#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
NDUFV1	4723	broad.mit.edu	37	11	67375940	67375940	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr11:67375940A>G	ENST00000322776.6	+	2	299	c.146A>G	c.(145-147)cAt>cGt	p.H49R	C11orf72_ENST00000446232.1_5'Flank|C11orf72_ENST00000333139.3_5'Flank|NDUFV1_ENST00000532303.1_Intron|NDUFV1_ENST00000415352.2_Missense_Mutation_p.H42R|RP11-655M14.12_ENST00000533876.1_RNA|NDUFV1_ENST00000529927.1_Missense_Mutation_p.H40R	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	49					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						TACGGCCGCCATGACTGGAGG	0.557																																						ENST00000322776.6																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						c.(145-147)cAt>cGt		NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	NADH(DB00157)						161.0	166.0	164.0					11																	67375940		2200	4295	6495	SO:0001583	missense	4723				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity	g.chr11:67375940A>G	AF092131	CCDS8173.1, CCDS53669.1	11q13	2011-07-04	2002-08-29		ENSG00000167792	ENSG00000167792	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7716	protein-coding gene	gene with protein product	"""complex I 51kDa subunit"", ""NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial"""	161015	"""NADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD)"""			1478657	Standard	NM_007103		Approved	CI-51K	uc001omj.2	P49821	OTTHUMG00000166215	ENST00000322776.6:c.146A>G	11.37:g.67375940A>G	ENSP00000322450:p.His49Arg					NDUFV1_ENST00000415352.2_Missense_Mutation_p.H42R|NDUFV1_ENST00000532303.1_Intron|NDUFV1_ENST00000529927.1_Missense_Mutation_p.H40R	p.H49R	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN			2	299	+			49					O60924|O60940|Q16104|Q6IBR3|Q96BF8|Q96HS7	Missense_Mutation	SNP	ENST00000322776.6	37	c.146A>G	CCDS8173.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.80|15.80	2.939270|2.939270	0.52972|0.52972	.|.	.|.	ENSG00000167792|ENSG00000167792	ENST00000322776;ENST00000528328;ENST00000529927;ENST00000415352;ENST00000529867;ENST00000453836|ENST00000530638	D;D;D;D;D|T	0.81579|0.75589	-1.51;-1.51;-1.51;-1.51;-1.51|-0.95	4.77|4.77	4.77|4.77	0.60923|0.60923	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83252|0.83252	0.5214|0.5214	M|M	0.84511|0.84511	2.7|2.7	0.80722|0.80722	D|D	1|1	P;P;D|.	0.56746|.	0.529;0.529;0.977|.	B;B;P|.	0.59825|.	0.355;0.254;0.864|.	T|T	0.83037|0.83037	-0.0159|-0.0159	10|7	0.72032|0.33141	D|T	0.01|0.24	-14.6599|-14.6599	12.2739|12.2739	0.54724|0.54724	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	42;40;49|.	G3V0I5;P49821-2;P49821|.	.;.;NDUV1_HUMAN|.	R|V	49;32;40;42;37;49|13	ENSP00000322450:H49R;ENSP00000436906:H32R;ENSP00000436766:H40R;ENSP00000395368:H42R;ENSP00000434438:H37R|ENSP00000436936:M13V	ENSP00000322450:H49R|ENSP00000436936:M13V	H|M	+|+	2|1	0|0	NDUFV1|NDUFV1	67132516|67132516	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.912000|0.912000	0.54170|0.54170	8.768000|8.768000	0.91737|0.91737	2.001000|2.001000	0.58596|0.58596	0.448000|0.448000	0.29417|0.29417	CAT|ATG		0.557	NDUFV1-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388406.1	NM_007103		22	282	0	0	0	1	0	22	282				
LDB2	9079	broad.mit.edu	37	4	16590333	16590333	+	Splice_Site	SNP	A	A	G			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr4:16590333A>G	ENST00000304523.5	-	4	854	c.531T>C	c.(529-531)caT>caC	p.H177H	LDB2_ENST00000503178.2_Splice_Site_p.H53H|LDB2_ENST00000515064.1_Splice_Site_p.H177H|LDB2_ENST00000503829.1_5'UTR|LDB2_ENST00000502640.1_Splice_Site_p.H177H|LDB2_ENST00000441778.2_Splice_Site_p.H177H	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	177					epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						AATTACTTACATGCATGGCTA	0.388																																						ENST00000502640.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						c.e4+1		LIM domain binding 2							164.0	149.0	154.0					4																	16590333		2203	4300	6503	SO:0001630	splice_region_variant	9079						LIM domain binding|transcription cofactor activity	g.chr4:16590333A>G	AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.531+1T>C	4.37:g.16590333A>G						LDB2_ENST00000503178.2_Splice_Site_p.H53_splice|LDB2_ENST00000441778.2_Splice_Site_p.H177_splice|LDB2_ENST00000515064.1_Splice_Site_p.H177_splice|LDB2_ENST00000503829.1_5'UTR|LDB2_ENST00000304523.5_Splice_Site_p.H177_splice	p.H177_splice			O43679	LDB2_HUMAN			4	679	-			177					O60619|O75480	Splice_Site	SNP	ENST00000304523.5	37	c.531_splice	CCDS3420.1	.	.	.	.	.	.	.	.	.	.	A	12.64	1.998863	0.35226	.	.	ENSG00000169744	ENST00000507464	.	.	.	5.17	-0.0353	0.13893	.	.	.	.	.	T	0.55114	0.1900	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46484	-0.9188	4	.	.	.	-11.7069	8.6837	0.34225	0.69:0.0:0.31:0.0	.	.	.	.	T	99	.	.	M	-	2	0	LDB2	16199431	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	1.323000	0.33701	-0.142000	0.11354	0.533000	0.62120	ATG		0.388	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250321.2		Silent	12	76	0	0	0	1	0	12	76				
UROC1	131669	broad.mit.edu	37	3	126202303	126202303	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr3:126202303A>G	ENST00000290868.2	-	19	1852	c.1799T>C	c.(1798-1800)gTg>gCg	p.V600A	UROC1_ENST00000383579.3_Missense_Mutation_p.V660A	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	600					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CCCGTTGATCACCTCACCCCT	0.597																																						ENST00000290868.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39						c.(1798-1800)gTg>gCg		urocanate hydratase 1																																				SO:0001583	missense	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126202303A>G	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1799T>C	3.37:g.126202303A>G	ENSP00000290868:p.Val600Ala					UROC1_ENST00000383579.3_Missense_Mutation_p.V660A	p.V600A	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	19	1852	-			600					E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	ENST00000290868.2	37	c.1799T>C	CCDS3038.1	.	.	.	.	.	.	.	.	.	.	a	7.413	0.635224	0.14322	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.39997	1.05;1.05	5.19	4.04	0.47022	Urocanase domain (2);	0.058034	0.64402	N	0.000002	T	0.34513	0.0900	L	0.37897	1.145	0.54753	D	0.999988	P;B	0.41366	0.747;0.002	P;B	0.47786	0.557;0.047	T	0.24728	-1.0152	10	0.02654	T	1	-0.5856	9.1385	0.36888	0.9125:0.0:0.0875:0.0	.	660;600	E9PE13;Q96N76	.;HUTU_HUMAN	A	600;660	ENSP00000290868:V600A;ENSP00000373073:V660A	ENSP00000290868:V600A	V	-	2	0	UROC1	127684993	1.000000	0.71417	0.999000	0.59377	0.178000	0.23041	6.647000	0.74354	0.833000	0.34828	0.392000	0.25879	GTG		0.597	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		8	41	0	0	0	1	0	8	41				
FNDC1	84624	broad.mit.edu	37	6	159653589	159653589	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr6:159653589G>A	ENST00000297267.9	+	11	2245	c.2045G>A	c.(2044-2046)cGc>cAc	p.R682H	FNDC1_ENST00000340366.6_Missense_Mutation_p.R619H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	682	Ser-rich.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R682H(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AGCGTTCTCCGCGACAGAAGC	0.716																																						ENST00000297267.9																			1	Substitution - Missense(1)	p.R682H(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(2044-2046)cGc>cAc		fibronectin type III domain containing 1							15.0	18.0	17.0					6																	159653589		1954	4109	6063	SO:0001583	missense	84624					extracellular region		g.chr6:159653589G>A	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.2045G>A	6.37:g.159653589G>A	ENSP00000297267:p.Arg682His					FNDC1_ENST00000340366.6_Missense_Mutation_p.R619H	p.R682H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	2245	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	682			Ser-rich.		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.2045G>A	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.251546	0.39797	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.09445	2.98;3.86	4.87	0.863	0.19062	.	0.929336	0.09006	N	0.862294	T	0.02455	0.0075	L	0.34521	1.04	0.09310	N	1	B;B	0.13594	0.008;0.004	B;B	0.13407	0.009;0.002	T	0.45308	-0.9270	10	0.46703	T	0.11	-2.4532	4.2237	0.10570	0.2908:0.1701:0.5391:0.0	.	619;682	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	H	682;619	ENSP00000297267:R682H;ENSP00000342460:R619H	ENSP00000297267:R682H	R	+	2	0	FNDC1	159573579	0.029000	0.19370	0.000000	0.03702	0.070000	0.16714	2.496000	0.45346	0.488000	0.27723	-0.122000	0.15005	CGC		0.716	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		7	52	0	0	0	1	0	7	52				
NDNF	79625	broad.mit.edu	37	4	121961146	121961146	+	Silent	SNP	C	C	T	rs367619657		TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr4:121961146C>T	ENST00000379692.4	-	3	778	c.252G>A	c.(250-252)gcG>gcA	p.A84A	NDNF_ENST00000506900.1_5'Flank	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	84					cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						ACTCCAAAGGCGCATCACAGG	0.522																																						ENST00000379692.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						c.(250-252)gcG>gcA		neuron-derived neurotrophic factor		C		1,3841		0,1,1920	90.0	89.0	89.0		252	-11.3	0.0	4		89	0,8266		0,0,4133	no	coding-synonymous	NDNF	NM_024574.3		0,1,6053	TT,TC,CC		0.0,0.026,0.0083		84/569	121961146	1,12107	1921	4133	6054	SO:0001819	synonymous_variant	79625							g.chr4:121961146C>T	BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 31"""	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.252G>A	4.37:g.121961146C>T							p.A84A	NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN			3	778	-			84					A8K0Q0|Q6UWE5|Q9H5P7	Silent	SNP	ENST00000379692.4	37	c.252G>A	CCDS3717.2																																																																																				0.522	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2	NM_024574		5	99	0	0	0	1	0	5	99				
ZNF254	9534	broad.mit.edu	37	19	24310294	24310294	+	Missense_Mutation	SNP	T	T	G	rs554981870		TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr19:24310294T>G	ENST00000357002.4	+	4	1607	c.1492T>G	c.(1492-1494)Tct>Gct	p.S498A	ZNF254_ENST00000342944.6_Missense_Mutation_p.S413A	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	498					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ATGTGGCAAATCTTTTAGCCA	0.408																																						ENST00000357002.4																			0											c.(1492-1494)Tct>Gct		zinc finger protein 254							60.0	62.0	61.0					19																	24310294		2201	4297	6498	SO:0001583	missense	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24310294T>G	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1492T>G	19.37:g.24310294T>G	ENSP00000349494:p.Ser498Ala					ZNF254_ENST00000342944.6_Missense_Mutation_p.S413A	p.S498A	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN			4	1607	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	498					A4QPC0|Q86XL7	Missense_Mutation	SNP	ENST00000357002.4	37	c.1492T>G	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-3.794782	0.00004	.	.	ENSG00000213096	ENST00000342944;ENST00000357002	T;T	0.35605	1.3;1.3	1.07	-0.329	0.12686	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12689	0.0308	N	0.04686	-0.185	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32322	-0.9911	9	0.02654	T	1	.	5.3479	0.16020	0.0:0.0:0.4143:0.5857	.	498	O75437	ZN254_HUMAN	A	413;498	ENSP00000445527:S413A;ENSP00000349494:S498A	ENSP00000445527:S413A	S	+	1	0	ZNF254	24102134	0.000000	0.05858	0.038000	0.18304	0.305000	0.27757	-1.126000	0.03254	-0.309000	0.08779	-0.762000	0.03455	TCT		0.408	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		4	84	0	0	0	1	0	4	84				
GFPT2	9945	broad.mit.edu	37	5	179745955	179745955	+	Splice_Site	SNP	C	C	T	rs529762937		TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr5:179745955C>T	ENST00000253778.8	-	10	965	c.796G>A	c.(796-798)Gct>Act	p.A266T	GFPT2_ENST00000520165.1_5'UTR	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	266	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TCTATGATAGCGCTGGGGCAA	0.607													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18796	0.0		0.0	False		,,,				2504	0.0					ENST00000253778.8																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.e10-1		glutamine-fructose-6-phosphate transaminase 2	L-Glutamine(DB00130)						48.0	49.0	49.0					5																	179745955		2088	4205	6293	SO:0001630	splice_region_variant	9945				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr5:179745955C>T	AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"""glutamine: fructose-6-phosphate aminotransferase 2"""	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.795-1G>A	5.37:g.179745955C>T						GFPT2_ENST00000520165.1_5'UTR	p.A266_splice	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		10	965	-	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	266			Glutamine amidotransferase type-2.		Q53XM2|Q9BWS4	Splice_Site	SNP	ENST00000253778.8	37	c.794_splice	CCDS43411.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996497	0.74818	.	.	ENSG00000131459	ENST00000253778;ENST00000518906	T;T	0.81247	0.96;-1.47	5.25	5.25	0.73442	Glutamine amidotransferase, type II (1);	0.000000	0.85682	D	0.000000	D	0.92974	0.7764	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.94925	0.8077	9	.	.	.	-21.7842	18.8486	0.92218	0.0:1.0:0.0:0.0	.	266	O94808	GFPT2_HUMAN	T	266;168	ENSP00000253778:A266T;ENSP00000431125:A168T	.	A	-	1	0	GFPT2	179678561	1.000000	0.71417	0.841000	0.33234	0.067000	0.16453	7.676000	0.84012	2.469000	0.83416	0.561000	0.74099	GCT		0.607	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	NM_005110	Missense_Mutation	8	34	0	0	0	1	0	8	34				
TPCN2	219931	broad.mit.edu	37	11	68822730	68822730	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr11:68822730C>A	ENST00000294309.3	+	4	440	c.339C>A	c.(337-339)taC>taA	p.Y113*	TPCN2_ENST00000542467.1_Nonsense_Mutation_p.Y113*|TPCN2_ENST00000442692.2_3'UTR	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	113					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACGTGCGCTACCGCGCTGCTC	0.617																																						ENST00000294309.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(337-339)taC>taA		two pore segment channel 2							130.0	119.0	123.0					11																	68822730		2200	4294	6494	SO:0001587	stop_gained	219931				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	g.chr11:68822730C>A	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.339C>A	11.37:g.68822730C>A	ENSP00000294309:p.Tyr113*					TPCN2_ENST00000542467.1_Nonsense_Mutation_p.Y113*|TPCN2_ENST00000442692.2_3'UTR	p.Y113*	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		4	440	+			113					Q9NT82	Nonsense_Mutation	SNP	ENST00000294309.3	37	c.339C>A	CCDS8189.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.075254	0.55646	.	.	ENSG00000162341	ENST00000356782;ENST00000294309;ENST00000542467	.	.	.	4.96	3.07	0.35406	.	0.407806	0.25386	N	0.031056	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.7521	12.1836	0.54226	0.0:0.7838:0.0:0.2162	.	.	.	.	X	43;113;113	.	ENSP00000294309:Y113X	Y	+	3	2	TPCN2	68579306	0.996000	0.38824	0.703000	0.30354	0.006000	0.05464	0.616000	0.24344	0.243000	0.21327	-1.134000	0.01955	TAC		0.617	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075		22	155	1	0	5.35356e-11	1	5.68816e-11	22	155				
PSME1	5720	broad.mit.edu	37	14	24606557	24606557	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr14:24606557A>G	ENST00000206451.6	+	4	268	c.163A>G	c.(163-165)Agc>Ggc	p.S55G	PSME1_ENST00000470718.1_3'UTR|EMC9_ENST00000558200.1_5'Flank|PSME1_ENST00000559123.1_5'UTR|RP11-468E2.5_ENST00000558478.1_lincRNA|PSME1_ENST00000561435.1_Missense_Mutation_p.S55G|PSME1_ENST00000382708.3_Missense_Mutation_p.S55G	NM_001281528.1|NM_006263.2	NP_001268457.1|NP_006254.1	Q06323	PSME1_HUMAN	proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)	55			S -> N (in dbSNP:rs1803830).		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(265;0.00831)		AGCCAACTTGAGCAATCTGAA	0.557																																						ENST00000382708.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(163-165)Agc>Ggc		proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)							101.0	111.0	108.0					14																	24606557		2203	4300	6503	SO:0001583	missense	5720				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|proteasome activator complex		g.chr14:24606557A>G		CCDS9612.1, CCDS41930.1, CCDS61415.1	14q11.2	2008-08-29			ENSG00000092010	ENSG00000092010		"""Proteasome (prosome, macropain) subunits"""	9568	protein-coding gene	gene with protein product		600654				8269930	Standard	NM_006263		Approved	IFI5111, PA28alpha	uc001wmh.3	Q06323	OTTHUMG00000028795	ENST00000206451.6:c.163A>G	14.37:g.24606557A>G	ENSP00000206451:p.Ser55Gly					PSME1_ENST00000561435.1_Missense_Mutation_p.S55G|PSME1_ENST00000206451.6_Missense_Mutation_p.S55G|PSME1_ENST00000470718.1_3'UTR|PSME1_ENST00000559123.1_5'UTR	p.S55G	NM_176783.1	NP_788955.1	Q06323	PSME1_HUMAN		GBM - Glioblastoma multiforme(265;0.00831)	4	226	+			55		S -> N (in dbSNP:rs1803830).			A6NJG9|H0YNE3|Q6IBM2|Q9UEF4	Missense_Mutation	SNP	ENST00000206451.6	37	c.163A>G	CCDS9612.1	.	.	.	.	.	.	.	.	.	.	a	11.95	1.791347	0.31685	.	.	ENSG00000092010	ENST00000206451;ENST00000382708	T;T	0.49720	0.77;0.77	4.88	4.88	0.63580	Proteasome activator pa28, REG alpha subunit (2);	0.264964	0.42821	D	0.000648	T	0.53158	0.1779	M	0.72894	2.215	0.41091	D	0.985593	P;P	0.49447	0.924;0.704	P;B	0.46510	0.519;0.294	T	0.61729	-0.7003	10	0.87932	D	0	-2.8521	12.4921	0.55905	1.0:0.0:0.0:0.0	.	55;55	A6NJG9;Q06323	.;PSME1_HUMAN	G	55	ENSP00000206451:S55G;ENSP00000372155:S55G	ENSP00000206451:S55G	S	+	1	0	PSME1	23676397	0.998000	0.40836	0.998000	0.56505	0.045000	0.14185	3.356000	0.52269	2.065000	0.61736	0.533000	0.62120	AGC		0.557	PSME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071910.2	NM_006263		8	137	0	0	0	1	0	8	137				
PDIK1L	149420	broad.mit.edu	37	1	26449050	26449050	+	Silent	SNP	T	T	C			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr1:26449050T>C	ENST00000374271.4	+	4	1295	c.1008T>C	c.(1006-1008)gaT>gaC	p.D336D	PDIK1L_ENST00000374269.1_Silent_p.D336D	NM_001243532.1|NM_001243533.1|NM_152835.4	NP_001230461.1|NP_001230462.1|NP_690048.1	Q8N165	PDK1L_HUMAN	PDLIM1 interacting kinase 1 like	336						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		CATTTAAAGATAGCAGCTGGG	0.373																																						ENST00000374271.4																			0				large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	7						c.(1006-1008)gaT>gaC		PDLIM1 interacting kinase 1 like							57.0	58.0	57.0					1																	26449050		2203	4300	6503	SO:0001819	synonymous_variant	149420					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr1:26449050T>C	AF411102	CCDS274.1	1p35.1	2008-02-05			ENSG00000175087	ENSG00000175087			18981	protein-coding gene	gene with protein product		610785				14631099	Standard	NM_152835		Approved	CLIK1L	uc009vsb.3	Q8N165	OTTHUMG00000007511	ENST00000374271.4:c.1008T>C	1.37:g.26449050T>C						PDIK1L_ENST00000374269.1_Silent_p.D336D	p.D336D	NM_001243532.1|NM_001243533.1|NM_152835.4	NP_001230461.1|NP_001230462.1|NP_690048.1	Q8N165	PDK1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)	4	1295	+		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)	336					B2R777|D3DPK2|Q5T2I0|Q8NDB3	Silent	SNP	ENST00000374271.4	37	c.1008T>C	CCDS274.1																																																																																				0.373	PDIK1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019752.1	NM_152835		6	62	0	0	0	1	0	6	62				
SPRR2F	6705	broad.mit.edu	37	1	153085010	153085010	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr1:153085010C>A	ENST00000468739.1	-	2	260	c.200G>T	c.(199-201)tGt>tTt	p.C67F	SPRR2B_ENST00000368752.4_Intron	NM_001014450.1	NP_001014450.1	Q96RM1	SPR2F_HUMAN	small proline-rich protein 2F	67					epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)		p.C67F(1)		large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTTGGGTGGACACTTTGGCTG	0.542																																						ENST00000468739.1																			1	Substitution - Missense(1)	p.C67F(1)	large_intestine(1)	large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4						c.(199-201)tGt>tTt		small proline-rich protein 2F							252.0	237.0	242.0					1																	153085010		2203	4298	6501	SO:0001583	missense	0				keratinization	cornified envelope|cytoplasm		g.chr1:153085010C>A	AF333956	CCDS30867.1	1q21-q22	2008-02-05			ENSG00000244094	ENSG00000244094			11266	protein-coding gene	gene with protein product						8325635, 11279051	Standard	NM_001014450		Approved		uc001fbi.3	Q96RM1	OTTHUMG00000014398	ENST00000468739.1:c.200G>T	1.37:g.153085010C>A	ENSP00000418193:p.Cys67Phe					SPRR2B_ENST00000368752.4_Intron	p.C67F	NM_001014450.1	NP_001014450.1	Q96RM1	SPR2F_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	260	-	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		67					Q5T9T3	Missense_Mutation	SNP	ENST00000468739.1	37	c.200G>T	CCDS30867.1	.	.	.	.	.	.	.	.	.	.	C	5.920	0.353776	0.11182	.	.	ENSG00000244094	ENST00000468739	T	0.33438	1.41	4.0	3.09	0.35607	.	0.203948	0.24779	N	0.035663	T	0.10895	0.0266	.	.	.	0.27899	N	0.939047	B	0.25743	0.133	B	0.27170	0.077	T	0.15292	-1.0442	9	0.87932	D	0	.	7.7382	0.28827	0.0:0.8828:0.0:0.1172	.	67	Q96RM1	SPR2F_HUMAN	F	67	ENSP00000418193:C67F	ENSP00000418193:C67F	C	-	2	0	SPRR2F	151351634	0.375000	0.25089	1.000000	0.80357	0.691000	0.40173	0.762000	0.26503	0.915000	0.36847	-0.699000	0.03677	TGT		0.542	SPRR2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040056.1			7	286	1	0	2.74318e-10	1	2.85515e-10	7	286				
TEX29	121793	broad.mit.edu	37	13	111996453	111996453	+	Missense_Mutation	SNP	G	G	A	rs560755834		TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr13:111996453G>A	ENST00000283547.1	+	6	568	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K		NM_152324.1	NP_689537.1	Q8N6K0	TEX29_HUMAN	testis expressed 29	147						integral component of membrane (GO:0016021)											AACAGAAGCCGAAGAAACTGA	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		19334	0.0		0.0	False		,,,				2504	0.001					ENST00000283547.1																			0											c.(439-441)Gaa>Aaa		testis expressed 29							94.0	98.0	96.0					13																	111996453		2203	4300	6503	SO:0001583	missense	121793					integral to membrane		g.chr13:111996453G>A	BC029889	CCDS9522.1	13q34	2012-03-23	2012-02-07	2012-02-07	ENSG00000153495	ENSG00000153495			20370	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 16"""	C13orf16			Standard	NM_152324		Approved	bA474D23.1, MGC35169	uc001vsa.3	Q8N6K0	OTTHUMG00000017358	ENST00000283547.1:c.439G>A	13.37:g.111996453G>A	ENSP00000283547:p.Glu147Lys						p.E147K	NM_152324.1	NP_689537.1	Q8N6K0	CM016_HUMAN			6	568	+			147						Missense_Mutation	SNP	ENST00000283547.1	37	c.439G>A	CCDS9522.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442974	0.43326	.	.	ENSG00000153495	ENST00000283547	.	.	.	3.12	2.27	0.28462	.	.	.	.	.	T	0.28732	0.0712	L	0.27053	0.805	0.09310	N	1	D	0.71674	0.998	P	0.48030	0.564	T	0.10222	-1.0639	8	0.87932	D	0	0.1083	5.907	0.19006	0.1448:0.0:0.8552:0.0	.	147	Q8N6K0	CM016_HUMAN	K	147	.	ENSP00000283547:E147K	E	+	1	0	C13orf16	110794454	0.001000	0.12720	0.002000	0.10522	0.001000	0.01503	0.372000	0.20467	0.877000	0.35895	0.561000	0.74099	GAA		0.378	TEX29-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045812.2	NM_152324		5	53	0	0	0	1	0	5	53				
EGFLAM	133584	broad.mit.edu	37	5	38431360	38431360	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr5:38431360T>A	ENST00000354891.3	+	15	2482	c.2136T>A	c.(2134-2136)gaT>gaA	p.D712E	EGFLAM_ENST00000397202.2_Missense_Mutation_p.D78E|EGFLAM_ENST00000322350.5_Missense_Mutation_p.D712E|EGFLAM_ENST00000336740.6_Missense_Mutation_p.D478E	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	712	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TACAGGTGGATAAGCAGAAGA	0.478																																					Colon(62;485 1295 3347 17454)	ENST00000322350.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(2134-2136)gaT>gaA		EGF-like, fibronectin type III and laminin G domains							155.0	132.0	140.0					5																	38431360		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38431360T>A	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.2136T>A	5.37:g.38431360T>A	ENSP00000346964:p.Asp712Glu					EGFLAM_ENST00000336740.6_Missense_Mutation_p.D478E|EGFLAM_ENST00000354891.3_Missense_Mutation_p.D712E|EGFLAM_ENST00000397202.2_Missense_Mutation_p.D78E	p.D712E	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN			15	2482	+	all_lung(31;0.000385)		712			Laminin G-like 2.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.2136T>A	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.990658	0.74589	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000397202;ENST00000339580	D;D;D;D	0.88664	-2.08;-2.08;-2.08;-2.41	5.59	0.75	0.18387	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.92685	0.7675	M	0.76938	2.355	0.80722	D	1	D;B;D	0.89917	1.0;0.22;0.997	D;B;D	0.91635	0.999;0.175;0.966	D	0.90701	0.4620	10	0.59425	D	0.04	-2.0545	9.4685	0.38829	0.0:0.4922:0.0:0.5078	.	478;712;712	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	E	712;712;478;78;478	ENSP00000346964:D712E;ENSP00000313084:D712E;ENSP00000337607:D478E;ENSP00000380385:D78E	ENSP00000313084:D712E	D	+	3	2	EGFLAM	38467117	0.998000	0.40836	0.993000	0.49108	0.951000	0.60555	0.526000	0.22971	0.108000	0.17862	0.460000	0.39030	GAT		0.478	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		11	65	0	0	0	1	0	11	65				
STXBP2	6813	broad.mit.edu	37	19	7707903	7707903	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr19:7707903A>G	ENST00000221283.5	+	12	1026	c.995A>G	c.(994-996)aAg>aGg	p.K332R	STXBP2_ENST00000602355.1_5'Flank|STXBP2_ENST00000441779.2_Missense_Mutation_p.K343R|STXBP2_ENST00000414284.2_Missense_Mutation_p.K329R	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	332					leukocyte mediated cytotoxicity (GO:0001909)|neutrophil degranulation (GO:0043312)|protein transport (GO:0015031)|regulation of mast cell degranulation (GO:0043304)|vesicle docking involved in exocytosis (GO:0006904)	azurophil granule (GO:0042582)|cytolytic granule (GO:0044194)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin-3 binding (GO:0030348)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						ATCCTGAAAAAGATGCCGCAG	0.612																																						ENST00000441779.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1027-1029)aAg>aGg		syntaxin binding protein 2							123.0	126.0	125.0					19																	7707903		2203	4300	6503	SO:0001583	missense	6813				leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding	g.chr19:7707903A>G	U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944			11445	protein-coding gene	gene with protein product		601717				8921365	Standard	NM_001127396		Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000221283.5:c.995A>G	19.37:g.7707903A>G	ENSP00000221283:p.Lys332Arg					STXBP2_ENST00000414284.2_Missense_Mutation_p.K329R|STXBP2_ENST00000221283.5_Missense_Mutation_p.K332R	p.K343R	NM_001272034.1	NP_001258963.1	Q15833	STXB2_HUMAN			12	1065	+			332					B4E175|E7EQD5|Q9BU65	Missense_Mutation	SNP	ENST00000221283.5	37	c.1028A>G	CCDS12181.1	.	.	.	.	.	.	.	.	.	.	A	18.28	3.589351	0.66105	.	.	ENSG00000076944	ENST00000221283;ENST00000414284;ENST00000441779;ENST00000543902	T;T;T	0.78595	-1.19;-1.19;-1.19	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.82342	0.5016	L	0.58925	1.835	0.58432	D	0.999995	D;B;D;D	0.54207	0.965;0.193;0.957;0.965	P;B;P;P	0.57371	0.819;0.147;0.723;0.819	T	0.82987	-0.0184	10	0.49607	T	0.09	-4.5759	12.5087	0.55995	1.0:0.0:0.0:0.0	.	343;298;329;332	E7EQD5;B4DY46;Q15833-2;Q15833	.;.;.;STXB2_HUMAN	R	332;329;343;332	ENSP00000221283:K332R;ENSP00000409471:K329R;ENSP00000413606:K343R	ENSP00000221283:K332R	K	+	2	0	STXBP2	7613903	1.000000	0.71417	1.000000	0.80357	0.233000	0.25261	9.208000	0.95075	1.850000	0.53721	0.377000	0.23210	AAG		0.612	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460963.1	NM_006949		4	148	0	0	0	1	0	4	148				
RPS27A	6233	broad.mit.edu	37	2	55462094	55462094	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr2:55462094A>G	ENST00000272317.6	+	5	641	c.317A>G	c.(316-318)tAt>tGt	p.Y106C	RPS27A_ENST00000402285.3_Missense_Mutation_p.Y106C|CLHC1_ENST00000407122.1_5'Flank|RPS27A_ENST00000404735.1_Missense_Mutation_p.Y106C|CLHC1_ENST00000401408.1_5'Flank|CLHC1_ENST00000406437.2_5'Flank|CLHC1_ENST00000406076.1_5'Flank|CLHC1_ENST00000494539.1_5'Flank	NM_002954.5	NP_002945.1	P62979	RS27A_HUMAN	ribosomal protein S27a	106					activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|viral transcription (GO:0019083)|virion assembly (GO:0019068)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|small ribosomal subunit (GO:0015935)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			cervix(1)|ovary(1)|urinary_tract(1)	3						CTGAAATATTATAAGGTGAGC	0.378																																						ENST00000272317.6																			0				cervix(1)|ovary(1)|urinary_tract(1)	3						c.(316-318)tAt>tGt		ribosomal protein S27a							44.0	43.0	43.0					2																	55462094		2203	4300	6503	SO:0001583	missense	6233				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	metal ion binding|structural constituent of ribosome	g.chr2:55462094A>G	AB007163	CCDS33202.1	2p16	2011-04-06			ENSG00000143947	ENSG00000143947		"""S ribosomal proteins"""	10417	protein-coding gene	gene with protein product	"""ubiquitin carboxyl extension protein 80"""	191343				9582194	Standard	NM_001135592		Approved	UBCEP80, Uba80, S27A	uc010yow.2	P62979	OTTHUMG00000151919	ENST00000272317.6:c.317A>G	2.37:g.55462094A>G	ENSP00000272317:p.Tyr106Cys					RPS27A_ENST00000404735.1_Missense_Mutation_p.Y106C|RPS27A_ENST00000402285.3_Missense_Mutation_p.Y106C	p.Y106C	NM_002954.5	NP_002945.1	P62979	RS27A_HUMAN			5	641	+			106					P02248|P02249|P02250|P14798|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BQ77|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000272317.6	37	c.317A>G	CCDS33202.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.233603	0.79688	.	.	ENSG00000143947	ENST00000402285;ENST00000272317;ENST00000449323;ENST00000404735	T;T;T;T	0.80480	-1.15;-1.15;-1.38;-1.15	5.01	5.01	0.66863	Ribosomal protein S27a (1);	0.000000	0.85682	D	0.000000	D	0.91181	0.7222	H	0.96080	3.765	0.80722	D	1	P	0.48694	0.914	P	0.55112	0.769	D	0.93799	0.7099	10	0.87932	D	0	.	14.7212	0.69308	1.0:0.0:0.0:0.0	.	106	P62979	RS27A_HUMAN	C	106	ENSP00000383981:Y106C;ENSP00000272317:Y106C;ENSP00000408482:Y106C;ENSP00000385659:Y106C	ENSP00000272317:Y106C	Y	+	2	0	RPS27A	55315598	1.000000	0.71417	0.937000	0.37676	0.936000	0.57629	9.021000	0.93673	1.882000	0.54519	0.477000	0.44152	TAT		0.378	RPS27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324423.15			5	24	0	0	0	1	0	5	24				
TRUB1	142940	broad.mit.edu	37	10	116734977	116734977	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr10:116734977A>G	ENST00000298746.3	+	8	950	c.889A>G	c.(889-891)Att>Gtt	p.I297V		NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	297					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		CAAATGGACAATTGATGACAT	0.433																																						ENST00000298746.3																			0				breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12						c.(889-891)Att>Gtt		TruB pseudouridine (psi) synthase family member 1							173.0	156.0	162.0					10																	116734977		2203	4300	6503	SO:0001583	missense	142940				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr10:116734977A>G	AF448144	CCDS7591.1	10q25.3	2013-09-02	2013-09-02		ENSG00000165832	ENSG00000165832			16060	protein-coding gene	gene with protein product		610726	"""TruB pseudouridine (psi) synthase homolog 1 (E. coli)"""			12736709	Standard	NM_139169		Approved	PUS4	uc001lcd.3	Q8WWH5	OTTHUMG00000019094	ENST00000298746.3:c.889A>G	10.37:g.116734977A>G	ENSP00000298746:p.Ile297Val						p.I297V	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN		Epithelial(162;0.00879)|all cancers(201;0.0243)	8	950	+		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)	297					B2R716|Q53ES2	Missense_Mutation	SNP	ENST00000298746.3	37	c.889A>G	CCDS7591.1	.	.	.	.	.	.	.	.	.	.	A	14.08	2.428570	0.43122	.	.	ENSG00000165832	ENST00000298746	T	0.13538	2.58	5.56	5.56	0.83823	Pseudouridine synthase, catalytic domain (1);	0.119683	0.64402	D	0.000006	T	0.14743	0.0356	L	0.48986	1.54	0.38135	D	0.938261	B	0.26318	0.146	B	0.22601	0.04	T	0.06303	-1.0834	10	0.29301	T	0.29	-16.9207	14.5741	0.68232	1.0:0.0:0.0:0.0	.	297	Q8WWH5	TRUB1_HUMAN	V	297	ENSP00000298746:I297V	ENSP00000298746:I297V	I	+	1	0	TRUB1	116724967	0.965000	0.33210	0.945000	0.38365	0.993000	0.82548	2.279000	0.43435	2.233000	0.73108	0.459000	0.35465	ATT		0.433	TRUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050504.1	NM_139169		16	149	0	0	0	1	0	16	149				
HIST1H4H	8365	broad.mit.edu	37	6	26285590	26285590	+	Silent	SNP	T	T	G			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr6:26285590T>G	ENST00000377727.1	-	1	147	c.138A>C	c.(136-138)cgA>cgC	p.R46R	HIST1H4H_ENST00000289352.1_Silent_p.R46R	NM_003543.3	NP_003534.1	P62805	H4_HUMAN	histone cluster 1, H4h	46					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			lung(2)|ovary(2)|upper_aerodigestive_tract(3)	7						GGCCAGAAATTCGCTTGACAC	0.547										HNSCC(76;0.23)																												ENST00000289352.1																			0				lung(2)|ovary(2)|upper_aerodigestive_tract(3)	7						c.(136-138)cgA>cgC		histone cluster 1, H4h							141.0	123.0	129.0					6																	26285590		2203	4300	6503	SO:0001819	synonymous_variant	8365				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26285590T>G	X60487	CCDS4604.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158406	ENSG00000158406		"""Histones / Replication-dependent"""	4788	protein-coding gene	gene with protein product		602828	"""H4 histone family, member H"", ""histone 1, H4h"""	H4FH		9119399, 12408966	Standard	NM_003543		Approved	H4/h	uc003nhm.2	P62805	OTTHUMG00000014454	ENST00000377727.1:c.138A>C	6.37:g.26285590T>G		HNSCC(76;0.23)				HIST1H4H_ENST00000377727.1_Silent_p.R46R	p.R46R			P62805	H4_HUMAN			1	172	-			46					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000377727.1	37	c.138A>C	CCDS4604.1																																																																																				0.547	HIST1H4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040119.1	NM_003543		11	124	0	0	0	1	0	11	124				
COL12A1	1303	broad.mit.edu	37	6	75814962	75814962	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr6:75814962G>A	ENST00000322507.8	-	54	8534	c.8225C>T	c.(8224-8226)aCa>aTa	p.T2742I	COL12A1_ENST00000483888.2_Missense_Mutation_p.T2742I|COL12A1_ENST00000345356.6_Missense_Mutation_p.T1578I|COL12A1_ENST00000416123.2_Missense_Mutation_p.T2666I	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2742	Nonhelical region (NC3).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GCTGTCCTGTGTACATGTGCA	0.378																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(8224-8226)aCa>aTa		collagen, type XII, alpha 1							64.0	80.0	75.0					6																	75814962		1869	4116	5985	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75814962G>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.8225C>T	6.37:g.75814962G>A	ENSP00000325146:p.Thr2742Ile					COL12A1_ENST00000345356.6_Missense_Mutation_p.T1578I|COL12A1_ENST00000483888.2_Missense_Mutation_p.T2742I|COL12A1_ENST00000416123.2_Missense_Mutation_p.T2666I	p.T2742I	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			54	8534	-			2742			Nonhelical region (NC3).		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.8225C>T	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.757608	0.69648	.	.	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	D;D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82;-2.82	5.62	5.62	0.85841	.	0.168895	0.49916	D	0.000122	D	0.91925	0.7443	M	0.64997	1.995	0.47094	D	0.99931	P;P	0.50369	0.934;0.892	P;P	0.52646	0.705;0.511	D	0.92487	0.5997	10	0.87932	D	0	.	19.6611	0.95871	0.0:0.0:1.0:0.0	.	1578;2742	Q99715-2;Q99715	.;COCA1_HUMAN	I	2742;380;2666;1578;2666;2742	ENSP00000325146:T2742I;ENSP00000399812:T380I;ENSP00000305147:T1578I;ENSP00000412864:T2666I;ENSP00000421216:T2742I	ENSP00000325146:T2742I	T	-	2	0	COL12A1	75871682	1.000000	0.71417	0.614000	0.29051	0.590000	0.36582	9.040000	0.93783	2.643000	0.89663	0.655000	0.94253	ACA		0.378	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		4	48	0	0	0	1	0	4	48				
CNGA4	1262	broad.mit.edu	37	11	6262661	6262661	+	Splice_Site	SNP	G	G	A			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr11:6262661G>A	ENST00000379936.2	+	5	1033	c.918G>A	c.(916-918)tgG>tgA	p.W306*	CNGA4_ENST00000533426.1_Splice_Site_p.W75*	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	306					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTACTCTCAGGTATCAGCACC	0.552																																						ENST00000379936.2																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40						c.e5-1		cyclic nucleotide gated channel alpha 4							91.0	82.0	85.0					11																	6262661		2201	4296	6497	SO:0001630	splice_region_variant	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6262661G>A	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.918-1G>A	11.37:g.6262661G>A						CNGA4_ENST00000533426.1_Splice_Site_p.W75_splice	p.W306_splice	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	5	1033	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	306						Splice_Site	SNP	ENST00000379936.2	37	c.917_splice	CCDS31408.1	.	.	.	.	.	.	.	.	.	.	G	34	5.332743	0.95733	.	.	ENSG00000132259	ENST00000533426;ENST00000379936	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4408	0.87564	0.0:0.0:1.0:0.0	.	.	.	.	X	75;306	.	.	W	+	3	0	CNGA4	6219237	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	7.405000	0.80007	2.691000	0.91804	0.655000	0.94253	TGG		0.552	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329	Nonsense_Mutation	21	110	0	0	0	1	0	21	110				
ARRB2	409	broad.mit.edu	37	17	4619828	4619828	+	Silent	SNP	A	A	C			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr17:4619828A>C	ENST00000269260.2	+	5	515	c.282A>C	c.(280-282)ccA>ccC	p.P94P	ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000570718.1_3'UTR|ARRB2_ENST00000412477.3_Silent_p.P94P|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000346341.2_Silent_p.P79P|ARRB2_ENST00000381488.6_Silent_p.P79P|ARRB2_ENST00000575877.1_Silent_p.P94P	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	94					adult walking behavior (GO:0007628)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell chemotaxis (GO:0060326)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|Notch signaling pathway (GO:0007219)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|receptor internalization (GO:0031623)|regulation of androgen receptor signaling pathway (GO:0060765)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	angiotensin receptor binding (GO:0031701)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						TGCCCAACCCACCCCGGCCCC	0.667																																						ENST00000269260.2																			0				large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						c.(280-282)ccA>ccC		arrestin, beta 2							30.0	25.0	26.0					17																	4619828		2203	4298	6501	SO:0001819	synonymous_variant	409				cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding	g.chr17:4619828A>C		CCDS11050.1, CCDS11051.1, CCDS58504.1, CCDS58505.1, CCDS59276.1	17p13	2008-12-11			ENSG00000141480	ENSG00000141480			712	protein-coding gene	gene with protein product	"""arrestin 3"""	107941		ARR2		7695743	Standard	NM_001257329		Approved	BARR2, DKFZp686L0365	uc002fyl.3	P32121	OTTHUMG00000090759	ENST00000269260.2:c.282A>C	17.37:g.4619828A>C						ARRB2_ENST00000381488.6_Silent_p.P79P|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000575877.1_Silent_p.P94P|ARRB2_ENST00000346341.2_Silent_p.P79P|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000570718.1_3'UTR|ARRB2_ENST00000412477.3_Silent_p.P94P|ARRB2_ENST00000571206.1_5'UTR	p.P94P	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN			5	515	+			94					B4DLW0|B5B0C0|B7WPL3|D3DTK2|H0Y688|Q0Z8D3|Q2PP19|Q6ICT3|Q8N7Y2|Q9UEQ6	Silent	SNP	ENST00000269260.2	37	c.282A>C	CCDS11050.1																																																																																				0.667	ARRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439552.1	NM_004313		6	27	0	0	0	1	0	6	27				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		6	70	0	0	0	1	0	6	70				
CLPB	81570	broad.mit.edu	37	11	72028171	72028171	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr11:72028171C>T	ENST00000294053.3	-	8	1230	c.1057G>A	c.(1057-1059)Gcc>Acc	p.A353T	CLPB_ENST00000543042.1_Missense_Mutation_p.A152T|CLPB_ENST00000437826.2_Missense_Mutation_p.A308T|CLPB_ENST00000340729.5_Missense_Mutation_p.A294T|CLPB_ENST00000538039.1_Missense_Mutation_p.A323T	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	353					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						GTGGCGATGGCGCTCTCCTGG	0.612																																						ENST00000294053.3																			0				endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						c.(1057-1059)Gcc>Acc		ClpB caseinolytic peptidase B homolog (E. coli)							110.0	95.0	101.0					11																	72028171		2200	4293	6493	SO:0001583	missense	81570				cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr11:72028171C>T	BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"""Ankyrin repeat domain containing"""	30664	protein-coding gene	gene with protein product	"""suppressor of potassium transport defect 3"""					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.1057G>A	11.37:g.72028171C>T	ENSP00000294053:p.Ala353Thr					CLPB_ENST00000543042.1_Missense_Mutation_p.A152T|CLPB_ENST00000437826.2_Missense_Mutation_p.A308T|CLPB_ENST00000538039.1_Missense_Mutation_p.A323T|CLPB_ENST00000340729.5_Missense_Mutation_p.A294T	p.A353T	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN			8	1230	-			353					B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Missense_Mutation	SNP	ENST00000294053.3	37	c.1057G>A	CCDS8215.1	.	.	.	.	.	.	.	.	.	.	C	36	5.903110	0.97087	.	.	ENSG00000162129	ENST00000294053;ENST00000538039;ENST00000535990;ENST00000340729;ENST00000437826;ENST00000543042	T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.59115	0.2170	M	0.63843	1.955	0.58432	D	0.999995	D;D;D;D;D	0.89917	0.995;0.999;0.999;1.0;1.0	P;D;P;D;D	0.70935	0.492;0.916;0.877;0.971;0.935	T	0.60026	-0.7343	10	0.87932	D	0	-15.4521	18.4028	0.90522	0.0:1.0:0.0:0.0	.	152;294;308;323;353	B4DXW4;F8W7P6;E7EWN6;Q9H078-2;Q9H078	.;.;.;.;CLPB_HUMAN	T	353;323;358;294;308;152	ENSP00000294053:A353T;ENSP00000441518:A323T;ENSP00000443822:A358T;ENSP00000340385:A294T;ENSP00000407296:A308T;ENSP00000439746:A152T	ENSP00000294053:A353T	A	-	1	0	CLPB	71705819	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	6.903000	0.75703	2.696000	0.92011	0.655000	0.94253	GCC		0.612	CLPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396889.1	NM_030813		4	171	0	0	0	1	0	4	171				
RB1CC1	9821	broad.mit.edu	37	8	53569195	53569195	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr8:53569195G>A	ENST00000025008.5	-	15	3717	c.3194C>T	c.(3193-3195)gCg>gTg	p.A1065V	RB1CC1_ENST00000435644.2_Missense_Mutation_p.A1065V|RB1CC1_ENST00000539297.1_Missense_Mutation_p.A1065V|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1065					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TTCCTTCAACGCAAGTTCAAC	0.383																																					GBM(180;1701 2102 13475 42023 52570)	ENST00000025008.5																			0				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(3193-3195)gCg>gTg		RB1-inducible coiled-coil 1							68.0	71.0	70.0					8																	53569195		2203	4298	6501	SO:0001583	missense	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53569195G>A	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.3194C>T	8.37:g.53569195G>A	ENSP00000025008:p.Ala1065Val					RB1CC1_ENST00000435644.2_Missense_Mutation_p.A1065V|RB1CC1_ENST00000539297.1_Missense_Mutation_p.A1065V|RB1CC1_ENST00000521611.1_Intron	p.A1065V	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN			15	3717	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	1065					Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	c.3194C>T	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745000	0.69418	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.04317	3.65;3.65;3.65	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.15262	0.0368	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.02173	-1.1201	10	0.36615	T	0.2	-18.8612	19.5436	0.95283	0.0:0.0:1.0:0.0	.	1065;1065	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	V	1065	ENSP00000025008:A1065V;ENSP00000396067:A1065V;ENSP00000445960:A1065V	ENSP00000025008:A1065V	A	-	2	0	RB1CC1	53731748	1.000000	0.71417	0.996000	0.52242	0.967000	0.64934	9.065000	0.93941	2.705000	0.92388	0.650000	0.86243	GCG		0.383	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		3	44	0	0	0	1	0	3	44				
ATP2B2	491	broad.mit.edu	37	3	10452394	10452394	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr3:10452394G>A	ENST00000352432.4	-	2	374	c.305C>T	c.(304-306)gCg>gTg	p.A102V	ATP2B2_ENST00000360273.2_Missense_Mutation_p.A102V|ATP2B2_ENST00000343816.4_Missense_Mutation_p.A102V|ATP2B2_ENST00000397077.1_Missense_Mutation_p.A102V|ATP2B2_ENST00000383800.4_Missense_Mutation_p.A102V			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	102					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GTCCTGCAGCGCCTCCCACAC	0.562																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(304-306)gCg>gTg		ATPase, Ca++ transporting, plasma membrane 2							196.0	215.0	209.0					3																	10452394		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10452394G>A	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.305C>T	3.37:g.10452394G>A	ENSP00000324172:p.Ala102Val					ATP2B2_ENST00000360273.2_Missense_Mutation_p.A102V|ATP2B2_ENST00000352432.4_Missense_Mutation_p.A102V|ATP2B2_ENST00000343816.4_Missense_Mutation_p.A102V|ATP2B2_ENST00000383800.4_Missense_Mutation_p.A102V	p.A102V			Q01814	AT2B2_HUMAN			5	880	-			102					O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.305C>T	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	G	35	5.536237	0.96460	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000342354	T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34	5.66	5.66	0.87406	ATPase, P-type cation-transporter, N-terminal (2);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.93301	0.7865	H	0.95816	3.725	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.996;0.969;0.998	D	0.94710	0.7891	10	0.87932	D	0	-35.0783	19.7543	0.96284	0.0:0.0:1.0:0.0	.	102;114;102	Q01814-7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	V	102;102;102;102;102;68;102	ENSP00000324172:A102V;ENSP00000373311:A102V;ENSP00000380267:A102V;ENSP00000353414:A102V;ENSP00000344677:A102V	ENSP00000342954:A102V	A	-	2	0	ATP2B2	10427394	1.000000	0.71417	0.955000	0.39395	0.960000	0.62799	9.869000	0.99810	2.680000	0.91292	0.561000	0.74099	GCG		0.562	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		31	490	0	0	0	1	0	31	490				
SEPHS2	22928	broad.mit.edu	37	16	30456444	30456444	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr16:30456444G>A	ENST00000478753.2	-	1	1058	c.605C>T	c.(604-606)gCg>gTg	p.A202V	SEPHS2_ENST00000542752.1_Missense_Mutation_p.A145V|SEPHS2_ENST00000500504.2_Missense_Mutation_p.A202V			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	202					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						TTCCTCAGCCGCATCCCGAAA	0.527																																					Esophageal Squamous(81;1142 1261 11202 24614 35697)	ENST00000478753.2																			0				breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						c.(604-606)gCg>gTg		selenophosphate synthetase 2							116.0	113.0	114.0					16																	30456444		2151	4240	6391	SO:0001583	missense	22928				selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity	g.chr16:30456444G>A	BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.605C>T	16.37:g.30456444G>A	ENSP00000418669:p.Ala202Val					SEPHS2_ENST00000542752.1_Missense_Mutation_p.A145V|SEPHS2_ENST00000500504.2_Missense_Mutation_p.A202V	p.A202V			Q99611	SPS2_HUMAN			1	1058	-			202					Q9BUQ2	Missense_Mutation	SNP	ENST00000478753.2	37	c.605C>T		.	.	.	.	.	.	.	.	.	.	G	16.10	3.028524	0.54790	.	.	ENSG00000179918	ENST00000478753;ENST00000542752;ENST00000418751;ENST00000500504	T;T;T	0.33865	1.39;1.39;1.39	5.51	5.51	0.81932	PurM, N-terminal-like (1);AIR synthase-related protein (1);	0.000000	0.85682	D	0.000000	T	0.31104	0.0786	L	0.39514	1.22	0.80722	D	1	P;P	0.42409	0.779;0.658	B;B	0.39027	0.288;0.079	T	0.03175	-1.1064	10	0.17369	T	0.5	-16.5139	17.2963	0.87171	0.0:0.0:1.0:0.0	.	202;145	Q99611;F5H8F9	SPS2_HUMAN;.	V	202;145;153;202	ENSP00000418669:A202V;ENSP00000443601:A145V;ENSP00000426234:A202V	ENSP00000390233:A153V	A	-	2	0	SEPHS2	30363945	1.000000	0.71417	0.791000	0.31998	0.233000	0.25261	9.366000	0.97143	2.759000	0.94783	0.563000	0.77884	GCG		0.527	SEPHS2-001	KNOWN	basic|seleno	protein_coding	protein_coding	OTTHUMT00000109640.11	NM_012248		4	128	0	0	0	1	0	4	128				
KIAA0319	9856	broad.mit.edu	37	6	24564490	24564490	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr6:24564490G>A	ENST00000378214.3	-	15	2895	c.2371C>T	c.(2371-2373)Cga>Tga	p.R791*	KIAA0319_ENST00000430948.2_Nonsense_Mutation_p.R746*|KIAA0319_ENST00000543707.1_Nonsense_Mutation_p.R791*|KIAA0319_ENST00000537886.1_Nonsense_Mutation_p.R791*|KIAA0319_ENST00000535378.1_Nonsense_Mutation_p.R782*	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	791	PKD 5. {ECO:0000255|PROSITE- ProRule:PRU00151}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TCGGTGACTCGCAAGTGGAAA	0.587																																						ENST00000535378.1																			0				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						c.(2344-2346)Cga>Tga		KIAA0319							104.0	84.0	91.0					6																	24564490		2203	4300	6503	SO:0001587	stop_gained	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24564490G>A	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.2371C>T	6.37:g.24564490G>A	ENSP00000367459:p.Arg791*					KIAA0319_ENST00000543707.1_Nonsense_Mutation_p.R791*|KIAA0319_ENST00000537886.1_Nonsense_Mutation_p.R791*|KIAA0319_ENST00000430948.2_Nonsense_Mutation_p.R746*|KIAA0319_ENST00000378214.3_Nonsense_Mutation_p.R791*	p.R782*	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN			16	2986	-			791			PKD 5.		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Nonsense_Mutation	SNP	ENST00000378214.3	37	c.2344C>T	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	G	38	7.277386	0.98182	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	.	.	.	4.32	1.14	0.20703	.	1.277500	0.05794	N	0.610884	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-0.0093	12.9857	0.58590	0.0:0.0:0.2299:0.7701	.	.	.	.	X	791;782;746;791;791	.	ENSP00000367459:R791X	R	-	1	2	KIAA0319	24672469	0.998000	0.40836	0.007000	0.13788	0.493000	0.33554	2.889000	0.48601	0.008000	0.14787	0.655000	0.94253	CGA		0.587	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		4	71	0	0	0	1	0	4	71				
TMEM150B	284417	broad.mit.edu	37	19	55831946	55831946	+	Silent	SNP	A	A	G			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr19:55831946A>G	ENST00000326652.4	-	4	290	c.108T>C	c.(106-108)agT>agC	p.S36S	TMEM150B_ENST00000438693.1_Silent_p.S36S	NM_001282011.1	NP_001268940.1	A6NC51	T150B_HUMAN	transmembrane protein 150B	36						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3						GAAAGCCTTTACTGAGGTCCA	0.527																																						ENST00000326652.4																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(106-108)agT>agC		transmembrane protein 150B							162.0	169.0	167.0					19																	55831946		2154	4272	6426	SO:0001819	synonymous_variant	284417					integral to membrane		g.chr19:55831946A>G	BC020862	CCDS42629.1	19q13.42	2009-06-12	2009-06-12	2009-06-12		ENSG00000180061			34415	protein-coding gene	gene with protein product			"""transmembrane protein 224"""	TMEM224			Standard	XM_005258812		Approved		uc010esw.1	A6NC51		ENST00000326652.4:c.108T>C	19.37:g.55831946A>G						TMEM150B_ENST00000438693.1_Silent_p.S36S	p.S36S			A6NC51	T150B_HUMAN			4	290	-			36					B7ZW71	Silent	SNP	ENST00000326652.4	37	c.108T>C	CCDS42629.1																																																																																				0.527	TMEM150B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452685.1	NM_001085488		5	171	0	0	0	1	0	5	171				
ARPP21	10777	broad.mit.edu	37	3	35778739	35778739	+	Missense_Mutation	SNP	G	G	A	rs376713321		TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr3:35778739G>A	ENST00000187397.4	+	16	1985	c.1529G>A	c.(1528-1530)cGa>cAa	p.R510Q	ARPP21_ENST00000417925.1_Missense_Mutation_p.R476Q|ARPP21_ENST00000337271.5_Missense_Mutation_p.R456Q|ARPP21_ENST00000444190.1_Missense_Mutation_p.R456Q|ARPP21_ENST00000458225.1_Missense_Mutation_p.R476Q	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	510	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CAGCCCCTGCGAAGCGCCATG	0.612																																						ENST00000187397.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(1528-1530)cGa>cAa		cAMP-regulated phosphoprotein, 21kDa							48.0	56.0	53.0					3																	35778739		2202	4300	6502	SO:0001583	missense	10777					cytoplasm	nucleic acid binding	g.chr3:35778739G>A	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1529G>A	3.37:g.35778739G>A	ENSP00000187397:p.Arg510Gln					ARPP21_ENST00000444190.1_Missense_Mutation_p.R456Q|ARPP21_ENST00000417925.1_Missense_Mutation_p.R476Q|ARPP21_ENST00000458225.1_Missense_Mutation_p.R476Q|ARPP21_ENST00000337271.5_Missense_Mutation_p.R456Q	p.R510Q	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN			16	1985	+			510			Gln-rich.		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	c.1529G>A	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154700	0.78114	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17	5.91	5.04	0.67666	.	0.108809	0.64402	D	0.000011	T	0.74703	0.3751	M	0.76328	2.33	0.38009	D	0.934488	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.99;0.998	T	0.75508	-0.3293	10	0.21540	T	0.41	-8.7414	16.9434	0.86224	0.0:0.1351:0.8649:0.0	.	476;510;456	Q9UBL0-3;Q9UBL0;Q9UBL0-4	.;ARP21_HUMAN;.	Q	476;456;456;510;476	ENSP00000414351:R476Q;ENSP00000337792:R456Q;ENSP00000405276:R456Q;ENSP00000187397:R510Q;ENSP00000412326:R476Q	ENSP00000187397:R510Q	R	+	2	0	ARPP21	35753743	1.000000	0.71417	0.897000	0.35233	0.536000	0.34869	5.805000	0.69143	1.498000	0.48600	0.655000	0.94253	CGA		0.612	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		11	108	0	0	0	1	0	11	108				
TRIM22	10346	broad.mit.edu	37	11	5730757	5730757	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr11:5730757T>G	ENST00000379965.3	+	8	1653	c.1376T>G	c.(1375-1377)gTc>gGc	p.V459G	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	459	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TTTTTCAATGTCACAAACCAC	0.463																																					GBM(104;491 2336 5222)	ENST00000379965.3																			0				kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23						c.(1375-1377)gTc>gGc		tripartite motif containing 22							126.0	131.0	129.0					11																	5730757		2201	4297	6498	SO:0001583	missense	10346				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr11:5730757T>G	X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16379	protein-coding gene	gene with protein product		606559	"""tripartite motif-containing 22"""			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.1376T>G	11.37:g.5730757T>G	ENSP00000369299:p.Val459Gly					TRIM5_ENST00000380027.1_Intron	p.V459G	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)	8	1653	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	459			B30.2/SPRY.		Q05CQ0|Q15521	Missense_Mutation	SNP	ENST00000379965.3	37	c.1376T>G	CCDS41612.1	.	.	.	.	.	.	.	.	.	.	T	16.93	3.259274	0.59321	.	.	ENSG00000132274	ENST00000379965;ENST00000545338;ENST00000455293	T	0.68624	-0.34	3.74	3.74	0.42951	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.79417	0.4442	M	0.84326	2.69	0.44092	D	0.996859	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.997;0.998	T	0.80195	-0.1483	9	0.87932	D	0	.	6.1839	0.20486	0.0:0.1213:0.0:0.8787	.	381;455;459	F8WAP8;Q8IYM9-2;Q8IYM9	.;.;TRI22_HUMAN	G	459;270;381	ENSP00000369299:V459G	ENSP00000369299:V459G	V	+	2	0	TRIM22	5687333	0.016000	0.18221	0.208000	0.23602	0.908000	0.53690	2.108000	0.41854	1.656000	0.50722	0.383000	0.25322	GTC		0.463	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	NM_006074		12	157	0	0	0	1	0	12	157				
HIST1H3F	8968	broad.mit.edu	37	6	26250482	26250482	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr6:26250482C>T	ENST00000446824.2	-	1	353	c.352G>A	c.(352-354)Gtg>Atg	p.V118M	HIST1H2BH_ENST00000356350.2_5'Flank	NM_021018.2	NP_066298.1	P68431	H31_HUMAN	histone cluster 1, H3f	118					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			lung(6)|urinary_tract(1)	7						ATGATAGTCACTCGCTTGGCG	0.582											OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000446824.2																			0				lung(6)|urinary_tract(1)	7						c.(352-354)Gtg>Atg		histone cluster 1, H3f							100.0	95.0	97.0					6																	26250482		2203	4300	6503	SO:0001583	missense	8968				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26250482C>T	Z80786	CCDS4600.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000256316	ENSG00000277775		"""Histones / Replication-dependent"""	4773	protein-coding gene	gene with protein product		602816	"""H3 histone family, member I"", ""histone 1, H3f"""	H3FI		9119399, 12408966	Standard	NM_021018		Approved	H3/i	uc003nhg.1	P68431	OTTHUMG00000014435	ENST00000446824.2:c.352G>A	6.37:g.26250482C>T	ENSP00000444823:p.Val118Met		OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	785		p.V118M	NM_021018.2	NP_066298.1	P68431	H31_HUMAN			1	353	-			118					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000446824.2	37	c.352G>A	CCDS4600.1	.	.	.	.	.	.	.	.	.	.	.	16.45	3.127110	0.56721	.	.	ENSG00000256316	ENST00000446824	T	0.50001	0.76	4.82	4.82	0.62117	.	.	.	.	.	T	0.60405	0.2266	.	.	.	0.44254	D	0.997104	.	.	.	.	.	.	T	0.65323	-0.6196	6	0.87932	D	0	.	17.7536	0.88442	0.0:1.0:0.0:0.0	.	.	.	.	M	118	ENSP00000444823:V118M	ENSP00000444823:V118M	V	-	1	0	HIST1H3F	26358461	1.000000	0.71417	1.000000	0.80357	0.256000	0.26092	4.821000	0.62679	2.602000	0.87976	0.561000	0.74099	GTG		0.582	HIST1H3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040098.1	NM_021018		14	119	0	0	0	1	0	14	119				
ZNF254	9534	broad.mit.edu	37	19	24310305	24310305	+	Silent	SNP	A	A	G	rs558737751	byFrequency	TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr19:24310305A>G	ENST00000357002.4	+	4	1618	c.1503A>G	c.(1501-1503)caA>caG	p.Q501Q	ZNF254_ENST00000342944.6_Silent_p.Q416Q	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	501					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				CTTTTAGCCAATCCTCAACCC	0.403													A|||	2	0.000399361	0.0	0.0	5008	,	,		19973	0.0		0.0	False		,,,				2504	0.002					ENST00000357002.4																			0											c.(1501-1503)caA>caG		zinc finger protein 254							58.0	60.0	60.0					19																	24310305		2200	4296	6496	SO:0001819	synonymous_variant	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24310305A>G	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1503A>G	19.37:g.24310305A>G						ZNF254_ENST00000342944.6_Silent_p.Q416Q	p.Q501Q	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN			4	1618	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	501					A4QPC0|Q86XL7	Silent	SNP	ENST00000357002.4	37	c.1503A>G	CCDS32983.1																																																																																				0.403	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		4	77	0	0	0	1	0	4	77				
MUC7	4589	broad.mit.edu	37	4	71346947	71346947	+	Silent	SNP	A	A	G			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr4:71346947A>G	ENST00000304887.5	+	3	676	c.486A>G	c.(484-486)ccA>ccG	p.P162P	MUC7_ENST00000413702.1_Silent_p.P162P|MUC7_ENST00000456088.1_Silent_p.P162P|MUC7_ENST00000514512.1_3'UTR	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	162	Thr-rich.			P -> A (in Ref. 4; AA sequence and 5; AA sequence). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CCCCAGCTCCACAAGACACCA	0.517																																						ENST00000413702.1																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(484-486)ccA>ccG		mucin 7, secreted							287.0	250.0	262.0					4																	71346947		2203	4300	6503	SO:0001819	synonymous_variant	4589					extracellular region	protein binding	g.chr4:71346947A>G	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.486A>G	4.37:g.71346947A>G						MUC7_ENST00000304887.5_Silent_p.P162P|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Silent_p.P162P	p.P162P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	774	+			162	P -> A (in Ref. 4; AA sequence and 5; AA sequence).		Thr-rich.		Q9UCD7|Q9UCD8	Silent	SNP	ENST00000304887.5	37	c.486A>G	CCDS3541.1																																																																																				0.517	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		5	190	0	0	0	1	0	5	190				
CEP170P1	645455	broad.mit.edu	37	4	119461491	119461491	+	RNA	SNP	G	G	C			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr4:119461491G>C	ENST00000412784.2	+	0	388					NR_003135.2		Q96L14	C170L_HUMAN	centrosomal protein 170kDa pseudogene 1								identical protein binding (GO:0042802)										TCAAGCAGCAGAGCCTCCCGA	0.448																																						ENST00000412784.2																			0																																																			0							g.chr4:119461491G>C	BC014590		4q26	2010-10-11	2010-10-11	2010-10-11	ENSG00000154608	ENSG00000154608			28364	pseudogene	pseudogene			"""KIAA0470-like"", ""centrosomal protein 170kDa-like"""	KIAA0470L, CEP170L			Standard	NR_003135		Approved	MGC26143, FAM68B	uc003icb.3	Q96L14	OTTHUMG00000132958		4.37:g.119461491G>C								NR_003135.2						0	388	+									RNA	SNP	ENST00000412784.2	37																																																																																						0.448	CEP170P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000364033.2	NR_003135.2		7	29	0	0	0	1	0	7	29				
ZEB1	6935	broad.mit.edu	37	10	31809236	31809236	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr10:31809236C>T	ENST00000320985.10	+	7	1083	c.973C>T	c.(973-975)Cga>Tga	p.R325*	ZEB1_ENST00000361642.5_Nonsense_Mutation_p.R326*|ZEB1_ENST00000560721.2_Nonsense_Mutation_p.R305*|ZEB1_ENST00000542815.3_Nonsense_Mutation_p.R258*|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000446923.2_Nonsense_Mutation_p.R309*			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	325					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CAGTCCCACACGACCACAGAT	0.428																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77	GRCh37	CM075048	ZEB1	M		c.(925-927)Cga>Tga		zinc finger E-box binding homeobox 1							123.0	122.0	122.0					10																	31809236		2203	4300	6503	SO:0001587	stop_gained	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31809236C>T	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.973C>T	10.37:g.31809236C>T	ENSP00000319248:p.Arg325*					ZEB1_ENST00000542815.3_Nonsense_Mutation_p.R258*|ZEB1_ENST00000560721.2_Nonsense_Mutation_p.R305*|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Nonsense_Mutation_p.R326*|ZEB1_ENST00000320985.10_Nonsense_Mutation_p.R325*	p.R309*	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN			7	1316	+		Prostate(175;0.0156)	325					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Nonsense_Mutation	SNP	ENST00000320985.10	37	c.925C>T	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.810071	0.50421	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000543514;ENST00000446923	.	.	.	5.62	2.34	0.29019	.	0.000000	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.4882	13.7258	0.62756	0.5245:0.4755:0.0:0.0	.	.	.	.	X	107;325;326;325;258;325;305;184;216;309	.	ENSP00000319248:R325X	R	+	1	2	ZEB1	31849242	0.972000	0.33761	0.989000	0.46669	0.998000	0.95712	2.464000	0.45067	0.663000	0.31027	0.655000	0.94253	CGA		0.428	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		6	49	0	0	0	1	0	6	49				
ZNF583	147949	broad.mit.edu	37	19	56935562	56935562	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr19:56935562G>A	ENST00000333201.9	+	5	1745	c.1535G>A	c.(1534-1536)aGa>aAa	p.R512K	ZNF583_ENST00000585612.1_Intron|ZNF583_ENST00000291598.7_Missense_Mutation_p.R512K	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	512					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		CTACATCAGAGAATTCATACT	0.388																																						ENST00000333201.9																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26						c.(1534-1536)aGa>aAa		zinc finger protein 583							107.0	112.0	111.0					19																	56935562		2203	4300	6503	SO:0001583	missense	147949				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56935562G>A	AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"""Zinc fingers, C2H2-type"", ""-"""	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.1535G>A	19.37:g.56935562G>A	ENSP00000388502:p.Arg512Lys					ZNF583_ENST00000291598.7_Missense_Mutation_p.R512K|ZNF583_ENST00000585612.1_Intron	p.R512K	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN		GBM - Glioblastoma multiforme(193;0.0564)	5	1745	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	512					O14850|Q2NKK3	Missense_Mutation	SNP	ENST00000333201.9	37	c.1535G>A	CCDS12943.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310671	0.60414	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.18338	2.22;2.22	4.65	1.34	0.21922	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48767	D	0.000168	T	0.21761	0.0524	L	0.31120	0.905	0.24039	N	0.996081	D	0.71674	0.998	D	0.85130	0.997	T	0.03534	-1.1027	9	.	.	.	.	4.7202	0.12915	0.2468:0.0:0.592:0.1612	.	512	Q96ND8	ZN583_HUMAN	K	512	ENSP00000291598:R512K;ENSP00000388502:R512K	.	R	+	2	0	ZNF583	61627374	0.000000	0.05858	0.729000	0.30791	0.982000	0.71751	0.327000	0.19663	0.676000	0.31285	0.655000	0.94253	AGA		0.388	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	NM_152478		19	104	0	0	0	1	0	19	104				
CREB3L2	64764	broad.mit.edu	37	7	137569739	137569739	+	Splice_Site	SNP	A	A	G			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr7:137569739A>G	ENST00000330387.6	-	10	1622		c.e10+1		CREB3L2_ENST00000456390.1_Silent_p.G424G	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2						cartilage development (GO:0051216)|chondrocyte differentiation (GO:0002062)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of transcription, DNA-templated (GO:0045893)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cAMP response element binding (GO:0035497)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						ATGCTGTCTTACCCACGGAGG	0.522			T	FUS	fibromyxoid sarcoma																																	ENST00000330387.6				Dom	yes		7	7q34	64764	T	cAMP responsive element binding protein 3-like 2			M	FUS		fibromyxoid sarcoma	FUS/CREB3L2(158)	0				breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.e10+1		cAMP responsive element binding protein 3-like 2							86.0	82.0	83.0					7																	137569739		2203	4300	6503	SO:0001630	splice_region_variant	64764				chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:137569739A>G	AJ549092	CCDS34760.1, CCDS59083.1	7q34	2013-01-10			ENSG00000182158	ENSG00000182158		"""basic leucine zipper proteins"""	23720	protein-coding gene	gene with protein product		608834					Standard	NM_194071		Approved	BBF2H7, TCAG_1951439	uc003vtw.3	Q70SY1	OTTHUMG00000155744	ENST00000330387.6:c.1270+1T>C	7.37:g.137569739A>G						CREB3L2_ENST00000456390.1_Silent_p.G424G		NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN			10	1622	-								Q6P454|Q6ZMR6	Splice_Site	SNP	ENST00000330387.6	37		CCDS34760.1	.	.	.	.	.	.	.	.	.	.	A	18.21	3.573481	0.65765	.	.	ENSG00000182158	ENST00000330387	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0031	0.80310	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CREB3L2	137220279	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	4.631000	0.61304	2.187000	0.69744	0.529000	0.55759	.		0.522	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341462.1	NM_194071	Intron	22	140	0	0	0	1	0	22	140				
PCNT	5116	broad.mit.edu	37	21	47836289	47836289	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr21:47836289A>C	ENST00000359568.5	+	30	6564	c.6457A>C	c.(6457-6459)Aat>Cat	p.N2153H	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2153					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTGTGATGCCAATACAACCCC	0.443																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(6457-6459)Aat>Cat		pericentrin							90.0	97.0	95.0					21																	47836289		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47836289A>C	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.6457A>C	21.37:g.47836289A>C	ENSP00000352572:p.Asn2153His					PCNT_ENST00000480896.1_3'UTR	p.N2153H	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			30	6564	+	Breast(49;0.112)		2153					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.6457A>C	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	A	9.477	1.097268	0.20552	.	.	ENSG00000160299	ENST00000359568	T	0.01495	4.83	0.853	-1.71	0.08133	.	.	.	.	.	T	0.01835	0.0058	N	0.08118	0	0.09310	N	1	D;P	0.54397	0.966;0.943	P;P	0.58721	0.844;0.703	T	0.48843	-0.8999	9	0.52906	T	0.07	.	2.1672	0.03840	0.5052:0.0:0.0:0.4948	.	2035;2153	O95613-2;O95613	.;PCNT_HUMAN	H	2153	ENSP00000352572:N2153H	ENSP00000352572:N2153H	N	+	1	0	PCNT	46660717	0.000000	0.05858	0.018000	0.16275	0.044000	0.14063	-0.953000	0.03877	0.103000	0.17682	0.102000	0.15555	AAT		0.443	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		22	95	0	0	0	1	0	22	95				
SLC7A9	11136	broad.mit.edu	37	19	33355594	33355594	+	Missense_Mutation	SNP	G	G	A	rs146154087		TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr19:33355594G>A	ENST00000023064.4	-	3	367	c.176C>T	c.(175-177)aCg>aTg	p.T59M	SLC7A9_ENST00000590341.1_Missense_Mutation_p.T59M|SLC7A9_ENST00000587772.1_Missense_Mutation_p.T59M|RN7SKP22_ENST00000365097.1_RNA	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	59					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CACAGCTTCCGTGTTGCTGAG	0.612													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17483	0.0		0.0	False		,,,				2504	0.0				GBM(181;1335 2108 9644 44178 46689)	ENST00000023064.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32						c.(175-177)aCg>aTg		solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	L-Cystine(DB00138)	G	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	136.0	127.0	130.0		176,176	2.5	1.0	19	dbSNP_134	130	0,8600		0,0,4300	no	missense,missense	SLC7A9	NM_001126335.1,NM_014270.4	81,81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	59/488,59/488	33355594	1,13005	2203	4300	6503	SO:0001583	missense	11136				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr19:33355594G>A	AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.176C>T	19.37:g.33355594G>A	ENSP00000023064:p.Thr59Met					SLC7A9_ENST00000587772.1_Missense_Mutation_p.T59M|SLC7A9_ENST00000590341.1_Missense_Mutation_p.T59M	p.T59M	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN			3	367	-	Esophageal squamous(110;0.137)		59					B2R9A6	Missense_Mutation	SNP	ENST00000023064.4	37	c.176C>T	CCDS12425.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	12.31	1.901003	0.33535	2.27E-4	0.0	ENSG00000021488	ENST00000023064	D	0.90324	-2.65	5.13	2.47	0.30058	Amino acid permease domain (1);	0.361979	0.32703	N	0.005744	D	0.86091	0.5850	L	0.58583	1.82	0.46927	D	0.999259	B	0.25105	0.118	B	0.26202	0.067	T	0.81590	-0.0863	10	0.41790	T	0.15	.	6.5125	0.22230	0.3632:0.0:0.6368:0.0	.	59	P82251	BAT1_HUMAN	M	59	ENSP00000023064:T59M	ENSP00000023064:T59M	T	-	2	0	SLC7A9	38047434	0.997000	0.39634	0.996000	0.52242	0.887000	0.51463	2.775000	0.47702	1.196000	0.43129	0.462000	0.41574	ACG		0.612	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1			5	230	0	0	0	1	0	5	230				
PTPN14	5784	broad.mit.edu	37	1	214557031	214557031	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr1:214557031delG	ENST00000366956.5	-	13	2361	c.2167delC	c.(2167-2169)cagfs	p.Q723fs	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	723					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		ATGGGGATCTGGGGCACCGAT	0.617																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			0				NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(2167-2169)agfs		protein tyrosine phosphatase, non-receptor type 14							44.0	48.0	47.0					1																	214557031		2203	4300	6503	SO:0001589	frameshift_variant	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214557031delG	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.2167delC	1.37:g.214557031delG	ENSP00000355923:p.Gln723fs					PTPN14_ENST00000543945.1_3'UTR	p.Q723fs	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	2361	-			723					Q5VSI0	Frame_Shift_Del	DEL	ENST00000366956.5	37	c.2167delC	CCDS1514.1																																																																																				0.617	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		9	98						9	98	---	---	---	---
FRG1	2483	broad.mit.edu	37	4	190873437	190873439	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr4:190873437_190873439delAAG	ENST00000226798.4	+	3	476_478	c.254_256delAAG	c.(253-258)aaagaa>aaa	p.E86del	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	86					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GCTCCACACAAAGAAGGTTTGTG	0.414																																						ENST00000226798.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(253-258)aaa>a		FSHD region gene 1				24,4216		0,24,2096						3.5	1.0		dbSNP_134	78	47,8181		0,47,4067	no	coding	FRG1	NM_004477.2		0,71,6163	A1A1,A1R,RR		0.5712,0.566,0.5695				71,12397				SO:0001651	inframe_deletion	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190873437_190873439delAAG	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.254_256delAAG	4.37:g.190873440_190873442delAAG	ENSP00000226798:p.Glu86del					FRG1_ENST00000514482.1_3'UTR	p.KE85del	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	3	476_478	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	85					A8K775	In_Frame_Del	DEL	ENST00000226798.4	37	c.254_256delAAG	CCDS34121.1																																																																																				0.414	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		8	234						8	234	---	---	---	---
RASGEF1A	221002	broad.mit.edu	37	10	43698747	43698747	+	Splice_Site	DEL	T	T	-			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr10:43698747delT	ENST00000395809.1	-	3	2826	c.320delA	c.(319-321)aag>ag	p.K107fs	RASGEF1A_ENST00000472864.1_5'UTR|RASGEF1A_ENST00000395810.1_Splice_Site_p.K107fs|RASGEF1A_ENST00000374459.1_Splice_Site_p.K115fs			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	107	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				cell migration (GO:0016477)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						CCGCCTCACCTTTTCAGGCCC	0.697																																						ENST00000395809.1																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.e3+1		RasGEF domain family, member 1A							8.0	8.0	8.0					10																	43698747		2136	4212	6348	SO:0001630	splice_region_variant	221002				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr10:43698747delT	AK095136	CCDS7202.2, CCDS60517.1	10q11.21	2006-01-11			ENSG00000198915	ENSG00000198915			24246	protein-coding gene	gene with protein product		614531				12477932	Standard	XM_005271808		Approved	CG4853, FLJ37817	uc001jap.1	Q8N9B8	OTTHUMG00000018025	ENST00000395809.1:c.321+1A>-	10.37:g.43698747delT						RASGEF1A_ENST00000374459.1_Splice_Site_p.K115_splice|RASGEF1A_ENST00000395810.1_Splice_Site_p.K107_splice|RASGEF1A_ENST00000472864.1_5'UTR	p.K107_splice			Q8N9B8	RGF1A_HUMAN			3	2826	-			107			N-terminal Ras-GEF.		Q8TBF1	Splice_Site	DEL	ENST00000395809.1	37	c.321_splice	CCDS7202.2																																																																																				0.697	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313989.1	NM_145313	Frame_Shift_Del	2	4						2	4	---	---	---	---
B4GALNT4	338707	broad.mit.edu	37	11	376692	376692	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr11:376692delA	ENST00000329962.6	+	14	1569	c.1569delA	c.(1567-1569)ccafs	p.P523fs		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	523	Pro-rich.				metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGCCGCCCCCAAAGGTGTACG	0.771																																						ENST00000329962.6																			0				endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24						c.(1567-1569)ccfs		beta-1,4-N-acetyl-galactosaminyl transferase 4							2.0	3.0	3.0					11																	376692		1438	3062	4500	SO:0001589	frameshift_variant	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:376692delA	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.1569delA	11.37:g.376692delA	ENSP00000328277:p.Pro523fs						p.P523fs	NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	14	1569	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	523			Pro-rich.		Q96LV2	Frame_Shift_Del	DEL	ENST00000329962.6	37	c.1569delA	CCDS7694.1																																																																																				0.771	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		2	4						2	4	---	---	---	---
MYO7A	4647	broad.mit.edu	37	11	76901186	76901186	+	Splice_Site	DEL	T	T	-			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr11:76901186delT	ENST00000409709.3	+	29	4022		c.e29+2		MYO7A_ENST00000458637.2_Splice_Site|MYO7A_ENST00000409619.2_Splice_Site	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA						actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GAGCTGCAGGTTCgtgcgtgt	0.622																																						ENST00000409709.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	GRCh37	CS971821	MYO7A	S		c.e29+2		myosin VIIA							18.0	22.0	21.0					11																	76901186		2123	4195	6318	SO:0001630	splice_region_variant	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76901186delT	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.3750+2T>-	11.37:g.76901186delT						MYO7A_ENST00000409619.2_Splice_Site|MYO7A_ENST00000458637.2_Splice_Site		NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			29	4022	+								B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Splice_Site	DEL	ENST00000409709.3	37		CCDS53683.1																																																																																				0.622	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260	Intron	2	4						2	4	---	---	---	---
RP11-26F2.1	0	broad.mit.edu	37	15	23131706	23131706	+	RNA	DEL	A	A	-	rs144278477	byFrequency	TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr15:23131706delA	ENST00000560053.1	-	0	129																											GATATTCTCCAATGTCATTTT	0.259													|||unknown(ALL_OTHER_Ns)	825	0.164736	0.3124	0.2651	5008	,	,		14054	0.0149		0.1382	False		,,,				2504	0.0757					ENST00000560053.1																			0																																																			0							g.chr15:23131706delA																													15.37:g.23131706delA														0	129	-									RNA	DEL	ENST00000560053.1	37																																																																																						0.259	RP11-26F2.1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415904.1			5	4						5	4	---	---	---	---
RP13-329D4.3	0	broad.mit.edu	37	20	26113543	26113543	+	lincRNA	DEL	A	A	-	rs375245697		TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr20:26113543delA	ENST00000416563.1	-	0	250																											TCTTTGCCTTAACAACATTAT	0.363																																						ENST00000416563.1																			0																																																			0							g.chr20:26113543delA																													20.37:g.26113543delA														0	250	-									RNA	DEL	ENST00000416563.1	37																																																																																						0.363	RP13-329D4.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000078482.1			5	10						5	10	---	---	---	---
MIR3687-2	103504728	broad.mit.edu	37	21	9825852	9825853	+	RNA	INS	-	-	A			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr21:9825852_9825853insA	ENST00000577708.1	+	0	0				MIR3648_ENST00000581792.1_RNA	NR_037458.1																						gcggcggtggtggggggagccg	0.837																																						ENST00000581792.1																			0																																																			0							g.chr21:9825852_9825853insA																													21.37:g.9825852_9825853insA								NR_037421.1						0	21_22	+									RNA	INS	ENST00000577708.1	37																																																																																						0.837	MIR3687-201	KNOWN	basic	miRNA	miRNA				4	3						4	3	---	---	---	---
