#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
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	FAF1_ENST00000371778.4_Splice_Site_p.R344G|RNU6-1026P_ENST00000384465.1_RNA|FAF1_ENST00000472808.1_5'UTR|FAF1_ENST00000545823.1_Splice_Site_p.R102G	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.(1030-1032)Aga>Gga		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.R102G|FAF1_ENST00000371778.4_Splice_Site_p.R344G	p.R344G	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.1030A>G	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	10	31	---	---	---	---
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	3	48	---	---	---	---
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	7	22	---	---	---	---
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	32	85	---	---	---	---
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																																														54660							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	20	94	---	---	---	---
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_ENST00000425244.2_Splice_Site_p.G373V|CUX1_ENST00000547394.2_Splice_Site_p.G403V|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000393824.3_Splice_Site_p.G380V|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.(1249-1251)gGa>gTa		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_ENST00000547394.2_Splice_Site_p.G403V|CUX1_ENST00000393824.3_Splice_Site_p.G380V|CUX1_ENST00000292538.4_Splice_Site_p.G419V|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000425244.2_Splice_Site_p.G373V	p.G417V	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.1250G>T	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	3	12	---	---	---	---
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_ENST00000381869.3_Missense_Mutation_p.V301L|MTUS1_ENST00000519263.1_Missense_Mutation_p.V301L|MTUS1_ENST00000381862.3_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_ENST00000519263.1_Missense_Mutation_p.V301L|MTUS1_ENST00000381862.3_Missense_Mutation_p.V301L|MTUS1_ENST00000262102.6_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	4	144	---	---	---	---
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	GOLGA2_ENST00000609374.1_Missense_Mutation_p.P974L|AL590708.1_ENST00000408370.1_RNA	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					GOLGA2_ENST00000609374.1_Missense_Mutation_p.P974L	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	4	170	---	---	---	---
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	24	95	---	---	---	---
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	43	132	---	---	---	---
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	PTGR2_ENST00000553813.1_Missense_Mutation_p.I116V|PTGR2_ENST00000555228.1_Missense_Mutation_p.I250V|PTGR2_ENST00000267568.4_Missense_Mutation_p.I250V|RP5-1021I20.4_ENST00000556551.2_Missense_Mutation_p.I180V			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					RP5-1021I20.4_ENST00000556551.2_Missense_Mutation_p.I180V|PTGR2_ENST00000267568.4_Missense_Mutation_p.I250V|PTGR2_ENST00000555228.1_Missense_Mutation_p.I250V|PTGR2_ENST00000553813.1_Missense_Mutation_p.I116V	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	14	33	---	---	---	---
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	Y_RNA_ENST00000363138.1_RNA|RYR3_ENST00000415757.3_Silent_p.D2257D	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	38	88	---	---	---	---
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	SSH2_ENST00000540801.1_Missense_Mutation_p.K601E|RP11-68I3.2_ENST00000581474.1_RNA	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_001282129.1|NM_033389.2	NP_001269058.1|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	3	52	---	---	---	---
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	12	37	---	---	---	---
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_ENST00000425463.2_Nonsense_Mutation_p.Q124*|NXF3_ENST00000425644.1_5'UTR	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	71	71	---	---	---	---
ACTRT1	139741	broad.mit.edu	37	X	127185962	127185963	+	Missense_Mutation	DNP	TC	TC	GA			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:127185962_127185963TC>GA	ENST00000371124.3	-	1	419_420	c.223_224GA>TC	c.(223-225)GAg>TCg	p.E75S		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						CAGTCCACGCTCAATGGGGTAG	0.465																																						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|c.(223-225)Gag>Tag		actin-related protein T1																																				SO:0001583	missense	139741					cytoplasm|cytoskeleton		g.chrX:127185962T>G|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.223_224delinsGA	X.37:g.127185962_127185963delinsGA	ENSP00000360165:p.Glu75Ser						p.E75A|p.E75*	NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN			1	420|419	-			75					Q6X7C1|Q96L10	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000371124.3	37	c.224A>C|c.223G>T	CCDS14611.1																																																																																				0.465	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		5|4	121|115	4	115	---	---	---	---
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_ENST00000481784.1_Intron|ATE1_ENST00000369043.3_Intron|ATE1_ENST00000543447.1_Frame_Shift_Ins_p.P195fs|ATE1_ENST00000369040.3_Intron|ATE1_ENST00000535655.1_Frame_Shift_Ins_p.P11fs|ATE1_ENST00000540606.1_Intron	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)ccafs		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_ENST00000369040.3_Intron|ATE1_ENST00000224652.6_Frame_Shift_Ins_p.P310fs|ATE1_ENST00000543447.1_Frame_Shift_Ins_p.P195fs|ATE1_ENST00000481784.1_Intron|ATE1_ENST00000540606.1_Intron|ATE1_ENST00000369043.3_Intron	p.P11fs			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	---	---	---	---
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_ENST00000457010.2_In_Frame_Del_p.N338del|ARMC5_ENST00000268314.4_In_Frame_Del_p.N338del|ARMC5_ENST00000538189.1_In_Frame_Del_p.N370del|RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000408912.3_In_Frame_Del_p.N433del|ARMC5_ENST00000412665.2_Intron			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)cctaat>cct		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_ENST00000408912.3_In_Frame_Del_p.N433del|ARMC5_ENST00000563544.1_In_Frame_Del_p.N338del|ARMC5_ENST00000538189.1_In_Frame_Del_p.N370del|ARMC5_ENST00000268314.4_In_Frame_Del_p.N338del|ARMC5_ENST00000412665.2_Intron	p.N338del	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN			3	1712_1714	+			338					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	---	---	---	---
