#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
LGSN	51557	broad.mit.edu	37	6	63990360	63990360	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr6:63990360G>A	ENST00000370657.4	-	4	1129	c.1096C>T	c.(1096-1098)Cga>Tga	p.R366*	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	366					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TAACGCTTTCGGCAGCTAACA	0.478																																						ENST00000370657.4																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1096-1098)Cga>Tga		lengsin, lens protein with glutamine synthetase domain	L-Glutamic Acid(DB00142)						134.0	134.0	134.0					6																	63990360		2203	4300	6503	SO:0001587	stop_gained	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63990360G>A	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.1096C>T	6.37:g.63990360G>A	ENSP00000359691:p.Arg366*					LGSN_ENST00000370658.5_3'UTR	p.R366*			Q5TDP6	LGSN_HUMAN			4	1129	-			366					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Nonsense_Mutation	SNP	ENST00000370657.4	37	c.1096C>T	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.031718	0.35797	.	.	ENSG00000146166	ENST00000370657	.	.	.	5.77	2.65	0.31530	.	0.103374	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-5.031	15.5526	0.76164	0.0:0.0:0.6316:0.3684	.	.	.	.	X	366	.	ENSP00000359691:R366X	R	-	1	2	LGSN	64048319	1.000000	0.71417	0.886000	0.34754	0.032000	0.12392	2.232000	0.43018	0.763000	0.33175	-0.181000	0.13052	CGA		0.478	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		4	131	0	0	0	1	0	4	131				
AGAP11	119385	broad.mit.edu	37	10	88769150	88769150	+	RNA	SNP	C	C	T	rs201722704		TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr10:88769150C>T	ENST00000444431.1	+	0	3750				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.10_ENST00000451760.1_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										TTCCCGTGTGCGATCTCTGGA	0.537																																						ENST00000444431.1																			0													ankyrin repeat and GTPase domain Arf GTPase activating protein 11							142.0	161.0	155.0					10																	88769150		2203	4298	6501			119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88769150C>T			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88769150C>T						RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA				Q8TF27	AGA11_HUMAN			0	3750	+								B9EIP7|D3DWE4	RNA	SNP	ENST00000444431.1	37																																																																																						0.537	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		4	251	0	0	0	1	0	4	251				
SSH2	85464	broad.mit.edu	37	17	27963447	27963447	+	Missense_Mutation	SNP	T	T	C			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr17:27963447T>C	ENST00000269033.3	-	14	1871	c.1720A>G	c.(1720-1722)Aaa>Gaa	p.K574E	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.K601E	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	574					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATTAAGGCTTTGGATGCATGG	0.403																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1720-1722)Aaa>Gaa		slingshot protein phosphatase 2							98.0	92.0	94.0					17																	27963447		2203	4300	6503	SO:0001583	missense	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27963447T>C	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.1720A>G	17.37:g.27963447T>C	ENSP00000269033:p.Lys574Glu					RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.K601E	p.K574E	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN			14	1871	-			574					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	c.1720A>G	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	T	12.02	1.813490	0.32053	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.20069	2.1;2.1	6.16	5.06	0.68205	.	0.435246	0.25795	N	0.028256	T	0.11580	0.0282	L	0.38838	1.175	0.80722	D	1	B;B	0.11235	0.004;0.002	B;B	0.13407	0.009;0.004	T	0.21724	-1.0237	10	0.02654	T	1	-20.365	3.5276	0.07765	0.0:0.2969:0.0:0.7031	.	601;574	F5H527;Q76I76	.;SSH2_HUMAN	E	574;601	ENSP00000269033:K574E;ENSP00000444743:K601E	ENSP00000269033:K574E	K	-	1	0	SSH2	24987573	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.816000	0.55658	2.367000	0.80283	0.528000	0.53228	AAA		0.403	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		3	52	0	0	0	1	0	3	52				
PTGR2	145482	broad.mit.edu	37	14	74346776	74346776	+	Missense_Mutation	SNP	A	A	G			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr14:74346776A>G	ENST00000555661.1	+	7	893	c.748A>G	c.(748-750)Atc>Gtc	p.I250V	RP5-1021I20.4_ENST00000556551.2_Missense_Mutation_p.I180V|PTGR2_ENST00000555228.1_Missense_Mutation_p.I250V|PTGR2_ENST00000553813.1_Missense_Mutation_p.I116V|PTGR2_ENST00000267568.4_Missense_Mutation_p.I250V			Q8N8N7	PTGR2_HUMAN	prostaglandin reductase 2	250					prostaglandin metabolic process (GO:0006693)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9					Indomethacin(DB00328)	GAACAGCCACATCATCCTGTG	0.413																																					Esophageal Squamous(98;1155 1417 16452 47043 47872)	ENST00000555661.1																			0				NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9						c.(748-750)Atc>Gtc		prostaglandin reductase 2							117.0	108.0	111.0					14																	74346776		2203	4300	6503	SO:0001583	missense	145482				prostaglandin metabolic process		15-oxoprostaglandin 13-oxidase activity|zinc ion binding	g.chr14:74346776A>G	AK096410	CCDS9820.1	14q24.1-q24.2	2008-06-04	2008-06-02	2008-06-03		ENSG00000140043			20149	protein-coding gene	gene with protein product		608642	"""zinc binding alcohol dehydrogenase domain containing 1"""	ZADH1		17449869	Standard	NM_152444		Approved	FLJ39091	uc001xow.3	Q8N8N7		ENST00000555661.1:c.748A>G	14.37:g.74346776A>G	ENSP00000452280:p.Ile250Val					PTGR2_ENST00000267568.4_Missense_Mutation_p.I250V|PTGR2_ENST00000555228.1_Missense_Mutation_p.I250V|RP5-1021I20.4_ENST00000553813.1_Missense_Mutation_p.I116V|PTGR2_ENST00000554885.1_Missense_Mutation_p.I201V	p.I250V			Q8N8N7	PTGR2_HUMAN			7	893	+			250					Q3L8A4|Q6MZH8	Missense_Mutation	SNP	ENST00000555661.1	37	c.748A>G	CCDS9820.1	.	.	.	.	.	.	.	.	.	.	A	10.25	1.297852	0.23650	.	.	ENSG00000140043;ENSG00000140043;ENSG00000140043;ENSG00000140043;ENSG00000258653	ENST00000555228;ENST00000555661;ENST00000267568;ENST00000554885;ENST00000553813	T;T;T;T;T	0.03831	3.79;3.79;3.79;3.79;3.79	5.63	3.3	0.37823	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.215617	0.48767	N	0.000179	T	0.02848	0.0085	N	0.12569	0.235	0.47547	D	0.999455	B	0.06786	0.001	B	0.12156	0.007	T	0.50065	-0.8871	10	0.18710	T	0.47	-6.1229	9.327	0.37999	0.8072:0.0:0.1928:0.0	.	250	Q8N8N7	PTGR2_HUMAN	V	250;250;250;201;116	ENSP00000450975:I250V;ENSP00000452280:I250V;ENSP00000267568:I250V;ENSP00000451158:I201V;ENSP00000450824:I116V	ENSP00000267568:I250V	I	+	1	0	RP5-1021I20.4;PTGR2	73416529	1.000000	0.71417	0.998000	0.56505	0.922000	0.55478	2.557000	0.45871	0.967000	0.38186	0.482000	0.46254	ATC		0.413	PTGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412575.1			14	33	0	0	0	1	0	14	33				
GUF1	60558	broad.mit.edu	37	4	44682800	44682800	+	Missense_Mutation	SNP	G	G	A			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr4:44682800G>A	ENST00000281543.5	+	3	561	c.367G>A	c.(367-369)Gca>Aca	p.A123T	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						AGCACAGACAGCATCTCTCTT	0.323																																						ENST00000281543.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						c.(367-369)Gca>Aca		GUF1 GTPase homolog (S. cerevisiae)							84.0	84.0	84.0					4																	44682800		2195	4287	6482	SO:0001583	missense	60558				translation	mitochondrial inner membrane	GTP binding|GTPase activity	g.chr4:44682800G>A		CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.367G>A	4.37:g.44682800G>A	ENSP00000281543:p.Ala123Thr					GUF1_ENST00000506793.1_3'UTR	p.A123T	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN			3	561	+			123						Missense_Mutation	SNP	ENST00000281543.5	37	c.367G>A	CCDS3468.1	.	.	.	.	.	.	.	.	.	.	G	30	5.054975	0.93793	.	.	ENSG00000151806	ENST00000281543	T	0.70631	-0.5	4.99	4.99	0.66335	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	T	0.80121	0.4565	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.82202	-0.0574	10	0.87932	D	0	-15.0547	17.6231	0.88087	0.0:0.0:1.0:0.0	.	123	Q8N442	GUF1_HUMAN	T	123	ENSP00000281543:A123T	ENSP00000281543:A123T	A	+	1	0	GUF1	44377557	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.420000	0.97426	2.455000	0.83008	0.557000	0.71058	GCA		0.323	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250469.3	NM_021927		7	22	0	0	0	1	0	7	22				
COL11A2	1302	broad.mit.edu	37	6	33143390	33143390	+	Silent	SNP	C	C	T	rs375026901		TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr6:33143390C>T	ENST00000374708.4	-	28	2337	c.2079G>A	c.(2077-2079)ccG>ccA	p.P693P	COL11A2_ENST00000374713.1_Silent_p.P732P|COL11A2_ENST00000361917.1_Silent_p.P672P|COL11A2_ENST00000374714.1_Silent_p.P753P|COL11A2_ENST00000374712.1_Silent_p.P698P|COL11A2_ENST00000357486.1_Silent_p.P758P|COL11A2_ENST00000341947.2_Silent_p.P779P|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000395197.1_Silent_p.P719P	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	779	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGTCTCCAGTCGGTCCAGTGC	0.647																																					Melanoma(1;90 116 3946 5341 17093)	ENST00000341947.2																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(2335-2337)ccG>ccA		collagen, type XI, alpha 2		C	,,	0,3020		0,0,1510	107.0	92.0	97.0		2016,2337,2079	-1.9	1.0	6		97	1,5417		0,1,2708	no	coding-synonymous,coding-synonymous,coding-synonymous	COL11A2	NM_080679.2,NM_080680.2,NM_080681.2	,,	0,1,4218	TT,TC,CC		0.0185,0.0,0.0119	,,	672/1630,779/1737,693/1651	33143390	1,8437	1510	2709	4219	SO:0001819	synonymous_variant	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33143390C>T	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.2079G>A	6.37:g.33143390C>T						COL11A2_ENST00000395197.1_Silent_p.P719P|COL11A2_ENST00000374714.1_Silent_p.P753P|COL11A2_ENST00000361917.1_Silent_p.P672P|COL11A2_ENST00000357486.1_Silent_p.P758P|COL11A2_ENST00000374713.1_Silent_p.P732P|COL11A2_ENST00000374712.1_Silent_p.P698P|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374708.4_Silent_p.P693P	p.P779P	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN			30	2564	-			779			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Silent	SNP	ENST00000374708.4	37	c.2337G>A	CCDS43452.1																																																																																				0.647	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			4	84	0	0	0	1	0	4	84				
TCF7L2	6934	broad.mit.edu	37	10	114925492	114925492	+	Missense_Mutation	SNP	G	G	A	rs534110993		TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr10:114925492G>A	ENST00000355995.4	+	15	2128	c.1621G>A	c.(1621-1623)Gac>Aac	p.D541N	TCF7L2_ENST00000543371.1_Missense_Mutation_p.D524N|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000369397.4_Missense_Mutation_p.D518N|TCF7L2_ENST00000542695.1_Missense_Mutation_p.D257N|TCF7L2_ENST00000545257.1_Missense_Mutation_p.D541N|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000355717.4_3'UTR|TCF7L2_ENST00000536810.1_Missense_Mutation_p.D524N|TCF7L2_ENST00000538897.1_3'UTR			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	541					blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CCTGAAGCCCGACCCCCTGGC	0.692			T	VTI1A	colorectal																																	ENST00000545257.1				Dom	yes		10	10q25.3	6934	T	transcription factor 7-like 2			E	VTI1A		colorectal	VTI1A/TCF7L2(8)	0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41						c.(1621-1623)Gac>Aac		transcription factor 7-like 2 (T-cell specific, HMG-box)							55.0	62.0	60.0					10																	114925492		2203	4300	6503	SO:0001583	missense	6934				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr10:114925492G>A	X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.1621G>A	10.37:g.114925492G>A	ENSP00000348274:p.Asp541Asn					TCF7L2_ENST00000355717.4_3'UTR|TCF7L2_ENST00000355995.4_Missense_Mutation_p.D541N|TCF7L2_ENST00000369397.4_Missense_Mutation_p.D518N|TCF7L2_ENST00000543371.1_Missense_Mutation_p.D524N|TCF7L2_ENST00000536810.1_Missense_Mutation_p.D524N|TCF7L2_ENST00000538897.1_3'UTR|TCF7L2_ENST00000542695.1_Missense_Mutation_p.D257N|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000369386.1_3'UTR	p.D541N			Q9NQB0	TF7L2_HUMAN		Epithelial(162;0.00554)|all cancers(201;0.02)	15	2128	+		Breast(234;0.058)|Colorectal(252;0.0615)	541					B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Missense_Mutation	SNP	ENST00000355995.4	37	c.1621G>A		.	.	.	.	.	.	.	.	.	.	G	18.25	3.581655	0.65992	.	.	ENSG00000148737	ENST00000355995;ENST00000545257;ENST00000543371;ENST00000536810;ENST00000369397;ENST00000542695	D;D;D;D;D;D	0.98493	-4.91;-4.91;-4.92;-4.96;-4.91;-4.91	5.21	5.21	0.72293	.	0.226096	0.35903	N	0.002916	D	0.98194	0.9403	L	0.36672	1.1	0.43351	D	0.995414	D;D;D;P;P;P;D	0.89917	1.0;0.986;1.0;0.585;0.585;0.813;0.992	D;P;D;B;B;B;P	0.78314	0.981;0.905;0.991;0.113;0.113;0.226;0.491	D	0.99698	1.1003	10	0.52906	T	0.07	-17.111	18.7569	0.91836	0.0:0.0:1.0:0.0	.	541;412;456;501;501;524;518	Q9NQB0;C6ZRK4;C6ZRJ6;C6ZRJ8;C6ZRK5;Q9NQB0-7;Q6FHW4	TF7L2_HUMAN;.;.;.;.;.;.	N	541;541;524;524;518;257	ENSP00000348274:D541N;ENSP00000440547:D541N;ENSP00000444972:D524N;ENSP00000446238:D524N;ENSP00000358404:D518N;ENSP00000443883:D257N	ENSP00000348274:D541N	D	+	1	0	TCF7L2	114915482	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.134000	0.77268	2.417000	0.82017	0.655000	0.94253	GAC		0.692	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756		6	122	0	0	0	1	0	6	122				
CARD6	84674	broad.mit.edu	37	5	40854090	40854090	+	Missense_Mutation	SNP	A	A	G			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr5:40854090A>G	ENST00000254691.5	+	3	2855	c.2656A>G	c.(2656-2658)Ata>Gta	p.I886V	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	886					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TGGAAAACTGATAAGAACATC	0.488																																						ENST00000254691.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						c.(2656-2658)Ata>Gta		caspase recruitment domain family, member 6							102.0	102.0	102.0					5																	40854090		2203	4300	6503	SO:0001583	missense	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40854090A>G	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.2656A>G	5.37:g.40854090A>G	ENSP00000254691:p.Ile886Val					CARD6_ENST00000381677.3_Intron	p.I886V	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN			3	2855	+			886					Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	c.2656A>G	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	A	8.854	0.945191	0.18356	.	.	ENSG00000132357	ENST00000254691	T	0.13538	2.58	4.6	-0.8	0.10897	.	1.316840	0.04909	N	0.452742	T	0.07458	0.0188	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35895	-0.9770	10	0.16420	T	0.52	1.4981	0.7219	0.00942	0.4777:0.1683:0.1914:0.1626	.	886	Q9BX69	CARD6_HUMAN	V	886	ENSP00000254691:I886V	ENSP00000254691:I886V	I	+	1	0	CARD6	40889847	0.000000	0.05858	0.000000	0.03702	0.202000	0.24057	-0.201000	0.09464	-0.198000	0.10333	0.260000	0.18958	ATA		0.488	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			32	85	0	0	0	1	0	32	85				
NXF3	56000	broad.mit.edu	37	X	102337986	102337986	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chrX:102337986G>A	ENST00000395065.3	-	7	738	c.637C>T	c.(637-639)Cag>Tag	p.Q213*	NXF3_ENST00000425463.2_Nonsense_Mutation_p.Q124*|NXF3_ENST00000425644.1_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	213					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						ACATCACACTGTTGGTTCATG	0.512																																						ENST00000395065.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(637-639)Cag>Tag		nuclear RNA export factor 3							200.0	191.0	194.0					X																	102337986		2203	4300	6503	SO:0001587	stop_gained	56000					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:102337986G>A	AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.637C>T	X.37:g.102337986G>A	ENSP00000378504:p.Gln213*					NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Nonsense_Mutation_p.Q124*	p.Q213*	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN			7	738	-			213					B4DYS7|Q5H9I1|Q9H1A9	Nonsense_Mutation	SNP	ENST00000395065.3	37	c.637C>T	CCDS14503.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.1|20.1	3.937525|3.937525	0.73557|0.73557	.|.	.|.	ENSG00000147206|ENSG00000147206	ENST00000395065;ENST00000425463|ENST00000427570	.|.	.|.	.|.	3.64|3.64	-3.0|-3.0	0.05480|0.05480	.|.	2.979100|.	0.02853|.	N|.	0.129352|.	.|T	.|0.17152	.|0.0412	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.22906	.|-1.0203	.|3	0.59425|.	D|.	0.04|.	25.6519|25.6519	0.1422|0.1422	0.00084|0.00084	0.3159:0.1489:0.2298:0.3054|0.3159:0.1489:0.2298:0.3054	.|.	.|.	.|.	.|.	X|I	213;124|89	.|.	ENSP00000378504:Q213X|.	Q|T	-|-	1|2	0|0	NXF3|NXF3	102224642|102224642	0.430000|0.430000	0.25538|0.25538	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.577000|0.577000	0.23758|0.23758	-0.975000|-0.975000	0.03546|0.03546	-0.881000|-0.881000	0.02953|0.02953	CAG|ACA		0.512	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057684.1	NM_022052		71	71	0	0	0	1	0	71	71				
ACTRT1	139741	broad.mit.edu	37	X	127185963	127185963	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chrX:127185963C>A	ENST00000371124.3	-	1	419	c.223G>T	c.(223-225)Gag>Tag	p.E75*		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	75						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						AGTCCACGCTCAATGGGGTAG	0.463																																						ENST00000371124.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						c.(223-225)Gag>Tag		actin-related protein T1							165.0	153.0	157.0					X																	127185963		2203	4300	6503	SO:0001587	stop_gained	139741					cytoplasm|cytoskeleton		g.chrX:127185963C>A	AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.223G>T	X.37:g.127185963C>A	ENSP00000360165:p.Glu75*						p.E75*	NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN			1	419	-			75					Q6X7C1|Q96L10	Nonsense_Mutation	SNP	ENST00000371124.3	37	c.223G>T	CCDS14611.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.000441	0.54147	.	.	ENSG00000123165	ENST00000371124	.	.	.	3.76	1.98	0.26296	.	0.090484	0.45867	D	0.000339	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.4851	0.22085	0.0:0.7073:0.1816:0.111	.	.	.	.	X	75	.	ENSP00000360165:E75X	E	-	1	0	ACTRT1	127013644	1.000000	0.71417	0.003000	0.11579	0.022000	0.10575	3.404000	0.52623	0.406000	0.25560	-1.268000	0.01426	GAG		0.463	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		4	115	1	0	0.150653	1	0.150653	4	115				
OR10G4	390264	broad.mit.edu	37	11	123886915	123886915	+	Silent	SNP	C	C	T			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr11:123886915C>T	ENST00000320891.4	+	1	634	c.634C>T	c.(634-636)Ctg>Ttg	p.L212L		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CTGCTTTGTCCTGATAGTGCT	0.562																																						ENST00000320891.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48						c.(634-636)Ctg>Ttg		olfactory receptor, family 10, subfamily G, member 4							268.0	221.0	237.0					11																	123886915		2201	4299	6500	SO:0001819	synonymous_variant	390264				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123886915C>T	AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.634C>T	11.37:g.123886915C>T							p.L212L	NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	634	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	212					Q6IEW0	Silent	SNP	ENST00000320891.4	37	c.634C>T	CCDS31702.1																																																																																				0.562	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		24	95	0	0	0	1	0	24	95				
PPM1G	5496	broad.mit.edu	37	2	27608655	27608655	+	Missense_Mutation	SNP	T	T	C			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr2:27608655T>C	ENST00000344034.4	-	4	632	c.368A>G	c.(367-369)gAg>gGg	p.E123G	PPM1G_ENST00000350803.4_Missense_Mutation_p.E123G	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	123					cell cycle arrest (GO:0007050)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					ATCTTCATCCTCAGTGGGTCG	0.403																																						ENST00000344034.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19						c.(367-369)gAg>gGg		protein phosphatase, Mg2+/Mn2+ dependent, 1G							142.0	136.0	138.0					2																	27608655		2203	4300	6503	SO:0001583	missense	5496				cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr2:27608655T>C	Y13936	CCDS1752.1	2p23.3	2012-04-17	2010-03-05		ENSG00000115241	ENSG00000115241	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9278	protein-coding gene	gene with protein product	"""PP2C, gamma"", ""protein phosphatase 2C, gamma isoform"""	605119	"""protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform"""			9276438	Standard	NM_177983		Approved	PP2CG, PP2Cgamma	uc002rkl.4	O15355	OTTHUMG00000097788	ENST00000344034.4:c.368A>G	2.37:g.27608655T>C	ENSP00000342778:p.Glu123Gly					PPM1G_ENST00000350803.4_Missense_Mutation_p.E123G	p.E123G	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN			4	632	-	Acute lymphoblastic leukemia(172;0.155)		123						Missense_Mutation	SNP	ENST00000344034.4	37	c.368A>G	CCDS1752.1	.	.	.	.	.	.	.	.	.	.	T	18.17	3.564430	0.65651	.	.	ENSG00000115241	ENST00000344034;ENST00000350803;ENST00000544412	T;T	0.49139	0.79;0.79	5.75	5.75	0.90469	Protein phosphatase 2C-like (4);	0.416351	0.26414	N	0.024505	T	0.40979	0.1139	L	0.36672	1.1	0.58432	D	0.999997	P	0.40970	0.734	B	0.40329	0.326	T	0.19418	-1.0306	10	0.26408	T	0.33	-15.4747	14.8904	0.70604	0.0:0.0:0.0:1.0	.	123	O15355	PPM1G_HUMAN	G	123;123;106	ENSP00000342778:E123G;ENSP00000264714:E123G	ENSP00000342778:E123G	E	-	2	0	PPM1G	27462159	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.698000	0.84413	2.201000	0.70794	0.533000	0.62120	GAG		0.403	PPM1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215032.1	NM_002707		3	48	0	0	0	1	0	3	48				
PRB4	5545	broad.mit.edu	37	12	11461248	11461248	+	Silent	SNP	C	C	T			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr12:11461248C>T	ENST00000535904.1	-	3	702	c.669G>A	c.(667-669)aaG>aaA	p.K223K	PRB4_ENST00000279575.1_Silent_p.K223K|PRB4_ENST00000445719.2_Silent_p.K154K			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	0	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GCCCCTGGGGCTTTCCAGCAG	0.622										HNSCC(22;0.051)																												ENST00000279575.1																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						c.(667-669)aaG>aaA		proline-rich protein BstNI subfamily 4							93.0	104.0	100.0					12																	11461248		2203	4300	6503	SO:0001819	synonymous_variant	5545					extracellular region		g.chr12:11461248C>T		CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.669G>A	12.37:g.11461248C>T		HNSCC(22;0.051)				PRB4_ENST00000445719.2_Silent_p.K154K|PRB4_ENST00000535904.1_Silent_p.K223K	p.K223K	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN			3	702	-			286			9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		A1L439|O00600|P02813|P10161|P10162|P81489	Silent	SNP	ENST00000535904.1	37	c.669G>A	CCDS8641.1																																																																																				0.622	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402308.1	NM_002723		43	132	0	0	0	1	0	43	132				
ACTRT1	139741	broad.mit.edu	37	X	127185962	127185962	+	Missense_Mutation	SNP	T	T	G			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chrX:127185962T>G	ENST00000371124.3	-	1	420	c.224A>C	c.(223-225)gAg>gCg	p.E75A		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	75						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CAGTCCACGCTCAATGGGGTA	0.468																																						ENST00000371124.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						c.(223-225)gAg>gCg		actin-related protein T1							166.0	154.0	158.0					X																	127185962		2203	4300	6503	SO:0001583	missense	139741					cytoplasm|cytoskeleton		g.chrX:127185962T>G	AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.224A>C	X.37:g.127185962T>G	ENSP00000360165:p.Glu75Ala						p.E75A	NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN			1	420	-			75					Q6X7C1|Q96L10	Missense_Mutation	SNP	ENST00000371124.3	37	c.224A>C	CCDS14611.1	.	.	.	.	.	.	.	.	.	.	T	8.026	0.760783	0.15914	.	.	ENSG00000123165	ENST00000371124	D	0.97752	-4.52	3.76	2.57	0.30868	.	0.090484	0.45867	D	0.000339	D	0.97458	0.9168	M	0.86097	2.795	0.34549	D	0.711063	P	0.41366	0.747	P	0.48334	0.574	D	0.98470	1.0600	10	0.87932	D	0	.	7.2364	0.26072	0.2:0.0:0.0:0.7999	.	75	Q8TDG2	ACTT1_HUMAN	A	75	ENSP00000360165:E75A	ENSP00000360165:E75A	E	-	2	0	ACTRT1	127013643	1.000000	0.71417	0.002000	0.10522	0.031000	0.12232	5.462000	0.66707	0.607000	0.29982	0.441000	0.28932	GAG		0.468	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		5	121	0	0	0	1	0	5	121				
PLEC	5339	broad.mit.edu	37	8	144995923	144995923	+	Missense_Mutation	SNP	C	C	T			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr8:144995923C>T	ENST00000322810.4	-	32	8646	c.8477G>A	c.(8476-8478)cGc>cAc	p.R2826H	PLEC_ENST00000345136.3_Missense_Mutation_p.R2689H|PLEC_ENST00000357649.2_Missense_Mutation_p.R2693H|PLEC_ENST00000354589.3_Missense_Mutation_p.R2689H|PLEC_ENST00000398774.2_Missense_Mutation_p.R2657H|PLEC_ENST00000356346.3_Missense_Mutation_p.R2675H|PLEC_ENST00000436759.2_Missense_Mutation_p.R2716H|PLEC_ENST00000527096.1_Missense_Mutation_p.R2712H|PLEC_ENST00000354958.2_Missense_Mutation_p.R2667H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2826	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CAGGTAGTGGCGCACGTCTTC	0.662																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(8476-8478)cGc>cAc		plectin							35.0	39.0	38.0					8																	144995923		2172	4264	6436	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144995923C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8477G>A	8.37:g.144995923C>T	ENSP00000323856:p.Arg2826His					PLEC_ENST00000356346.3_Missense_Mutation_p.R2675H|PLEC_ENST00000354589.3_Missense_Mutation_p.R2689H|PLEC_ENST00000527096.1_Missense_Mutation_p.R2712H|PLEC_ENST00000357649.2_Missense_Mutation_p.R2693H|PLEC_ENST00000398774.2_Missense_Mutation_p.R2657H|PLEC_ENST00000436759.2_Missense_Mutation_p.R2716H|PLEC_ENST00000354958.2_Missense_Mutation_p.R2667H|PLEC_ENST00000345136.3_Missense_Mutation_p.R2689H	p.R2826H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	8646	-			2826			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.8477G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	1.129	-0.652984	0.03480	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38	4.3	-1.94	0.07571	.	0.927560	0.08931	N	0.873010	T	0.47414	0.1444	L	0.27053	0.805	0.09310	N	1	B;B;B;B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.001;0.001;0.001;0.001	B;B;B;B;B;B;B;B	0.06405	0.001;0.001;0.001;0.002;0.001;0.001;0.001;0.001	T	0.32402	-0.9908	10	0.08837	T	0.75	.	10.6962	0.45901	0.0:0.4712:0.0:0.5288	.	2716;2675;2667;2826;2657;2689;2693;2689	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	H	2689;2693;2689;2657;2826;2667;2675;2716;2712	ENSP00000344848:R2689H;ENSP00000350277:R2693H;ENSP00000346602:R2689H;ENSP00000381756:R2657H;ENSP00000323856:R2826H;ENSP00000347044:R2667H;ENSP00000348702:R2675H;ENSP00000388180:R2716H;ENSP00000434583:R2712H	ENSP00000323856:R2826H	R	-	2	0	PLEC	145067911	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.641000	0.05434	-0.554000	0.06150	-0.404000	0.06349	CGC		0.662	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		12	65	0	0	0	1	0	12	65				
PROX1	5629	broad.mit.edu	37	1	214171320	214171320	+	Missense_Mutation	SNP	G	G	A			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr1:214171320G>A	ENST00000366958.4	+	2	2050	c.1442G>A	c.(1441-1443)cGc>cAc	p.R481H	PROX1_ENST00000498508.2_Missense_Mutation_p.R481H|PROX1_ENST00000435016.1_Missense_Mutation_p.R481H|PROX1_ENST00000261454.4_Missense_Mutation_p.R481H	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	481					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TCCACCTTCCGCCACCCCTTC	0.637																																						ENST00000366958.4																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47						c.(1441-1443)cGc>cAc		prospero homeobox 1							79.0	91.0	87.0					1																	214171320		2203	4300	6503	SO:0001583	missense	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214171320G>A	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1442G>A	1.37:g.214171320G>A	ENSP00000355925:p.Arg481His					PROX1_ENST00000435016.1_Missense_Mutation_p.R481H|PROX1_ENST00000261454.4_Missense_Mutation_p.R481H|PROX1_ENST00000498508.2_Missense_Mutation_p.R481H	p.R481H	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	2050	+			481					A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	c.1442G>A	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.523260	0.64747	.	.	ENSG00000117707	ENST00000541470;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.48836	0.81;0.8;0.81;0.81	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.68449	0.3002	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.63594	-0.6602	10	0.33940	T	0.23	-3.8807	19.8546	0.96752	0.0:0.0:1.0:0.0	.	481	Q92786	PROX1_HUMAN	H	53;481;481;481;481	ENSP00000420283:R481H;ENSP00000355925:R481H;ENSP00000400694:R481H;ENSP00000261454:R481H	ENSP00000261454:R481H	R	+	2	0	PROX1	212237943	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.863000	0.99569	2.697000	0.92050	0.655000	0.94253	CGC		0.637	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		23	129	0	0	0	1	0	23	129				
RYR3	6263	broad.mit.edu	37	15	34015067	34015067	+	Silent	SNP	C	C	T			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr15:34015067C>T	ENST00000389232.4	+	44	6841	c.6771C>T	c.(6769-6771)gaC>gaT	p.D2257D	RYR3_ENST00000415757.3_Silent_p.D2257D|Y_RNA_ENST00000363138.1_RNA	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2257	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAGCGCTCGACCTCCCCTCTC	0.557																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(6769-6771)gaC>gaT		ryanodine receptor 3							82.0	85.0	84.0					15																	34015067		1927	4118	6045	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34015067C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.6771C>T	15.37:g.34015067C>T						RYR3_ENST00000415757.3_Silent_p.D2257D	p.D2257D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	44	6841	+		all_lung(180;7.18e-09)	2257			4 X approximate repeats.		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.6771C>T	CCDS45210.1																																																																																				0.557	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			38	88	0	0	0	1	0	38	88				
RFX1	5989	broad.mit.edu	37	19	14083867	14083867	+	Silent	SNP	G	G	A			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr19:14083867G>A	ENST00000254325.4	-	9	1236	c.1002C>T	c.(1000-1002)gcC>gcT	p.A334A		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	334					immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CCGTGCCTGCGGCCTCGTAGT	0.667																																						ENST00000254325.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1000-1002)gcC>gcT		regulatory factor X, 1 (influences HLA class II expression)							27.0	24.0	25.0					19																	14083867		2190	4281	6471	SO:0001819	synonymous_variant	5989				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:14083867G>A		CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 1"", ""enhancer factor C"", ""MHC class II regulatory factor RFX"""	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.1002C>T	19.37:g.14083867G>A							p.A334A	NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)		9	1236	-			334						Silent	SNP	ENST00000254325.4	37	c.1002C>T	CCDS12301.1																																																																																				0.667	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	NM_002918		12	37	0	0	0	1	0	12	37				
TUBB8P7	197331	broad.mit.edu	37	16	90162338	90162338	+	RNA	SNP	T	T	C			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr16:90162338T>C	ENST00000564451.1	+	0	1691				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		GACATCCCACTCCGGGGGCTA	0.483																																						ENST00000567960.1																			0																																																			0							g.chr16:90162338T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162338T>C						TUBB8P7_ENST00000564451.1_RNA								0	1074	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.483	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		5	124	0	0	0	1	0	5	124				
TNXB	7148	broad.mit.edu	37	6	32036898	32036898	+	Missense_Mutation	SNP	G	G	A			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr6:32036898G>A	ENST00000375244.3	-	16	5804	c.5603C>T	c.(5602-5604)aCg>aTg	p.T1868M	TNXB_ENST00000375247.2_Missense_Mutation_p.T1868M			P22105	TENX_HUMAN	tenascin XB	1950	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTCAGTTTCCGTTTCTTCCCT	0.632																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(5602-5604)aCg>aTg		tenascin XB							23.0	26.0	25.0					6																	32036898		1336	2574	3910	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32036898G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.5603C>T	6.37:g.32036898G>A	ENSP00000364393:p.Thr1868Met					TNXB_ENST00000375247.2_Missense_Mutation_p.T1868M	p.T1868M			P22105	TENX_HUMAN			16	5804	-			1950			Fibronectin type-III 11.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.5603C>T		.	.	.	.	.	.	.	.	.	.	G	4.880	0.163611	0.09287	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.58210	0.52;0.35	4.41	-8.82	0.00810	.	2.614030	0.01742	N	0.029470	T	0.11750	0.0286	N	0.16266	0.395	0.09310	N	1	B	0.15141	0.012	B	0.08055	0.003	T	0.05084	-1.0907	10	0.38643	T	0.18	.	6.1199	0.20148	0.266:0.0:0.4147:0.3193	.	1868	P22105-3	.	M	1868	ENSP00000364393:T1868M;ENSP00000364396:T1868M	ENSP00000364393:T1868M	T	-	2	0	TNXB	32144876	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.312000	0.02720	-2.073000	0.00878	-1.405000	0.01134	ACG		0.632	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		7	23	0	0	0	1	0	7	23				
GOLGA2	2801	broad.mit.edu	37	9	131019398	131019398	+	Missense_Mutation	SNP	G	G	A			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr9:131019398G>A	ENST00000421699.2	-	26	2969	c.2957C>T	c.(2956-2958)cCt>cTt	p.P986L	AL590708.1_ENST00000408370.1_RNA|GOLGA2_ENST00000609374.1_Missense_Mutation_p.P974L	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	986					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						GTAAAAAAAAGGAATGCAGGG	0.557																																						ENST00000421699.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(2956-2958)cCt>cTt		golgin A2							90.0	100.0	96.0					9																	131019398		2203	4300	6503	SO:0001583	missense	2801					Golgi cisterna membrane	protein binding	g.chr9:131019398G>A	L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.2957C>T	9.37:g.131019398G>A	ENSP00000416097:p.Pro986Leu						p.P986L	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN			26	2969	-			986					Q6GRM9|Q9BRB0|Q9NYF9	Missense_Mutation	SNP	ENST00000421699.2	37	c.2957C>T	CCDS6896.2	.	.	.	.	.	.	.	.	.	.	g	17.69	3.451446	0.63290	.	.	ENSG00000167110	ENST00000421699;ENST00000342583	T	0.46063	0.88	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.67720	0.2923	M	0.80028	2.48	0.80722	D	1	D;D	0.76494	0.999;0.972	D;P	0.77557	0.99;0.881	T	0.71862	-0.4464	10	0.56958	D	0.05	.	18.4669	0.90758	0.0:0.0:1.0:0.0	.	986;604	Q08379;Q08379-2	GOGA2_HUMAN;.	L	986;270	ENSP00000416097:P986L	ENSP00000342692:P270L	P	-	2	0	GOLGA2	130059219	1.000000	0.71417	0.622000	0.29159	0.002000	0.02628	9.476000	0.97823	2.340000	0.79590	0.557000	0.71058	CCT		0.557	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486		4	170	0	0	0	1	0	4	170				
CUX1	1523	broad.mit.edu	37	7	101916637	101916637	+	Splice_Site	SNP	G	G	T			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr7:101916637G>T	ENST00000437600.4	+	15	1602	c.1250G>T	c.(1249-1251)gGa>gTa	p.G417V	CUX1_ENST00000393824.3_Splice_Site_p.G380V|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000547394.2_Splice_Site_p.G403V|CUX1_ENST00000425244.2_Splice_Site_p.G373V|CUX1_ENST00000292538.4_Splice_Site_p.G419V	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	408					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TTGGCCACAGGACGCTGTGCA	0.627																																						ENST00000437600.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.e15-1		cut-like homeobox 1							40.0	35.0	37.0					7																	101916637		2203	4300	6503	SO:0001630	splice_region_variant	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101916637G>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000437600.4:c.1250-1G>T	7.37:g.101916637G>T						CUX1_ENST00000292538.4_Splice_Site_p.G419_splice|CUX1_ENST00000425244.2_Splice_Site_p.G373_splice|CUX1_ENST00000393824.3_Splice_Site_p.G380_splice|CUX1_ENST00000547394.2_Splice_Site_p.G403_splice|CUX1_ENST00000560541.1_3'UTR	p.G417_splice	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN			15	1602	+			408					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Splice_Site	SNP	ENST00000437600.4	37	c.1249_splice	CCDS47672.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.340873	0.41498	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000425244;ENST00000437600	T;T;T;T	0.32023	1.49;1.48;1.47;1.49	4.58	4.58	0.56647	.	.	.	.	.	T	0.25975	0.0633	L	0.43152	1.355	0.80722	D	1	B;B;B;B;B	0.20671	0.047;0.041;0.002;0.003;0.01	B;B;B;B;B	0.22880	0.042;0.024;0.009;0.009;0.009	T	0.04737	-1.0930	8	.	.	.	.	11.7772	0.51993	0.0:0.0:0.812:0.188	.	380;373;403;417;419	B4DZZ2;B3KV79;G3V1Z6;Q13948-2;Q13948	.;.;.;.;CASP_HUMAN	V	419;403;373;417	ENSP00000292538:G419V;ENSP00000449371:G403V;ENSP00000409745:G373V;ENSP00000414091:G417V	.	G	+	2	0	CUX1	101703357	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	4.993000	0.63895	2.106000	0.64143	0.561000	0.74099	GGA		0.627	CUX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347534.3	NM_001913	Missense_Mutation	3	12	1	0	0.004672	1	0.00495515	3	12				
FAR2P1	440905	broad.mit.edu	37	2	130786055	130786055	+	RNA	SNP	A	A	T	rs1139712		TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr2:130786055A>T	ENST00000325390.3	-	0	2812					NR_026758.1																						AGACCTGGAAACCTGGGGGAA	0.428																																						ENST00000325390.3																			0																																																			0							g.chr2:130786055A>T																													2.37:g.130786055A>T								NR_026758.1						0	2812	-									RNA	SNP	ENST00000325390.3	37																																																																																						0.428	AC018865.8-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000331630.3			4	4	0	0	0	1	0	4	4				
LOC645752	645752	broad.mit.edu	37	15	78211648	78211648	+	lincRNA	SNP	A	A	G	rs577974396	byFrequency	TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr15:78211648A>G	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							CGCCAGGGATAGGGGCTCAGC	0.522																																						ENST00000565869.1																			0																																																			0							g.chr15:78211648A>G																													15.37:g.78211648A>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.522	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			3	63	0	0	0	1	0	3	63				
PCDHB18	54660	broad.mit.edu	37	5	140616414	140616414	+	RNA	SNP	A	A	G			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr5:140616414A>G	ENST00000526308.1	+	0	2477					NR_001281.1		Q96TA0	PCDBI_HUMAN	protocadherin beta 18 pseudogene						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GGGGCAAATGAGTTCAAGTTC	0.562																																						ENST00000526308.1																			0				endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18																																														0							g.chr5:140616414A>G	AF152528		5q31.3	2014-03-20			ENSG00000146001	ENSG00000146001		"""Cadherins / Protocadherins : Clustered"""	14548	pseudogene	pseudogene						10380929	Standard	NR_001281		Approved	PCDH-psi2	uc003ljc.1	Q96TA0	OTTHUMG00000167484		5.37:g.140616414A>G								NR_001281.1						0	2477	+								B3KTF8	RNA	SNP	ENST00000526308.1	37																																																																																						0.562	PCDHB18-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000394776.1			20	94	0	0	0	1	0	20	94				
FAR2P1	440905	broad.mit.edu	37	2	130786063	130786063	+	RNA	SNP	G	G	A			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr2:130786063G>A	ENST00000325390.3	-	0	2811					NR_026758.1																						AAACCTGGGGGAAAAAAGAGA	0.423																																						ENST00000325390.3																			0																																																			0							g.chr2:130786063G>A																													2.37:g.130786063G>A								NR_026758.1						0	2811	-									RNA	SNP	ENST00000325390.3	37																																																																																						0.423	AC018865.8-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000331630.3			4	5	0	0	0	1	0	4	5				
FAF1	11124	broad.mit.edu	37	1	51049325	51049325	+	Splice_Site	SNP	T	T	C			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr1:51049325T>C	ENST00000396153.2	-	11	1481	c.1030A>G	c.(1030-1032)Aga>Gga	p.R344G	RNU6-1026P_ENST00000384465.1_RNA|FAF1_ENST00000545823.1_Splice_Site_p.R102G|FAF1_ENST00000472808.1_5'UTR|FAF1_ENST00000371778.4_Splice_Site_p.R344G	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	344					apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		TAACCCTACCTTGAAGAAAAC	0.289																																						ENST00000396153.2																			1	Whole gene deletion(1)	p.0?(1)	thyroid(1)	breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24						c.e11+1		Fas (TNFRSF6) associated factor 1							131.0	134.0	133.0					1																	51049325		2202	4300	6502	SO:0001630	splice_region_variant	11124				apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	g.chr1:51049325T>C	AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"""UBX domain containing"""	3578	protein-coding gene	gene with protein product	"""TNFRSF6-associated factor 1"", ""UBX domain protein 3A"""	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.1031+1A>G	1.37:g.51049325T>C						FAF1_ENST00000472808.1_5'UTR|FAF1_ENST00000545823.1_Splice_Site_p.R102_splice|FAF1_ENST00000371778.4_Splice_Site_p.R344_splice	p.R344_splice	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN		GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)	11	1481	-			344					Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Splice_Site	SNP	ENST00000396153.2	37	c.1031_splice	CCDS554.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.520812	0.85495	.	.	ENSG00000185104	ENST00000396153;ENST00000371778;ENST00000545823;ENST00000371780	T;T;T	0.41758	0.99;0.99;0.99	5.62	5.62	0.85841	UAS (1);	0.000000	0.85682	D	0.000000	T	0.66137	0.2759	M	0.78916	2.43	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.80764	0.992;0.994	T	0.70612	-0.4824	10	0.72032	D	0.01	-20.3989	15.8195	0.78628	0.0:0.0:0.0:1.0	.	102;344	B4DEJ6;Q9UNN5	.;FAF1_HUMAN	G	344;344;102;184	ENSP00000379457:R344G;ENSP00000360843:R344G;ENSP00000438870:R102G	ENSP00000360843:R344G	R	-	1	2	FAF1	50821913	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.476000	0.66793	2.132000	0.65825	0.528000	0.53228	AGA		0.289	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021807.1	NM_007051	Missense_Mutation	10	31	0	0	0	1	0	10	31				
NPLOC4	55666	broad.mit.edu	37	17	79577247	79577247	+	Missense_Mutation	SNP	C	C	T			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr17:79577247C>T	ENST00000331134.6	-	5	639	c.424G>A	c.(424-426)Gtc>Atc	p.V142I	NPLOC4_ENST00000539314.1_Intron|NPLOC4_ENST00000574344.1_5'UTR|NPLOC4_ENST00000374747.5_Missense_Mutation_p.V142I	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	142					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)	endoplasmic reticulum (GO:0005783)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TCTAGAGGGACGCAGTGCACG	0.587																																						ENST00000374747.5																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11						c.(424-426)Gtc>Atc		nuclear protein localization 4 homolog (S. cerevisiae)							36.0	39.0	38.0					17																	79577247		2057	4189	6246	SO:0001583	missense	55666				cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding	g.chr17:79577247C>T	AB040932	CCDS45812.1	17q25.3	2012-09-20			ENSG00000182446	ENSG00000182446			18261	protein-coding gene	gene with protein product		606590				11574150, 10811609	Standard	NM_017921		Approved	NPL4, FLJ20657, KIAA1499	uc002kas.3	Q8TAT6	OTTHUMG00000177990	ENST00000331134.6:c.424G>A	17.37:g.79577247C>T	ENSP00000331487:p.Val142Ile					NPLOC4_ENST00000539314.1_Intron|NPLOC4_ENST00000574344.1_5'UTR|NPLOC4_ENST00000331134.6_Missense_Mutation_p.V142I	p.V142I			Q8TAT6	NPL4_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		5	553	-	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		142					Q8N3J1|Q9H8V2|Q9H964|Q9NWR5|Q9P229	Missense_Mutation	SNP	ENST00000331134.6	37	c.424G>A	CCDS45812.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.791497	0.50102	.	.	ENSG00000182446	ENST00000331134;ENST00000374747	.	.	.	5.28	5.28	0.74379	NPL4, zinc-binding putative (1);	0.000000	0.85682	D	0.000000	T	0.47857	0.1468	L	0.38531	1.155	0.80722	D	1	P;B	0.37141	0.584;0.279	B;B	0.34452	0.176;0.183	T	0.40213	-0.9575	9	0.16896	T	0.51	-16.8462	18.9311	0.92566	0.0:1.0:0.0:0.0	.	142;142	Q8TAT6-2;Q8TAT6	.;NPL4_HUMAN	I	142;141	.	ENSP00000331487:V142I	V	-	1	0	NPLOC4	77187689	1.000000	0.71417	0.923000	0.36655	0.351000	0.29236	7.398000	0.79919	2.637000	0.89404	0.650000	0.86243	GTC		0.587	NPLOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440140.1			3	4	0	0	0	1	0	3	4				
MTUS1	57509	broad.mit.edu	37	8	17612416	17612416	+	Missense_Mutation	SNP	C	C	G	rs578011378		TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr8:17612416C>G	ENST00000262102.6	-	2	1125	c.901G>C	c.(901-903)Gtc>Ctc	p.V301L	MTUS1_ENST00000381862.3_Missense_Mutation_p.V301L|MTUS1_ENST00000519263.1_Missense_Mutation_p.V301L|MTUS1_ENST00000381869.3_Missense_Mutation_p.V301L	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	301					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TCATTGGGGACTTCCATGCCA	0.433																																						ENST00000381869.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36						c.(901-903)Gtc>Ctc		microtubule associated tumor suppressor 1							233.0	225.0	227.0					8																	17612416		1953	4141	6094	SO:0001583	missense	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17612416C>G	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.901G>C	8.37:g.17612416C>G	ENSP00000262102:p.Val301Leu					MTUS1_ENST00000381862.3_Missense_Mutation_p.V301L|MTUS1_ENST00000262102.6_Missense_Mutation_p.V301L|MTUS1_ENST00000519263.1_Missense_Mutation_p.V301L	p.V301L	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	2	1374	-			301					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	c.901G>C	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.684989	0.29872	.	.	ENSG00000129422	ENST00000381869;ENST00000262102;ENST00000519263;ENST00000381862	T;T;T;T	0.28069	2.54;2.59;2.54;1.63	4.52	3.65	0.41850	.	0.102038	0.40222	N	0.001146	T	0.19725	0.0474	L	0.32530	0.975	0.09310	N	1	D;P;P	0.55800	0.973;0.802;0.802	B;B;B	0.41571	0.36;0.273;0.273	T	0.21895	-1.0232	10	0.87932	D	0	-2.481	4.1304	0.10146	0.1862:0.6271:0.0:0.1867	.	301;301;301	Q9ULD2-5;Q9ULD2-2;Q9ULD2	.;.;MTUS1_HUMAN	L	301	ENSP00000371293:V301L;ENSP00000262102:V301L;ENSP00000430167:V301L;ENSP00000371286:V301L	ENSP00000262102:V301L	V	-	1	0	MTUS1	17656696	0.003000	0.15002	0.893000	0.35052	0.234000	0.25298	1.284000	0.33249	1.516000	0.48900	0.655000	0.94253	GTC		0.433	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		4	144	0	0	0	1	0	4	144				
TTC21A	199223	broad.mit.edu	37	3	39180260	39180260	+	Missense_Mutation	SNP	G	G	A			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr3:39180260G>A	ENST00000431162.2	+	29	4078	c.3944G>A	c.(3943-3945)cGa>cAa	p.R1315Q	TTC21A_ENST00000301819.6_Missense_Mutation_p.R1316Q|TTC21A_ENST00000440121.1_Missense_Mutation_p.R1267Q|TTC21A_ENST00000493856.1_3'UTR			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1315										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GAAAAGGCCCGAAGGTCCCTG	0.552																																						ENST00000301819.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50						c.(3946-3948)cGa>cAa		tetratricopeptide repeat domain 21A							55.0	53.0	54.0					3																	39180260		1865	4096	5961	SO:0001583	missense	199223						binding	g.chr3:39180260G>A	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.3944G>A	3.37:g.39180260G>A	ENSP00000398211:p.Arg1315Gln					TTC21A_ENST00000431162.2_Missense_Mutation_p.R1315Q|TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000440121.1_Missense_Mutation_p.R1267Q	p.R1316Q	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	29	4124	+			1315		R -> K (in dbSNP:rs704959).			A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	c.3947G>A	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.324450	0.41197	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.63255	-0.03;-0.03;0.08	5.28	1.58	0.23477	.	0.263064	0.31772	N	0.007086	T	0.35740	0.0942	N	0.11284	0.12	0.25370	N	0.988709	B;B;B	0.29936	0.262;0.01;0.006	B;B;B	0.22753	0.041;0.005;0.002	T	0.15292	-1.0442	10	0.33940	T	0.23	1.0E-4	8.3499	0.32297	0.7556:0.0:0.2444:0.0	.	1267;1316;1315	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	Q	1316;1298;1315;1267	ENSP00000301819:R1316Q;ENSP00000398211:R1315Q;ENSP00000410882:R1267Q	ENSP00000301819:R1316Q	R	+	2	0	TTC21A	39155264	0.986000	0.35501	0.990000	0.47175	0.919000	0.55068	1.565000	0.36386	0.031000	0.15407	-0.367000	0.07326	CGA		0.552	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		9	44	0	0	0	1	0	9	44				
ARID1A	8289	broad.mit.edu	37	1	27023620	27023621	+	In_Frame_Ins	INS	-	-	GCG			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr1:27023620_27023621insGCG	ENST00000324856.7	+	1	1097_1098	c.726_727insGCG	c.(727-729)gcg>GCGgcg	p.243_243A>AA	ARID1A_ENST00000457599.2_In_Frame_Ins_p.243_243A>AA|RP5-968P14.2_ENST00000569378.1_RNA	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	243					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CGGGCTCCGGCGCGGCGGCGGC	0.738			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(724-729)ggcggc>ggGCGcggc		AT rich interactive domain 1A (SWI-like)																																				SO:0001652	inframe_insertion	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27023620_27023621insGCG	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.733_735dupGCG	1.37:g.27023627_27023629dupGCG	ENSP00000320485:p.Ala247dup					ARID1A_ENST00000457599.2_In_Frame_Ins_p.242_243GG>GRG	p.242_243GG>GRG	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	1	1097_1098	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	242					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	In_Frame_Ins	INS	ENST00000324856.7	37	c.726_727insGCG	CCDS285.1																																																																																				0.738	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		4	4						4	4	---	---	---	---
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937|rs74800608|rs375843790|rs74185804|rs202010288	byFrequency	TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q92777	SYN2_HUMAN	synapsin II						neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764														5004	0.999201	0.9992	1.0	5008	,	,		2724	1.0		0.999	False		,,,				2504	0.998					ENST00000432424.2																			0				breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18								synapsin II																																						6854				neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity	g.chr3:12046124_12046126delAGC		CCDS74900.1, CCDS74901.1	3p25.2	2013-09-20			ENSG00000157152	ENSG00000157152			11495	protein-coding gene	gene with protein product		600755				8530057	Standard	XM_006713311		Approved	SYNII, SYNIIa, SYNIIb	uc003bwm.3	Q92777	OTTHUMG00000155335		3.37:g.12046124_12046126delAGC										Q86VA8	Q86VA8_HUMAN			0	245_247	+								A8MY98	RNA	DEL	ENST00000432424.2	37																																																																																						0.764	SYN2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000339528.3	NM_133625		3	4						3	4	---	---	---	---
ATE1	11101	broad.mit.edu	37	10	123659394	123659395	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr10:123659394_123659395insGC	ENST00000224652.6	-	7	1013_1014	c.928_929insGC	c.(928-930)ccafs	p.P310fs	ATE1_ENST00000543447.1_Frame_Shift_Ins_p.P195fs|ATE1_ENST00000369043.3_Intron|ATE1_ENST00000540606.1_Intron|ATE1_ENST00000481784.1_Intron|ATE1_ENST00000369040.3_Intron|ATE1_ENST00000535655.1_Frame_Shift_Ins_p.P11fs	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1	310					protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				GCTTTCGGTTGGCGTATCAGGT	0.431																																						ENST00000535655.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(31-33)aacfs		arginyltransferase 1																																				SO:0001589	frameshift_variant	11101				protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity	g.chr10:123659394_123659395insGC	AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	2.3.2.8		782	protein-coding gene	gene with protein product		607103				16002466, 16943202	Standard	XM_005269458		Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000224652.6:c.927_928dupGC	10.37:g.123659395_123659396dupGC	ENSP00000224652:p.Pro310fs					ATE1_ENST00000540606.1_Intron|ATE1_ENST00000224652.6_Frame_Shift_Ins_p.N310fs|ATE1_ENST00000543447.1_Frame_Shift_Ins_p.N195fs|ATE1_ENST00000369043.3_Intron|ATE1_ENST00000481784.1_Intron|ATE1_ENST00000369040.3_Intron	p.N11fs			O95260	ATE1_HUMAN			5	983_984	-		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)	310	AGGSPSV -> GGGFAAS (in Ref. 4; AAD12366).				O95261|Q5SQQ3|Q8WW04	Frame_Shift_Ins	INS	ENST00000224652.6	37	c.31_32insGC	CCDS31300.1																																																																																				0.431	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001001976		15	71						15	71	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26564280	26564280	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr12:26564280delA	ENST00000381340.3	-	52	7788	c.7372delT	c.(7372-7374)tcafs	p.S2458fs	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2458					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	ATTGTGGGTGAACAGTTCTCC	0.353																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(7372-7374)cafs		inositol 1,4,5-trisphosphate receptor, type 2							129.0	120.0	123.0					12																	26564280		1878	4110	5988	SO:0001589	frameshift_variant	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26564280delA	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.7372delT	12.37:g.26564280delA	ENSP00000370744:p.Ser2458fs					RP11-513G19.1_ENST00000535324.1_RNA	p.S2458fs	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			52	7788	-	Colorectal(261;0.0847)		2458					O94773	Frame_Shift_Del	DEL	ENST00000381340.3	37	c.7372delT	CCDS41764.1																																																																																				0.353	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		22	58						22	58	---	---	---	---
ARMC5	79798	broad.mit.edu	37	16	31473879	31473881	+	In_Frame_Del	DEL	TAA	TAA	-			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr16:31473879_31473881delTAA	ENST00000563544.1	+	4	1557_1559	c.1011_1013delTAA	c.(1009-1014)cctaat>cct	p.N338del	ARMC5_ENST00000268314.4_In_Frame_Del_p.N338del|RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000538189.1_In_Frame_Del_p.N370del|ARMC5_ENST00000457010.2_In_Frame_Del_p.N338del|ARMC5_ENST00000408912.3_In_Frame_Del_p.N433del			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	338										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GCCGGGATCCTAATGGAGCTAGC	0.66																																						ENST00000457010.2																			0				central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(1009-1014)cct>cc		armadillo repeat containing 5																																				SO:0001651	inframe_deletion	79798						binding	g.chr16:31473879_31473881delTAA	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.1011_1013delTAA	16.37:g.31473879_31473881delTAA	ENSP00000456877:p.Asn338del					ARMC5_ENST00000268314.4_In_Frame_Del_p.PN337del|ARMC5_ENST00000538189.1_In_Frame_Del_p.PN369del|ARMC5_ENST00000563544.1_In_Frame_Del_p.PN337del|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000408912.3_In_Frame_Del_p.PN432del	p.PN337del	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN			3	1712_1714	+			337					Q86WM9|Q9H7P8|Q9H925	In_Frame_Del	DEL	ENST00000563544.1	37	c.1011_1013delTAA	CCDS45472.1																																																																																				0.660	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		9	69						9	69	---	---	---	---
