#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
TUBB8P7	197331	broad.mit.edu	37	16	90161578	90161578	+	RNA	SNP	G	G	A	rs13337896	byFrequency	TCGA-SP-A6QH-01A-21D-A35I-08	TCGA-SP-A6QH-11A-12D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06c3f43d-8457-4be9-95fd-b7c86e5ad223	b9e1eb7d-7b59-483a-a035-d7b571ca085e	g.chr16:90161578G>A	ENST00000564451.1	+	0	931				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587													.|||	668	0.133387	0.0386	0.1499	5008	,	,		18807	0.4087		0.0537	False		,,,				2504	0.0481					ENST00000567960.1																			3	Substitution - Missense(3)	p.R105H(3)	urinary_tract(1)|prostate(1)|kidney(1)																																																197331							g.chr16:90161578G>A			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161578G>A						TUBB8P7_ENST00000564451.1_RNA								0	314	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.587	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		3	38	0	0	0	1	0	3	38				
ZBBX	79740	broad.mit.edu	37	3	167031891	167031891	+	Missense_Mutation	SNP	C	C	A			TCGA-SP-A6QH-01A-21D-A35I-08	TCGA-SP-A6QH-11A-12D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06c3f43d-8457-4be9-95fd-b7c86e5ad223	b9e1eb7d-7b59-483a-a035-d7b571ca085e	g.chr3:167031891C>A	ENST00000392766.2	-	16	1628	c.1288G>T	c.(1288-1290)Gat>Tat	p.D430Y	ZBBX_ENST00000455345.2_Missense_Mutation_p.D430Y|ZBBX_ENST00000392767.2_Missense_Mutation_p.D430Y|ZBBX_ENST00000307529.5_Missense_Mutation_p.D430Y|ZBBX_ENST00000392764.1_Missense_Mutation_p.D401Y|ZBBX_ENST00000469220.1_5'Flank	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	430						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TTCTGACAATCATGAAAAGCA	0.299																																						ENST00000392766.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(1288-1290)Gat>Tat		zinc finger, B-box domain containing							92.0	83.0	86.0					3																	167031891		1822	4079	5901	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:167031891C>A	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1288G>T	3.37:g.167031891C>A	ENSP00000376519:p.Asp430Tyr					ZBBX_ENST00000307529.5_Missense_Mutation_p.D430Y|ZBBX_ENST00000392767.2_Missense_Mutation_p.D430Y|ZBBX_ENST00000392764.1_Missense_Mutation_p.D401Y|ZBBX_ENST00000455345.2_Missense_Mutation_p.D430Y	p.D430Y	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN			16	1628	-			430					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.1288G>T	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	C	13.06	2.122869	0.37436	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.12569	2.84;2.84;2.83;2.83;2.67	5.29	5.29	0.74685	.	0.295572	0.29280	N	0.012619	T	0.31544	0.0800	L	0.52573	1.65	0.37284	D	0.907954	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.96	T	0.08126	-1.0737	10	0.87932	D	0	-13.4703	14.7753	0.69726	0.0:1.0:0.0:0.0	.	430;430	A8MT70-2;A8MT70	.;ZBBX_HUMAN	Y	430;430;430;430;401	ENSP00000376519:D430Y;ENSP00000376520:D430Y;ENSP00000390232:D430Y;ENSP00000305065:D430Y;ENSP00000376517:D401Y	ENSP00000305065:D430Y	D	-	1	0	ZBBX	168514585	0.100000	0.21855	0.972000	0.41901	0.035000	0.12851	0.399000	0.20916	2.620000	0.88729	0.655000	0.94253	GAT		0.299	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		12	58	1	0	0.00136819	1	0.00145941	12	58				
GPRASP1	9737	broad.mit.edu	37	X	101911811	101911811	+	Silent	SNP	G	G	C			TCGA-SP-A6QH-01A-21D-A35I-08	TCGA-SP-A6QH-11A-12D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06c3f43d-8457-4be9-95fd-b7c86e5ad223	b9e1eb7d-7b59-483a-a035-d7b571ca085e	g.chrX:101911811G>C	ENST00000361600.5	+	5	3771	c.2970G>C	c.(2968-2970)ggG>ggC	p.G990G	GPRASP1_ENST00000415986.1_Silent_p.G990G|GPRASP1_ENST00000537097.1_Silent_p.G990G|GPRASP1_ENST00000444152.1_Silent_p.G990G|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	990	OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GCAACTGTGGGTCCAGGACAT	0.512																																						ENST00000537097.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(2968-2970)ggG>ggC		G protein-coupled receptor associated sorting protein 1							154.0	132.0	140.0					X																	101911811		2203	4300	6503	SO:0001819	synonymous_variant	9737					cytoplasm	protein binding	g.chrX:101911811G>C	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.2970G>C	X.37:g.101911811G>C						GPRASP1_ENST00000361600.5_Silent_p.G990G|GPRASP1_ENST00000415986.1_Silent_p.G990G|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Silent_p.G990G	p.G990G	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN			6	3783	+			990			OPRD1-binding.		O43168|Q96LA1	Silent	SNP	ENST00000361600.5	37	c.2970G>C	CCDS35352.1																																																																																				0.512	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		4	64	0	0	0	1	0	4	64				
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	byFrequency	TCGA-SP-A6QH-01A-21D-A35I-08	TCGA-SP-A6QH-11A-12D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06c3f43d-8457-4be9-95fd-b7c86e5ad223	b9e1eb7d-7b59-483a-a035-d7b571ca085e	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	41								p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A41T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(121-123)Gcc>Acc																																						SO:0001583	missense	284802							g.chr20:29625877G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.121G>A	20.37:g.29625877G>A	ENSP00000278882:p.Ala41Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T	p.A41T							5	501	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.121G>A		.	.	.	.	.	.	.	.	.	.	g	8.740	0.918766	0.17982	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62498	0.02	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	.	.	.	0.52099	D	0.999942	B	0.24186	0.099	B	0.27715	0.082	T	0.43956	-0.9359	9	0.33940	T	0.23	.	9.3557	0.38164	0.0:0.0:1.0:0.0	rs7266938;rs7266938	46	F5H5R5	.	T	41;46;41	ENSP00000408863:A46T	ENSP00000278882:A41T	A	+	1	0	FRG1B	28239538	1.000000	0.71417	0.993000	0.49108	0.033000	0.12548	5.232000	0.65332	1.250000	0.43966	0.184000	0.17185	GCC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		3	51	0	0	0	1	0	3	51				
PCDHGA7	56108	broad.mit.edu	37	5	140763352	140763352	+	Missense_Mutation	SNP	T	T	C			TCGA-SP-A6QH-01A-21D-A35I-08	TCGA-SP-A6QH-11A-12D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06c3f43d-8457-4be9-95fd-b7c86e5ad223	b9e1eb7d-7b59-483a-a035-d7b571ca085e	g.chr5:140763352T>C	ENST00000518325.1	+	1	886	c.886T>C	c.(886-888)Tcg>Ccg	p.S296P	PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	296	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)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATCTGAACTCGCTTACAGG	0.418																																						ENST00000518325.1																			0				NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49						c.(886-888)Tcg>Ccg									56.0	56.0	56.0					5																	140763352		1860	4107	5967	SO:0001583	missense	56108							g.chr5:140763352T>C	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.886T>C	5.37:g.140763352T>C	ENSP00000430024:p.Ser296Pro					PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron	p.S296P	NM_018920.2	NP_061743.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	886	+								B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	c.886T>C	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	0.013	-1.617509	0.00828	.	.	ENSG00000253537	ENST00000518325	T	0.03124	4.04	5.15	2.71	0.32032	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.02380	0.0073	N	0.12443	0.215	0.09310	N	1	B;B	0.11235	0.0;0.004	B;B	0.15484	0.013;0.012	T	0.49418	-0.8942	9	0.19590	T	0.45	.	8.0274	0.30444	0.0:0.0711:0.1367:0.7922	.	296;296	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	P	296	ENSP00000430024:S296P	ENSP00000430024:S296P	S	+	1	0	PCDHGA7	140743536	0.000000	0.05858	0.862000	0.33874	0.268000	0.26511	-2.642000	0.00863	0.359000	0.24239	-0.316000	0.08728	TCG		0.418	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		7	23	0	0	0	1	0	7	23				
SYPL1	6856	broad.mit.edu	37	7	105738244	105738244	+	Silent	SNP	T	T	C			TCGA-SP-A6QH-01A-21D-A35I-08	TCGA-SP-A6QH-11A-12D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06c3f43d-8457-4be9-95fd-b7c86e5ad223	b9e1eb7d-7b59-483a-a035-d7b571ca085e	g.chr7:105738244T>C	ENST00000011473.2	-	4	394	c.348A>G	c.(346-348)caA>caG	p.Q116Q	SYPL1_ENST00000470347.1_Silent_p.Q98Q|SYPL1_ENST00000455385.2_Silent_p.Q98Q	NM_006754.3	NP_006745.1	Q16563	SYPL1_HUMAN	synaptophysin-like 1	116	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|integral component of synaptic vesicle membrane (GO:0030285)|secretory granule (GO:0030141)	transporter activity (GO:0005215)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	7						TAACATAGAATTGTGCAGAAG	0.423																																						ENST00000455385.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	7						c.(292-294)caA>caG		synaptophysin-like 1							155.0	134.0	141.0					7																	105738244		2203	4300	6503	SO:0001819	synonymous_variant	6856				synaptic transmission	cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle	transporter activity	g.chr7:105738244T>C		CCDS5736.1, CCDS47685.1	7q22.2	2005-05-24	2005-05-24	2005-05-24	ENSG00000008282	ENSG00000008282			11507	protein-coding gene	gene with protein product			"""synaptophysin-like protein"""	SYPL			Standard	NM_006754		Approved		uc003vdp.4	Q16563	OTTHUMG00000157587	ENST00000011473.2:c.348A>G	7.37:g.105738244T>C						SYPL1_ENST00000470347.1_Silent_p.Q98Q|SYPL1_ENST00000011473.2_Silent_p.Q116Q	p.Q98Q	NM_182715.2	NP_874384.1	Q16563	SYPL1_HUMAN			3	416	-			116			MARVEL.		A4D0R2|Q96AR8	Silent	SNP	ENST00000011473.2	37	c.294A>G	CCDS5736.1	.	.	.	.	.	.	.	.	.	.	T	10.62	1.401855	0.25291	.	.	ENSG00000008282	ENST00000464029	.	.	.	5.52	-2.56	0.06268	.	.	.	.	.	T	0.63686	0.2532	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62576	-0.6825	4	.	.	.	2.9479	13.8388	0.63426	0.0:0.674:0.0:0.326	.	.	.	.	S	22	.	.	N	-	2	0	SYPL1	105525480	0.991000	0.36638	0.992000	0.48379	0.996000	0.88848	0.190000	0.17057	-0.354000	0.08212	0.533000	0.62120	AAT		0.423	SYPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349221.1			9	48	0	0	0	1	0	9	48				
ID2	3398	broad.mit.edu	37	2	8822538	8822538	+	Silent	SNP	G	G	A			TCGA-SP-A6QH-01A-21D-A35I-08	TCGA-SP-A6QH-11A-12D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06c3f43d-8457-4be9-95fd-b7c86e5ad223	b9e1eb7d-7b59-483a-a035-d7b571ca085e	g.chr2:8822538G>A	ENST00000234091.4	+	3	1103	c.243G>A	c.(241-243)tcG>tcA	p.S81S	ID2_ENST00000396290.1_Silent_p.S81S|ID2_ENST00000331129.3_Silent_p.S81S|AC011747.7_ENST00000455965.1_RNA			Q02363	ID2_HUMAN	inhibitor of DNA binding 2, dominant negative helix-loop-helix protein	81					adipose tissue development (GO:0060612)|bundle of His development (GO:0003166)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|embryonic digestive tract morphogenesis (GO:0048557)|endodermal digestive tract morphogenesis (GO:0061031)|entrainment of circadian clock by photoperiod (GO:0043153)|enucleate erythrocyte differentiation (GO:0043353)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|locomotor rhythm (GO:0045475)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|membranous septum morphogenesis (GO:0003149)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|natural killer cell differentiation (GO:0001779)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of DNA binding (GO:0043392)|negative regulation of gene expression (GO:0010629)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate commitment (GO:0048663)|olfactory bulb development (GO:0021772)|oligodendrocyte development (GO:0014003)|Peyer's patch development (GO:0048541)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of lipid metabolic process (GO:0019216)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|protein complex (GO:0043234)	ion channel binding (GO:0044325)	p.S81S(1)		breast(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCCTGGACTCGCATCCCACTA	0.582																																						ENST00000234091.4																			1	Substitution - coding silent(1)	p.S81S(1)	prostate(1)	breast(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(241-243)tcG>tcA		inhibitor of DNA binding 2, dominant negative helix-loop-helix protein							68.0	70.0	69.0					2																	8822538		2203	4300	6503	SO:0001819	synonymous_variant	3398				cellular senescence|embryonic digestive tract morphogenesis|endodermal digestive tract morphogenesis|epithelial cell differentiation involved in mammary gland alveolus development|mammary gland epithelial cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of neuron differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|neuron fate commitment|positive regulation of blood pressure|positive regulation of cell cycle arrest|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent	protein complex	protein binding	g.chr2:8822538G>A		CCDS1659.1	2p25	2013-05-21			ENSG00000115738	ENSG00000115738		"""Basic helix-loop-helix proteins"""	5361	protein-coding gene	gene with protein product	"""cell growth-inhibiting gene 8"""	600386				8294468	Standard	NM_002166		Approved	GIG8, bHLHb26	uc002qza.3	Q02363	OTTHUMG00000112454	ENST00000234091.4:c.243G>A	2.37:g.8822538G>A						ID2_ENST00000331129.3_Silent_p.S81S|ID2_ENST00000396290.1_Silent_p.S81S	p.S81S			Q02363	ID2_HUMAN			3	1103	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		81						Silent	SNP	ENST00000234091.4	37	c.243G>A	CCDS1659.1																																																																																				0.582	ID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000231925.2	NM_002166		3	54	0	0	0	1	0	3	54				
TMEM132E	124842	broad.mit.edu	37	17	32956104	32956104	+	Missense_Mutation	SNP	C	C	T	rs371393529		TCGA-SP-A6QH-01A-21D-A35I-08	TCGA-SP-A6QH-11A-12D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06c3f43d-8457-4be9-95fd-b7c86e5ad223	b9e1eb7d-7b59-483a-a035-d7b571ca085e	g.chr17:32956104C>T	ENST00000321639.5	+	5	1277	c.949C>T	c.(949-951)Cgg>Tgg	p.R317W		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	317						integral component of membrane (GO:0016021)		p.R317W(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GTCAGTCAAGCGGAGGATCAT	0.612																																						ENST00000321639.5																			1	Substitution - Missense(1)	p.R317W(1)	cervix(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57						c.(949-951)Cgg>Tgg		transmembrane protein 132E			TRP/ARG	0,4406		0,0,2203	100.0	93.0	95.0		949	3.5	1.0	17		95	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMEM132E	NM_207313.1	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	317/985	32956104	1,13005	2203	4300	6503	SO:0001583	missense	124842					integral to membrane		g.chr17:32956104C>T	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.949C>T	17.37:g.32956104C>T	ENSP00000316532:p.Arg317Trp						p.R317W	NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	5	1277	+			317					Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.949C>T	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	c	13.27	2.187608	0.38609	0.0	1.16E-4	ENSG00000181291	ENST00000321639	T	0.19532	2.14	4.51	3.53	0.40419	.	0.000000	0.85682	D	0.000000	T	0.42223	0.1193	M	0.65975	2.015	0.51233	D	0.999917	D	0.89917	1.0	D	0.91635	0.999	T	0.35943	-0.9768	10	0.72032	D	0.01	-29.8251	11.4588	0.50197	0.3265:0.6735:0.0:0.0	.	317	Q6IEE7	T132E_HUMAN	W	317	ENSP00000316532:R317W	ENSP00000316532:R317W	R	+	1	2	TMEM132E	29980217	0.995000	0.38212	0.984000	0.44739	0.044000	0.14063	1.296000	0.33389	1.236000	0.43740	0.447000	0.29281	CGG		0.612	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		9	69	0	0	0	1	0	9	69				
C1orf106	55765	broad.mit.edu	37	1	200878465	200878465	+	Missense_Mutation	SNP	G	G	A			TCGA-SP-A6QH-01A-21D-A35I-08	TCGA-SP-A6QH-11A-12D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06c3f43d-8457-4be9-95fd-b7c86e5ad223	b9e1eb7d-7b59-483a-a035-d7b571ca085e	g.chr1:200878465G>A	ENST00000367342.4	+	8	1354	c.1154G>A	c.(1153-1155)cGc>cAc	p.R385H	C1orf106_ENST00000413687.2_Missense_Mutation_p.R300H	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	385										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						TGGCAGGGCCGCACCAGTGCC	0.642																																						ENST00000367342.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						c.(1153-1155)cGc>cAc		chromosome 1 open reading frame 106							19.0	20.0	19.0					1																	200878465		2200	4297	6497	SO:0001583	missense	55765							g.chr1:200878465G>A	AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.1154G>A	1.37:g.200878465G>A	ENSP00000356311:p.Arg385His					C1orf106_ENST00000413687.2_Missense_Mutation_p.R300H	p.R385H	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN			8	1354	+			385					B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Missense_Mutation	SNP	ENST00000367342.4	37	c.1154G>A		.	.	.	.	.	.	.	.	.	.	G	19.94	3.920304	0.73098	.	.	ENSG00000163362	ENST00000367342;ENST00000413687	T;T	0.47177	0.85;0.88	5.14	4.22	0.49857	.	0.362860	0.25994	N	0.026993	T	0.50257	0.1605	L	0.51422	1.61	0.29496	N	0.855308	D	0.67145	0.996	P	0.51806	0.68	T	0.51474	-0.8701	10	0.49607	T	0.09	-18.9217	10.6241	0.45497	0.0912:0.0:0.9088:0.0	.	385	Q3KP66	CA106_HUMAN	H	385;300	ENSP00000356311:R385H;ENSP00000392105:R300H	ENSP00000356311:R385H	R	+	2	0	C1orf106	199145088	0.870000	0.30015	1.000000	0.80357	0.811000	0.45836	3.975000	0.56859	1.158000	0.42547	0.655000	0.94253	CGC		0.642	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2	NM_018265		3	22	0	0	0	1	0	3	22				
BTN2A3P	54718	broad.mit.edu	37	6	26428143	26428143	+	RNA	SNP	G	G	C			TCGA-SP-A6QH-01A-21D-A35I-08	TCGA-SP-A6QH-11A-12D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06c3f43d-8457-4be9-95fd-b7c86e5ad223	b9e1eb7d-7b59-483a-a035-d7b571ca085e	g.chr6:26428143G>C	ENST00000466808.2	+	0	1112							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)											GATCCTGCCTGTTATCATGAT	0.428																																						ENST00000466808.2																			0																				181.0	169.0	173.0					6																	26428143		2203	4300	6503			54718							g.chr6:26428143G>C	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.26428143G>C														0	1112	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.428	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		3	103	0	0	0	1	0	3	103				
TXNDC2	84203	broad.mit.edu	37	18	9887074	9887074	+	Missense_Mutation	SNP	G	G	A			TCGA-SP-A6QH-01A-21D-A35I-08	TCGA-SP-A6QH-11A-12D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06c3f43d-8457-4be9-95fd-b7c86e5ad223	b9e1eb7d-7b59-483a-a035-d7b571ca085e	g.chr18:9887074G>A	ENST00000306084.6	+	2	797	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	TXNDC2_ENST00000357775.5_Missense_Mutation_p.E133K|TXNDC2_ENST00000536353.2_Intron	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	200	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCTCAGAAGAAGCCATCCA	0.577																																						ENST00000306084.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(598-600)Gaa>Aaa		thioredoxin domain containing 2 (spermatozoa)							152.0	154.0	153.0					18																	9887074		2203	4300	6503	SO:0001583	missense	84203				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9887074G>A	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.598G>A	18.37:g.9887074G>A	ENSP00000304908:p.Glu200Lys					TXNDC2_ENST00000357775.4_Missense_Mutation_p.E133K|TXNDC2_ENST00000536353.2_Intron	p.E200K	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	797	+			200			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.598G>A	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	g	1.272	-0.612710	0.03690	.	.	ENSG00000168454	ENST00000357775;ENST00000306084;ENST00000426718	T;T	0.16457	2.34;2.34	3.48	-6.08	0.02151	.	1.613580	0.03995	N	0.295530	T	0.05456	0.0144	N	0.02539	-0.55	0.09310	N	1	B	0.18013	0.025	B	0.11329	0.006	T	0.34204	-0.9838	9	.	.	.	-1.8327	6.0796	0.19935	0.4735:0.3503:0.1761:0.0	.	200	Q86VQ3	TXND2_HUMAN	K	133;200;200	ENSP00000350419:E133K;ENSP00000304908:E200K	.	E	+	1	0	TXNDC2	9877074	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.583000	0.00904	-0.859000	0.04105	-0.300000	0.09419	GAA		0.577	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			4	90	0	0	0	1	0	4	90				
SPIC	121599	broad.mit.edu	37	12	101880259	101880259	+	Missense_Mutation	SNP	C	C	A			TCGA-SP-A6QH-01A-21D-A35I-08	TCGA-SP-A6QH-11A-12D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06c3f43d-8457-4be9-95fd-b7c86e5ad223	b9e1eb7d-7b59-483a-a035-d7b571ca085e	g.chr12:101880259C>A	ENST00000551346.1	+	6	616	c.457C>A	c.(457-459)Ctt>Att	p.L153I	SPIC_ENST00000299272.5_Missense_Mutation_p.L153I			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	153					blastocyst development (GO:0001824)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						ACTTGCCGAGCTTTGGGGGAA	0.418																																						ENST00000551346.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						c.(457-459)Ctt>Att		Spi-C transcription factor (Spi-1/PU.1 related)							54.0	57.0	56.0					12																	101880259		2203	4300	6503	SO:0001583	missense	121599					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:101880259C>A	AF518404	CCDS9082.1	12q23	2005-10-18				ENSG00000166211			29549	protein-coding gene	gene with protein product		612568				12459275	Standard	NM_152323		Approved	MGC40611, SPI-C	uc021rcq.1	Q8N5J4	OTTHUMG00000170273	ENST00000551346.1:c.457C>A	12.37:g.101880259C>A	ENSP00000448580:p.Leu153Ile					SPIC_ENST00000299272.5_Missense_Mutation_p.L153I	p.L153I			Q8N5J4	SPIC_HUMAN			6	616	+			153						Missense_Mutation	SNP	ENST00000551346.1	37	c.457C>A	CCDS9082.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.722300	0.68959	.	.	ENSG00000166211	ENST00000551346;ENST00000299272	T;T	0.59083	0.29;0.29	4.69	4.69	0.59074	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.118491	0.64402	D	0.000014	T	0.75708	0.3886	M	0.86028	2.79	0.38165	D	0.939168	D	0.89917	1.0	D	0.87578	0.998	T	0.78507	-0.2177	10	0.37606	T	0.19	0.1823	11.5071	0.50472	0.0:0.9167:0.0:0.0833	.	153	Q8N5J4	SPIC_HUMAN	I	153	ENSP00000448580:L153I;ENSP00000299272:L153I	ENSP00000299272:L153I	L	+	1	0	SPIC	100404390	1.000000	0.71417	0.999000	0.59377	0.948000	0.59901	2.781000	0.47750	2.323000	0.78572	0.650000	0.86243	CTT		0.418	SPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408260.1	NM_152323		4	43	1	0	1	1	1	4	43				
ITGBL1	9358	broad.mit.edu	37	13	102359178	102359178	+	Missense_Mutation	SNP	G	G	A	rs149770736		TCGA-SP-A6QH-01A-21D-A35I-08	TCGA-SP-A6QH-11A-12D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06c3f43d-8457-4be9-95fd-b7c86e5ad223	b9e1eb7d-7b59-483a-a035-d7b571ca085e	g.chr13:102359178G>A	ENST00000376180.3	+	9	1424	c.1205G>A	c.(1204-1206)cGg>cAg	p.R402Q	ITGBL1_ENST00000545560.2_Missense_Mutation_p.R261Q|ITGBL1_ENST00000376162.3_Missense_Mutation_p.R309Q	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	402	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CAACATCCGCGGAAGTGTAAC	0.517																																						ENST00000376180.3																			0				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31						c.(1204-1206)cGg>cAg		integrin, beta-like 1 (with EGF-like repeat domains)		G	GLN/ARG	0,4406		0,0,2203	167.0	140.0	149.0		1205	4.1	0.4	13	dbSNP_134	149	1,8599	1.2+/-3.3	0,1,4299	no	missense	ITGBL1	NM_004791.1	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	402/495	102359178	1,13005	2203	4300	6503	SO:0001583	missense	9358				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	g.chr13:102359178G>A	AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"""ten integrin EGF-like repeat domains protein"", ""ITGBL1, integrin beta-like 1"""	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.1205G>A	13.37:g.102359178G>A	ENSP00000365351:p.Arg402Gln					ITGBL1_ENST00000376162.3_Missense_Mutation_p.R309Q|ITGBL1_ENST00000545560.2_Missense_Mutation_p.R261Q	p.R402Q	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN			9	1424	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		402			Cysteine-rich tandem repeats.		A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Missense_Mutation	SNP	ENST00000376180.3	37	c.1205G>A	CCDS9499.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488367	0.64074	0.0	1.16E-4	ENSG00000198542	ENST00000376180;ENST00000537118;ENST00000539955;ENST00000545560;ENST00000376162	T;T;T	0.58797	0.31;0.31;0.31	5.91	4.08	0.47627	.	0.044027	0.85682	N	0.000000	T	0.42040	0.1185	L	0.33137	0.985	0.43444	D	0.995628	B;B	0.18610	0.005;0.029	B;B	0.18871	0.002;0.023	T	0.15150	-1.0447	10	0.12766	T	0.61	.	10.0239	0.42059	0.0782:0.1376:0.7841:0.0	.	261;402	B3KTP1;O95965	.;ITGBL_HUMAN	Q	402;310;261;261;309	ENSP00000365351:R402Q;ENSP00000439903:R261Q;ENSP00000365332:R309Q	ENSP00000365332:R309Q	R	+	2	0	ITGBL1	101157179	1.000000	0.71417	0.442000	0.26870	0.888000	0.51559	6.383000	0.73172	0.737000	0.32582	0.655000	0.94253	CGG		0.517	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045669.2	NM_004791		4	148	0	0	0	1	0	4	148				
CCHCR1	54535	broad.mit.edu	37	6	31110764	31110766	+	In_Frame_Del	DEL	CTG	CTG	-	rs140560656		TCGA-SP-A6QH-01A-21D-A35I-08	TCGA-SP-A6QH-11A-12D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06c3f43d-8457-4be9-95fd-b7c86e5ad223	b9e1eb7d-7b59-483a-a035-d7b571ca085e	g.chr6:31110764_31110766delCTG	ENST00000376266.5	-	17	2320_2322	c.2198_2200delCAG	c.(2197-2202)gcagtg>gtg	p.A733del	CCHCR1_ENST00000396268.3_In_Frame_Del_p.A822del|CCHCR1_ENST00000396263.2_In_Frame_Del_p.A680del|CCHCR1_ENST00000451521.2_In_Frame_Del_p.A786del	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	733			A -> V. {ECO:0000269|PubMed:11348465}.		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CTGGTGGGCACTGCTGCTGCTAC	0.532																																						ENST00000396268.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						c.(2464-2469)gtg>g		coiled-coil alpha-helical rod protein 1																																				SO:0001651	inframe_deletion	54535				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	g.chr6:31110764_31110766delCTG	AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"""chromosome 6 open reading frame 18"""	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.2198_2200delCAG	6.37:g.31110770_31110772delCTG	ENSP00000365442:p.Ala733del					CCHCR1_ENST00000376266.5_In_Frame_Del_p.AV733del|CCHCR1_ENST00000451521.2_In_Frame_Del_p.AV786del|CCHCR1_ENST00000396263.2_In_Frame_Del_p.AV680del	p.AV822del	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN			17	2653_2655	-			733					A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	In_Frame_Del	DEL	ENST00000376266.5	37	c.2465_2467delCAG	CCDS4695.1																																																																																				0.532	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052		7	382						7	382	---	---	---	---
TPTE2P2	644623	broad.mit.edu	37	13	52857402	52857402	+	RNA	DEL	A	A	-	rs369941794		TCGA-SP-A6QH-01A-21D-A35I-08	TCGA-SP-A6QH-11A-12D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06c3f43d-8457-4be9-95fd-b7c86e5ad223	b9e1eb7d-7b59-483a-a035-d7b571ca085e	g.chr13:52857402delA	ENST00000451298.1	-	0	303																											ACTTAACGTCAAAAAAAATGT	0.289																																						ENST00000451298.1																			0																																																			644623							g.chr13:52857402delA																													13.37:g.52857402delA						RP11-64P12.8_ENST00000606031.1_RNA								0	303	-									RNA	DEL	ENST00000451298.1	37																																																																																						0.289	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			2	4						2	4	---	---	---	---
DOC2A	8448	broad.mit.edu	37	16	30020586	30020586	+	Frame_Shift_Del	DEL	G	G	-			TCGA-SP-A6QH-01A-21D-A35I-08	TCGA-SP-A6QH-11A-12D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06c3f43d-8457-4be9-95fd-b7c86e5ad223	b9e1eb7d-7b59-483a-a035-d7b571ca085e	g.chr16:30020586delG	ENST00000350119.4	-	4	544	c.354delC	c.(352-354)cccfs	p.P118fs	DOC2A_ENST00000564979.1_Frame_Shift_Del_p.P118fs|DOC2A_ENST00000567824.1_5'Flank|DOC2A_ENST00000564944.1_Frame_Shift_Del_p.P118fs	NM_001282062.1|NM_001282063.1|NM_001282068.1|NM_003586.2	NP_001268991.1|NP_001268992.1|NP_001268997.1|NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	118	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				nervous system development (GO:0007399)|regulation of calcium ion-dependent exocytosis (GO:0017158)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|lysosome (GO:0005764)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						TGAAATCCATGGGCTTGAGGC	0.647																																						ENST00000350119.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						c.(352-354)ccfs		double C2-like domains, alpha							19.0	16.0	17.0					16																	30020586		2178	4277	6455	SO:0001589	frameshift_variant	8448				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity	g.chr16:30020586delG	D31897	CCDS10666.1	16p11.2	2014-07-02			ENSG00000149927	ENSG00000149927		"""Synaptotagmins"""	2985	protein-coding gene	gene with protein product		604567				7826360, 9736751	Standard	NM_003586		Approved		uc002dvn.3	Q14183	OTTHUMG00000132109	ENST00000350119.4:c.354delC	16.37:g.30020586delG	ENSP00000340017:p.Pro118fs					DOC2A_ENST00000564944.1_Frame_Shift_Del_p.P118fs|DOC2A_ENST00000564979.1_Frame_Shift_Del_p.P118fs	p.P118fs	NM_003586.2	NP_003577.2	Q14183	DOC2A_HUMAN			4	544	-			118			C2 1.		B4DEJ2|H3BNH6|Q6P4G4|Q7Z5G0|Q8IVX0	Frame_Shift_Del	DEL	ENST00000350119.4	37	c.354delC	CCDS10666.1																																																																																				0.647	DOC2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255148.2	NM_003586		2	4						2	4	---	---	---	---
