823000	0.53134	0.462000	0.41574	CGG		0.687	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1		26.168968	-2	-2	19	19	NM_001080457		9	26.711439	26.711439	17	0.346154	0	0	0	1	0	9	17	0.346154
NFATC2	4773	broad.mit.edu	37	20	50140605	50140605	+	Missense_Mutation	SNP	C	C	T			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr20:50140605C>T	ENST00000396009.3	-	2	394	c.175G>A	c.(175-177)Gca>Aca	p.A59T	NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000414705.1_Missense_Mutation_p.A39T|NFATC2_ENST00000610033.1_Intron|NFATC2_ENST00000371564.3_Missense_Mutation_p.A59T|NFATC2_ENST00000609943.1_Missense_Mutation_p.A39T	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	59					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A59T(2)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TCGGGGTATGCGGGTCCGGAG	0.592																																						ENST00000371564.3											2	Substitution - Missense(2)	large_intestine(1)|kidney(1)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(175-177)Gca>Aca	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2						49.0	57.0	54.0					20																	50140605		2203	4300	6503	SO:0001583	missense	4773			B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50140605C>T	U43342, U43341	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			2009-11-24			ENSG00000101096	ENSG00000101096	ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	"""Nuclear factor of activated T-cells"""	7776	7776	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600490	600490						8202141	8202141	Standard	Standard	NM_012340	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	uc002xwd.4	Q13469	Q13469	OTTHUMG00000032747	OTTHUMG00000032747	ENST00000396009.3:c.175G>A	20.37:g.50140605C>T	ENSP00000379330:p.Ala59Thr		NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000609943.1_Missense_Mutation_p.A39T|NFATC2_ENST00000414705.1_Missense_Mutation_p.A39T|NFATC2_ENST00000396009.3_Missense_Mutation_p.A59T|NFATC2_ENST00000610033.1_Intron	p.A59T	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN			2	394	-	Hepatocellular(150;0.248)		59		B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.175G>A	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883442	0.33255	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.14893	2.47;2.47;2.48	5.31	0.654	0.17833	5.31	0.654	0.17833	.	1.029610	0.07687	N	0.938074	T	0.10165	0.0249	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.17268	0.016;0.016;0.016;0.021	B;B;B;B	0.09377	0.003;0.002;0.004;0.003	T	0.39522	-0.9610	10	0.23302	T	0.38	-0.1472	5.0295	0.14402	0.1161:0.4371:0.3411:0.1057	.	39;39;59;59	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	T	59;59;39	ENSP00000360619:A59T;ENSP00000379330:A59T;ENSP00000396471:A39T	ENSP00000360619:A59T	A	-	1	0	0	NFATC2	49574012	49574012	0.772000	0.28567	0.980000	0.43619	0.986000	0.74619	-0.193000	0.09573	0.184000	0.20083	0.313000	0.20887	GCA		0.592	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2		-2.910972	2	2	67	67	NM_012340		3	6.932369	6.932369	46	0.061224	0	0	0	1	0	3	46	0.061224
MIR518A1	574488	broad.mit.edu	37	19	54233129	54233129	+	RNA	SNP	T	T	G			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr19:54233129T>G	ENST00000385068.1	+	0	0				MIR526A2_ENST00000390198.1_RNA|MIR518E_ENST00000385252.1_RNA	NR_030210.1				microRNA 518a-1																		GCGCTTTCTGTTGGCTAAAAG	0.423																																						ENST00000385252.1											0																	79.0	76.0	77.0					19																	54233129		1568	3582	5150			0						g.chr19:54233129T>G					19q13.42	2011-09-12		2008-12-18	2011-09-12		2008-12-18	ENSG00000207803	ENSG00000207803	ENSG00000207803	ENSG00000207803		"""ncRNAs / Micro RNAs"""	"""ncRNAs / Micro RNAs"""	32120	32120	non-coding RNA	RNA, micro	non-coding RNA	RNA, micro						MIRN518A-1, MIRN518A1		MIRN518A-1, MIRN518A1				Standard	Standard	NR_030210	NR_030210		Approved	hsa-mir-518a-1	uc021van.1	uc021van.1						19.37:g.54233129T>G					NR_030209.1						0	38	+						RNA	SNP	ENST00000385068.1	37																																																																																											0.423	MIR518A1-201	KNOWN	basic	miRNA	miRNA			192.559978	4	4	156	156	NR_030210		58	192.765311	192.765311	48	0.547170	0	0	0	1	0	58	48	0.54717
NLRP11	204801	broad.mit.edu	37	19	56307611	56307611	+	Missense_Mutation	SNP	A	A	G			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr19:56307611A>G	ENST00000589093.1	-	6	2270	c.2177T>C	c.(2176-2178)aTg>aCg	p.M726T	NLRP11_ENST00000592953.1_Missense_Mutation_p.M627T|NLRP11_ENST00000443188.1_Missense_Mutation_p.M726T|NLRP11_ENST00000360133.3_Missense_Mutation_p.M672T|NLRP11_ENST00000589824.2_Missense_Mutation_p.M672T			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	726							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ATCACATTTCATCAAGCTGTA	0.428																																						ENST00000443188.1											0			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66						c.(2176-2178)aTg>aCg	NLR family, pyrin domain containing 11						78.0	75.0	76.0					19																	56307611		2203	4300	6503	SO:0001583	missense	204801					ATP binding	g.chr19:56307611A>G	AY095145	AY095145	CCDS12935.1, CCDS74458.1	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	22945	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	12563287, 12019269	Standard	Standard	NM_145007	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	uc010ygf.2	P59045	P59045			ENST00000589093.1:c.2177T>C	19.37:g.56307611A>G	ENSP00000466285:p.Met726Thr		NLRP11_ENST00000589093.1_Missense_Mutation_p.M726T|NLRP11_ENST00000360133.3_Missense_Mutation_p.M672T|NLRP11_ENST00000589824.2_Missense_Mutation_p.M672T|NLRP11_ENST00000592953.1_Missense_Mutation_p.M627T	p.M726T	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	8	2887	-		Colorectal(82;0.0002)	726		C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.2177T>C	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	A	0.199	-1.046153	0.01997	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.11712	2.75;2.75	2.38	-2.16	0.07080	2.38	-2.16	0.07080	.	.	.	.	.	T	0.04497	0.0123	N	0.16790	0.44	0.09310	N	1	B;B	0.19073	0.033;0.019	B;B	0.24541	0.024;0.054	T	0.45352	-0.9267	9	0.13470	T	0.59	.	0.1628	0.00105	0.3169:0.2206:0.2466:0.216	.	726;672	P59045;P59045-2	NAL11_HUMAN;.	T	726;672	ENSP00000409898:M726T;ENSP00000353251:M672T	ENSP00000353251:M672T	M	-	2	0	0	NLRP11	60999423	60999423	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.003000	0.01463	-0.657000	0.05373	0.533000	0.62120	ATG		0.428	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1		105.972880	-11	-11	100	100	NM_145007		33	105.985635	105.985635	35	0.485294	0	0	0	1	0	33	35	0.485294
PRSS16	10279	broad.mit.edu	37	6	27222478	27222478	+	Missense_Mutation	SNP	C	C	G			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr6:27222478C>G	ENST00000230582.3	+	10	1172	c.1157C>G	c.(1156-1158)aCc>aGc	p.T386S	PRSS16_ENST00000421826.2_Missense_Mutation_p.T129S|PRSS16_ENST00000377456.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	386					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						ACAGATGTCACCTGTGAGAAT	0.512																																					NSCLC(178;1118 2105 17078 23587 44429)	ENST00000230582.3											0			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(1156-1158)aCc>aGc	protease, serine, 16 (thymus)						118.0	111.0	113.0					6																	27222478		2203	4300	6503	SO:0001583	missense	10279			protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	g.chr6:27222478C>G	AF052514	AF052514	CCDS4623.1	CCDS4623.1	6p21	2010-05-07			2010-05-07			ENSG00000112812	ENSG00000112812	ENSG00000112812	ENSG00000112812		"""Serine peptidases / Serine peptidases"""	"""Serine peptidases / Serine peptidases"""	9480	9480	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607169	607169						10527559	10527559	Standard	Standard	NM_005865	NM_005865		Approved	TSSP	uc003nja.3	uc003nja.3	Q9NQE7	Q9NQE7	OTTHUMG00000016167	OTTHUMG00000016167	ENST00000230582.3:c.1157C>G	6.37:g.27222478C>G	ENSP00000230582:p.Thr386Ser		PRSS16_ENST00000421826.2_Missense_Mutation_p.T129S|PRSS16_ENST00000377456.2_Intron	p.T386S	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN			10	1172	+			386		O75416	Missense_Mutation	SNP	ENST00000230582.3	37	c.1157C>G	CCDS4623.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.031250|4.031250	0.75504|0.75504	.|.	.|.	ENSG00000112812|ENSG00000112812	ENST00000485993;ENST00000475106|ENST00000421826;ENST00000230582	.|T;T	.|0.16073	.|2.37;2.37	4.68|4.68	4.68|4.68	0.58851|0.58851	4.68|4.68	4.68|4.68	0.58851|0.58851	.|.	.|0.287924	.|0.38326	.|N	.|0.001740	T|T	0.18130|0.18130	0.0435|0.0435	L|L	0.56340|0.56340	1.77|1.77	0.38406|0.38406	D|D	0.945797|0.945797	.|D;P	.|0.76494	.|0.999;0.95	.|P;P	.|0.61397	.|0.888;0.634	T|T	0.03268|0.03268	-1.1054|-1.1054	5|10	.|0.11794	.|T	.|0.64	-35.2509|-35.2509	13.307|13.307	0.60357|0.60357	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|129;386	.|F2Z2N5;Q9NQE7	.|.;TSSP_HUMAN	Q|S	138;164|129;386	.|ENSP00000404349:T129S;ENSP00000230582:T386S	.|ENSP00000230582:T386S	H|T	+|+	3|2	2|0	2|0	PRSS16|PRSS16	27330457|27330457	27330457|27330457	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	3.527000|3.527000	0.53517|0.53517	2.607000|2.607000	0.88179|0.88179	0.557000|0.557000	0.71058|0.71058	CAC|ACC		0.512	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2		87.448015	18	18	110	110			29	91.854307	91.854307	74	0.281553	0	0	0	1	0	29	74	0.281553
ZNF229	7772	broad.mit.edu	37	19	44933957	44933957	+	Silent	SNP	G	G	A			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr19:44933957G>A	ENST00000588931.1	-	6	1432	c.999C>T	c.(997-999)aaC>aaT	p.N333N	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000291187.4_Silent_p.N327N	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	333					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GTATGTGCGTGTTCTGTCTGA	0.502																																						ENST00000291187.4											0			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45						c.(979-981)aaC>aaT	zinc finger protein 229						65.0	63.0	63.0					19																	44933957		1946	4155	6101	SO:0001819	synonymous_variant	7772			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44933957G>A	AF192979	AF192979	CCDS42574.1, CCDS62706.1	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08			2013-01-08				ENSG00000278318		ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	"""Zinc fingers, C2H2-type"", ""-"""	13022	13022	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	XM_006723372	XM_006723372		Approved		uc002oze.1	uc002oze.1	Q9UJW7	Q9UJW7			ENST00000588931.1:c.999C>T	19.37:g.44933957G>A			ZNF229_ENST00000588931.1_Silent_p.N333N|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	p.N327N	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN			6	1303	-		Prostate(69;0.0352)	333		B2RWN3|Q59FV2|Q86WL9	Silent	SNP	ENST00000588931.1	37	c.981C>T	CCDS42574.1																																																																																									0.502	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1		70.123836	-7	-7	51	51	NM_014518		23	70.206213	70.206213	19	0.547619	0	0	0	1	0	23	19	0.547619
PRUNE2	158471	broad.mit.edu	37	9	79322557	79322557	+	Missense_Mutation	SNP	C	C	A			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr9:79322557C>A	ENST00000376718.3	-	8	4756	c.4633G>T	c.(4633-4635)Gca>Tca	p.A1545S	PRUNE2_ENST00000428286.1_Missense_Mutation_p.A1186S	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1545					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGACTTGATGCACTTGAATGA	0.448																																						ENST00000428286.1											0			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(3556-3558)Gca>Tca	prune homolog 2 (Drosophila)						68.0	59.0	62.0					9																	79322557		1568	3582	5150	SO:0001583	missense	158471			apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79322557C>A	BC019095	BC019095	CCDS47982.1	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772	ENSG00000106772	ENSG00000106772				25209	25209	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""olfaxin"""	"""olfaxin"""	610691	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	16288218	Standard	Standard	NM_015225	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	uc010mpk.3	Q8WUY3	Q8WUY3	OTTHUMG00000020047	OTTHUMG00000020047	ENST00000376718.3:c.4633G>T	9.37:g.79322557C>A	ENSP00000365908:p.Ala1545Ser		PRUNE2_ENST00000376718.3_Missense_Mutation_p.A1545S	p.A1186S			Q8WUY3	PRUN2_HUMAN			8	4756	-			1545		B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.3556G>T	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.17|18.17	3.563667|3.563667	0.65651|0.65651	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.55588|.	0.51;0.51|.	5.91|5.91	5.02|5.02	0.67125|0.67125	5.91|5.91	5.02|5.02	0.67125|0.67125	.|.	0.399646|.	0.21499|.	N|.	0.073550|.	T|T	0.69700|0.69700	0.3140|0.3140	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	D|.	0.54397|.	0.966|.	P|.	0.48738|.	0.588|.	T|T	0.68977|0.68977	-0.5267|-0.5267	10|5	0.72032|.	D|.	0.01|.	-3.8885|-3.8885	13.3784|13.3784	0.60752|0.60752	0.0:0.9275:0.0:0.0725|0.0:0.9275:0.0:0.0725	.|.	1545|.	Q8WUY3|.	PRUN2_HUMAN|.	S|F	1545;1186;1544|866	ENSP00000365908:A1545S;ENSP00000397425:A1186S|.	ENSP00000365908:A1545S|.	A|C	-|-	1|2	0|0	0|0	PRUNE2|PRUNE2	78512377|78512377	78512377|78512377	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.732000|0.732000	0.41865|0.41865	0.967000|0.967000	0.29344|0.29344	1.512000|1.512000	0.48834|0.48834	0.655000|0.655000	0.94253|0.94253	GCA|TGC		0.448	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2		3.807471	2	2	42	42	NM_138818		3	7.10587	7.105870	21	0.125000	1	0	0.115264	1	0.115264	3	21	0.125
GRIA1	2890	broad.mit.edu	37	5	153174266	153174266	+	Missense_Mutation	SNP	G	G	A			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr5:153174266G>A	ENST00000285900.5	+	14	2699	c.2356G>A	c.(2356-2358)Gag>Aag	p.E786K	GRIA1_ENST00000340592.5_Intron|GRIA1_ENST00000448073.4_Intron|GRIA1_ENST00000521843.2_Missense_Mutation_p.E717K|GRIA1_ENST00000518142.1_Missense_Mutation_p.E706K|GRIA1_ENST00000518783.1_Missense_Mutation_p.E796K	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	786					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CGACAAGGGCGAGTGCGGCAG	0.448																																						ENST00000285900.5											0			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(2356-2358)Gag>Aag	glutamate receptor, ionotropic, AMPA 1						58.0	60.0	60.0					5																	153174266		2203	4300	6503	SO:0001583	missense	0			synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153174266G>A			CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			2012-08-29			ENSG00000155511	ENSG00000155511	ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	4571	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			138248	138248		GLUR1		GLUR1		1652753, 1319477	1652753, 1319477	Standard	Standard	NM_000827	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	uc011dcy.2	P42261	P42261	OTTHUMG00000130148	OTTHUMG00000130148	ENST00000285900.5:c.2356G>A	5.37:g.153174266G>A	ENSP00000285900:p.Glu786Lys		GRIA1_ENST00000518783.1_Missense_Mutation_p.E796K|GRIA1_ENST00000518142.1_Missense_Mutation_p.E706K|GRIA1_ENST00000521843.2_Missense_Mutation_p.E717K|GRIA1_ENST00000340592.5_Intron|GRIA1_ENST00000448073.4_Intron	p.E786K	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		14	2699	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	786		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.2356G>A	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206268	0.79127	.	.	ENSG00000155511	ENST00000285900;ENST00000518142;ENST00000521843;ENST00000544794;ENST00000518783	T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16	5.17	5.17	0.71159	5.17	5.17	0.71159	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.51618	0.1685	L	0.38733	1.17	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.995	D;P;P	0.83275	0.996;0.872;0.784	T	0.47736	-0.9094	10	0.45353	T	0.12	.	18.0139	0.89232	0.0:0.0:1.0:0.0	.	796;706;786	E7ESV8;B7Z3F6;P42261	.;.;GRIA1_HUMAN	K	786;706;719;717;796	ENSP00000285900:E786K;ENSP00000427920:E706K;ENSP00000427864:E719K;ENSP00000442108:E717K;ENSP00000428994:E796K	ENSP00000285900:E786K	E	+	1	0	0	GRIA1	153154459	153154459	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.585000	0.98223	2.574000	0.86865	0.650000	0.86243	GAG		0.448	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3		32.079818	-24	-24	32	32			11	32.427412	32.427412	18	0.379310	0	0	0	1	0	11	18	0.37931
MEFV	4210	broad.mit.edu	37	16	3293588	3293588	+	Silent	SNP	C	C	T			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr16:3293588C>T	ENST00000219596.1	-	10	1938	c.1899G>A	c.(1897-1899)ccG>ccA	p.P633P	MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Silent_p.P422P|MEFV_ENST00000339854.4_Silent_p.P453P	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	633	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						CAAATCTTTGCGGGCCATCAG	0.517																																						ENST00000219596.1											0			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(1897-1899)ccG>ccA	Mediterranean fever						158.0	170.0	166.0					16																	3293588		2197	4300	6497	SO:0001819	synonymous_variant	4210			inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3293588C>T	AF018080	AF018080	CCDS10498.1, CCDS55981.1	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			2014-09-17			ENSG00000103313	ENSG00000103313	ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	"""Tripartite motif containing / Tripartite motif containing"""	6998	6998	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""pyrin"""	"""pyrin"""	608107	608107		MEF		MEF		9288094	9288094	Standard	Standard	NM_000243	NM_000243		Approved	FMF, TRIM20	uc002cun.1	uc002cun.1	O15553	O15553	OTTHUMG00000129324	OTTHUMG00000129324	ENST00000219596.1:c.1899G>A	16.37:g.3293588C>T			MEFV_ENST00000536379.1_Silent_p.P422P|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000339854.4_Silent_p.P453P	p.P633P	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			10	1938	-			633	B30.2/SPRY.	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	c.1899G>A	CCDS10498.1																																																																																									0.517	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1		-46.116794	-7	-7	227	227	NM_000243		5	7.722011	7.722011	208	0.023474	0	0	0	1	0	5	208	0.023474
KIR3DL2	3812	broad.mit.edu	37	19	55363677	55363677	+	Missense_Mutation	SNP	C	C	T	rs376049512		TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr19:55363677C>T	ENST00000326321.3	+	3	328	c.295C>T	c.(295-297)Cgc>Tgc	p.R99C	KIR3DL1_ENST00000402254.2_Intron|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.R99C	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	99	Ig-like C2-type 1.				cellular defense response (GO:0006968)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		TCGGGGTTCACGCCCACACTC	0.592																																						ENST00000326321.3											0			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23						c.(295-297)Cgc>Tgc	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2						65.0	59.0	61.0					19																	55363677		2162	4125	6287	SO:0001583	missense	3812			cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	g.chr19:55363677C>T	L41270	L41270	CCDS12906.1, CCDS58677.1	CCDS12906.1, CCDS58677.1	19q13.4	2014-05-22			2014-05-22			ENSG00000240403	ENSG00000240403	ENSG00000240403	ENSG00000240403		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6339	6339	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604947	604947						7716543, 8662091	7716543, 8662091	Standard	Standard	NM_006737	NM_006737		Approved	cl-5, nkat4, nkat4a, nkat4b, CD158K	uc002qho.4	uc002qho.4	P43630	P43630	OTTHUMG00000065935	OTTHUMG00000065935	ENST00000326321.3:c.295C>T	19.37:g.55363677C>T	ENSP00000325525:p.Arg99Cys		KIR3DL1_ENST00000402254.2_Intron|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.R99C	p.R99C	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	3	328	+			99	Ig-like C2-type 1.	Q13238|Q14947|Q14948|Q92684|Q95366|Q95367|Q95368	Missense_Mutation	SNP	ENST00000326321.3	37	c.295C>T	CCDS12906.1	.	.	.	.	.	.	.	.	.	.	c	7.544	0.661200	0.14645	.	.	ENSG00000240403	ENST00000326321;ENST00000270442	T;T	0.00753	5.74;5.74	1.62	-3.23	0.05109	1.62	-3.23	0.05109	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	3.044860	0.02291	U	0.070352	T	0.00724	0.0024	L	0.35854	1.095	0.09310	N	1	P;B	0.49090	0.919;0.006	B;B	0.35899	0.213;0.009	T	0.45175	-0.9279	10	0.72032	D	0.01	.	3.3555	0.07168	0.0:0.428:0.2244:0.3475	.	99;99	Q95366;P43630	.;KI3L2_HUMAN	C	99	ENSP00000325525:R99C;ENSP00000270442:R99C	ENSP00000270442:R99C	R	+	1	0	0	KIR3DL2	60055489	60055489	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-2.084000	0.01363	-1.094000	0.03054	0.184000	0.17185	CGC		0.592	KIR3DL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141241.1		83.191360	15	15	83	83			28	83.360764	83.360764	35	0.444444	0	0	0	1	0	28	35	0.444444
CHCHD10	400916	broad.mit.edu	37	22	24108202	24108202	+	Silent	SNP	G	G	A			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr22:24108202G>A	ENST00000484558.2	-	4	989	c.421C>T	c.(421-423)Ctg>Ttg	p.L141L	CHCHD10_ENST00000401675.3_Silent_p.L148L|CHCHD10_ENST00000520222.1_3'UTR			Q8WYQ3	CHC10_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 10	141					ATP biosynthetic process (GO:0006754)|negative regulation of ATP citrate synthase activity (GO:2000984)|oxidative phosphorylation (GO:0006119)	mitochondrion (GO:0005739)				large_intestine(2)|lung(1)	3						CTTCAGGGCAGGGAGCTCAGA	0.657																																						ENST00000484558.2											0			large_intestine(2)|lung(1)	3						c.(421-423)Ctg>Ttg	coiled-coil-helix-coiled-coil-helix domain containing 10						33.0	31.0	32.0					22																	24108202		2203	4300	6503	SO:0001819	synonymous_variant	400916				mitochondrion		g.chr22:24108202G>A	AB050774	AB050774	CCDS13815.1	CCDS13815.1	22q11.23	2011-03-28	2008-06-13	2008-06-13	2011-03-28	2008-06-13	2008-06-13	ENSG00000250479	ENSG00000250479	ENSG00000250479	ENSG00000250479		"""Coiled-coil-helix-coiled-coil-helix domain containing"""	"""Coiled-coil-helix-coiled-coil-helix domain containing"""	15559	15559	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615903	615903	"""chromosome 22 open reading frame 16"""	C22orf16	"""chromosome 22 open reading frame 16"""	C22orf16				Standard	Standard	XM_006724241	XM_006724241		Approved	N27C7-4	uc002zxw.3	uc002zxw.3	Q8WYQ3	Q8WYQ3	OTTHUMG00000150736	OTTHUMG00000150736	ENST00000484558.2:c.421C>T	22.37:g.24108202G>A			CHCHD10_ENST00000401675.3_Silent_p.L148L|CHCHD10_ENST00000520222.1_3'UTR	p.L141L			Q8WYQ3	CHC10_HUMAN			4	989	-			141		A8K0J5	Silent	SNP	ENST00000484558.2	37	c.421C>T	CCDS13815.1	.	.	.	.	.	.	.	.	.	.	G	9.291	1.050523	0.19827	.	.	ENSG00000250479	ENST00000521886	.	.	.	4.4	4.4	0.53042	4.4	4.4	0.53042	.	.	.	.	.	T	0.64549	0.2608	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63051	-0.6723	4	.	.	.	-18.9032	13.2546	0.60070	0.0:0.0:1.0:0.0	.	.	.	.	L	89	.	.	P	-	2	0	0	CHCHD10	22438202	22438202	1.000000	0.71417	0.998000	0.56505	0.933000	0.57130	1.565000	0.36386	2.400000	0.81607	0.485000	0.47835	CCT		0.657	CHCHD10-001	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000319870.2		2.301463	-3	-3	22	22	NM_213720		3	7.097725	7.097725	27	0.100000	0	0	0	1	0	3	27	0.1
SULT6B1	391365	broad.mit.edu	37	2	37398631	37398631	+	Missense_Mutation	SNP	G	G	A			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr2:37398631G>A	ENST00000535679.1	-	6	726	c.727C>T	c.(727-729)Cgt>Tgt	p.R243C	SULT6B1_ENST00000260637.3_Missense_Mutation_p.R205C|SULT6B1_ENST00000379149.2_Missense_Mutation_p.R139C|SULT6B1_ENST00000407963.1_Missense_Mutation_p.R205C			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	243						cytoplasm (GO:0005737)	sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				GACTTCGCACGCATGGCTTGG	0.483																																						ENST00000535679.1											0			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12						c.(727-729)Cgt>Tgt	sulfotransferase family, cytosolic, 6B, member 1						145.0	138.0	141.0					2																	37398631		2203	4300	6503	SO:0001583	missense	391365				cytoplasm	sulfotransferase activity	g.chr2:37398631G>A	AY289770, AY289774	AY289770, AY289774	CCDS33182.1	CCDS33182.1	2p22.2	2007-07-26			2007-07-26			ENSG00000138068	ENSG00000138068	ENSG00000138068	ENSG00000138068		"""Sulfotransferases, cytosolic"""	"""Sulfotransferases, cytosolic"""	33433	33433	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										14676822	14676822	Standard	Standard	XM_005264307	XM_005264307		Approved		uc002rpu.3	uc002rpu.3	Q6IMI4	Q6IMI4	OTTHUMG00000152160	OTTHUMG00000152160	ENST00000535679.1:c.727C>T	2.37:g.37398631G>A	ENSP00000444081:p.Arg243Cys		SULT6B1_ENST00000407963.1_Missense_Mutation_p.R205C|SULT6B1_ENST00000260637.3_Missense_Mutation_p.R205C|SULT6B1_ENST00000379149.2_Missense_Mutation_p.R139C	p.R243C			Q6IMI4	ST6B1_HUMAN			6	726	-		all_hematologic(82;0.248)	243		B2RTS7	Missense_Mutation	SNP	ENST00000535679.1	37	c.727C>T		.	.	.	.	.	.	.	.	.	.	G	13.71	2.319512	0.41096	.	.	ENSG00000138068	ENST00000535679;ENST00000379149;ENST00000260637;ENST00000407963	D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92	4.71	0.231	0.15377	4.71	0.231	0.15377	Sulfotransferase domain (1);	0.346678	0.27851	N	0.017600	D	0.86789	0.6017	M	0.73962	2.25	0.39269	D	0.964353	D	0.57571	0.98	P	0.49953	0.627	D	0.88133	0.2839	10	0.87932	D	0	.	13.4678	0.61266	0.0:0.0:0.2675:0.7325	.	243	Q6IMI4	ST6B1_HUMAN	C	243;139;205;205	ENSP00000444081:R243C;ENSP00000368444:R139C;ENSP00000260637:R205C;ENSP00000384950:R205C	ENSP00000260637:R205C	R	-	1	0	0	SULT6B1	37252135	37252135	0.139000	0.22563	0.857000	0.33713	0.230000	0.25150	0.294000	0.19047	0.181000	0.19994	-0.293000	0.09583	CGT		0.483	SULT6B1-203	KNOWN	basic|appris_principal	protein_coding	protein_coding			-18.998931	14	14	130	130	NM_001032377		4	7.223372	7.223372	108	0.035714	0	0	0	1	0	4	108	0.035714
HDLBP	3069	broad.mit.edu	37	2	242169044	242169044	+	Missense_Mutation	SNP	T	T	C			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr2:242169044T>C	ENST00000391975.1	-	28	4006	c.3779A>G	c.(3778-3780)aAg>aGg	p.K1260R	HDLBP_ENST00000310931.4_Missense_Mutation_p.K1260R|HDLBP_ENST00000427183.2_Missense_Mutation_p.K1227R|HDLBP_ENST00000391976.2_Missense_Mutation_p.K1260R	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1260					cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		AGGGAGGGTCTTGGGAGCCAC	0.557																																						ENST00000391975.1											0			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(3778-3780)aAg>aGg	high density lipoprotein binding protein						99.0	101.0	100.0					2																	242169044		2203	4300	6503	SO:0001583	missense	3069			cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242169044T>C			CCDS2547.1, CCDS58760.1	CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677	ENSG00000115677	ENSG00000115677				4857	4857	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			142695	142695	"""vigilin"""	VGL	"""vigilin"""	VGL		1318310, 8390966	1318310, 8390966	Standard	Standard	NM_005336	NM_005336		Approved	HBP	uc002waz.3	uc002waz.3	Q00341	Q00341	OTTHUMG00000133391	OTTHUMG00000133391	ENST00000391975.1:c.3779A>G	2.37:g.242169044T>C	ENSP00000375836:p.Lys1260Arg		HDLBP_ENST00000427183.2_Missense_Mutation_p.K1227R|HDLBP_ENST00000391976.2_Missense_Mutation_p.K1260R|HDLBP_ENST00000310931.4_Missense_Mutation_p.K1260R	p.K1260R	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	28	4006	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	1260		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	c.3779A>G	CCDS2547.1	.	.	.	.	.	.	.	.	.	.	T	9.248	1.040131	0.19669	.	.	ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183	T;T;T;T	0.19394	2.16;2.16;2.16;2.15	5.75	5.75	0.90469	5.75	5.75	0.90469	.	0.091629	0.85682	N	0.000000	T	0.18551	0.0445	L	0.40543	1.245	0.53688	D	0.999979	B;B	0.26635	0.155;0.007	B;B	0.24269	0.052;0.004	T	0.05632	-1.0873	10	0.13108	T	0.6	-43.8366	16.0671	0.80891	0.0:0.0:0.0:1.0	.	1227;1260	E7EM71;Q00341	.;VIGLN_HUMAN	R	1260;1260;1260;1227	ENSP00000375836:K1260R;ENSP00000375837:K1260R;ENSP00000312042:K1260R;ENSP00000399139:K1227R	ENSP00000312042:K1260R	K	-	2	0	0	HDLBP	241817717	241817717	1.000000	0.71417	1.000000	0.80357	0.086000	0.17979	6.151000	0.71806	2.192000	0.70111	0.460000	0.39030	AAG		0.557	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5		0.960431	-1	-1	50	50	NM_203346		4	9.693637	9.693637	45	0.081633	0	0	0	1	0	4	45	0.081633
EIF1AX	1964	broad.mit.edu	37	X	20152122	20152122	+	Missense_Mutation	SNP	A	A	T			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chrX:20152122A>T	ENST00000379607.5	-	4	411	c.208T>A	c.(208-210)Tgg>Agg	p.W70R	EIF1AX_ENST00000379593.1_Missense_Mutation_p.W42R|snoU2_19_ENST00000364722.1_RNA|snoU2-30_ENST00000365012.1_RNA	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	70	S1-like.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						GTATTTATCCAAACCTACAAA	0.323																																						ENST00000379607.5											0			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.(208-210)Tgg>Agg	eukaryotic translation initiation factor 1A, X-linked						55.0	47.0	49.0					X																	20152122		2203	4300	6503	SO:0001583	missense	1964				cytosol	translation initiation factor activity	g.chrX:20152122A>T	L18960	L18960	CCDS14196.1	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674	ENSG00000173674	ENSG00000173674				3250	3250	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300186	300186	"""eukaryotic translation initiation factor 1A, X chromosome"""	EIF4C, EIF1A	"""eukaryotic translation initiation factor 1A, X chromosome"""	EIF4C, EIF1A		8106356, 9381176	8106356, 9381176	Standard	Standard	NM_001412	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	uc004czt.3	P47813	P47813	OTTHUMG00000022704	OTTHUMG00000022704	ENST00000379607.5:c.208T>A	X.37:g.20152122A>T	ENSP00000368927:p.Trp70Arg		EIF1AX_ENST00000379593.1_Missense_Mutation_p.W42R	p.W70R	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN			4	411	-			70	S1-like.	B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Missense_Mutation	SNP	ENST00000379607.5	37	c.208T>A	CCDS14196.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.303181	0.81136	.	.	ENSG00000173674	ENST00000379607;ENST00000379593	T;T	0.52057	0.68;0.68	5.64	5.64	0.86602	5.64	5.64	0.86602	Nucleic acid-binding, OB-fold-like (1);RNA-binding domain, S1, IF1 type (2);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.76442	0.3988	H	0.94345	3.525	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.83363	0.0003	9	0.87932	D	0	-3.1686	13.4291	0.61044	1.0:0.0:0.0:0.0	.	70	P47813	IF1AX_HUMAN	R	70;42	ENSP00000368927:W70R;ENSP00000368912:W42R	ENSP00000368912:W42R	W	-	1	0	0	EIF1AX	20062043	20062043	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.481000	0.90437	1.888000	0.54679	0.486000	0.48141	TGG		0.323	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1		143.627102	-58	-58	68	68			41	151.294154	151.294154	4	0.911111	0	0	0	1	0	41	4	0.911111
FAT1	2195	broad.mit.edu	37	4	187542653	187542653	+	Missense_Mutation	SNP	G	G	A			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr4:187542653G>A	ENST00000441802.2	-	10	5296	c.5087C>T	c.(5086-5088)tCa>tTa	p.S1696L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1696	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATACACCACTGATGATTGACT	0.388										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2											0			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(5086-5088)tCa>tTa	FAT atypical cadherin 1						116.0	112.0	114.0					4																	187542653		1865	4116	5981	SO:0001583	missense	2195			actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187542653G>A	X87241	X87241	CCDS47177.1	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	"""Cadherins / Cadherin-related"""	3595	3595	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	"""cadherin-related family member 8"""	600976	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	8586420	Standard	Standard	XM_005262834	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	uc003izf.3	Q14517	Q14517	OTTHUMG00000160320	OTTHUMG00000160320	ENST00000441802.2:c.5087C>T	4.37:g.187542653G>A	ENSP00000406229:p.Ser1696Leu			p.S1696L	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	5296	-			1696	Cadherin 15.		Missense_Mutation	SNP	ENST00000441802.2	37	c.5087C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325464	0.81580	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.02631	4.22	4.99	4.99	0.66335	4.99	4.99	0.66335	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.08891	0.0220	L	0.33093	0.98	0.80722	D	1	D	0.63880	0.993	D	0.67548	0.952	T	0.44651	-0.9314	10	0.30854	T	0.27	.	18.8314	0.92141	0.0:0.0:1.0:0.0	.	1696	Q14517	FAT1_HUMAN	L	1696;1698	ENSP00000406229:S1696L	ENSP00000260147:S1698L	S	-	2	0	0	FAT1	187779647	187779647	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	9.601000	0.98297	2.751000	0.94390	0.650000	0.86243	TCA		0.388	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3		-5.324288	-5	-5	79	79	NM_005245		3	6.453752	6.453752	53	0.053571	0	0	0	1	0	3	53	0.053571
UNC79	57578	broad.mit.edu	37	14	94089125	94089139	+	In_Frame_Del	DEL	AGAGAGAGTACCTCG	AGAGAGAGTACCTCG	-	rs373959318		TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr14:94089125_94089139delAGAGAGAGTACCTCG	ENST00000393151.2	+	30	5546_5560	c.5546_5560delAGAGAGAGTACCTCG	c.(5545-5562)cagagagagtacctcgac>cac	p.1849_1854QREYLD>H	UNC79_ENST00000256339.4_In_Frame_Del_p.1672_1677QREYLD>H|UNC79_ENST00000553484.1_In_Frame_Del_p.1871_1876QREYLD>H|UNC79_ENST00000555664.1_In_Frame_Del_p.1849_1854QREYLD>H			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1849					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D1876N(1)|p.D1677N(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AGTGCTATCCAGAGAGAGTACCTCGACATCTCCTT	0.46																																						ENST00000553484.1											2	Substitution - Missense(2)	large_intestine(2)	breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(5611-5628)cagagagagtacctcgac>cac	unc-79 homolog (C. elegans)																																			SO:0001651	inframe_deletion	57578				integral to membrane		g.chr14:94089125_94089139delAGAGAGAGTACCTCG	AB037830	AB037830	CCDS9911.2	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958	ENSG00000133958	ENSG00000133958				19966	19966	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""KIAA1409"""	KIAA1409	"""KIAA1409"""	KIAA1409		20714347, 21040849	20714347, 21040849	Standard	Standard	NM_020818	NM_020818		Approved		uc001ybs.1	uc001ybs.1	Q9P2D8	Q9P2D8	OTTHUMG00000029783	OTTHUMG00000029783	ENST00000393151.2:c.5546_5560delAGAGAGAGTACCTCG	14.37:g.94089125_94089139delAGAGAGAGTACCTCG	ENSP00000376858:p.Gln1849_Asp1854delinsHis		UNC79_ENST00000555664.1_In_Frame_Del_p.1849_1854QREYLD>H|UNC79_ENST00000256339.4_In_Frame_Del_p.1672_1677QREYLD>H|UNC79_ENST00000393151.2_In_Frame_Del_p.1849_1854QREYLD>H	p.1871_1876QREYLD>H			Q9P2D8	UNC79_HUMAN			31	5766_5780	+			1849		B5MDL6|Q6ZUT7	In_Frame_Del	DEL	ENST00000393151.2	37	c.5612_5626delAGAGAGAGTACCTCG																																																																																										0.460	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	.	.	-13	-13	45	45	XM_028395		8			23	0.26						8	23	0.26
ZNF839	55778	ucsc.edu	37	14	102802138	102802138	+	Missense_Mutation	SNP	T	T	C			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr14:102802138T>C	ENST00000558850.1	+	5	1624	c.1274T>C	c.(1273-1275)cTg>cCg	p.L425P	ZNF839_ENST00000262236.5_Missense_Mutation_p.L425P|ZNF839_ENST00000442396.2_Missense_Mutation_p.L541P|ZNF839_ENST00000559185.1_Missense_Mutation_p.L425P	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	425							metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						AGTTCTGGTCTGTGTTCCCAG	0.398																																																	0																	87.0	81.0	83.0					14																	102802138		1841	4087	5928	SO:0001583	missense	55778							AK093342	AK093342	CCDS45164.1, CCDS58336.1	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976	ENSG00000022976	ENSG00000022976				20345	20345	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""chromosome 14 open reading frame 131"""	C14orf131	"""chromosome 14 open reading frame 131"""	C14orf131				Standard	Standard	NM_018335	NM_018335		Approved		uc010awk.2	uc010awk.2	A8K0R7	A8K0R7			ENST00000558850.1:c.1274T>C	14.37:g.102802138T>C	ENSP00000453363:p.Leu425Pro																	B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Missense_Mutation	SNP	ENST00000558850.1	37		CCDS58336.1	.	.	.	.	.	.	.	.	.	.	T	13.17	2.157787	0.38119	.	.	ENSG00000022976	ENST00000442396;ENST00000262236;ENST00000398436	T;T	0.19532	2.14;2.15	5.15	1.71	0.24356	5.15	1.71	0.24356	.	0.780131	0.11778	N	0.530467	T	0.10937	0.0267	N	0.16130	0.375	0.09310	N	1	B;B;B;B	0.09022	0.002;0.0;0.0;0.0	B;B;B;B	0.10450	0.005;0.0;0.001;0.0	T	0.27054	-1.0085	10	0.45353	T	0.12	.	4.0925	0.09976	0.1593:0.3954:0.0:0.4453	.	541;425;304;425	A8K0R7-5;A8K0R7-2;Q9NT83;A8K0R7	.;.;.;ZN839_HUMAN	P	541;425;93	ENSP00000399863:L541P;ENSP00000262236:L425P	ENSP00000262236:L425P	L	+	2	0	0	ZNF839	101871891	101871891	0.000000	0.05858	0.003000	0.11579	0.216000	0.24613	0.481000	0.22260	0.522000	0.28464	-0.508000	0.04489	CTG		0.398	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2			18	18	50	50	NM_018335		4			26							4	26	
BAGE2	85319	broad.mit.edu	37	21	11085920	11085922	+	RNA	DEL	ACC	ACC	-	rs36147384|rs74415263		TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr21:11085920_11085922delACC	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)		catcaccactaccaccaccacca	0.547																																						ENST00000470054.1											0											B melanoma antigen family, member 2																																					85319						g.chr21:11085920_11085922delACC	AF218570	AF218570			21p	2009-03-13			2009-03-13			ENSG00000187172	ENSG00000187172	ENSG00000187172	ENSG00000187172				15723	15723	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""	"""cancer/testis antigen family 2, member 2"""								12461691	12461691	Standard	Standard	NM_182482	NM_182482		Approved	CT2.2			Q86Y30	Q86Y30	OTTHUMG00000074128	OTTHUMG00000074128		21.37:g.11085929_11085931delACC									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	DEL	ENST00000470054.1	37																																																																																											0.547	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	.	.	2	2	7	7	NM_182482		2			4	0.33						2	4	0.33
