#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
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																0							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		3	45	0	0	0	1	0	3	45				
PON2	5445	broad.mit.edu	37	7	95039375	95039375	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr7:95039375T>C	ENST00000222572.3	-	6	779	c.533A>G	c.(532-534)tAt>tGt	p.Y178C	PON2_ENST00000483292.1_5'UTR|PON2_ENST00000433091.2_Missense_Mutation_p.Y166C|PON2_ENST00000536183.1_Missense_Mutation_p.Y199C			Q15165	PON2_HUMAN	paraoxonase 2	178					aromatic compound catabolic process (GO:0019439)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arylesterase activity (GO:0004064)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			ATTTGTGGCATAGAAATGTGC	0.368																																					GBM(42;803 823 13649 23368 31463)	ENST00000536183.1																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(595-597)tAt>tGt		paraoxonase 2							97.0	92.0	94.0					7																	95039375		2203	4300	6503	SO:0001583	missense	5445				aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding	g.chr7:95039375T>C	M63012, AF001601	CCDS5640.1, CCDS47644.1	7q21.3	2014-03-14			ENSG00000105854	ENSG00000105854	3.1.1.2	"""Paraoxonases"""	9205	protein-coding gene	gene with protein product	"""paraoxonase nirs"", ""arylesterase 2"""	602447				8661009, 9714608	Standard	XM_005250453		Approved		uc003unv.3	Q15165	OTTHUMG00000153948	ENST00000222572.3:c.533A>G	7.37:g.95039375T>C	ENSP00000222572:p.Tyr178Cys					PON2_ENST00000483292.1_5'UTR|PON2_ENST00000433091.2_Missense_Mutation_p.Y166C|PON2_ENST00000222572.3_Missense_Mutation_p.Y178C	p.Y199C	NM_000305.2	NP_000296.2	Q15165	PON2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		6	779	-	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		178					A4D1H7|B2RCP9|B4DJD5|O15114|O15115|O75856|Q5FBX7|Q86YL0	Missense_Mutation	SNP	ENST00000222572.3	37	c.596A>G	CCDS5640.1	.	.	.	.	.	.	.	.	.	.	T	18.97	3.735365	0.69189	.	.	ENSG00000105854	ENST00000536183;ENST00000355659;ENST00000433091;ENST00000222572	T;T;T	0.58506	0.33;0.33;0.33	4.97	4.97	0.65823	Six-bladed beta-propeller, TolB-like (1);	0.056140	0.64402	D	0.000001	T	0.80706	0.4674	M	0.91354	3.2	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85512	0.1198	10	0.87932	D	0	-3.641	15.1215	0.72447	0.0:0.0:0.0:1.0	.	178;178	A4D1H7;Q15165	.;PON2_HUMAN	C	199;176;166;178	ENSP00000440282:Y199C;ENSP00000404622:Y166C;ENSP00000222572:Y178C	ENSP00000222572:Y178C	Y	-	2	0	PON2	94877311	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.547000	0.67249	2.222000	0.72286	0.528000	0.53228	TAT		0.368	PON2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333142.1	NM_000305		16	21	0	0	0	1	0	16	21				
BPTF	2186	broad.mit.edu	37	17	65916199	65916199	+	Nonsense_Mutation	SNP	C	C	T			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr17:65916199C>T	ENST00000321892.4	+	15	5936	c.5875C>T	c.(5875-5877)Cga>Tga	p.R1959*	BPTF_ENST00000424123.3_Nonsense_Mutation_p.R1820*|BPTF_ENST00000335221.5_Nonsense_Mutation_p.R1959*|BPTF_ENST00000306378.6_Nonsense_Mutation_p.R1833*			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1959					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTATGGCATTCGATCTGAATA	0.318																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(5875-5877)Cga>Tga		bromodomain PHD finger transcription factor							135.0	140.0	138.0					17																	65916199		2203	4300	6503	SO:0001587	stop_gained	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65916199C>T	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.5875C>T	17.37:g.65916199C>T	ENSP00000315454:p.Arg1959*					BPTF_ENST00000306378.6_Nonsense_Mutation_p.R1833*|BPTF_ENST00000424123.3_Nonsense_Mutation_p.R1820*|BPTF_ENST00000335221.5_Nonsense_Mutation_p.R1959*	p.R1959*			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		15	5936	+	all_cancers(12;6e-11)		1959					Q6NX67|Q7Z7D6|Q9UIG2	Nonsense_Mutation	SNP	ENST00000321892.4	37	c.5875C>T		.	.	.	.	.	.	.	.	.	.	C	48	14.125943	0.99780	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	.	.	.	5.65	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.7048	15.9648	0.79961	0.1354:0.8646:0.0:0.0	.	.	.	.	X	1833;1959;1959	.	ENSP00000307208:R1833X	R	+	1	2	BPTF	63346661	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.830000	0.62745	2.667000	0.90743	0.655000	0.94253	CGA		0.318	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		5	86	0	0	0	1	0	5	86				
C4orf17	84103	broad.mit.edu	37	4	100434271	100434271	+	Silent	SNP	G	G	A			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr4:100434271G>A	ENST00000326581.4	+	2	395	c.33G>A	c.(31-33)caG>caA	p.Q11Q	C4orf17_ENST00000514652.1_Silent_p.Q11Q	NM_032149.2	NP_115525.2	Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	11										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		CTGCTCTTCAGATCGAGGGCA	0.463																																						ENST00000514652.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18						c.(31-33)caG>caA		chromosome 4 open reading frame 17							98.0	81.0	87.0					4																	100434271		2203	4300	6503	SO:0001819	synonymous_variant	84103							g.chr4:100434271G>A	AL136838	CCDS3649.1	4q23	2008-02-05			ENSG00000138813	ENSG00000138813			25274	protein-coding gene	gene with protein product						11230166	Standard	NM_032149		Approved	DKFZP434G072	uc003huw.3	Q53FE4	OTTHUMG00000131027	ENST00000326581.4:c.33G>A	4.37:g.100434271G>A						C4orf17_ENST00000326581.4_Silent_p.Q11Q	p.Q11Q			Q53FE4	CD017_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)	2	387	+			11					Q6FI84|Q6IS77|Q8NA78|Q9H0D9	Silent	SNP	ENST00000326581.4	37	c.33G>A	CCDS3649.1																																																																																				0.463	C4orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253670.2	NM_032149		8	51	0	0	0	1	0	8	51				
RASEF	158158	broad.mit.edu	37	9	85615158	85615158	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr9:85615158G>A	ENST00000376447.3	-	12	1909	c.1649C>T	c.(1648-1650)gCt>gTt	p.A550V		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	550					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CCCCACTGCAGCGTCCCCAGC	0.453																																						ENST00000376447.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(1648-1650)gCt>gTt		RAS and EF-hand domain containing							90.0	89.0	90.0					9																	85615158		2203	4300	6503	SO:0001583	missense	158158				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding	g.chr9:85615158G>A	AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"""EF-hand domain containing"", ""RAB, member RAS oncogene"""	26464	protein-coding gene	gene with protein product		611344	"""RAB45, member RAS oncogene family"""	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.1649C>T	9.37:g.85615158G>A	ENSP00000365630:p.Ala550Val						p.A550V	NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN			12	1909	-			550					A6NC29|Q96N04	Missense_Mutation	SNP	ENST00000376447.3	37	c.1649C>T	CCDS6662.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.857170	0.91433	.	.	ENSG00000165105	ENST00000376447	T	0.77229	-1.08	6.04	6.04	0.98038	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84188	0.5417	L	0.33189	0.99	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84828	0.0800	10	0.87932	D	0	.	20.2052	0.98274	0.0:0.0:1.0:0.0	.	550	Q8IZ41	RASEF_HUMAN	V	550	ENSP00000365630:A550V	ENSP00000365630:A550V	A	-	2	0	RASEF	84804978	1.000000	0.71417	0.810000	0.32431	0.529000	0.34654	6.334000	0.72944	2.873000	0.98535	0.563000	0.77884	GCT		0.453	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1	NM_152573		9	62	0	0	0	1	0	9	62				
ZNF468	90333	broad.mit.edu	37	19	53343985	53343985	+	Missense_Mutation	SNP	T	T	G			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr19:53343985T>G	ENST00000595646.1	-	4	1682	c.1562A>C	c.(1561-1563)aAg>aCg	p.K521T	ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000390651.4_Missense_Mutation_p.K468T|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000396409.4_Missense_Mutation_p.K468T			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	521					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(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		CTATTAAGGCTTCTCTCCACT	0.413																																						ENST00000595646.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23						c.(1561-1563)aAg>aCg		zinc finger protein 468							169.0	152.0	158.0					19																	53343985		2203	4300	6503	SO:0001583	missense	90333				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53343985T>G	AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"""Zinc fingers, C2H2-type"", ""-"""	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.1562A>C	19.37:g.53343985T>G	ENSP00000470381:p.Lys521Thr					ZNF468_ENST00000243639.4_3'UTR|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000396409.4_Missense_Mutation_p.K468T|ZNF468_ENST00000390651.4_Missense_Mutation_p.K468T	p.K521T			Q5VIY5	ZN468_HUMAN		GBM - Glioblastoma multiforme(134;0.0358)	4	1682	-			521					A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Missense_Mutation	SNP	ENST00000595646.1	37	c.1562A>C	CCDS33094.1	.	.	.	.	.	.	.	.	.	.	-	9.278	1.047398	0.19827	.	.	ENSG00000204604	ENST00000243639;ENST00000396409;ENST00000390651	T;T	0.08984	3.03;3.03	1.99	1.99	0.26369	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26521	0.0648	M	0.83774	2.66	0.23519	N	0.997509	D	0.55800	0.973	D	0.65010	0.931	T	0.02676	-1.1125	9	0.87932	D	0	.	8.6967	0.34301	0.0:0.0:0.0:1.0	.	521	Q5VIY5	ZN468_HUMAN	T	521;468;468	ENSP00000379690:K468T;ENSP00000445669:K468T	ENSP00000243639:K521T	K	-	2	0	ZNF468	58035797	0.006000	0.16342	0.118000	0.21660	0.007000	0.05969	-0.249000	0.08842	0.899000	0.36444	0.386000	0.25728	AAG		0.413	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1	NM_001008801		31	79	0	0	0	1	0	31	79				
ANK2	287	broad.mit.edu	37	4	114279596	114279596	+	Silent	SNP	C	C	A	rs144939151		TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr4:114279596C>A	ENST00000357077.4	+	38	9875	c.9822C>A	c.(9820-9822)ccC>ccA	p.P3274P	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Silent_p.P3241P|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3274					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.P3274P(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATGATTCTCCCGATTCTTCCC	0.438																																						ENST00000357077.4																			1	Substitution - coding silent(1)	p.P3274P(1)	lung(1)	NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(9820-9822)ccC>ccA		ankyrin 2, neuronal							102.0	99.0	100.0					4																	114279596		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114279596C>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.9822C>A	4.37:g.114279596C>A						ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Silent_p.P3241P|ANK2_ENST00000394537.3_Intron	p.P3274P	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	9875	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3241					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.9822C>A	CCDS3702.1																																																																																				0.438	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		6	86	1	0	5.9392e-07	1	6.26024e-07	6	86				
HIVEP3	59269	broad.mit.edu	37	1	41990537	41990537	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr1:41990537C>T	ENST00000372583.1	-	6	6137	c.5252G>A	c.(5251-5253)cGa>cAa	p.R1751Q	HIVEP3_ENST00000372584.1_Missense_Mutation_p.R1751Q|HIVEP3_ENST00000460604.1_Intron|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R1751Q|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R1751Q	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1751					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				ATATTTCCCTCGGCCGCGGCC	0.507																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(5251-5253)cGa>cAa		human immunodeficiency virus type I enhancer binding protein 3							146.0	123.0	130.0					1																	41990537		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:41990537C>T	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.5252G>A	1.37:g.41990537C>T	ENSP00000361664:p.Arg1751Gln					HIVEP3_ENST00000372583.1_Missense_Mutation_p.R1751Q|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R1751Q|HIVEP3_ENST00000460604.1_Intron|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R1751Q	p.R1751Q	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			5	6266	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	1751					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.5252G>A	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	35	5.594431	0.96602	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.09817	2.95;2.94;2.94;2.95	4.85	4.85	0.62838	.	0.000000	0.39759	N	0.001271	T	0.37073	0.0990	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.25257	-1.0137	10	0.72032	D	0.01	-5.7784	17.7486	0.88428	0.0:1.0:0.0:0.0	.	1751;1751	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	Q	1751	ENSP00000361665:R1751Q;ENSP00000361664:R1751Q;ENSP00000247584:R1751Q;ENSP00000410828:R1751Q	ENSP00000247584:R1751Q	R	-	2	0	HIVEP3	41763124	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.609000	0.82925	2.520000	0.84964	0.561000	0.74099	CGA		0.507	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		24	41	0	0	0	1	0	24	41				
OPRL1	4987	broad.mit.edu	37	20	62730046	62730046	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr20:62730046C>T	ENST00000349451.3	+	6	1419	c.1007C>T	c.(1006-1008)gCa>gTa	p.A336V	OPRL1_ENST00000355631.4_Missense_Mutation_p.A336V|OPRL1_ENST00000336866.2_Missense_Mutation_p.A336V	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	336					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TTCTGCTGTGCATCTGCCCTG	0.637																																						ENST00000349451.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19						c.(1006-1008)gCa>gTa		opiate receptor-like 1							93.0	81.0	85.0					20																	62730046		2202	4299	6501	SO:0001583	missense	4987				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity	g.chr20:62730046C>T		CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"""GPCR / Class A : Opioid receptors"""	8155	protein-coding gene	gene with protein product	"""LC132 receptor-like"", ""orphanin FQ receptor"", ""kappa3-related opioid receptor"""	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.1007C>T	20.37:g.62730046C>T	ENSP00000336764:p.Ala336Val					OPRL1_ENST00000336866.2_Missense_Mutation_p.A336V|OPRL1_ENST00000355631.4_Missense_Mutation_p.A336V	p.A336V	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN			6	1419	+	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)		336					Q8TD34|Q8WYH9|Q9H4K4	Missense_Mutation	SNP	ENST00000349451.3	37	c.1007C>T	CCDS13556.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261377	0.39995	.	.	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	T;T;T	0.36878	1.23;1.23;1.23	5.12	5.12	0.69794	.	1.378430	0.04854	N	0.442891	T	0.33962	0.0881	N	0.22421	0.69	0.37050	D	0.897557	B;B	0.18741	0.03;0.018	B;B	0.21917	0.037;0.016	T	0.06481	-1.0824	10	0.19147	T	0.46	.	18.5716	0.91137	0.0:1.0:0.0:0.0	.	331;336	P41146-2;P41146	.;OPRX_HUMAN	V	336	ENSP00000336843:A336V;ENSP00000347848:A336V;ENSP00000336764:A336V	ENSP00000336843:A336V	A	+	2	0	OPRL1	62200490	0.849000	0.29639	0.149000	0.22428	0.191000	0.23601	5.916000	0.69981	2.381000	0.81170	0.550000	0.68814	GCA		0.637	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1	NM_182647		14	30	0	0	0	1	0	14	30				
ATF7IP2	80063	broad.mit.edu	37	16	10575982	10575982	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr16:10575982C>T	ENST00000396560.2	+	12	2152	c.1925C>T	c.(1924-1926)aCt>aTt	p.T642I	ATF7IP2_ENST00000324570.5_3'UTR|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.T642I|ATF7IP2_ENST00000543967.1_Missense_Mutation_p.T186I|ATF7IP2_ENST00000396559.1_3'UTR	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	642	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						ATGGCCTGTACTTTATCTCAG	0.358																																						ENST00000396560.2																			0				large_intestine(3)	3						c.(1924-1926)aCt>aTt		activating transcription factor 7 interacting protein 2							99.0	100.0	100.0					16																	10575982		2197	4300	6497	SO:0001583	missense	80063				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr16:10575982C>T	AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.1925C>T	16.37:g.10575982C>T	ENSP00000379808:p.Thr642Ile					ATF7IP2_ENST00000356427.2_Missense_Mutation_p.T642I|ATF7IP2_ENST00000543967.1_Missense_Mutation_p.T186I|ATF7IP2_ENST00000324570.5_3'UTR|ATF7IP2_ENST00000396559.1_3'UTR	p.T642I	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN			12	2152	+			642			Fibronectin type-III.		B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Missense_Mutation	SNP	ENST00000396560.2	37	c.1925C>T	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.842715	0.91197	.	.	ENSG00000166669	ENST00000543967;ENST00000396560;ENST00000356427	T;T;T	0.32023	1.51;1.47;1.47	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000003	T	0.57021	0.2025	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58092	-0.7697	10	0.87932	D	0	-12.6118	17.4947	0.87714	0.0:1.0:0.0:0.0	.	642	Q5U623	MCAF2_HUMAN	I	186;642;642	ENSP00000446119:T186I;ENSP00000379808:T642I;ENSP00000348799:T642I	ENSP00000348799:T642I	T	+	2	0	ATF7IP2	10483483	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.191000	0.50981	2.736000	0.93811	0.555000	0.69702	ACT		0.358	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997		49	80	0	0	0	1	0	49	80				
IRX6	79190	broad.mit.edu	37	16	55362691	55362691	+	Silent	SNP	G	G	A			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr16:55362691G>A	ENST00000290552.7	+	5	2133	c.801G>A	c.(799-801)gaG>gaA	p.E267E	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	267					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						aggaggaggaggaagctgaag	0.637																																						ENST00000290552.7																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(799-801)gaG>gaA		iroquois homeobox 6							35.0	38.0	37.0					16																	55362691		2197	4298	6495	SO:0001819	synonymous_variant	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55362691G>A	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.801G>A	16.37:g.55362691G>A						RP11-26L20.3_ENST00000558730.2_RNA	p.E267E	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN			5	2133	+			267					B2RN06|Q7Z2K0	Silent	SNP	ENST00000290552.7	37	c.801G>A	CCDS32449.1																																																																																				0.637	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		3	64	0	0	0	1	0	3	64				
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	lincRNA	SNP	C	C	T			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269																																						ENST00000423385.1																			0																																																			0							g.chr1:142803543C>T																													1.37:g.142803543C>T														0	1422	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.269	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			4	80	0	0	0	1	0	4	80				
SPTA1	6708	broad.mit.edu	37	1	158648191	158648191	+	Splice_Site	SNP	C	C	A			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr1:158648191C>A	ENST00000368147.4	-	6	992	c.812G>T	c.(811-813)aGg>aTg	p.R271M		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	271					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGATCCATACCTTTTGAATCG	0.423																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.e6+1		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							125.0	114.0	117.0					1																	158648191		1856	4100	5956	SO:0001630	splice_region_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158648191C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.812+1G>T	1.37:g.158648191C>A						SPTA1_ENST00000368147.3_Splice_Site_p.R271_splice	p.R271_splice	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			6	992	-	all_hematologic(112;0.0378)		271					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Splice_Site	SNP	ENST00000368147.4	37	c.812_splice	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.640599	0.67244	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.55234	0.53;0.53	4.66	4.66	0.58398	.	0.000000	0.34628	N	0.003817	T	0.74711	0.3752	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80484	-0.1362	9	.	.	.	.	16.6455	0.85176	0.0:1.0:0.0:0.0	.	271	P02549	SPTA1_HUMAN	M	271	ENSP00000357130:R271M;ENSP00000357129:R271M	.	R	-	2	0	SPTA1	156914815	1.000000	0.71417	1.000000	0.80357	0.215000	0.24574	6.719000	0.74718	2.572000	0.86782	0.650000	0.86243	AGG		0.423	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	Missense_Mutation	4	72	1	0	2.56e-06	1	2.62737e-06	4	72				
ZNFX1	57169	broad.mit.edu	37	20	47887616	47887616	+	Missense_Mutation	SNP	T	T	G			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr20:47887616T>G	ENST00000396105.1	-	3	979	c.733A>C	c.(733-735)Agc>Cgc	p.S245R	ZNFX1_ENST00000371754.4_Missense_Mutation_p.S245R|ZNFX1_ENST00000371752.1_Missense_Mutation_p.S245R	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	245							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ATGATGTTGCTTATGTGCTCT	0.493																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(733-735)Agc>Cgc		zinc finger, NFX1-type containing 1							147.0	149.0	148.0					20																	47887616		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47887616T>G	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.733A>C	20.37:g.47887616T>G	ENSP00000379412:p.Ser245Arg					ZNFX1_ENST00000371752.1_Missense_Mutation_p.S245R|ZNFX1_ENST00000371754.4_Missense_Mutation_p.S245R	p.S245R	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		3	979	-			245					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.733A>C	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	T	11.12	1.543940	0.27563	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744;ENST00000455070	T;T;T;T;D	0.81739	-0.32;-0.32;-0.32;-0.32;-1.53	5.87	2.45	0.29901	.	0.407546	0.31061	N	0.008323	T	0.61060	0.2317	L	0.34521	1.04	0.27756	N	0.944009	B	0.32302	0.363	B	0.24541	0.054	T	0.46048	-0.9219	10	0.15952	T	0.53	-11.4971	3.6568	0.08223	0.1586:0.3085:0.0:0.5328	.	245	Q9P2E3	ZNFX1_HUMAN	R	245;245;245;245;245;49	ENSP00000360819:S245R;ENSP00000360817:S245R;ENSP00000379412:S245R;ENSP00000360809:S245R;ENSP00000413800:S49R	ENSP00000360809:S245R	S	-	1	0	ZNFX1	47321023	0.185000	0.23213	0.993000	0.49108	0.997000	0.91878	0.556000	0.23438	0.494000	0.27859	0.533000	0.62120	AGC		0.493	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		4	52	0	0	0	1	0	4	52				
C6orf165	154313	broad.mit.edu	37	6	88120351	88120351	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr6:88120351A>G	ENST00000507897.1	+	3	240	c.157A>G	c.(157-159)Acc>Gcc	p.T53A	C6ORF165_ENST00000369562.4_Missense_Mutation_p.T53A			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	53										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		CATGGATAGAACCCTCATGAA	0.353																																						ENST00000507897.1																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(157-159)Acc>Gcc		chromosome 6 open reading frame 165							167.0	161.0	163.0					6																	88120351		2203	4300	6503	SO:0001583	missense	154313							g.chr6:88120351A>G	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.157A>G	6.37:g.88120351A>G	ENSP00000426769:p.Thr53Ala					C6ORF165_ENST00000369562.4_Missense_Mutation_p.T53A	p.T53A			Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	3	240	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	53					A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP	ENST00000507897.1	37	c.157A>G	CCDS34498.1	.	.	.	.	.	.	.	.	.	.	A	10.39	1.337952	0.24253	.	.	ENSG00000213204	ENST00000369562;ENST00000480123	T;T	0.31510	1.49;1.5	5.73	1.97	0.26223	.	0.392990	0.28952	N	0.013612	T	0.07999	0.0200	L	0.33753	1.03	0.37944	D	0.932425	B;B	0.14438	0.01;0.005	B;B	0.12837	0.008;0.004	T	0.18053	-1.0349	10	0.14656	T	0.56	.	9.9455	0.41607	0.8061:0.0:0.1939:0.0	.	53;53	Q8IYR0;E1P509	CF165_HUMAN;.	A	53	ENSP00000358575:T53A;ENSP00000422494:T53A	ENSP00000358575:T53A	T	+	1	0	C6orf165	88177070	0.775000	0.28604	0.778000	0.31720	0.926000	0.56050	2.276000	0.43408	0.155000	0.19261	-0.256000	0.11100	ACC		0.353	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		3	44	0	0	0	1	0	3	44				
SLC12A5	57468	broad.mit.edu	37	20	44670163	44670163	+	Silent	SNP	C	C	A			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr20:44670163C>A	ENST00000454036.2	+	8	1168	c.1119C>A	c.(1117-1119)gcC>gcA	p.A373A	SLC12A5_ENST00000243964.3_Silent_p.A350A	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	373					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTGGTGCTGCCAGTGGCCTCA	0.567																																						ENST00000454036.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(1117-1119)gcC>gcA		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						59.0	56.0	57.0					20																	44670163		2203	4300	6503	SO:0001819	synonymous_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44670163C>A	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1119C>A	20.37:g.44670163C>A						SLC12A5_ENST00000243964.3_Silent_p.A350A|SLC12A5_ENST00000539566.1_Intron	p.A373A	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN			8	1195	+		Myeloproliferative disorder(115;0.0122)	373					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	ENST00000454036.2	37	c.1119C>A	CCDS46610.1																																																																																				0.567	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			20	41	1	0	1.50039e-11	1	1.62542e-11	20	41				
GOLGA8EP	390535	broad.mit.edu	37	15	23443503	23443503	+	RNA	SNP	C	C	T			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr15:23443503C>T	ENST00000526079.1	+	0	1578				AC100757.1_ENST00000458911.1_RNA|RN7SL106P_ENST00000488468.2_RNA	NR_027407.1|NR_033350.1				golgin A8 family, member E, pseudogene																		CCCTTAGGAGCGCCTGGAAGC	0.632																																						ENST00000526079.1																			0																				23.0	49.0	42.0					15																	23443503		1469	3893	5362			0							g.chr15:23443503C>T			15q11.2	2014-03-21	2012-10-05	2012-10-05	ENSG00000175676	ENSG00000175676			32377	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8E"", ""golgin A8 family, member E"""	GOLGA8E		12477932	Standard	NR_033350		Approved		uc001yvu.3		OTTHUMG00000167132		15.37:g.23443503C>T								NR_027407.1|NR_033350.1						0	1578	+									RNA	SNP	ENST00000526079.1	37																																																																																						0.632	GOLGA8EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393312.1	NR_033350.1		13	3	0	0	0	1	0	13	3				
UBC	7316	broad.mit.edu	37	12	125397652	125397652	+	Silent	SNP	T	T	C	rs533073686	byFrequency	TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr12:125397652T>C	ENST00000536769.1	-	1	2242	c.666A>G	c.(664-666)gtA>gtG	p.V222V	UBC_ENST00000546120.1_Silent_p.V146V|UBC_ENST00000339647.5_Silent_p.V222V|UBC_ENST00000538617.1_Intron|UBC_ENST00000536661.1_5'Flank|MIR5188_ENST00000583467.1_RNA			P0CG48	UBC_HUMAN	ubiquitin C	222	Ubiquitin-like 3. {ECO:0000255|PROSITE- ProRule:PRU00214}.				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 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)|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)|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)|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)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TGAGACGGAGTACCAGGTGCA	0.512													-|||	5	0.000998403	0.0	0.0	5008	,	,		27834	0.004		0.0	False		,,,				2504	0.001					ENST00000536769.1																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(664-666)gtA>gtG		ubiquitin C							228.0	202.0	211.0					12																	125397652		2203	4299	6502	SO:0001819	synonymous_variant	7316				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|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397652T>C		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.666A>G	12.37:g.125397652T>C						UBC_ENST00000339647.5_Silent_p.V222V|UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Silent_p.V146V	p.V222V			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	2242	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		222			Ubiquitin-like 3.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000536769.1	37	c.666A>G	CCDS9260.1																																																																																				0.512	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		4	154	0	0	0	1	0	4	154				
CCDC171	203238	broad.mit.edu	37	9	15678826	15678826	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr9:15678826A>G	ENST00000380701.3	+	10	1475	c.1147A>G	c.(1147-1149)Ata>Gta	p.I383V	CCDC171_ENST00000297641.3_Missense_Mutation_p.I383V	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	383																	GAAAGTAATTATAGACCTTTC	0.313																																						ENST00000380701.3																			0											c.(1147-1149)Ata>Gta		coiled-coil domain containing 171							47.0	49.0	48.0					9																	15678826		2202	4292	6494	SO:0001583	missense	203238							g.chr9:15678826A>G	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.1147A>G	9.37:g.15678826A>G	ENSP00000370077:p.Ile383Val					CCDC171_ENST00000297641.3_Missense_Mutation_p.I383V	p.I383V	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN			10	1475	+			383					B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	37	c.1147A>G	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	A	6.884	0.532588	0.13127	.	.	ENSG00000164989	ENST00000297641;ENST00000380701	T;T	0.13778	2.56;2.56	5.06	3.9	0.45041	.	0.896729	0.09937	N	0.736491	T	0.09468	0.0233	N	0.14661	0.345	0.80722	D	1	B;B;B	0.12630	0.006;0.006;0.003	B;B;B	0.16289	0.015;0.009;0.01	T	0.13899	-1.0492	10	0.29301	T	0.29	-0.4233	10.9674	0.47421	0.8431:0.1568:0.0:0.0	.	383;383;383	B7ZM22;Q6TFL3-3;Q6TFL3	.;.;CI093_HUMAN	V	383	ENSP00000297641:I383V;ENSP00000370077:I383V	ENSP00000297641:I383V	I	+	1	0	C9orf93	15668826	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	2.602000	0.46257	0.847000	0.35167	0.454000	0.30748	ATA		0.313	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		6	37	0	0	0	1	0	6	37				
MAP3K14-AS1	100133991	broad.mit.edu	37	17	43345071	43345071	+	RNA	SNP	C	C	T			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr17:43345071C>T	ENST00000585780.1	+	0	2120				MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14_ENST00000344686.2_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA					MAP3K14 antisense RNA 1																		CTTGATTTGGCGGTGGATGTC	0.572																																						ENST00000344686.2																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27								mitogen-activated protein kinase kinase kinase 14							121.0	129.0	126.0					17																	43345071		1937	4142	6079			9020				cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr17:43345071C>T	AK311429, BC031942		17q21.31	2014-06-16			ENSG00000267278	ENSG00000267278		"""Long non-coding RNAs"""	44359	non-coding RNA	RNA, long non-coding							Standard	NR_024435		Approved		uc002iit.4		OTTHUMG00000180362		17.37:g.43345071C>T						MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000585780.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA				Q99558	M3K14_HUMAN			0	2133	-									RNA	SNP	ENST00000585780.1	37																																																																																						0.572	MAP3K14-AS1-008	KNOWN	basic	antisense	antisense	OTTHUMT00000450941.1	NR_024434		6	99	0	0	0	1	0	6	99				
SBNO1	55206	broad.mit.edu	37	12	123780522	123780522	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr12:123780522G>A	ENST00000602398.1	-	32	4242	c.4115C>T	c.(4114-4116)gCg>gTg	p.A1372V	SBNO1_ENST00000420886.2_Missense_Mutation_p.A1372V|SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1372					regulation of transcription, DNA-templated (GO:0006355)			p.A1371V(2)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CTGTTGGACCGCAAGCTGTTG	0.433																																						ENST00000420886.2																			2	Substitution - Missense(2)	p.A1371V(2)	lung(1)|prostate(1)	NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(4114-4116)gCg>gTg		strawberry notch homolog 1 (Drosophila)							340.0	303.0	316.0					12																	123780522		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123780522G>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.4115C>T	12.37:g.123780522G>A	ENSP00000473665:p.Ala1372Val					SBNO1_ENST00000602398.1_Missense_Mutation_p.A1372V|SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V	p.A1372V	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	31	4114	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1372					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.4115C>T	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622923	0.87460	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.32515	1.45;1.45	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.959;0.981	T	0.12785	-1.0534	10	0.33940	T	0.23	-19.465	20.5792	0.99380	0.0:0.0:1.0:0.0	.	1372;1371	A3KN83;A3KN83-2	SBNO1_HUMAN;.	V	1372;1371	ENSP00000387361:A1372V;ENSP00000267176:A1371V	ENSP00000267176:A1371V	A	-	2	0	SBNO1	122346475	1.000000	0.71417	0.790000	0.31976	0.976000	0.68499	9.431000	0.97494	2.873000	0.98535	0.561000	0.74099	GCG		0.433	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		4	186	0	0	0	1	0	4	186				
TMIGD2	126259	broad.mit.edu	37	19	4292688	4292688	+	Missense_Mutation	SNP	C	C	T	rs538543729		TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr19:4292688C>T	ENST00000301272.2	-	5	802	c.757G>A	c.(757-759)Ggc>Agc	p.G253S	TMIGD2_ENST00000595645.1_Missense_Mutation_p.G249S|TMIGD2_ENST00000600114.1_Missense_Mutation_p.G133S|TMIGD2_ENST00000600349.1_Missense_Mutation_p.G81S	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	253	Pro-rich.				positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGGGGTggccgggcctgggg	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		10251	0.001		0.0	False		,,,				2504	0.0					ENST00000301272.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19						c.(757-759)Ggc>Agc		transmembrane and immunoglobulin domain containing 2							37.0	46.0	43.0					19																	4292688		2202	4295	6497	SO:0001583	missense	126259					integral to membrane		g.chr19:4292688C>T	BC015655	CCDS12126.1, CCDS59334.1	19p13.3	2014-02-12	2006-07-05					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28324	protein-coding gene	gene with protein product		614715					Standard	NM_144615		Approved	MGC23244	uc002lzx.2	Q96BF3		ENST00000301272.2:c.757G>A	19.37:g.4292688C>T	ENSP00000301272:p.Gly253Ser					TMIGD2_ENST00000600114.1_Missense_Mutation_p.G133S|TMIGD2_ENST00000595645.1_Missense_Mutation_p.G249S|TMIGD2_ENST00000600349.1_Missense_Mutation_p.G81S	p.G253S	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)	5	802	-			253			Pro-rich.		Q6UW59	Missense_Mutation	SNP	ENST00000301272.2	37	c.757G>A	CCDS12126.1	.	.	.	.	.	.	.	.	.	.	C	4.067	0.010185	0.07912	.	.	ENSG00000167664	ENST00000301272	T	0.28255	1.62	2.64	-3.81	0.04294	.	.	.	.	.	T	0.10680	0.0261	N	0.08118	0	0.09310	N	1	B;B	0.20780	0.048;0.028	B;B	0.16722	0.016;0.007	T	0.35773	-0.9775	9	0.09843	T	0.71	.	4.6444	0.12565	0.0:0.5059:0.2093:0.2847	.	249;253	Q96BF3-2;Q96BF3	.;TMIG2_HUMAN	S	253	ENSP00000301272:G253S	ENSP00000301272:G253S	G	-	1	0	TMIGD2	4243688	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.981000	0.03766	-0.508000	0.06540	-0.377000	0.06932	GGC		0.667	TMIGD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458088.1	NM_144615		13	55	0	0	0	1	0	13	55				
RALGPS1	9649	broad.mit.edu	37	9	129977092	129977092	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr9:129977092G>T	ENST00000259351.5	+	18	1882	c.1615G>T	c.(1615-1617)Gat>Tat	p.D539Y	RALGPS1_ENST00000373434.1_Missense_Mutation_p.D489Y|RP13-225O21.2_ENST00000453199.1_RNA|RALGPS1_ENST00000424082.2_Missense_Mutation_p.D497Y	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	539	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.|Required for stimulation of nucleotide exchange by RALA.				intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CAAGCATTTGGATGATGCATG	0.438											OREG0019504	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000259351.5																			0				kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(1615-1617)Gat>Tat		Ral GEF with PH domain and SH3 binding motif 1							172.0	154.0	160.0					9																	129977092		2203	4300	6503	SO:0001583	missense	9649				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr9:129977092G>T	AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"""Pleckstrin homology (PH) domain containing"""	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.1615G>T	9.37:g.129977092G>T	ENSP00000259351:p.Asp539Tyr		OREG0019504	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1576	RP13-225O21.2_ENST00000453199.1_RNA|RALGPS1_ENST00000424082.2_Missense_Mutation_p.D497Y|RALGPS1_ENST00000373434.1_Missense_Mutation_p.D489Y	p.D539Y	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN			18	1882	+			539			PH.|Required for stimulation of nucleotide exchange by RALA.		B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Missense_Mutation	SNP	ENST00000259351.5	37	c.1615G>T	CCDS35143.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.2|28.2	4.900508|4.900508	0.92035|0.92035	.|.	.|.	ENSG00000136828|ENSG00000136828	ENST00000259351;ENST00000424082;ENST00000373434|ENST00000438723	T;T;T|.	0.75477|.	-0.94;-0.94;-0.94|.	5.7|5.7	5.7|5.7	0.88788|0.88788	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.096907|.	0.64402|.	D|.	0.000002|.	T|T	0.56790|0.56790	0.2009|0.2009	N|N	0.22421|0.22421	0.69|0.69	0.51482|0.51482	D|D	0.999921|0.999921	D;D;D|.	0.71674|.	0.998;0.997;0.996|.	P;P;P|.	0.60117|.	0.869;0.853;0.845|.	T|T	0.49844|0.49844	-0.8896|-0.8896	10|5	0.66056|.	D|.	0.02|.	.|.	19.8471|19.8471	0.96713|0.96713	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	497;489;539|.	E9PBQ5;Q5JS13-2;Q5JS13|.	.;.;RGPS1_HUMAN|.	Y|C	539;497;489|134	ENSP00000259351:D539Y;ENSP00000415630:D497Y;ENSP00000362533:D489Y|.	ENSP00000259351:D539Y|.	D|W	+|+	1|3	0|0	RALGPS1|RALGPS1	129016913|129016913	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.119000|7.119000	0.77145|0.77145	2.688000|2.688000	0.91661|0.91661	0.655000|0.655000	0.94253|0.94253	GAT|TGG		0.438	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1	NM_014636		23	54	1	0	3.73808e-20	1	4.2878e-20	23	54				
CHRNA10	57053	broad.mit.edu	37	11	3687407	3687407	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr11:3687407C>T	ENST00000250699.2	-	5	1354	c.1283G>A	c.(1282-1284)cGc>cAc	p.R428H	Y_RNA_ENST00000364409.1_RNA|CHRNA10_ENST00000534359.1_3'UTR|Y_RNA_ENST00000363331.1_RNA|CHRNA10_ENST00000493827.2_5'Flank	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	428					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell proliferation (GO:0042127)|synaptic transmission, cholinergic (GO:0007271)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perikaryon (GO:0043204)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Galantamine(DB00674)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Succinylcholine(DB00202)|Trimethaphan(DB01116)	CAGGAAGAAGCGGTCCATCAC	0.622																																					Melanoma(153;17 1869 2949 7120 36888)	ENST00000250699.2																			0				breast(1)|endometrium(2)|lung(3)|ovary(1)	7						c.(1282-1284)cGc>cAc		cholinergic receptor, nicotinic, alpha 10 (neuronal)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)						62.0	62.0	62.0					11																	3687407		2201	4298	6499	SO:0001583	missense	57053				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding	g.chr11:3687407C>T	AF199235	CCDS7745.1	11p15.5	2012-02-11	2012-02-07		ENSG00000129749	ENSG00000129749		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	13800	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 10 (neuronal)"""	606372	"""cholinergic receptor, nicotinic, alpha polypeptide 10"""				Standard	NM_020402		Approved		uc001lyf.3	Q9GZZ6	OTTHUMG00000011844	ENST00000250699.2:c.1283G>A	11.37:g.3687407C>T	ENSP00000250699:p.Arg428His					CHRNA10_ENST00000534359.1_3'UTR	p.R428H	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	5	1354	-		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)	428						Missense_Mutation	SNP	ENST00000250699.2	37	c.1283G>A	CCDS7745.1	.	.	.	.	.	.	.	.	.	.	C	32	5.149241	0.94645	.	.	ENSG00000129749	ENST00000250699	T	0.76578	-1.03	5.76	5.76	0.90799	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.64402	D	0.000014	D	0.89332	0.6685	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89968	0.4091	10	0.66056	D	0.02	.	18.5213	0.90954	0.0:1.0:0.0:0.0	.	428	Q9GZZ6	ACH10_HUMAN	H	428	ENSP00000250699:R428H	ENSP00000250699:R428H	R	-	2	0	CHRNA10	3643983	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.715000	0.92844	0.561000	0.74099	CGC		0.622	CHRNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032763.2			6	37	0	0	0	1	0	6	37				
GRIA4	2893	broad.mit.edu	37	11	105623908	105623908	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr11:105623908A>G	ENST00000530497.1	+	3	449	c.449A>G	c.(448-450)gAa>gGa	p.E150G	GRIA4_ENST00000525187.1_Missense_Mutation_p.E150G|GRIA4_ENST00000393127.2_Missense_Mutation_p.E150G|GRIA4_ENST00000428631.2_Missense_Mutation_p.E150G|GRIA4_ENST00000282499.5_Missense_Mutation_p.E150G|GRIA4_ENST00000393125.2_Missense_Mutation_p.E150G			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	150					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		GATCACTACGAATGGAACTGT	0.438																																						ENST00000393127.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82						c.(448-450)gAa>gGa		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						154.0	133.0	140.0					11																	105623908		2202	4299	6501	SO:0001583	missense	0				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105623908A>G	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.449A>G	11.37:g.105623908A>G	ENSP00000435775:p.Glu150Gly					GRIA4_ENST00000393125.2_Missense_Mutation_p.E150G|GRIA4_ENST00000525187.1_Missense_Mutation_p.E150G|GRIA4_ENST00000530497.1_Missense_Mutation_p.E150G|GRIA4_ENST00000282499.5_Missense_Mutation_p.E150G|GRIA4_ENST00000428631.2_Missense_Mutation_p.E150G	p.E150G	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	4	895	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	150					Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.449A>G	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	A	5.755	0.323737	0.10900	.	.	ENSG00000152578	ENST00000393125;ENST00000282499;ENST00000393127;ENST00000428631;ENST00000531011;ENST00000530497;ENST00000525187	T;T;T;T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29	5.51	5.51	0.81932	Extracellular ligand-binding receptor (1);	0.085998	0.49305	D	0.000157	T	0.52322	0.1727	N	0.00926	-1.1	0.41109	D	0.985724	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.53968	-0.8363	10	0.22706	T	0.39	.	10.047	0.42192	0.9252:0.0:0.0748:0.0	.	150;150;180;150	P48058;G3V164;Q59GL7;Q86XE8	GRIA4_HUMAN;.;.;.	G	150	ENSP00000376833:E150G;ENSP00000282499:E150G;ENSP00000376835:E150G;ENSP00000415551:E150G;ENSP00000432443:E150G;ENSP00000435775:E150G;ENSP00000432180:E150G	ENSP00000282499:E150G	E	+	2	0	GRIA4	105129118	1.000000	0.71417	0.998000	0.56505	0.885000	0.51271	7.574000	0.82434	2.103000	0.63969	0.533000	0.62120	GAA		0.438	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			9	76	0	0	0	1	0	9	76				
WDR33	55339	broad.mit.edu	37	2	128480231	128480231	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr2:128480231C>A	ENST00000322313.4	-	14	1610	c.1452G>T	c.(1450-1452)aaG>aaT	p.K484N		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	484					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TTTTCTGATCCTTTTGCATCA	0.408																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(1450-1452)aaG>aaT		WD repeat domain 33							226.0	208.0	215.0					2																	128480231		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128480231C>A		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.1452G>T	2.37:g.128480231C>A	ENSP00000325377:p.Lys484Asn						p.K484N	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	14	1610	-	Colorectal(110;0.1)		484					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.1452G>T	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.605356	0.46423	.	.	ENSG00000136709	ENST00000322313	D	0.89810	-2.57	5.52	3.74	0.42951	.	0.107469	0.64402	D	0.000004	T	0.78240	0.4252	N	0.14661	0.345	0.80722	D	1	P	0.37781	0.608	B	0.37943	0.261	T	0.72443	-0.4292	10	0.29301	T	0.29	-14.5444	9.2666	0.37645	0.0:0.7812:0.0:0.2188	.	484	Q9C0J8	WDR33_HUMAN	N	484	ENSP00000325377:K484N	ENSP00000325377:K484N	K	-	3	2	WDR33	128196701	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.038000	0.30254	0.701000	0.31803	0.650000	0.86243	AAG		0.408	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		4	62	1	0	0.00909568	1	0.00909568	4	62				
FAM47B	170062	broad.mit.edu	37	X	34961838	34961838	+	Missense_Mutation	SNP	C	C	T	rs370213556		TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chrX:34961838C>T	ENST00000329357.5	+	1	926	c.890C>T	c.(889-891)cCg>cTg	p.P297L		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	297	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CATCTCCACCCGGAGCCTCCT	0.632													C|||	1	0.000264901	0.0	0.0	3775	,	,		10814	0.0		0.0	False		,,,				2504	0.001					ENST00000329357.5																			0				breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(889-891)cCg>cTg		family with sequence similarity 47, member B		C	LEU/PRO	1,3832		0,1,1630,571	55.0	54.0	54.0		890	-0.5	0.0	X		54	0,6728		0,0,2428,1872	no	missense	FAM47B	NM_152631.2	98	0,1,4058,2443	TT,TC,CC,C		0.0,0.0261,0.0095	benign	297/646	34961838	1,10560	2202	4300	6502	SO:0001583	missense	170062							g.chrX:34961838C>T	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.890C>T	X.37:g.34961838C>T	ENSP00000328307:p.Pro297Leu						p.P297L	NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN			1	926	+			297			Pro-rich.		Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.890C>T	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	C	4.228	0.041221	0.08196	2.61E-4	0.0	ENSG00000189132	ENST00000329357	T	0.22743	1.94	0.235	-0.47	0.12131	.	.	.	.	.	T	0.10680	0.0261	N	0.16833	0.445	0.31669	N	0.644547	B	0.19583	0.037	B	0.11329	0.006	T	0.17349	-1.0372	9	0.45353	T	0.12	.	4.5926	0.12315	0.0:0.693:0.0:0.307	.	297	Q8NA70	FA47B_HUMAN	L	297	ENSP00000328307:P297L	ENSP00000328307:P297L	P	+	2	0	FAM47B	34871759	0.213000	0.23551	0.014000	0.15608	0.014000	0.08584	-1.801000	0.01743	-0.727000	0.04888	-0.724000	0.03597	CCG		0.632	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		10	37	0	0	0	1	0	10	37				
ZNF804B	219578	broad.mit.edu	37	7	88964899	88964899	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr7:88964899G>A	ENST00000333190.4	+	4	3212	c.2603G>A	c.(2602-2604)aGc>aAc	p.S868N		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	868							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTGAATAAAAGCAAGAGAAAT	0.428										HNSCC(36;0.09)																												ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(2602-2604)aGc>aAc		zinc finger protein 804B							59.0	61.0	60.0					7																	88964899		2203	4299	6502	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88964899G>A	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2603G>A	7.37:g.88964899G>A	ENSP00000329638:p.Ser868Asn	HNSCC(36;0.09)					p.S868N	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	3212	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		868					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.2603G>A	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.433805	0.00182	.	.	ENSG00000182348	ENST00000333190	T	0.04970	3.52	5.19	-0.156	0.13391	.	0.986976	0.08296	N	0.967700	T	0.03011	0.0089	N	0.12746	0.255	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48399	-0.9039	10	0.19590	T	0.45	0.3201	2.1747	0.03859	0.4814:0.1313:0.2534:0.1339	.	868	A4D1E1	Z804B_HUMAN	N	868	ENSP00000329638:S868N	ENSP00000329638:S868N	S	+	2	0	ZNF804B	88802835	0.179000	0.23135	0.001000	0.08648	0.007000	0.05969	0.442000	0.21628	-0.210000	0.10140	-0.169000	0.13324	AGC		0.428	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		15	35	0	0	0	1	0	15	35				
ZNF770	54989	broad.mit.edu	37	15	35273990	35273990	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr15:35273990G>A	ENST00000356321.4	-	3	1990	c.1646C>T	c.(1645-1647)tCa>tTa	p.S549L		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	549					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		ATTATTACCTGAATGATTAGA	0.368																																						ENST00000356321.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29						c.(1645-1647)tCa>tTa		zinc finger protein 770							111.0	114.0	113.0					15																	35273990		2201	4298	6499	SO:0001583	missense	54989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:35273990G>A	BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"""Zinc fingers, C2H2-type"""	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.1646C>T	15.37:g.35273990G>A	ENSP00000348673:p.Ser549Leu						p.S549L	NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)	3	1990	-		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)	549					Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	ENST00000356321.4	37	c.1646C>T	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	G	0.078	-1.188866	0.01607	.	.	ENSG00000198146	ENST00000356321	T	0.08546	3.08	5.1	1.87	0.25490	.	0.484707	0.19415	U	0.114823	T	0.04092	0.0114	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37454	-0.9705	10	0.48119	T	0.1	-0.2346	7.251	0.26150	0.0877:0.0:0.3206:0.5917	.	549	Q6IQ21	ZN770_HUMAN	L	549	ENSP00000348673:S549L	ENSP00000348673:S549L	S	-	2	0	ZNF770	33061282	0.147000	0.22687	0.003000	0.11579	0.012000	0.07955	0.287000	0.18920	0.688000	0.31529	0.467000	0.42956	TCA		0.368	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106		8	96	0	0	0	1	0	8	96				
SLC38A7	55238	broad.mit.edu	37	16	58713793	58713793	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr16:58713793C>T	ENST00000570101.1	-	2	1121	c.238G>A	c.(238-240)Ggg>Agg	p.G80R	SLC38A7_ENST00000564010.1_Intron|SLC38A7_ENST00000566953.1_Intron|SLC38A7_ENST00000219320.4_Missense_Mutation_p.G80R|SLC38A7_ENST00000564100.1_Missense_Mutation_p.G80R|SLC38A7_ENST00000564391.1_Missense_Mutation_p.G80R			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	80					sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	L-alanine transmembrane transporter activity (GO:0015180)|L-amino acid transmembrane transporter activity (GO:0015179)|L-asparagine transmembrane transporter activity (GO:0015182)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|L-glutamine transmembrane transporter activity (GO:0015186)|L-histidine transmembrane transporter activity (GO:0005290)|L-leucine transmembrane transporter activity (GO:0015190)|L-methionine transmembrane transporter activity (GO:0015191)|L-serine transmembrane transporter activity (GO:0015194)			endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						GCCACGCCCCCCGCAGTGCTG	0.622																																						ENST00000570101.1																			0				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(238-240)Ggg>Agg		solute carrier family 38, member 7							44.0	42.0	43.0					16																	58713793		2198	4300	6498	SO:0001583	missense	55238				amino acid transport|sodium ion transport	integral to membrane		g.chr16:58713793C>T	BC001961	CCDS10800.1	16q21	2013-05-22			ENSG00000103042	ENSG00000103042		"""Solute carriers"""	25582	protein-coding gene	gene with protein product		614236					Standard	XM_006721229		Approved	FLJ10815	uc002eod.1	Q9NVC3	OTTHUMG00000133491	ENST00000570101.1:c.238G>A	16.37:g.58713793C>T	ENSP00000454646:p.Gly80Arg					SLC38A7_ENST00000564010.1_Intron|SLC38A7_ENST00000564100.1_Missense_Mutation_p.G80R|SLC38A7_ENST00000219320.4_Missense_Mutation_p.G80R|SLC38A7_ENST00000564391.1_Missense_Mutation_p.G80R|SLC38A7_ENST00000566953.1_Intron	p.G80R			Q9NVC3	S38A7_HUMAN			2	1121	-			80					Q53GJ9|Q9H9I5	Missense_Mutation	SNP	ENST00000570101.1	37	c.238G>A	CCDS10800.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905326	0.72868	.	.	ENSG00000103042	ENST00000219320	T	0.52295	0.67	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.72953	0.3525	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.986	T	0.73439	-0.3982	9	.	.	.	.	19.2845	0.94065	0.0:1.0:0.0:0.0	.	80;80	Q9NVC3;Q9NVC3-2	S38A7_HUMAN;.	R	80	ENSP00000219320:G80R	.	G	-	1	0	SLC38A7	57271294	1.000000	0.71417	0.972000	0.41901	0.002000	0.02628	7.332000	0.79203	2.813000	0.96785	0.655000	0.94253	GGG		0.622	SLC38A7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422206.2	NM_018231		8	10	0	0	0	1	0	8	10				
FAM83D	81610	broad.mit.edu	37	20	37580234	37580234	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr20:37580234G>T	ENST00000217429.4	+	4	960	c.919G>T	c.(919-921)Ggc>Tgc	p.G307C		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	277					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				AATTCTGTCTGGCCAAGTGGT	0.438																																						ENST00000217429.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28						c.(919-921)Ggc>Tgc		family with sequence similarity 83, member D							119.0	115.0	116.0					20																	37580234		1951	4134	6085	SO:0001583	missense	81610				cell division|mitosis	cytoplasm|spindle pole		g.chr20:37580234G>T	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 129"""	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.919G>T	20.37:g.37580234G>T	ENSP00000217429:p.Gly307Cys						p.G307C	NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN			4	960	+		Myeloproliferative disorder(115;0.00878)	277					B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Missense_Mutation	SNP	ENST00000217429.4	37	c.919G>T	CCDS42872.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784775	0.90282	.	.	ENSG00000101447	ENST00000217429;ENST00000424027	T	0.52057	0.68	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.76435	0.3987	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80578	-0.1320	10	0.87932	D	0	.	19.6732	0.95918	0.0:0.0:1.0:0.0	.	277	Q9H4H8	FA83D_HUMAN	C	307;261	ENSP00000217429:G307C	ENSP00000217429:G307C	G	+	1	0	FAM83D	37013648	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.344000	0.97050	2.745000	0.94114	0.655000	0.94253	GGC		0.438	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			33	34	1	0	9.04072e-19	1	1.00739e-18	33	34				
PCDHGB7	56099	broad.mit.edu	37	5	140798188	140798188	+	Silent	SNP	C	C	T			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr5:140798188C>T	ENST00000398594.2	+	1	762	c.762C>T	c.(760-762)gaC>gaT	p.D254D	PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	254	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGGGAAGACGTGCCTCCAG	0.537																																						ENST00000398594.2																			0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56						c.(760-762)gaC>gaT									74.0	77.0	76.0					5																	140798188		2047	4195	6242	SO:0001819	synonymous_variant	0							g.chr5:140798188C>T	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.762C>T	5.37:g.140798188C>T						PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron	p.D254D	NM_018927.3	NP_061750.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	762	+								Q9UN63	Silent	SNP	ENST00000398594.2	37	c.762C>T	CCDS47293.1																																																																																				0.537	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		4	39	0	0	0	1	0	4	39				
RPL11	6135	broad.mit.edu	37	1	24020353	24020353	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr1:24020353T>C	ENST00000374550.3	+	3	259	c.214T>C	c.(214-216)Tgc>Cgc	p.C72R	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	72					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein localization to nucleus (GO:0034504)|protein targeting (GO:0006605)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		TGCTGTCCACTGCACAGTTCG	0.478																																						ENST00000374550.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6						c.(214-216)Tgc>Cgc		ribosomal protein L11							112.0	96.0	102.0					1																	24020353		2203	4300	6503	SO:0001583	missense	6135				endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome	g.chr1:24020353T>C	L05092	CCDS238.1	1p36.1-p35	2011-04-06			ENSG00000142676	ENSG00000142676		"""L ribosomal proteins"""	10301	protein-coding gene	gene with protein product		604175				9582194, 10343117	Standard	NM_000975		Approved	L11	uc001bhk.3	P62913	OTTHUMG00000002926	ENST00000374550.3:c.214T>C	1.37:g.24020353T>C	ENSP00000363676:p.Cys72Arg					RPL11_ENST00000482370.1_3'UTR	p.C72R	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)	3	259	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	72					P25121|P39026|Q8TDH2|Q9Y674	Missense_Mutation	SNP	ENST00000374550.3	37	c.214T>C	CCDS238.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.884457	0.91814	.	.	ENSG00000142676	ENST00000374550;ENST00000443624;ENST00000458455	T;T;T	0.76709	-1.04;-1.04;-1.04	5.29	5.29	0.74685	Ribosomal protein L5 domain (2);	0.000000	0.85682	D	0.000000	D	0.90195	0.6935	H	0.94582	3.555	0.80722	D	1	P;P	0.45672	0.467;0.864	P;P	0.58577	0.754;0.841	D	0.92711	0.6183	10	0.87932	D	0	-5.9348	15.207	0.73186	0.0:0.0:0.0:1.0	.	71;72	P62913-2;P62913	.;RL11_HUMAN	R	72;70;70	ENSP00000363676:C72R;ENSP00000390839:C70R;ENSP00000398888:C70R	ENSP00000363676:C72R	C	+	1	0	RPL11	23892940	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.897000	0.87356	2.006000	0.58801	0.533000	0.62120	TGC		0.478	RPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008168.1	NM_000975		15	19	0	0	0	1	0	15	19				
CXorf38	159013	broad.mit.edu	37	X	40506743	40506743	+	Silent	SNP	G	G	A			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chrX:40506743G>A	ENST00000327877.5	-	1	56	c.30C>T	c.(28-30)ctC>ctT	p.L10L	CXorf38_ENST00000440784.2_Silent_p.L10L|CXorf38_ENST00000378421.1_5'UTR|CXorf38_ENST00000378426.1_5'UTR|CXorf38_ENST00000378418.2_Silent_p.L10L	NM_144970.2	NP_659407.1	Q8TB03	CX038_HUMAN	chromosome X open reading frame 38	10										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						CGGCGCAGTTGAGGCGCGCCG	0.672																																						ENST00000327877.5																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						c.(28-30)ctC>ctT		chromosome X open reading frame 38							23.0	22.0	22.0					X																	40506743		2189	4271	6460	SO:0001819	synonymous_variant	159013							g.chrX:40506743G>A	AL832829	CCDS14253.1	Xp11	2008-02-05			ENSG00000185753	ENSG00000185753			28589	protein-coding gene	gene with protein product							Standard	NM_144970		Approved	MGC39350	uc004dew.3	Q8TB03	OTTHUMG00000024104	ENST00000327877.5:c.30C>T	X.37:g.40506743G>A						CXorf38_ENST00000378421.1_5'UTR|CXorf38_ENST00000440784.2_Silent_p.L10L|CXorf38_ENST00000378418.2_Silent_p.L10L|CXorf38_ENST00000378426.1_5'UTR	p.L10L	NM_144970.2	NP_659407.1	Q8TB03	CX038_HUMAN			1	56	-			10					B3KW28|D3DWB5|Q5JPF5|Q8N941	Silent	SNP	ENST00000327877.5	37	c.30C>T	CCDS14253.1																																																																																				0.672	CXorf38-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060685.3	NM_144970		13	7	0	0	0	1	0	13	7				
PROP1	5626	broad.mit.edu	37	5	177419968	177419968	+	Silent	SNP	G	G	A	rs200977367		TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr5:177419968G>A	ENST00000308304.2	-	3	731	c.423C>T	c.(421-423)gcC>gcT	p.A141A		NM_006261.4	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	141					blood vessel development (GO:0001568)|canonical Wnt signaling pathway (GO:0060070)|cell migration (GO:0016477)|central nervous system development (GO:0007417)|dorsal/ventral pattern formation (GO:0009953)|hypophysis morphogenesis (GO:0048850)|hypothalamus cell differentiation (GO:0021979)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatotropin secreting cell differentiation (GO:0060126)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGAAAAGGCGGCAGGAGACA	0.587																																						ENST00000308304.2																			0				endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13						c.(421-423)gcC>gcT		PROP paired-like homeobox 1							154.0	140.0	145.0					5																	177419968		2203	4300	6503	SO:0001819	synonymous_variant	5626				central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:177419968G>A	AF076215	CCDS4430.1	5q35.3	2011-06-20	2007-07-12		ENSG00000175325	ENSG00000175325		"""Homeoboxes / PRD class"""	9455	protein-coding gene	gene with protein product		601538	"""prophet of Pit1, paired-like homeodomain transcription factor"""			9462743	Standard	NM_006261		Approved		uc003mif.1	O75360	OTTHUMG00000130887	ENST00000308304.2:c.423C>T	5.37:g.177419968G>A							p.A141A	NM_006261.4	NP_006252.3	O75360	PROP1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	731	-	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	141						Silent	SNP	ENST00000308304.2	37	c.423C>T	CCDS4430.1																																																																																				0.587	PROP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253472.1	NM_006261		3	14	0	0	0	1	0	3	14				
CPT1B	1375	broad.mit.edu	37	22	51009403	51009403	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr22:51009403T>C	ENST00000360719.2	-	16	2082	c.1945A>G	c.(1945-1947)Acc>Gcc	p.T649A	CPT1B_ENST00000395650.2_Missense_Mutation_p.T649A|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000440709.1_Missense_Mutation_p.T568A|CPT1B_ENST00000457250.1_Missense_Mutation_p.T615A|CPT1B_ENST00000405237.3_Missense_Mutation_p.T649A|CPT1B_ENST00000434492.2_Missense_Mutation_p.T444A|CPT1B_ENST00000312108.7_Missense_Mutation_p.T649A	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	649					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CCTGCCCCGGTCATGGCCAGG	0.547																																					Esophageal Squamous(170;988 1933 25577 30295 48163)	ENST00000360719.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1945-1947)Acc>Gcc		carnitine palmitoyltransferase 1B (muscle)							170.0	165.0	167.0					22																	51009403		2203	4300	6503	SO:0001583	missense	1375				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr22:51009403T>C	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.1945A>G	22.37:g.51009403T>C	ENSP00000353945:p.Thr649Ala					CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Missense_Mutation_p.T444A|CPT1B_ENST00000440709.1_Missense_Mutation_p.T568A|CPT1B_ENST00000405237.3_Missense_Mutation_p.T649A|CPT1B_ENST00000395650.2_Missense_Mutation_p.T649A|CPT1B_ENST00000457250.1_Missense_Mutation_p.T615A|CPT1B_ENST00000312108.7_Missense_Mutation_p.T649A	p.T649A	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)	16	2082	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	649					B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	ENST00000360719.2	37	c.1945A>G	CCDS14098.1	.	.	.	.	.	.	.	.	.	.	T	18.34	3.602739	0.66445	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000434492;ENST00000395650	D;D;D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.93442	0.7908	M	0.73372	2.23	0.80722	D	1	D;B;D;D	0.89917	0.999;0.443;1.0;0.999	D;B;D;D	0.83275	0.996;0.304;0.986;0.986	D	0.92972	0.6398	10	0.41790	T	0.15	-15.9475	13.9942	0.64386	0.0:0.0:0.0:1.0	.	568;615;444;649	E9PCP2;B7Z4U4;A2RRE8;Q92523	.;.;.;CPT1B_HUMAN	A	649;649;649;615;568;444;649	ENSP00000385486:T649A;ENSP00000312189:T649A;ENSP00000353945:T649A;ENSP00000409342:T615A;ENSP00000414713:T568A;ENSP00000410966:T444A;ENSP00000379011:T649A	ENSP00000312189:T649A	T	-	1	0	CPT1B	49356269	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.587000	0.82613	2.192000	0.70111	0.533000	0.62120	ACC		0.547	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246		4	156	0	0	0	1	0	4	156				
GIPR	2696	broad.mit.edu	37	19	46177354	46177354	+	Missense_Mutation	SNP	G	G	A	rs199991013		TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr19:46177354G>A	ENST00000590918.1	+	6	506	c.407G>A	c.(406-408)cGg>cAg	p.R136Q	MIR642A_ENST00000385039.1_RNA|GIPR_ENST00000263281.3_Missense_Mutation_p.R136Q|GIPR_ENST00000304207.8_Missense_Mutation_p.R100Q	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	136			R -> W (in dbSNP:rs13306402).		activation of adenylate cyclase activity (GO:0007190)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|endocrine pancreas development (GO:0031018)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|response to axon injury (GO:0048678)|response to calcium ion (GO:0051592)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gastric inhibitory peptide receptor activity (GO:0016519)|peptide hormone binding (GO:0017046)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		ATCTTGGAGCGGTTGCAGGTC	0.582													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17580	0.0		0.0	False		,,,				2504	0.0					ENST00000590918.1																			0				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12						c.(406-408)cGg>cAg		gastric inhibitory polypeptide receptor							187.0	157.0	167.0					19																	46177354		2203	4300	6503	SO:0001583	missense	2696				generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane		g.chr19:46177354G>A		CCDS12671.1	19q13.2-q13.3	2012-08-10				ENSG00000010310		"""GPCR / Class B : Glucagon receptors"""	4271	protein-coding gene	gene with protein product		137241				7490109	Standard	NM_000164		Approved		uc002pcu.1	P48546		ENST00000590918.1:c.407G>A	19.37:g.46177354G>A	ENSP00000467494:p.Arg136Gln					GIPR_ENST00000304207.8_Missense_Mutation_p.R100Q|GIPR_ENST00000263281.3_Missense_Mutation_p.R136Q	p.R136Q	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)	6	506	+		Ovarian(192;0.051)|all_neural(266;0.112)	136		R -> W (in dbSNP:rs13306402).			B7WP14|B7ZKQ0|Q14401|Q16400|Q52M04|Q9UPI1	Missense_Mutation	SNP	ENST00000590918.1	37	c.407G>A	CCDS12671.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	13.24	2.176822	0.38413	.	.	ENSG00000010310	ENST00000263281;ENST00000304207	T;T	0.44083	0.93;0.93	4.78	3.71	0.42584	.	0.144148	0.31507	N	0.007536	T	0.24005	0.0581	L	0.31926	0.97	0.31240	N	0.695285	B;P;B	0.35844	0.062;0.524;0.056	B;B;B	0.22601	0.016;0.04;0.024	T	0.16660	-1.0395	10	0.24483	T	0.36	.	9.1557	0.36992	0.1027:0.0:0.8973:0.0	.	100;136;136	B7WP14;P48546;P48546-2	.;GIPR_HUMAN;.	Q	136;100	ENSP00000263281:R136Q;ENSP00000305321:R100Q	ENSP00000263281:R136Q	R	+	2	0	GIPR	50869194	0.998000	0.40836	1.000000	0.80357	0.860000	0.49131	2.472000	0.45136	2.471000	0.83476	0.561000	0.74099	CGG		0.582	GIPR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459640.1			7	116	0	0	0	1	0	7	116				
AJAP1	55966	broad.mit.edu	37	1	4772288	4772288	+	Frame_Shift_Del	DEL	C	C	-			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr1:4772288delC	ENST00000378191.4	+	2	739	c.358delC	c.(358-360)cccfs	p.P121fs	AJAP1_ENST00000378190.3_Frame_Shift_Del_p.P121fs	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	121					cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ACTGGCCAAGCCCCCAGCTGC	0.726																																						ENST00000378191.4																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24						c.(358-360)ccfs		adherens junctions associated protein 1							9.0	9.0	9.0					1																	4772288		2009	3977	5986	SO:0001589	frameshift_variant	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4772288delC	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.358delC	1.37:g.4772288delC	ENSP00000367433:p.Pro121fs					AJAP1_ENST00000378190.3_Frame_Shift_Del_p.P121fs	p.P121fs	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	2	739	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	121					Q9Y229	Frame_Shift_Del	DEL	ENST00000378191.4	37	c.358delC	CCDS54.1																																																																																				0.726	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		2	4						2	4	---	---	---	---
SDHAP1	255812	broad.mit.edu	37	3	195713385	195713386	+	RNA	INS	-	-	T	rs199843390		TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr3:195713385_195713386insT	ENST00000427841.1	-	0	176					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		AAAGCATGAACTTACGGAATCT	0.401																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195713385_195713386insT	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195713387_195713387dupT								NR_003264.2						0	176	-									RNA	INS	ENST00000427841.1	37																																																																																						0.401	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			6	11						6	11	---	---	---	---
RRP36	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	GCCGGG	-	rs200886831|rs551189349|rs199544375		TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr6:42989414_42989419delGCCGGG	ENST00000244496.5	+	1	32_37	c.22_27delGCCGGG	c.(22-27)gccgggdel	p.AG14del		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	14					ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A8_G9delAG(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TAACTAccgcgccggggccggggccg	0.777																																						ENST00000244496.5																			2	Deletion - In frame(2)	p.A8_G9delAG(2)	prostate(1)|central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						c.(22-27)del		ribosomal RNA processing 36 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	88745				ribosomal small subunit biogenesis|rRNA processing	nucleolus		g.chr6:42989414_42989419delGCCGGG	BC011933	CCDS34453.1	6p21.1	2010-07-06	2010-07-06	2010-07-06	ENSG00000124541	ENSG00000124541			21374	protein-coding gene	gene with protein product		613475	"""chromosome 6 open reading frame 153"""	C6orf153		20038530	Standard	NM_033112		Approved	dJ20C7.4	uc003otp.1	Q96EU6	OTTHUMG00000014715	ENST00000244496.5:c.22_27delGCCGGG	6.37:g.42989420_42989425delGCCGGG	ENSP00000244496:p.Ala14_Gly15del						p.AG14del	NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN			1	32_37	+			14					Q9BRF6|Q9P0C8	In_Frame_Del	DEL	ENST00000244496.5	37	c.22_27delGCCGGG	CCDS34453.1																																																																																				0.777	RRP36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040572.1	NM_033112		2	4						2	4	---	---	---	---
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs56831387|rs112413030|rs76614416	byFrequency	TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101									T cell receptor beta variable 29-1																		GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457														1983	0.395966	0.3812	0.5187	5008	,	,		21381	0.2222		0.5974	False		,,,				2504	0.3006					ENST00000422143.2																			0																	1374,2160		346,682,739						1.6	0.0		dbSNP_129	48	4141,3571		1278,1585,993	no	intergenic				1624,2267,1732	A1A1,A1R,RR		46.3045,38.8795,49.0397				5515,5731						0							g.chr7:142448200_142448207delGGTGGAAA	L36092		7q34	2012-02-07			ENSG00000232869	ENSG00000232869		"""T cell receptors / TRB locus"""	12210	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV291, TCRBV29S1, TCRBV4S1A1T			OTTHUMG00000158898		7.37:g.142448208_142448215delGGTGGAAA														0	101	+									RNA	DEL	ENST00000422143.2	37																																																																																						0.457	TRBV29-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352510.1	NG_001333		3	6						3	6	---	---	---	---
RP11-464F9.1	0	broad.mit.edu	37	10	75486922	75486923	+	RNA	INS	-	-	A	rs11387949|rs397749653	byFrequency	TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr10:75486922_75486923insA	ENST00000399449.3	-	0	427				BMS1P4_ENST00000584747.1_RNA|RP11-574K11.28_ENST00000580790.1_RNA																							GCTAACTTAGTAAAGTATAAGA	0.386													|||unknown(NO_COVERAGE)	2495	0.498203	0.4939	0.4769	5008	,	,		22389	0.2778		0.7594	False		,,,				2504	0.4775					ENST00000399449.3																			0																																																			0							g.chr10:75486922_75486923insA																													10.37:g.75486925_75486925dupA						BMS1P4_ENST00000584747.1_RNA|RP11-574K11.28_ENST00000580790.1_RNA								0	427	-									RNA	INS	ENST00000399449.3	37																																																																																						0.386	RP11-464F9.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000048674.2			3	5						3	5	---	---	---	---
GGT7	2686	broad.mit.edu	37	20	33447832	33447833	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr20:33447832_33447833delGG	ENST00000336431.5	-	6	800_801	c.756_757delCC	c.(754-759)tcccaafs	p.Q253fs		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	253					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						GCCAGGACTTGGGACCATGGCA	0.639																																						ENST00000336431.5																			0				NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						c.(754-759)tcaafs		gamma-glutamyltransferase 7																																				SO:0001589	frameshift_variant	2686				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr20:33447832_33447833delGG	AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"""Gamma-glutamyltransferases"""	4259	protein-coding gene	gene with protein product		612342	"""gamma-glutamyltransferase-like 3"""	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.756_757delCC	20.37:g.33447832_33447833delGG	ENSP00000338964:p.Gln253fs						p.SQ252fs	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN			6	800_801	-			252					Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Frame_Shift_Del	DEL	ENST00000336431.5	37	c.756_757delCC	CCDS13242.2																																																																																				0.639	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026		2	4						2	4	---	---	---	---
