#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
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								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	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.5087C>T	4.37:g.187542653G>A	ENSP00000406229:p.Ser1696Leu	HNSCC(5;0.00058)	Somatic					p.S1696L	NM_005245.3	NP_005236.2	WXS	Illumina GAIIx	Phase_I	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	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	FAT1	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	NM_005245		3	53	0	0	0	1	0	3	53				
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								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	snoU2_19_ENST00000364722.1_RNA|EIF1AX_ENST00000379593.1_Missense_Mutation_p.W42R|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	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674			3250	protein-coding gene	gene with protein product		300186	"""eukaryotic translation initiation factor 1A, X chromosome"""	EIF4C, EIF1A		8106356, 9381176	Standard	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	P47813	OTTHUMG00000022704	ENST00000379607.5:c.208T>A	X.37:g.20152122A>T	ENSP00000368927:p.Trp70Arg		Somatic				EIF1AX_ENST00000379593.1_Missense_Mutation_p.W42R	p.W70R	NM_001412.3	NP_001403.1	WXS	Illumina GAIIx	Phase_I	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	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	EIF1AX	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			41	4	0	0	0	1	0	41	4				
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								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	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.2841A>G	7.37:g.51095952T>C			Somatic				COBL_ENST00000265136.7_Silent_p.G947G	p.G1029G			WXS	Illumina GAIIx	Phase_I	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	NM_015198		14	13	0	0	0	1	0	14	13				
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								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	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.196G>C	13.37:g.33226028G>C	ENSP00000313851:p.Asp66His		Somatic					p.D66H	NM_015032.3	NP_055847.1	WXS	Illumina GAIIx	Phase_I	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	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	PDS5B	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	NM_015032		52	85	0	0	0	1	0	52	85				
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								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_ENST00000518142.1_Missense_Mutation_p.E706K|GRIA1_ENST00000518783.1_Missense_Mutation_p.E796K|GRIA1_ENST00000521843.2_Missense_Mutation_p.E717K|GRIA1_ENST00000448073.4_Intron	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	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						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	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2356G>A	5.37:g.153174266G>A	ENSP00000285900:p.Glu786Lys		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	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	GRIA1	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			11	18	0	0	0	1	0	11	18				
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								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	AC005262.3_ENST00000587701.1_RNA|AC005262.2_ENST00000585980.1_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	Mis	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""			E			uveal melanoma		82	Substitution - Missense(82)	p.Q209L(80)|p.Q209P(2)	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	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256			4379	protein-coding gene	gene with protein product		139313	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	Standard	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		Somatic				AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	p.Q209L	NM_002067.2	NP_002058.2	WXS	Illumina GAIIx	Phase_I	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	.	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	GNA11	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	NM_002067		23	31	0	0	0	1	0	23	31				
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								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_ENST00000391976.2_Missense_Mutation_p.K1260R|HDLBP_ENST00000427183.2_Missense_Mutation_p.K1227R	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	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.3779A>G	2.37:g.242169044T>C	ENSP00000375836:p.Lys1260Arg		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	.	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	HDLBP	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	NM_203346		4	45	0	0	0	1	0	4	45				
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								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	ENSG00000207803	ENSG00000207803		"""ncRNAs / Micro RNAs"""	32120	non-coding RNA	RNA, micro				MIRN518A-1, MIRN518A1			Standard	NR_030210		Approved	hsa-mir-518a-1	uc021van.1				19.37:g.54233129T>G			Somatic						NR_030209.1		WXS	Illumina GAIIx	Phase_I					0	38	+									RNA	SNP	ENST00000385068.1	37																																																																																						0.423	MIR518A1-201	KNOWN	basic	miRNA	miRNA		NR_030210		58	48	0	0	0	1	0	58	48				
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								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_ENST00000371209.5_Silent_p.H436H|TCTN3_ENST00000265993.9_Intron|TCTN3_ENST00000430368.2_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	CCDS31258.2, CCDS44461.1	10q24.1	2014-01-28	2007-08-20	2007-08-20	ENSG00000119977	ENSG00000119977		"""Tectonic proteins"""	24519	protein-coding gene	gene with protein product		613847	"""chromosome 10 open reading frame 61"""	C10orf61		12975309	Standard	NM_015631		Approved	DKFZP564D116, TECT3, JBTS18	uc001klb.4	Q6NUS6	OTTHUMG00000018814	ENST00000371217.5:c.1203+104T>C	10.37:g.97443174A>G			Somatic				TCTN3_ENST00000265993.9_Intron|TCTN3_ENST00000371217.5_Intron|TCTN3_ENST00000430368.2_Intron	p.H436H			WXS	Illumina GAIIx	Phase_I	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	NM_015631		2	4	0	0	0	1	0	2	4				
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								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)	p.D268D(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	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.804C>A	5.37:g.140719342C>A	ENSP00000378077:p.Asp268Glu		Somatic				PCDHGA1_ENST00000517417.1_Intron	p.D268E	NM_018915.2	NP_061738.1	WXS	Illumina GAIIx	Phase_I			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	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	PCDHGA2	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	NM_018915		45	47	1	0	1.41504e-22	1	1.47935e-22	45	47				
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								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	CCDS13815.1	22q11.23	2011-03-28	2008-06-13	2008-06-13	ENSG00000250479	ENSG00000250479		"""Coiled-coil-helix-coiled-coil-helix domain containing"""	15559	protein-coding gene	gene with protein product		615903	"""chromosome 22 open reading frame 16"""	C22orf16			Standard	XM_006724241		Approved	N27C7-4	uc002zxw.3	Q8WYQ3	OTTHUMG00000150736	ENST00000484558.2:c.421C>T	22.37:g.24108202G>A			Somatic				CHCHD10_ENST00000401675.3_Silent_p.L148L|CHCHD10_ENST00000520222.1_3'UTR	p.L141L			WXS	Illumina GAIIx	Phase_I	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	.	.	.	.	.	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	CHCHD10	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	NM_213720		3	27	0	0	0	1	0	3	27				
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								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	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1640G>A	19.37:g.51021330C>T	ENSP00000471502:p.Arg547Gln		Somatic				LRRC4B_ENST00000389201.3_Missense_Mutation_p.R547Q	p.R547Q			WXS	Illumina GAIIx	Phase_I	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	.	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	LRRC4B	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	NM_001080457		9	17	0	0	0	1	0	9	17				
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								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_ENST00000589824.2_Missense_Mutation_p.M672T|NLRP11_ENST00000360133.3_Missense_Mutation_p.M672T|NLRP11_ENST00000443188.1_Missense_Mutation_p.M726T			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	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.2177T>C	19.37:g.56307611A>G	ENSP00000466285:p.Met726Thr		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	.	.	.	.	.	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	NLRP11	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	NM_145007		33	35	0	0	0	1	0	33	35				
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								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_ENST00000339854.4_Silent_p.P453P|MEFV_ENST00000536379.1_Silent_p.P422P	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	Colchicine(DB01394)						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	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1899G>A	16.37:g.3293588C>T			Somatic				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	WXS	Illumina GAIIx	Phase_I	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	NM_000243		5	208	0	0	0	1	0	5	208				
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								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_ENST00000538174.2_5'UTR|PTPRB_ENST00000334414.6_Silent_p.S158S|PTPRB_ENST00000551525.1_Silent_p.S157S			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	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000550358.1:c.474G>A	12.37:g.71016404C>T			Somatic				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	WXS	Illumina GAIIx	Phase_I	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			5	4	0	0	0	1	0	5	4				
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								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	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.4633G>T	9.37:g.79322557C>A	ENSP00000365908:p.Ala1545Ser		Somatic				PRUNE2_ENST00000376718.3_Missense_Mutation_p.A1545S	p.A1186S			WXS	Illumina GAIIx	Phase_I	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	.|.	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	PRUNE2|PRUNE2	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	NM_138818		3	21	1	0	0.115264	1	0.115264	3	21				
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								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	CCDS12906.1, CCDS58677.1	19q13.4	2014-05-22			ENSG00000240403	ENSG00000240403		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6339	protein-coding gene	gene with protein product		604947				7716543, 8662091	Standard	NM_006737		Approved	cl-5, nkat4, nkat4a, nkat4b, CD158K	uc002qho.4	P43630	OTTHUMG00000065935	ENST00000326321.3:c.295C>T	19.37:g.55363677C>T	ENSP00000325525:p.Arg99Cys		Somatic				KIR3DL1_ENST00000402254.2_Intron|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.R99C	p.R99C	NM_006737.3	NP_006728.2	WXS	Illumina GAIIx	Phase_I	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	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	KIR3DL2	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			28	35	0	0	0	1	0	28	35				
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								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	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"""Serine peptidases / Serine peptidases"""	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.1157C>G	6.37:g.27222478C>G	ENSP00000230582:p.Thr386Ser		Somatic				PRSS16_ENST00000421826.2_Missense_Mutation_p.T129S|PRSS16_ENST00000377456.2_Intron	p.T386S	NM_005865.3	NP_005856.1	WXS	Illumina GAIIx	Phase_I	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	.|.	.|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	PRSS16|PRSS16	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			29	74	0	0	0	1	0	29	74				
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								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_ENST00000610033.1_Intron|NFATC2_ENST00000609943.1_Missense_Mutation_p.A39T|NFATC2_ENST00000371564.3_Missense_Mutation_p.A59T|NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000414705.1_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																		EWSR1/NFATC2(9)	2	Substitution - Missense(2)	p.A59T(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	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.175G>A	20.37:g.50140605C>T	ENSP00000379330:p.Ala59Thr		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	.	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	NFATC2	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	NM_012340		3	46	0	0	0	1	0	3	46				
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								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_ENST00000379149.2_Missense_Mutation_p.R139C|SULT6B1_ENST00000407963.1_Missense_Mutation_p.R205C|SULT6B1_ENST00000260637.3_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	CCDS33182.1	2p22.2	2007-07-26			ENSG00000138068	ENSG00000138068		"""Sulfotransferases, cytosolic"""	33433	protein-coding gene	gene with protein product						14676822	Standard	XM_005264307		Approved		uc002rpu.3	Q6IMI4	OTTHUMG00000152160	ENST00000535679.1:c.727C>T	2.37:g.37398631G>A	ENSP00000444081:p.Arg243Cys		Somatic				SULT6B1_ENST00000407963.1_Missense_Mutation_p.R205C|SULT6B1_ENST00000260637.3_Missense_Mutation_p.R205C|SULT6B1_ENST00000379149.2_Missense_Mutation_p.R139C	p.R243C			WXS	Illumina GAIIx	Phase_I	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	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	SULT6B1	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		NM_001032377		4	108	0	0	0	1	0	4	108				
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								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	ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA|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	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.999C>T	19.37:g.44933957G>A			Somatic				ZNF229_ENST00000588931.1_Silent_p.N333N|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	p.N327N	NM_001278510.1	NP_001265439.1	WXS	Illumina GAIIx	Phase_I	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	NM_014518		23	19	0	0	0	1	0	23	19				
CYP4Z2P	163720	broad.mit.edu	37	1	47310359	47310360	+	RNA	INS	-	-	T	rs372212671		TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr1:47310359_47310360insT	ENST00000505841.1	-	0	1269					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										CAAAAACAAAACCCTAGATATT	0.421																																						ENST00000505841.1																			0																																																			0							g.chr1:47310359_47310360insT	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47310359_47310360insT			Somatic						NR_002788.2		WXS	Illumina GAIIx	Phase_I					0	1269	-								Q66ZJ5	RNA	INS	ENST00000505841.1	37																																																																																						0.421	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1	NR_002788		3	6						3	6	---	---	---	---
CELSR2	1952	broad.mit.edu	37	1	109792735	109792736	+	In_Frame_Ins	INS	-	-	CGC	rs377757908|rs59201433|rs144034706	byFrequency	TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr1:109792735_109792736insCGC	ENST00000271332.3	+	1	95_96	c.34_35insCGC	c.(34-36)acg>aCGCcg	p.16_17insP		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	16					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCCCCTCCCAACgccgccgccg	0.752														2846	0.568291	0.4198	0.6311	5008	,	,		10222	0.5298		0.7276	False		,,,				2504	0.6002				NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(34-36)acg>aCGCcg		cadherin, EGF LAG seven-pass G-type receptor 2				1363,1439		473,417,511						3.0	0.1		dbSNP_130	6	4135,1897		1679,777,560	no	coding	CELSR2	NM_001408.2		2152,1194,1071	A1A1,A1R,RR		31.4489,48.6438,37.7632				5498,3336				SO:0001652	inframe_insertion	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109792735_109792736insCGC	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.47_49dupCGC	1.37:g.109792742_109792744dupCGC	ENSP00000271332:p.Pro16_Pro16dup		Somatic					p.16_17insP	NM_001408.2	NP_001399.1	WXS	Illumina GAIIx	Phase_I	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	95_96	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	16					Q5T2Y7|Q92566	In_Frame_Ins	INS	ENST00000271332.3	37	c.34_35insCGC	CCDS796.1																																																																																				0.752	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		6	8						6	8	---	---	---	---
MARCKS	4082	broad.mit.edu	37	6	114181210	114181210	+	Frame_Shift_Del	DEL	A	A	-			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr6:114181210delA	ENST00000368635.4	+	2	835	c.454delA	c.(454-456)aaafs	p.K156fs		NM_002356.5	NP_002347.5	P29966	MARCS_HUMAN	myristoylated alanine-rich protein kinase C substrate	156	Calmodulin-binding (PSD).				energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|germinal vesicle (GO:0042585)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|calmodulin binding (GO:0005516)	p.K155fs*12(1)		breast(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)		CGAGACCCCGAAAAAAAAAAA	0.612																																						ENST00000368635.4																			1	Deletion - Frameshift(1)	p.K155fs*12(1)	large_intestine(1)	breast(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(454-456)aaafs		myristoylated alanine-rich protein kinase C substrate							9.0	11.0	10.0					6																	114181210		1892	3986	5878	SO:0001589	frameshift_variant	4082				energy reserve metabolic process|regulation of insulin secretion	actin cytoskeleton|plasma membrane	actin filament binding|calmodulin binding	g.chr6:114181210delA	M68956	CCDS5101.1	6q21	2014-04-10	2001-12-17	2001-12-20	ENSG00000155130	ENSG00000277443			6759	protein-coding gene	gene with protein product		177061	"""myristoylated alanine-rich protein kinase C substrate (MARCKS, 80K-L)"""	MACS		1560845, 8420923	Standard	NM_002356		Approved	PKCSL, 80K-L	uc003pvy.4	P29966	OTTHUMG00000188327	ENST00000368635.4:c.454delA	6.37:g.114181210delA	ENSP00000357624:p.Lys156fs		Somatic					p.K156fs	NM_002356.5	NP_002347.5	WXS	Illumina GAIIx	Phase_I	P29966	MARCS_HUMAN		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)	2	835	+		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)	156			Calmodulin-binding (PSD).		E1P560|Q2LA83|Q5TDB7	Frame_Shift_Del	DEL	ENST00000368635.4	37	c.454delA	CCDS5101.1																																																																																				0.612	MARCKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041903.1	NM_002356		7	39						7	39	---	---	---	---
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								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_ENST00000555664.1_In_Frame_Del_p.1849_1854QREYLD>H|UNC79_ENST00000553484.1_In_Frame_Del_p.1871_1876QREYLD>H|UNC79_ENST00000256339.4_In_Frame_Del_p.1672_1677QREYLD>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)	p.D1876N(1)|p.D1677N(1)	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	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.5546_5560delAGAGAGAGTACCTCG	14.37:g.94089125_94089139delAGAGAGAGTACCTCG	ENSP00000376858:p.Gln1849_Asp1854delinsHis		Somatic				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			WXS	Illumina GAIIx	Phase_I	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	XM_028395		8	23						8	23	---	---	---	---
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								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		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.11085929_11085931delACC			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	DEL	ENST00000470054.1	37																																																																																						0.547	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		2	4						2	4	---	---	---	---
