#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
SERPINA6	866	broad.mit.edu	37	14	94776285	94776285	+	Silent	SNP	G	G	A			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr14:94776285G>A	ENST00000341584.3	-	3	818	c.672C>T	c.(670-672)gaC>gaT	p.D224D		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	224					glucocorticoid metabolic process (GO:0008211)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)|steroid binding (GO:0005496)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	CAGTTGTCTCGTCCACATAGA	0.547																																						ENST00000341584.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26						c.(670-672)gaC>gaT		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)						125.0	96.0	106.0					14																	94776285		2203	4300	6503	SO:0001819	synonymous_variant	866				regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	g.chr14:94776285G>A	J02943	CCDS9924.1	14q32.13	2014-02-18	2005-08-18		ENSG00000170099	ENSG00000170099		"""Serine (or cysteine) peptidase inhibitors"""	1540	protein-coding gene	gene with protein product	"""corticosteroid binding globulin"", ""transcortin"""	122500	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6"""	CBG		3299377, 7912884, 24172014	Standard	NM_001756		Approved		uc001ycv.3	P08185	OTTHUMG00000171346	ENST00000341584.3:c.672C>T	14.37:g.94776285G>A							p.D224D	NM_001756.3	NP_001747.2	P08185	CBG_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	3	818	-		all_cancers(154;0.0482)|all_epithelial(191;0.166)	224					A8K456|Q7Z2Q9	Silent	SNP	ENST00000341584.3	37	c.672C>T	CCDS9924.1																																																																																				0.547	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413065.1	NM_001756		13	37	0	0	0	1	0	13	37				
HHIP	64399	broad.mit.edu	37	4	145580946	145580946	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr4:145580946G>A	ENST00000296575.3	+	4	1442	c.787G>A	c.(787-789)Gag>Aag	p.E263K	HHIP_ENST00000511314.1_3'UTR|HHIP_ENST00000434550.2_Missense_Mutation_p.E263K|HHIP-AS1_ENST00000512359.1_RNA	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	263					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		AATTTTCAAGGAGCCTTATTT	0.373																																						ENST00000296575.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(787-789)Gag>Aag		hedgehog interacting protein							77.0	86.0	83.0					4																	145580946		2203	4300	6503	SO:0001583	missense	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145580946G>A	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.787G>A	4.37:g.145580946G>A	ENSP00000296575:p.Glu263Lys					HHIP_ENST00000434550.2_Missense_Mutation_p.E263K|HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000511314.1_3'UTR	p.E263K	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	4	1442	+	all_hematologic(180;0.151)		263					Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	c.787G>A	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714783	0.89112	.	.	ENSG00000164161	ENST00000296575;ENST00000434550	T;T	0.44482	2.56;0.92	5.78	5.78	0.91487	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.55986	0.1955	L	0.37750	1.13	0.80722	D	1	D;P	0.67145	0.996;0.903	D;P	0.79784	0.993;0.573	T	0.42032	-0.9475	10	0.23891	T	0.37	-26.6666	20.0009	0.97408	0.0:0.0:1.0:0.0	.	263;263	Q96QV1;Q96QV1-2	HHIP_HUMAN;.	K	263	ENSP00000296575:E263K;ENSP00000408587:E263K	ENSP00000296575:E263K	E	+	1	0	HHIP	145800396	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.736000	0.93811	0.555000	0.69702	GAG		0.373	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			6	112	0	0	0	1	0	6	112				
ZFPM2	23414	broad.mit.edu	37	8	106456601	106456601	+	Missense_Mutation	SNP	A	A	C			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr8:106456601A>C	ENST00000407775.2	+	3	543	c.293A>C	c.(292-294)gAt>gCt	p.D98A	ZFPM2_ENST00000520492.1_5'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	98					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GACGACTGGGATGGACCAGGT	0.423																																						ENST00000407775.2																			0				NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(292-294)gAt>gCt		zinc finger protein, FOG family member 2							65.0	68.0	67.0					8																	106456601		1887	4116	6003	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106456601A>C	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.293A>C	8.37:g.106456601A>C	ENSP00000384179:p.Asp98Ala					ZFPM2_ENST00000520492.1_5'UTR	p.D98A	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		3	543	+			98					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.293A>C	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.242506	0.79912	.	.	ENSG00000169946	ENST00000407775	T	0.20738	2.05	5.87	4.7	0.59300	.	0.144796	0.44285	D	0.000466	T	0.18130	0.0435	L	0.43152	1.355	0.80722	D	1	P	0.37525	0.598	B	0.32211	0.142	T	0.02121	-1.1210	10	0.72032	D	0.01	.	12.4663	0.55759	0.8744:0.0:0.0:0.1256	.	98	Q8WW38	FOG2_HUMAN	A	98	ENSP00000384179:D98A	ENSP00000384179:D98A	D	+	2	0	ZFPM2	106525777	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	8.649000	0.91067	1.130000	0.42092	0.533000	0.62120	GAT		0.423	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			3	12	0	0	0	1	0	3	12				
AP1G1	164	broad.mit.edu	37	16	71779049	71779049	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr16:71779049G>A	ENST00000299980.4	-	19	2438	c.1997C>T	c.(1996-1998)aCa>aTa	p.T666I	AP1G1_ENST00000393512.3_Missense_Mutation_p.T669I|AP1G1_ENST00000569748.1_Missense_Mutation_p.T666I|AP1G1_ENST00000423132.2_Missense_Mutation_p.T669I|AP1G1_ENST00000564155.1_Missense_Mutation_p.T91I|AP1G1_ENST00000433195.2_Missense_Mutation_p.T689I	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	666					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				TGCCTCACCTGTAAGGTTGAT	0.448																																						ENST00000299980.4																			0				breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28						c.(1996-1998)aCa>aTa		adaptor-related protein complex 1, gamma 1 subunit							91.0	91.0	91.0					16																	71779049		2198	4300	6498	SO:0001583	missense	164				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity	g.chr16:71779049G>A	Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.1997C>T	16.37:g.71779049G>A	ENSP00000299980:p.Thr666Ile					AP1G1_ENST00000569748.1_Missense_Mutation_p.T666I|AP1G1_ENST00000564155.1_Missense_Mutation_p.T91I|AP1G1_ENST00000433195.2_Missense_Mutation_p.T689I|AP1G1_ENST00000423132.2_Missense_Mutation_p.T669I|AP1G1_ENST00000393512.3_Missense_Mutation_p.T669I	p.T666I	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN			19	2438	-		Ovarian(137;0.125)	666					O75709|O75842|Q9UG09|Q9Y3U4	Missense_Mutation	SNP	ENST00000299980.4	37	c.1997C>T	CCDS32480.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.959972	0.34565	.	.	ENSG00000166747	ENST00000299980;ENST00000393512;ENST00000423132;ENST00000433195	T;T;T;T	0.15139	2.45;2.45;2.46;2.45	5.04	5.04	0.67666	.	0.269702	0.40469	N	0.001087	T	0.11879	0.0289	N	0.14661	0.345	0.47009	D	0.999287	B;B;B	0.20261	0.043;0.023;0.041	B;B;B	0.24848	0.032;0.028;0.056	T	0.13899	-1.0492	10	0.31617	T	0.26	-3.5703	14.3833	0.66926	0.0:0.1477:0.8523:0.0	.	666;689;669	O43747;B3KXW5;O43747-2	AP1G1_HUMAN;.;.	I	666;669;669;689	ENSP00000299980:T666I;ENSP00000377148:T669I;ENSP00000409153:T669I;ENSP00000403259:T689I	ENSP00000299980:T666I	T	-	2	0	AP1G1	70336550	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.627000	0.67784	2.523000	0.85059	0.555000	0.69702	ACA		0.448	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1			8	88	0	0	0	1	0	8	88				
TGM5	9333	broad.mit.edu	37	15	43545071	43545071	+	Missense_Mutation	SNP	C	C	T	rs113766373		TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr15:43545071C>T	ENST00000220420.5	-	6	755	c.748G>A	c.(748-750)Gcc>Acc	p.A250T	TGM5_ENST00000349114.4_Missense_Mutation_p.A168T	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	250					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GCAGGGTTGGCGCCGTCTGTG	0.547																																						ENST00000220420.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44						c.(748-750)Gcc>Acc		transglutaminase 5	L-Glutamine(DB00130)						84.0	74.0	77.0					15																	43545071		2202	4299	6501	SO:0001583	missense	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43545071C>T	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.748G>A	15.37:g.43545071C>T	ENSP00000220420:p.Ala250Thr					TGM5_ENST00000349114.4_Missense_Mutation_p.A168T	p.A250T	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	6	755	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	250					O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	c.748G>A	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	C	1.823	-0.471774	0.04445	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	D;D	0.88741	-2.42;-2.42	4.64	-2.06	0.07298	.	0.859290	0.10232	N	0.699506	T	0.56761	0.2007	N	0.00237	-1.79	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.002	T	0.58781	-0.7576	10	0.07990	T	0.79	-0.7873	5.64	0.17559	0.0:0.4178:0.1428:0.4394	.	168;250	O43548-2;O43548	.;TGM5_HUMAN	T	250;168;249	ENSP00000220420:A250T;ENSP00000220419:A168T	ENSP00000220420:A250T	A	-	1	0	TGM5	41332363	0.000000	0.05858	0.001000	0.08648	0.053000	0.15095	-0.449000	0.06812	-0.270000	0.09285	-0.291000	0.09656	GCC		0.547	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		5	84	0	0	0	1	0	5	84				
TRIM29	23650	broad.mit.edu	37	11	119998053	119998053	+	Missense_Mutation	SNP	C	C	A			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr11:119998053C>A	ENST00000341846.5	-	3	1546	c.1125G>T	c.(1123-1125)ttG>ttT	p.L375F	TRIM29_ENST00000541857.1_Missense_Mutation_p.L108F|TRIM29_ENST00000528870.1_5'Flank|TRIM29_ENST00000529044.1_Missense_Mutation_p.L114F	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	375					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CCTGCAGAAACAACACAGAGT	0.522																																						ENST00000341846.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						c.(1123-1125)ttG>ttT		tripartite motif containing 29							83.0	79.0	81.0					11																	119998053		2199	4295	6494	SO:0001583	missense	23650				transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:119998053C>A	AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"""Tripartite motif containing / Tripartite motif containing"""	17274	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM29"", ""ataxia-telangiectasia group D-associated protein"""	610658	"""tripartite motif-containing 29"""			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.1125G>T	11.37:g.119998053C>A	ENSP00000343129:p.Leu375Phe					TRIM29_ENST00000529044.1_Missense_Mutation_p.L114F|TRIM29_ENST00000541857.1_Missense_Mutation_p.L108F	p.L375F	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)	3	1546	-		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	375					Q96AA9|Q9BZY7	Missense_Mutation	SNP	ENST00000341846.5	37	c.1125G>T	CCDS8428.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578248	0.65878	.	.	ENSG00000137699	ENST00000341846;ENST00000541857;ENST00000529044	T	0.40225	1.04	5.14	-5.58	0.02512	.	0.000000	0.52532	D	0.000073	T	0.36908	0.0984	N	0.24115	0.695	0.43326	D	0.995355	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.996;0.996;0.997	T	0.45818	-0.9235	9	.	.	.	.	6.4035	0.21652	0.082:0.2457:0.4836:0.1888	.	108;114;375	B7Z8U9;E9PRL4;Q14134	.;.;TRI29_HUMAN	F	375;108;114	ENSP00000343129:L375F	.	L	-	3	2	TRIM29	119503263	0.920000	0.31207	0.964000	0.40570	0.786000	0.44442	-0.048000	0.11944	-0.689000	0.05149	-0.175000	0.13238	TTG		0.522	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	NM_012101		7	41	1	0	0.27861	1	0.27861	7	41				
KMT2C	58508	broad.mit.edu	37	7	151962178	151962178	+	Missense_Mutation	SNP	G	G	T			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr7:151962178G>T	ENST00000262189.6	-	8	1347	c.1129C>A	c.(1129-1131)Cca>Aca	p.P377T	KMT2C_ENST00000355193.2_Missense_Mutation_p.P377T	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	377					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CGTTTTAATGGAGTAACCGCT	0.453																																						ENST00000355193.2																			0											c.(1129-1131)Cca>Aca		lysine (K)-specific methyltransferase 2C							465.0	416.0	433.0					7																	151962178		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151962178G>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1129C>A	7.37:g.151962178G>T	ENSP00000262189:p.Pro377Thr					KMT2C_ENST00000262189.6_Missense_Mutation_p.P377T	p.P377T							8	1347	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.1129C>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	8.883	0.952119	0.18431	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.98822	-5.16;-5.16	4.65	3.76	0.43208	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.41500	U	0.000864	D	0.96836	0.8967	L	0.39467	1.215	0.80722	D	1	P	0.46395	0.877	B	0.43360	0.417	D	0.95685	0.8735	10	0.45353	T	0.12	.	14.2796	0.66202	0.0:0.2835:0.7165:0.0	.	377	Q8NEZ4	MLL3_HUMAN	T	377	ENSP00000262189:P377T;ENSP00000347325:P377T	ENSP00000262189:P377T	P	-	1	0	MLL3	151593111	1.000000	0.71417	1.000000	0.80357	0.058000	0.15608	5.473000	0.66774	1.047000	0.40274	-0.310000	0.09108	CCA		0.453	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			28	528	1	0	6.02846e-25	1	6.72944e-25	28	528				
HYDIN	54768	broad.mit.edu	37	16	70902478	70902478	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr16:70902478G>A	ENST00000393567.2	-	66	11455	c.11305C>T	c.(11305-11307)Cga>Tga	p.R3769*	SNORD112_ENST00000515891.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3769					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTTACTTTTCGTTTTGTAGTG	0.507																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(11305-11307)Cga>Tga		HYDIN, axonemal central pair apparatus protein							39.0	36.0	37.0					16																	70902478		1814	4044	5858	SO:0001587	stop_gained	54768							g.chr16:70902478G>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.11305C>T	16.37:g.70902478G>A	ENSP00000377197:p.Arg3769*						p.R3769*	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			66	11455	-		Ovarian(137;0.0654)	3769					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Nonsense_Mutation	SNP	ENST00000393567.2	37	c.11305C>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	53	20.983958	0.99936	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	.	.	.	5.17	3.06	0.35304	.	0.456909	0.13210	U	0.405214	.	.	.	.	.	.	0.30143	N	0.803773	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3301	0.32180	0.0:0.0986:0.5008:0.4007	.	.	.	.	X	3769;3768	.	ENSP00000313052:R3768X	R	-	1	2	HYDIN	69459979	1.000000	0.71417	0.562000	0.28370	0.973000	0.67179	2.292000	0.43549	0.483000	0.27608	0.511000	0.50034	CGA		0.507	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			8	21	0	0	0	1	0	8	21				
LAMA5	3911	broad.mit.edu	37	20	60887497	60887497	+	Missense_Mutation	SNP	T	T	G			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr20:60887497T>G	ENST00000252999.3	-	68	9385	c.9319A>C	c.(9319-9321)Aac>Cac	p.N3107H		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3107	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CCTGTCGTGTTCAGCCGCTTG	0.692																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(9319-9321)Aac>Cac		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						39.0	35.0	37.0					20																	60887497		2189	4293	6482	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60887497T>G	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.9319A>C	20.37:g.60887497T>G	ENSP00000252999:p.Asn3107His						p.N3107H	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		68	9385	-	Breast(26;1.57e-08)		3107			Laminin G-like 2.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.9319A>C	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	t	20.6	4.017311	0.75161	.	.	ENSG00000130702	ENST00000252999	T	0.42131	0.98	4.26	4.26	0.50523	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.276251	0.40144	N	0.001179	T	0.54822	0.1882	L	0.58101	1.795	0.80722	D	1	D	0.67145	0.996	P	0.59703	0.862	T	0.58042	-0.7706	10	0.54805	T	0.06	.	13.1986	0.59754	0.0:0.0:0.0:1.0	.	3107	O15230	LAMA5_HUMAN	H	3107	ENSP00000252999:N3107H	ENSP00000252999:N3107H	N	-	1	0	LAMA5	60320892	0.268000	0.24133	1.000000	0.80357	0.902000	0.53008	0.718000	0.25866	1.794000	0.52575	0.454000	0.30748	AAC		0.692	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		4	9	0	0	0	1	0	4	9				
NCKAP1L	3071	broad.mit.edu	37	12	54925128	54925128	+	Missense_Mutation	SNP	T	T	C			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr12:54925128T>C	ENST00000293373.6	+	23	2670	c.2591T>C	c.(2590-2592)aTt>aCt	p.I864T	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.I814T	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	864					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						ACCTCTCAGATTGTGGAGCTG	0.502																																						ENST00000293373.6																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						c.(2590-2592)aTt>aCt		NCK-associated protein 1-like							158.0	164.0	162.0					12																	54925128		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54925128T>C	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.2591T>C	12.37:g.54925128T>C	ENSP00000293373:p.Ile864Thr					NCKAP1L_ENST00000545638.2_Missense_Mutation_p.I814T	p.I864T	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN			23	2670	+			864					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.2591T>C	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	T	16.11	3.029309	0.54790	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.36520	1.25;1.25	4.66	4.66	0.58398	.	0.064020	0.64402	D	0.000009	T	0.34687	0.0906	L	0.55990	1.75	0.47214	D	0.999358	B	0.31413	0.322	B	0.32211	0.142	T	0.22034	-1.0228	10	0.48119	T	0.1	-14.9018	12.3845	0.55325	0.0:0.0:0.0:1.0	.	864	P55160	NCKPL_HUMAN	T	864;814	ENSP00000293373:I864T;ENSP00000445596:I814T	ENSP00000293373:I864T	I	+	2	0	NCKAP1L	53211395	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.677000	0.84024	2.094000	0.63399	0.459000	0.35465	ATT		0.502	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		4	217	0	0	0	1	0	4	217				
RP1L1	94137	broad.mit.edu	37	8	10470174	10470174	+	Silent	SNP	G	G	A	rs138367868		TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr8:10470174G>A	ENST00000382483.3	-	4	1657	c.1434C>T	c.(1432-1434)gaC>gaT	p.D478D		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	478					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGTCCACCCCGTCCTCCGGGG	0.697													G|||	1	0.000199681	0.0	0.0	5008	,	,		15042	0.0		0.001	False		,,,				2504	0.0					ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(1432-1434)gaC>gaT		retinitis pigmentosa 1-like 1		G		1,3873		0,1,1936	24.0	29.0	28.0		1434	-2.9	0.0	8	dbSNP_134	28	7,8213		0,7,4103	no	coding-synonymous	RP1L1	NM_178857.5		0,8,6039	AA,AG,GG		0.0852,0.0258,0.0661		478/2401	10470174	8,12086	1937	4110	6047	SO:0001819	synonymous_variant	94137				intracellular signal transduction			g.chr8:10470174G>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.1434C>T	8.37:g.10470174G>A							p.D478D	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	1657	-			478					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	c.1434C>T	CCDS43708.1																																																																																				0.697	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			3	40	0	0	0	1	0	3	40				
ERICH3	127254	broad.mit.edu	37	1	75037029	75037029	+	Silent	SNP	C	C	T			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr1:75037029C>T	ENST00000326665.5	-	14	4583	c.4365G>A	c.(4363-4365)caG>caA	p.Q1455Q	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1455	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TGGCTGCCTCCTGGCCCTCTG	0.592																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(4363-4365)caG>caA		chromosome 1 open reading frame 173							96.0	90.0	92.0					1																	75037029		2203	4300	6503	SO:0001819	synonymous_variant	127254							g.chr1:75037029C>T																												ENST00000326665.5:c.4365G>A	1.37:g.75037029C>T						C1orf173_ENST00000433746.2_5'UTR	p.Q1455Q	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	4583	-			1455			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	37	c.4365G>A	CCDS30755.1																																																																																				0.592	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			8	72	0	0	0	1	0	8	72				
TRBV6-7	28600	broad.mit.edu	37	7	142143879	142143879	+	RNA	SNP	A	A	T	rs376540425		TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr7:142143879A>T	ENST00000390373.2	-	0	116									T cell receptor beta variable 6-7 (non-functional)																		CACACAGCAGAGTCATGCTCT	0.507																																						ENST00000390373.2																			0																																																			0							g.chr7:142143879A>T	L36092		7q34	2012-02-07	2008-09-12		ENSG00000253188	ENSG00000253188		"""T cell receptors / TRB locus"""	12232	other	T cell receptor gene			"""T cell receptor beta variable 6-7"""			8650574	Standard	NG_001333		Approved	TRBV67, TCRBV13S8P, TCRBV6S7			OTTHUMG00000158511		7.37:g.142143879A>T														0	116	-									RNA	SNP	ENST00000390373.2	37																																																																																						0.507	TRBV6-7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351217.2	NG_001333		5	123	0	0	0	1	0	5	123				
TRBV6-7	28600	broad.mit.edu	37	7	142143906	142143906	+	RNA	SNP	G	G	C			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr7:142143906G>C	ENST00000390373.2	-	0	89									T cell receptor beta variable 6-7 (non-functional)																		TCTTCAGGACGTGGAATTTTG	0.527																																						ENST00000390373.2																			0																																																			0							g.chr7:142143906G>C	L36092		7q34	2012-02-07	2008-09-12		ENSG00000253188	ENSG00000253188		"""T cell receptors / TRB locus"""	12232	other	T cell receptor gene			"""T cell receptor beta variable 6-7"""			8650574	Standard	NG_001333		Approved	TRBV67, TCRBV13S8P, TCRBV6S7			OTTHUMG00000158511		7.37:g.142143906G>C														0	89	-									RNA	SNP	ENST00000390373.2	37																																																																																						0.527	TRBV6-7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351217.2	NG_001333		5	108	0	0	0	1	0	5	108				
RYR2	6262	broad.mit.edu	37	1	237923150	237923150	+	Silent	SNP	T	T	C			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr1:237923150T>C	ENST00000366574.2	+	83	11717	c.11400T>C	c.(11398-11400)tgT>tgC	p.C3800C	RYR2_ENST00000542537.1_Silent_p.C3784C|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Silent_p.C3806C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3800					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGCAGTCATGTAGGTAAGGAC	0.433																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(11398-11400)tgT>tgC		ryanodine receptor 2 (cardiac)							121.0	117.0	118.0					1																	237923150		1855	4102	5957	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237923150T>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.11400T>C	1.37:g.237923150T>C						RYR2_ENST00000542537.1_Silent_p.C3784C|RYR2_ENST00000360064.6_Silent_p.C3806C	p.C3800C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		83	11717	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3800					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.11400T>C	CCDS55691.1																																																																																				0.433	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		14	29	0	0	0	1	0	14	29				
AP1G2	8906	broad.mit.edu	37	14	24035556	24035556	+	Silent	SNP	C	C	T			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr14:24035556C>T	ENST00000308724.5	-	3	1157	c.402G>A	c.(400-402)gaG>gaA	p.E134E	RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000556277.1_5'UTR|AP1G2_ENST00000397120.3_Silent_p.E134E	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	134					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CTCGGCACATCTCAGCAGAGC	0.617																																						ENST00000308724.5																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28						c.(400-402)gaG>gaA		adaptor-related protein complex 1, gamma 2 subunit							67.0	64.0	65.0					14																	24035556		2203	4300	6503	SO:0001819	synonymous_variant	8906				interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity	g.chr14:24035556C>T	AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.402G>A	14.37:g.24035556C>T						AP1G2_ENST00000397120.3_Silent_p.E134E|RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000556277.1_5'UTR	p.E134E	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN		GBM - Glioblastoma multiforme(265;0.00672)	3	1157	-	all_cancers(95;0.000251)		134					D3DS51|O75504	Silent	SNP	ENST00000308724.5	37	c.402G>A	CCDS9602.1																																																																																				0.617	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	NM_003917		21	44	0	0	0	1	0	21	44				
CATSPER1	117144	broad.mit.edu	37	11	65789325	65789325	+	Silent	SNP	G	G	A			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr11:65789325G>A	ENST00000312106.5	-	3	1592	c.1455C>T	c.(1453-1455)tcC>tcT	p.S485S		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	485					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						AGAAGAATATGGAGTCCAAGG	0.562																																						ENST00000312106.5																			0				breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1453-1455)tcC>tcT		cation channel, sperm associated 1							144.0	129.0	134.0					11																	65789325		2201	4296	6497	SO:0001819	synonymous_variant	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65789325G>A	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.1455C>T	11.37:g.65789325G>A							p.S485S	NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN			3	1592	-			485					Q96P76	Silent	SNP	ENST00000312106.5	37	c.1455C>T	CCDS8127.1																																																																																				0.562	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		22	50	0	0	0	1	0	22	50				
AKNAD1	254268	broad.mit.edu	37	1	109369904	109369904	+	Missense_Mutation	SNP	T	T	C			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr1:109369904T>C	ENST00000370001.3	-	11	2127	c.1859A>G	c.(1858-1860)aAg>aGg	p.K620R	AKNAD1_ENST00000369995.3_Missense_Mutation_p.K620R|AKNAD1_ENST00000369994.1_Missense_Mutation_p.K590R|AKNAD1_ENST00000357393.4_Missense_Mutation_p.K327R	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	620						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TCCGTGGCCCTTTTTCTCCAC	0.413																																						ENST00000370001.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						c.(1858-1860)aAg>aGg		AKNA domain containing 1							183.0	188.0	186.0					1																	109369904		2203	4299	6502	SO:0001583	missense	254268							g.chr1:109369904T>C	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.1859A>G	1.37:g.109369904T>C	ENSP00000359018:p.Lys620Arg					AKNAD1_ENST00000369994.1_Missense_Mutation_p.K590R|AKNAD1_ENST00000369995.3_Missense_Mutation_p.K620R|AKNAD1_ENST00000357393.4_Missense_Mutation_p.K327R	p.K620R	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN			11	2127	-			620					B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	c.1859A>G	CCDS791.2	.	.	.	.	.	.	.	.	.	.	T	11.26	1.586061	0.28268	.	.	ENSG00000162641	ENST00000370001;ENST00000357393;ENST00000369994;ENST00000369995	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	4.87	1.29	0.21616	.	1.029790	0.07724	N	0.944149	T	0.06962	0.0177	L	0.36672	1.1	0.09310	N	1	B;B	0.15719	0.014;0.005	B;B	0.12156	0.007;0.004	T	0.40496	-0.9560	10	0.35671	T	0.21	-2.1788	6.0331	0.19690	0.0:0.3909:0.0:0.6091	.	327;620	B4DET8;Q5T1N1	.;AKND1_HUMAN	R	620;327;590;620	ENSP00000359018:K620R;ENSP00000349968:K327R;ENSP00000359011:K590R;ENSP00000359012:K620R	ENSP00000349968:K327R	K	-	2	0	AKNAD1	109171427	0.001000	0.12720	0.001000	0.08648	0.119000	0.20118	0.136000	0.15974	0.125000	0.18397	0.379000	0.24179	AAG		0.413	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		4	205	0	0	0	1	0	4	205				
GPR50	9248	broad.mit.edu	37	X	150349723	150349723	+	Silent	SNP	C	C	T			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chrX:150349723C>T	ENST00000218316.3	+	2	1737	c.1668C>T	c.(1666-1668)gaC>gaT	p.D556D	AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	556	Pro-rich.				cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CTGTGTCTGACGACAGTGACC	0.642													C|||	1	0.000264901	0.0	0.0	3775	,	,		14511	0.0		0.0	False		,,,				2504	0.001					ENST00000218316.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38						c.(1666-1668)gaC>gaT		G protein-coupled receptor 50							62.0	68.0	66.0					X																	150349723		2156	4244	6400	SO:0001819	synonymous_variant	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150349723C>T	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.1668C>T	X.37:g.150349723C>T							p.D556D	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN			2	1737	+	Acute lymphoblastic leukemia(192;6.56e-05)		556			Pro-rich.		Q0VGG3|Q3ZAR0	Silent	SNP	ENST00000218316.3	37	c.1668C>T	CCDS44012.1																																																																																				0.642	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		42	32	0	0	0	1	0	42	32				
MUC16	94025	broad.mit.edu	37	19	9069614	9069614	+	Silent	SNP	G	G	A	rs375728976		TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr19:9069614G>A	ENST00000397910.4	-	3	18035	c.17832C>T	c.(17830-17832)tcC>tcT	p.S5944S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5946	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGATACTGCGGAATAAAGAG	0.512																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(17830-17832)tcC>tcT		mucin 16, cell surface associated		G		0,3912		0,0,1956	99.0	94.0	95.0		17832	-0.6	0.0	19		95	2,8276		0,2,4137	no	coding-synonymous	MUC16	NM_024690.2		0,2,6093	AA,AG,GG		0.0242,0.0,0.0164		5944/14508	9069614	2,12188	1956	4139	6095	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9069614G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.17832C>T	19.37:g.9069614G>A							p.S5944S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	18035	-			5946			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.17832C>T	CCDS54212.1																																																																																				0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		7	66	0	0	0	1	0	7	66				
ANK2	287	broad.mit.edu	37	4	114274943	114274943	+	Silent	SNP	A	A	G			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr4:114274943A>G	ENST00000357077.4	+	38	5222	c.5169A>G	c.(5167-5169)gcA>gcG	p.A1723A	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Silent_p.A1690A	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1723					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)			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)		AAGCTAGTGCAGAGAAAGCTG	0.423																																						ENST00000357077.4																			0				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.(5167-5169)gcA>gcG		ankyrin 2, neuronal							180.0	189.0	186.0					4																	114274943		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114274943A>G	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.5169A>G	4.37:g.114274943A>G						ANK2_ENST00000264366.6_Silent_p.A1690A|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron	p.A1723A	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	5222	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1690					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.5169A>G	CCDS3702.1																																																																																				0.423	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		13	209	0	0	0	1	0	13	209				
RUNDC3B	154661	broad.mit.edu	37	7	87369182	87369182	+	Silent	SNP	T	T	C			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr7:87369182T>C	ENST00000338056.3	+	6	996	c.585T>C	c.(583-585)aaT>aaC	p.N195N	RUNDC3B_ENST00000493037.1_Silent_p.N178N|RUNDC3B_ENST00000394654.3_Silent_p.N178N|RUNDC3B_ENST00000496000.1_3'UTR	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	195	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.									breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TAGGACTCAATGCTATTGATT	0.308																																						ENST00000338056.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26						c.(583-585)aaT>aaC		RUN domain containing 3B							65.0	64.0	64.0					7																	87369182		2203	4299	6502	SO:0001819	synonymous_variant	154661							g.chr7:87369182T>C		CCDS5609.1, CCDS47635.1, CCDS47636.1	7q21.12	2009-01-14			ENSG00000105784	ENSG00000105784			30286	protein-coding gene	gene with protein product						12645870	Standard	NM_138290		Approved	RPIP9, RPIB9	uc003ujb.3	Q96NL0	OTTHUMG00000131035	ENST00000338056.3:c.585T>C	7.37:g.87369182T>C						RUNDC3B_ENST00000493037.1_Silent_p.N178N|RUNDC3B_ENST00000496000.1_3'UTR|RUNDC3B_ENST00000394654.3_Silent_p.N178N	p.N195N	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN			6	996	+	Esophageal squamous(14;0.00164)		195			RUN.		B4DFD0|E9PBR4|Q8IWW5|Q8NB55|Q8TBG7	Silent	SNP	ENST00000338056.3	37	c.585T>C	CCDS5609.1																																																																																				0.308	RUNDC3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253679.1	NM_138290		4	43	0	0	0	1	0	4	43				
ARHGAP9	64333	broad.mit.edu	37	12	57868688	57868688	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr12:57868688G>A	ENST00000356411.2	-	13	1816	c.1678C>T	c.(1678-1680)Cgg>Tgg	p.R560W	ARHGAP9_ENST00000430041.2_Missense_Mutation_p.R357W|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.R541W|ARHGAP9_ENST00000550454.1_5'Flank|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.R541W|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.R620W|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.R631W			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	560	Lipid binding.|Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			ATGCAGAGCCGCAAAAAGCTG	0.547																																						ENST00000393797.2																			0				endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30						c.(1891-1893)Cgg>Tgg		Rho GTPase activating protein 9							55.0	53.0	54.0					12																	57868688		2203	4300	6503	SO:0001583	missense	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57868688G>A	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.1678C>T	12.37:g.57868688G>A	ENSP00000348782:p.Arg560Trp					ARHGAP9_ENST00000550288.1_Missense_Mutation_p.R620W|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.R357W|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.R541W|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.R560W|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.R541W	p.R631W			Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		16	2083	-			560			Rho-GAP.		B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	37	c.1891C>T		.	.	.	.	.	.	.	.	.	.	G	18.53	3.644828	0.67358	.	.	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000423291;ENST00000424809;ENST00000393797;ENST00000340423;ENST00000430041;ENST00000550130	T;T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09;2.09	5.2	3.31	0.37934	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.126110	0.52532	D	0.000063	T	0.39436	0.1078	L	0.55834	1.745	0.44268	D	0.997121	D;D;D;D;P	0.89917	0.999;1.0;0.998;1.0;0.94	D;D;P;D;B	0.87578	0.916;0.998;0.809;0.997;0.362	T	0.13072	-1.0523	10	0.56958	D	0.05	.	12.3366	0.55071	0.0:0.0:0.6927:0.3072	.	620;560;541;541;357	Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9;B4DVI3	.;RHG09_HUMAN;.;.;.	W	541;560;211;541;631;590;357;48	ENSP00000377380:R541W;ENSP00000348782:R560W;ENSP00000394307:R541W;ENSP00000377386:R631W;ENSP00000397950:R357W;ENSP00000448423:R48W	ENSP00000344852:R590W	R	-	1	2	ARHGAP9	56154955	0.011000	0.17503	0.986000	0.45419	0.989000	0.77384	1.565000	0.36386	0.814000	0.34374	-0.175000	0.13238	CGG		0.547	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		3	47	0	0	0	1	0	3	47				
RASD1	51655	broad.mit.edu	37	17	17398953	17398953	+	Missense_Mutation	SNP	A	A	G			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr17:17398953A>G	ENST00000225688.3	-	2	543	c.332T>C	c.(331-333)tTc>tCc	p.F111S	RASD1_ENST00000579152.1_Intron	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1	111					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide mediated signal transduction (GO:0007263)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						CACCTCCTCGAAGGAGTCGCG	0.592																																						ENST00000225688.3																			0				endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						c.(331-333)tTc>tCc		RAS, dexamethasone-induced 1							26.0	24.0	25.0					17																	17398953		2203	4300	6503	SO:0001583	missense	51655				G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction	nucleus|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity	g.chr17:17398953A>G	AF069506	CCDS11185.1, CCDS58519.1	17p11.2	2014-05-09			ENSG00000108551	ENSG00000108551			15828	protein-coding gene	gene with protein product	"""ras-related protein"", ""dexamethasone-induced ras-related protein 1"", ""activator of G protein signaling"""	605550				10947988	Standard	NM_001199989		Approved	DEXRAS1, AGS1	uc002gri.3	Q9Y272	OTTHUMG00000059292	ENST00000225688.3:c.332T>C	17.37:g.17398953A>G	ENSP00000225688:p.Phe111Ser					RASD1_ENST00000579152.1_Intron	p.F111S	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN			2	543	-			111					B2R709|B4DFF4|Q9NYB4	Missense_Mutation	SNP	ENST00000225688.3	37	c.332T>C	CCDS11185.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.682543	0.88542	.	.	ENSG00000108551	ENST00000225688	D	0.82526	-1.62	4.94	4.94	0.65067	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.94499	0.8229	H	0.98612	4.28	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.96291	0.9214	10	0.87932	D	0	.	13.7654	0.62992	1.0:0.0:0.0:0.0	.	111	Q9Y272	RASD1_HUMAN	S	111	ENSP00000225688:F111S	ENSP00000225688:F111S	F	-	2	0	RASD1	17339678	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.107000	0.94261	1.840000	0.53500	0.533000	0.62120	TTC		0.592	RASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131668.1	NM_016084		3	28	0	0	0	1	0	3	28				
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318																																						ENST00000402038.3																			1	Substitution - Missense(1)	p.A584T(1)	kidney(1)	endometrium(5)|kidney(2)|lung(1)|ovary(2)	10						c.(295-297)Gca>Aca		poly (ADP-ribose) glycohydrolase							235.0	183.0	198.0					10																	51093329		692	1589	2281	SO:0001583	missense	8505				carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	g.chr10:51093329C>T	AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.295G>A	10.37:g.51093329C>T	ENSP00000384408:p.Ala99Thr						p.A99T	NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN		Epithelial(53;0.213)	4	294	-			584					A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Missense_Mutation	SNP	ENST00000402038.3	37	c.295G>A		.	.	.	.	.	.	.	.	.	.	C	12.89	2.073258	0.36566	.	.	ENSG00000227345	ENST00000402038	.	.	.	3.88	2.96	0.34315	.	.	.	.	.	T	0.46678	0.1405	M	0.61703	1.905	.	.	.	B;B;P;P;P;B	0.41947	0.002;0.003;0.574;0.766;0.766;0.006	B;B;B;B;B;B	0.38616	0.006;0.006;0.191;0.179;0.277;0.01	T	0.56631	-0.7947	7	0.18710	T	0.47	-4.0352	11.9338	0.52862	0.0:0.9123:0.0:0.0877	.	502;584;135;99;124;584	Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4	.;PARG_HUMAN;.;.;.;.	T	99	.	ENSP00000384408:A99T	A	-	1	0	PARG	50763335	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.907000	0.39897	0.952000	0.37798	0.407000	0.27541	GCA		0.318	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631		4	39	0	0	0	1	0	4	39				
BAGE2	85319	broad.mit.edu	37	21	11049505	11049505	+	RNA	SNP	G	G	T			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr21:11049505G>T	ENST00000470054.1	-	0	603							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CGTTTTAATGGAGTAACCGCT	0.458																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							89.0	43.0	57.0					21																	11049505		692	1580	2272			85319							g.chr21:11049505G>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11049505G>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	603	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.458	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		7	205	1	0	7.03913e-09	1	7.5084e-09	7	205				
MICAL2	9645	broad.mit.edu	37	11	12265584	12265584	+	Silent	SNP	C	C	G			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr11:12265584C>G	ENST00000256194.4	+	21	2997	c.2709C>G	c.(2707-2709)ccC>ccG	p.P903P	MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000342902.5_Silent_p.P903P|MICAL2_ENST00000527546.1_Intron|MICAL2_ENST00000537344.1_Intron	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	903					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CATCTCCTCCCTCTCGCCTTC	0.463																																						ENST00000256194.4																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47						c.(2707-2709)ccC>ccG		microtubule associated monooxygenase, calponin and LIM domain containing 2							415.0	349.0	372.0					11																	12265584		2201	4294	6495	SO:0001819	synonymous_variant	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12265584C>G	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.2709C>G	11.37:g.12265584C>G						MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000527546.1_Intron|MICAL2_ENST00000537344.1_Intron|MICAL2_ENST00000342902.5_Silent_p.P903P	p.P903P	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	21	2997	+			903					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Silent	SNP	ENST00000256194.4	37	c.2709C>G	CCDS7809.1																																																																																				0.463	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		5	158	0	0	0	1	0	5	158				
TRBV6-7	28600	broad.mit.edu	37	7	142143907	142143907	+	RNA	SNP	T	T	C			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr7:142143907T>C	ENST00000390373.2	-	0	88									T cell receptor beta variable 6-7 (non-functional)																		CTTCAGGACGTGGAATTTTGG	0.527																																						ENST00000390373.2																			0																																																			0							g.chr7:142143907T>C	L36092		7q34	2012-02-07	2008-09-12		ENSG00000253188	ENSG00000253188		"""T cell receptors / TRB locus"""	12232	other	T cell receptor gene			"""T cell receptor beta variable 6-7"""			8650574	Standard	NG_001333		Approved	TRBV67, TCRBV13S8P, TCRBV6S7			OTTHUMG00000158511		7.37:g.142143907T>C														0	88	-									RNA	SNP	ENST00000390373.2	37																																																																																						0.527	TRBV6-7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351217.2	NG_001333		5	107	0	0	0	1	0	5	107				
HHAT	55733	broad.mit.edu	37	1	210637880	210637880	+	Silent	SNP	C	C	T			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr1:210637880C>T	ENST00000367010.1	+	8	1115	c.888C>T	c.(886-888)ttC>ttT	p.F296F	HHAT_ENST00000261458.3_Silent_p.F296F|HHAT_ENST00000367009.1_5'UTR|HHAT_ENST00000537898.1_Silent_p.F231F|HHAT_ENST00000545154.1_Silent_p.F297F|HHAT_ENST00000541565.1_Silent_p.F159F|HHAT_ENST00000308852.6_Silent_p.F251F|HHAT_ENST00000413764.2_Silent_p.F296F|HHAT_ENST00000545781.1_Silent_p.F233F|HHAT_ENST00000391905.3_Silent_p.F296F	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	296					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		TGCTCTTTTTCTACGTGAAGT	0.562																																						ENST00000367010.1																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(886-888)ttC>ttT		hedgehog acyltransferase							223.0	218.0	220.0					1																	210637880		2203	4300	6503	SO:0001819	synonymous_variant	55733				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210637880C>T	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.888C>T	1.37:g.210637880C>T						HHAT_ENST00000308852.6_Silent_p.F251F|HHAT_ENST00000391905.3_Silent_p.F296F|HHAT_ENST00000413764.2_Silent_p.F296F|HHAT_ENST00000545781.1_Silent_p.F233F|HHAT_ENST00000545154.1_Silent_p.F297F|HHAT_ENST00000537898.1_Silent_p.F231F|HHAT_ENST00000367009.1_5'UTR|HHAT_ENST00000541565.1_Silent_p.F159F|HHAT_ENST00000261458.3_Silent_p.F296F	p.F296F	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	8	1115	+			296					B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Silent	SNP	ENST00000367010.1	37	c.888C>T	CCDS1495.1																																																																																				0.562	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		33	148	0	0	0	1	0	33	148				
OR2D2	120776	broad.mit.edu	37	11	6913340	6913340	+	Missense_Mutation	SNP	C	C	T	rs143950338		TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr11:6913340C>T	ENST00000299459.2	-	1	490	c.392G>A	c.(391-393)cGt>cAt	p.R131H		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	131					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R131H(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GTTAGGGTAACGCAGAGGATT	0.498																																						ENST00000299459.2																			1	Substitution - Missense(1)	p.R131H(1)	lung(1)	breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18						c.(391-393)cGt>cAt		olfactory receptor, family 2, subfamily D, member 2			HIS/ARG	0,4402		0,0,2201	140.0	109.0	119.0		392	2.8	0.2	11	dbSNP_134	119	2,8590	2.2+/-6.3	0,2,4294	no	missense	OR2D2	NM_003700.1	29	0,2,6495	TT,TC,CC		0.0233,0.0,0.0154	benign	131/309	6913340	2,12992	2201	4296	6497	SO:0001583	missense	120776				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6913340C>T	AB065824	CCDS31416.1	11p15.4	2012-08-09			ENSG00000166368	ENSG00000166368		"""GPCR / Class A : Olfactory receptors"""	8244	protein-coding gene	gene with protein product		608494		OR2D1		9787077	Standard	NM_003700		Approved	OR11-610, hg27	uc010rau.2	Q9H210	OTTHUMG00000165741	ENST00000299459.2:c.392G>A	11.37:g.6913340C>T	ENSP00000299459:p.Arg131His						p.R131H	NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	490	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	131					B9EIL5|O95224|Q6IF28|Q8NGH4|Q96R52	Missense_Mutation	SNP	ENST00000299459.2	37	c.392G>A	CCDS31416.1	.	.	.	.	.	.	.	.	.	.	c	1.208	-0.630565	0.03584	0.0	2.33E-4	ENSG00000166368	ENST00000299459	T	0.00669	5.9	5.23	2.81	0.32909	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	N	0.000110	T	0.00468	0.0015	N	0.13003	0.285	0.22562	N	0.998984	B	0.02656	0.0	B	0.01281	0.0	T	0.48502	-0.9030	10	0.02654	T	1	-11.6662	3.3029	0.06989	0.1362:0.0769:0.142:0.6449	.	131	Q9H210	OR2D2_HUMAN	H	131	ENSP00000299459:R131H	ENSP00000299459:R131H	R	-	2	0	OR2D2	6869916	0.000000	0.05858	0.184000	0.23157	0.850000	0.48378	-0.381000	0.07417	0.146000	0.19002	-0.288000	0.09946	CGT		0.498	OR2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385986.1	NM_003700		11	93	0	0	0	1	0	11	93				
SMTNL1	219537	broad.mit.edu	37	11	57310507	57310507	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr11:57310507C>T	ENST00000399154.2	+	1	392	c.392C>T	c.(391-393)aCg>aTg	p.T131M	SMTNL1_ENST00000457912.1_Missense_Mutation_p.T149M|SMTNL1_ENST00000527972.1_Missense_Mutation_p.T131M			A8MU46	SMTL1_HUMAN	smoothelin-like 1	131	Glu-rich.				negative regulation of vasodilation (GO:0045908)|positive regulation of vasoconstriction (GO:0045907)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						AAGGAGAGCACGCTGGCCTCT	0.522																																						ENST00000457912.1																			0				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						c.(445-447)aCg>aTg		smoothelin-like 1							35.0	37.0	37.0					11																	57310507		2014	4176	6190	SO:0001583	missense	219537							g.chr11:57310507C>T	BX116227		11q12.1	2006-02-02				ENSG00000214872			32394	protein-coding gene	gene with protein product	"""calponin homology-associated smooth muscle protein"""	613664				15327999	Standard	NM_001105565		Approved	CHASM	uc021qjh.1	A8MU46		ENST00000399154.2:c.392C>T	11.37:g.57310507C>T	ENSP00000382108:p.Thr131Met					SMTNL1_ENST00000527972.1_Missense_Mutation_p.T131M|SMTNL1_ENST00000399154.2_Missense_Mutation_p.T131M	p.T149M			E9PPJ3	E9PPJ3_HUMAN			2	446	+			131						Missense_Mutation	SNP	ENST00000399154.2	37	c.446C>T		.	.	.	.	.	.	.	.	.	.	C	7.612	0.674938	0.14841	.	.	ENSG00000214872	ENST00000457912;ENST00000527972;ENST00000399154	T;T;T	0.02763	4.19;4.19;4.17	4.72	-0.904	0.10530	.	1.746860	0.04105	N	0.313545	T	0.02807	0.0084	L	0.27053	0.805	0.09310	N	1	B	0.16396	0.017	B	0.04013	0.001	T	0.46527	-0.9185	10	0.52906	T	0.07	-0.1371	6.5087	0.22210	0.1214:0.5517:0.0:0.3269	.	149	C9J621	.	M	149;131;131	ENSP00000406485:T149M;ENSP00000432651:T131M;ENSP00000382108:T131M	ENSP00000382108:T131M	T	+	2	0	SMTNL1	57067083	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.692000	0.01918	-0.180000	0.10637	-0.797000	0.03246	ACG		0.522	SMTNL1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_166203		3	5	0	0	0	1	0	3	5				
GRM1	2911	broad.mit.edu	37	6	146350830	146350830	+	Silent	SNP	C	C	T			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr6:146350830C>T	ENST00000282753.1	+	1	412	c.177C>T	c.(175-177)gcC>gcT	p.A59A	GRM1_ENST00000507907.1_Silent_p.A59A|GRM1_ENST00000392299.2_Silent_p.A59A|GRM1_ENST00000361719.2_Silent_p.A59A|GRM1_ENST00000492807.2_Silent_p.A59A|GRM1_ENST00000355289.4_Silent_p.A59A			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	59					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		AGCCTCCGGCCGAGAAAGTGC	0.587																																						ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(175-177)gcC>gcT		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						67.0	65.0	66.0					6																	146350830		2203	4300	6503	SO:0001819	synonymous_variant	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146350830C>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.177C>T	6.37:g.146350830C>T						GRM1_ENST00000361719.2_Silent_p.A59A|GRM1_ENST00000492807.2_Silent_p.A59A|GRM1_ENST00000507907.1_Silent_p.A59A|GRM1_ENST00000282753.1_Silent_p.A59A|GRM1_ENST00000355289.4_Silent_p.A59A	p.A59A			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	2	647	+		Ovarian(120;0.0387)	59					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	ENST00000282753.1	37	c.177C>T	CCDS5209.1																																																																																				0.587	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		5	65	0	0	0	1	0	5	65				
TNRC6B	23112	broad.mit.edu	37	22	40708548	40708548	+	Missense_Mutation	SNP	T	T	G			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr22:40708548T>G	ENST00000454349.2	+	18	4686	c.4475T>G	c.(4474-4476)aTt>aGt	p.I1492S	TNRC6B_ENST00000335727.9_Missense_Mutation_p.I1382S|TNRC6B_ENST00000301923.9_Missense_Mutation_p.I688S|TNRC6B_ENST00000402203.1_Missense_Mutation_p.I688S	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1492	Silencing domain; interaction with CNOT1 and PAN3.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						ATCCAAAACATTGACCCTGAA	0.448																																						ENST00000454349.2																			0				breast(1)	1						c.(4474-4476)aTt>aGt		trinucleotide repeat containing 6B							90.0	89.0	89.0					22																	40708548		2019	4199	6218	SO:0001583	missense	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40708548T>G	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.4475T>G	22.37:g.40708548T>G	ENSP00000401946:p.Ile1492Ser					TNRC6B_ENST00000402203.1_Missense_Mutation_p.I688S|TNRC6B_ENST00000335727.8_Missense_Mutation_p.I1382S|TNRC6B_ENST00000301923.9_Missense_Mutation_p.I688S	p.I1492S	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN			18	4686	+			1492					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	ENST00000454349.2	37	c.4475T>G	CCDS54533.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.86|18.86	3.712923|3.712923	0.68730|0.68730	.|.	.|.	ENSG00000100354|ENSG00000100354	ENST00000301923;ENST00000402203;ENST00000454349;ENST00000400140;ENST00000335727|ENST00000446273	T;T;T;T|.	0.36520|.	1.25;1.25;2.46;2.49|.	5.16|5.16	4.13|4.13	0.48395|0.48395	.|.	0.167085|.	0.51477|.	D|.	0.000088|.	T|T	0.50069|0.50069	0.1594|0.1594	L|L	0.40543|0.40543	1.245|1.245	0.36433|0.36433	D|D	0.865052|0.865052	D;P;P;D|.	0.58970|.	0.978;0.808;0.879;0.984|.	D;B;B;D|.	0.69479|.	0.947;0.281;0.396;0.964|.	T|T	0.53443|0.53443	-0.8438|-0.8438	10|5	0.62326|.	D|.	0.03|.	-6.9396|-6.9396	10.7404|10.7404	0.46149|0.46149	0.0:0.0747:0.0:0.9253|0.0:0.0747:0.0:0.9253	.|.	1492;1382;1382;688|.	Q9UPQ9;A8MYY3;Q9UPQ9-1;Q9UPQ9-2|.	TNR6B_HUMAN;.;.;.|.	S|V	688;688;1492;1382;1382|1178	ENSP00000306759:I688S;ENSP00000384795:I688S;ENSP00000401946:I1492S;ENSP00000338371:I1382S|.	ENSP00000306759:I688S|.	I|L	+|+	2|1	0|2	TNRC6B|TNRC6B	39038494|39038494	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.064000|5.064000	0.64338|0.64338	0.816000|0.816000	0.34421|0.34421	0.533000|0.533000	0.62120|0.62120	ATT|TTG		0.448	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				5	93	0	0	0	1	0	5	93				
WASH6P	653440	broad.mit.edu	37	X	155252868	155252868	+	RNA	SNP	T	T	A			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chrX:155252868T>A	ENST00000461007.1	+	0	1876				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.P304P(5)									TAGCCGAGCCTCTCAAGGCAG	0.632																																						ENST00000285718.7																			5	Substitution - coding silent(5)	p.P304P(5)	kidney(3)|endometrium(2)																																																0							g.chrX:155252868T>A	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155252868T>A						WASH6P_ENST00000461007.1_RNA								0	819	+								A6NGF1|Q8N305	RNA	SNP	ENST00000461007.1	37																																																																																						0.632	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1	NG_008380		3	9	0	0	0	1	0	3	9				
SUV420H1	51111	broad.mit.edu	37	11	67938486	67938486	+	Nonsense_Mutation	SNP	C	C	A			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr11:67938486C>A	ENST00000304363.4	-	9	1326	c.973G>T	c.(973-975)Gaa>Taa	p.E325*	SUV420H1_ENST00000402789.1_Nonsense_Mutation_p.E325*|SUV420H1_ENST00000401547.2_Nonsense_Mutation_p.E325*|SUV420H1_ENST00000405515.1_Nonsense_Mutation_p.E325*|SUV420H1_ENST00000402185.2_Nonsense_Mutation_p.E302*	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	325					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CCTTACCTTTCGCAAGTGTAA	0.343																																						ENST00000304363.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(973-975)Gaa>Taa		suppressor of variegation 4-20 homolog 1 (Drosophila)							79.0	78.0	78.0					11																	67938486		2199	4293	6492	SO:0001587	stop_gained	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67938486C>A	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.973G>T	11.37:g.67938486C>A	ENSP00000305899:p.Glu325*					SUV420H1_ENST00000401547.2_Nonsense_Mutation_p.E325*|SUV420H1_ENST00000405515.1_Nonsense_Mutation_p.E325*|SUV420H1_ENST00000402789.1_Nonsense_Mutation_p.E325*|SUV420H1_ENST00000402185.2_Nonsense_Mutation_p.E302*	p.E325*	NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN			9	1326	-			325					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Nonsense_Mutation	SNP	ENST00000304363.4	37	c.973G>T	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	C	34	5.390072	0.95988	.	.	ENSG00000110066	ENST00000304363;ENST00000401547;ENST00000405515;ENST00000402789;ENST00000402185	.	.	.	5.78	4.87	0.63330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	16.9819	0.86329	0.0:0.8726:0.1274:0.0	.	.	.	.	X	325;325;325;325;302	.	ENSP00000305899:E325X	E	-	1	0	SUV420H1	67695062	1.000000	0.71417	0.999000	0.59377	0.664000	0.39144	7.818000	0.86416	1.439000	0.47511	0.650000	0.86243	GAA		0.343	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		14	43	1	0	1.5739e-10	1	1.71698e-10	14	43				
ATP6V1C2	245973	broad.mit.edu	37	2	10922433	10922433	+	Missense_Mutation	SNP	C	C	T	rs377277646		TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr2:10922433C>T	ENST00000272238.4	+	13	1235	c.1126C>T	c.(1126-1128)Cgt>Tgt	p.R376C	ATP6V1C2_ENST00000381661.3_Missense_Mutation_p.R330C	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	376					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		ATCCACCAAGCGTTTAAGAGA	0.453																																					NSCLC(188;1042 2136 10807 16813 47705)	ENST00000381661.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(988-990)Cgt>Tgt		ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2		C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	99.0	93.0	95.0		1126,988	5.7	0.9	2		95	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ATP6V1C2	NM_001039362.1,NM_144583.3	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	376/428,330/382	10922433	1,13005	2203	4300	6503	SO:0001583	missense	245973				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		g.chr2:10922433C>T	AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"""ATPases / V-type"""	18264	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"""			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.1126C>T	2.37:g.10922433C>T	ENSP00000272238:p.Arg376Cys					ATP6V1C2_ENST00000272238.4_Missense_Mutation_p.R376C	p.R330C	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN		Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)	12	1097	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		376					Q96EL8	Missense_Mutation	SNP	ENST00000272238.4	37	c.988C>T	CCDS42653.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736536	0.69304	0.0	1.16E-4	ENSG00000143882	ENST00000272238;ENST00000381661	T;T	0.47177	0.85;0.85	5.73	5.73	0.89815	.	0.165685	0.47455	D	0.000227	T	0.69070	0.3070	M	0.81802	2.56	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.74023	0.969;0.982	T	0.72707	-0.4212	10	0.87932	D	0	-13.4856	13.3776	0.60747	0.2751:0.7249:0.0:0.0	.	330;376	Q8NEY4-2;Q8NEY4	.;VATC2_HUMAN	C	376;330	ENSP00000272238:R376C;ENSP00000371077:R330C	ENSP00000272238:R376C	R	+	1	0	ATP6V1C2	10839884	0.999000	0.42202	0.937000	0.37676	0.690000	0.40134	3.110000	0.50352	2.698000	0.92095	0.655000	0.94253	CGT		0.453	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323555.1	NM_144583		15	60	0	0	0	1	0	15	60				
FAF1	11124	broad.mit.edu	37	1	51048295	51048295	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr1:51048295G>A	ENST00000396153.2	-	12	1559	c.1108C>T	c.(1108-1110)Cga>Tga	p.R370*	FAF1_ENST00000545823.1_Nonsense_Mutation_p.R128*|FAF1_ENST00000472808.1_5'UTR|FAF1_ENST00000371778.4_Nonsense_Mutation_p.R370*|RNU6-1026P_ENST00000384465.1_RNA	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	370					apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.R370R(1)|p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CTTACATCTCGGGCTTTCACA	0.373																																						ENST00000396153.2																			2	Whole gene deletion(1)|Substitution - coding silent(1)	p.R370R(1)|p.0?(1)	thyroid(1)|lung(1)	breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24						c.(1108-1110)Cga>Tga		Fas (TNFRSF6) associated factor 1							80.0	87.0	85.0					1																	51048295		2203	4300	6503	SO:0001587	stop_gained	11124				apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	g.chr1:51048295G>A	AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"""UBX domain containing"""	3578	protein-coding gene	gene with protein product	"""TNFRSF6-associated factor 1"", ""UBX domain protein 3A"""	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.1108C>T	1.37:g.51048295G>A	ENSP00000379457:p.Arg370*					FAF1_ENST00000545823.1_Nonsense_Mutation_p.R128*|FAF1_ENST00000371778.4_Nonsense_Mutation_p.R370*|FAF1_ENST00000472808.1_5'UTR	p.R370*	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN		GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)	12	1559	-			370					Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Nonsense_Mutation	SNP	ENST00000396153.2	37	c.1108C>T	CCDS554.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.638401	0.87760	.	.	ENSG00000185104	ENST00000396153;ENST00000371778;ENST00000545823;ENST00000371780;ENST00000543607	.	.	.	5.61	3.7	0.42460	.	0.051959	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.7851	13.8954	0.63768	0.0:0.0:0.4366:0.5634	.	.	.	.	X	370;370;128;210;218	.	ENSP00000360843:R370X	R	-	1	2	FAF1	50820883	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.571000	0.60879	0.685000	0.31468	0.655000	0.94253	CGA		0.373	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021807.1	NM_007051		4	78	0	0	0	1	0	4	78				
HOXB3	3213	broad.mit.edu	37	17	46627825	46627825	+	Silent	SNP	C	C	T			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr17:46627825C>T	ENST00000470495.1	-	2	2614	c.1167G>A	c.(1165-1167)gcG>gcA	p.A389A	HOXB3_ENST00000311626.4_Silent_p.A389A|HOXB3_ENST00000485909.2_Silent_p.A257A|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000472863.1_Silent_p.A316A|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000490677.1_Silent_p.A255A|HOXB3_ENST00000476342.1_Silent_p.A389A|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000498678.1_Silent_p.A389A|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Silent_p.A257A|HOXB3_ENST00000489475.1_Silent_p.A316A			P14651	HXB3_HUMAN	homeobox B3	389					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						CCATAGGGGGCGCCCCGTTGT	0.682											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000470495.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						c.(1165-1167)gcG>gcA		homeobox B3							48.0	61.0	57.0					17																	46627825		2197	4295	6492	SO:0001819	synonymous_variant	3213				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46627825C>T		CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"""Homeoboxes / ANTP class : HOXL subclass"""	5114	protein-coding gene	gene with protein product		142966	"""homeo box B3"""	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.1167G>A	17.37:g.46627825C>T			OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	940	HOXB3_ENST00000490677.1_Silent_p.A255A|HOXB3_ENST00000489475.1_Silent_p.A316A|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000311626.4_Silent_p.A389A|HOXB3_ENST00000485909.2_Silent_p.A257A|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000498678.1_Silent_p.A389A|HOXB3_ENST00000476342.1_Silent_p.A389A|HOXB3_ENST00000472863.1_Silent_p.A316A|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Silent_p.A257A	p.A389A			P14651	HXB3_HUMAN			2	2614	-			389					A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Silent	SNP	ENST00000470495.1	37	c.1167G>A	CCDS11528.1																																																																																				0.682	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1			18	45	0	0	0	1	0	18	45				
PDGFD	80310	broad.mit.edu	37	11	103870919	103870919	+	Silent	SNP	G	G	A	rs79967634	byFrequency	TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr11:103870919G>A	ENST00000393158.2	-	2	368	c.189C>T	c.(187-189)taC>taT	p.Y63Y	PDGFD_ENST00000302251.5_Silent_p.Y57Y			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	63	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		GACTCTGCACGTAGCCGTTTC	0.478													G|||	5	0.000998403	0.003	0.0014	5008	,	,		16919	0.0		0.0	False		,,,				2504	0.0					ENST00000302251.5																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23						c.(169-171)taC>taT		platelet derived growth factor D		G	,	12,4392	19.1+/-41.9	0,12,2190	212.0	184.0	193.0		189,171	-3.8	0.0	11	dbSNP_133	193	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	PDGFD	NM_025208.4,NM_033135.3	,	0,12,6489	AA,AG,GG		0.0,0.2725,0.0923	,	63/371,57/365	103870919	12,12990	2202	4299	6501	SO:0001819	synonymous_variant	80310				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity	g.chr11:103870919G>A	AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"""spinal cord derived growth factor B"""	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.189C>T	11.37:g.103870919G>A						PDGFD_ENST00000393158.2_Silent_p.Y63Y	p.Y57Y	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)	2	622	-		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)	63			CUB.		A8K9T6|Q9BWV5	Silent	SNP	ENST00000393158.2	37	c.171C>T	CCDS41703.1																																																																																				0.478	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387231.2	NM_025208		6	98	0	0	0	1	0	6	98				
IL34	146433	broad.mit.edu	37	16	70693984	70693984	+	Missense_Mutation	SNP	C	C	T	rs201277640		TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr16:70693984C>T	ENST00000288098.2	+	6	1006	c.623C>T	c.(622-624)gCg>gTg	p.A208V	IL34_ENST00000566361.1_Missense_Mutation_p.A183V|FLJ00418_ENST00000597002.1_5'Flank|IL34_ENST00000429149.2_Missense_Mutation_p.A208V	NM_001172772.1	NP_001166243.1	Q6ZMJ4	IL34_HUMAN	interleukin 34	208					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	extracellular space (GO:0005615)	macrophage colony-stimulating factor receptor binding (GO:0005157)	p.A208V(1)		breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						TTGCAGTATGCGGCCACCCAG	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		14065	0.0		0.001	False		,,,				2504	0.0					ENST00000429149.2																			1	Substitution - Missense(1)	p.A208V(1)	urinary_tract(1)	breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						c.(622-624)gCg>gTg		interleukin 34		C	VAL/ALA,VAL/ALA,VAL/ALA	1,4395	2.1+/-5.4	0,1,2197	96.0	105.0	102.0		620,623,623	-3.1	0.0	16		102	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	IL34	NM_001172771.1,NM_001172772.1,NM_152456.2	64,64,64	0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign,benign	207/242,208/243,208/243	70693984	2,12994	2198	4300	6498	SO:0001583	missense	146433				positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding	g.chr16:70693984C>T	BC029804	CCDS10895.1	16q22.1	2008-08-01	2008-06-04	2008-06-04	ENSG00000157368	ENSG00000157368		"""Interleukins and interleukin receptors"""	28529	protein-coding gene	gene with protein product		612081	"""chromosome 16 open reading frame 77"""	C16orf77		18467591	Standard	NM_152456		Approved	MGC34647, IL-34	uc002ezh.2	Q6ZMJ4	OTTHUMG00000137581	ENST00000288098.2:c.623C>T	16.37:g.70693984C>T	ENSP00000288098:p.Ala208Val					IL34_ENST00000288098.2_Missense_Mutation_p.A208V|IL34_ENST00000566361.1_Missense_Mutation_p.A183V	p.A208V	NM_001172771.1|NM_152456.2	NP_001166242.1|NP_689669.2	Q6ZMJ4	IL34_HUMAN			7	1178	+			208					B2RC28|B2Z4A8|B2ZC70|Q8N6L2	Missense_Mutation	SNP	ENST00000288098.2	37	c.623C>T	CCDS10895.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	1.250	-0.618797	0.03663	2.27E-4	1.16E-4	ENSG00000157368	ENST00000429149;ENST00000288098	T;T	0.34667	1.35;1.35	4.69	-3.08	0.05347	.	2.218580	0.03059	N	0.155676	T	0.10294	0.0252	N	0.01352	-0.895	0.09310	N	1	B;B	0.17465	0.022;0.022	B;B	0.08055	0.003;0.003	T	0.24261	-1.0165	10	0.05436	T	0.98	-0.0424	4.1458	0.10215	0.4149:0.3737:0.0:0.2114	.	207;208	Q6ZMJ4-2;Q6ZMJ4	.;IL34_HUMAN	V	208	ENSP00000397863:A208V;ENSP00000288098:A208V	ENSP00000288098:A208V	A	+	2	0	IL34	69251485	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.807000	0.01734	-0.832000	0.04251	-1.552000	0.00895	GCG		0.647	IL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268971.3	NM_152456		4	187	0	0	0	1	0	4	187				
LRRC75A	388341	broad.mit.edu	37	17	16344431	16344431	+	IGR	SNP	C	C	G			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr17:16344431C>G	ENST00000409083.3	-	0	2656				C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000365172.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000391079.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000384229.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000475953.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|RP11-138I1.3_ENST00000585048.1_lincRNA|C17orf76-AS1_ENST00000579473.1_RNA	NM_207387.3	NP_997270.2														lung(1)	1						AGCAGCATCTCAGCCCAAGAG	0.473																																						ENST00000475953.1																			0																				112.0	104.0	107.0					17																	16344431		2203	4300	6503	SO:0001628	intergenic_variant	0							g.chr17:16344431C>G																													17.37:g.16344431C>G						C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA		NR_027667.1						0	527	+									RNA	SNP	ENST00000409083.3	37		CCDS11178.2																																																																																				0.473	FAM211A-001	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130461.2			29	79	0	0	0	1	0	29	79				
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529		TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677																																						ENST00000333822.4																			4	Substitution - Missense(4)	p.C95S(4)	endometrium(3)|kidney(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						c.(283-285)Tgc>Agc		keratin associated protein 4-8							7.0	11.0	10.0					17																	39254054		685	1582	2267	SO:0001583	missense	728224					keratin filament		g.chr17:39254054A>T	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.283T>A	17.37:g.39254054A>T	ENSP00000328444:p.Cys95Ser						p.C95S	NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN			1	339	-			95			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	c.283T>A	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	15.18	2.755714	0.49362	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.02280	4.36	3.11	2.01	0.26516	.	0.000000	0.52532	U	0.000067	T	0.04497	0.0123	M	0.83223	2.63	0.25182	N	0.99019	B	0.21606	0.058	B	0.27887	0.084	T	0.21793	-1.0235	10	0.54805	T	0.06	.	6.3859	0.21559	0.8715:0.0:0.1285:0.0	.	95	Q9BYQ9	KRA48_HUMAN	S	95;80	ENSP00000328444:C95S	ENSP00000414561:C80S	C	-	1	0	KRTAP4-8	36507580	0.999000	0.42202	0.393000	0.26258	0.649000	0.38597	3.122000	0.50446	0.404000	0.25506	0.374000	0.22700	TGC		0.677	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		4	34	0	0	0	1	0	4	34				
MTFR1	9650	broad.mit.edu	37	8	66619384	66619384	+	Silent	SNP	C	C	A			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr8:66619384C>A	ENST00000262146.4	+	6	783	c.657C>A	c.(655-657)gcC>gcA	p.A219A	MTFR1_ENST00000458689.2_Silent_p.A186A|MTFR1_ENST00000517944.1_3'UTR	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	219	Necessary and sufficient to promote mitochondrial fission. {ECO:0000250}.				aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			AGAAAAGAGCCAATGCTGGAA	0.473																																						ENST00000262146.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11						c.(655-657)gcC>gcA		mitochondrial fission regulator 1							79.0	79.0	79.0					8																	66619384		2203	4300	6503	SO:0001819	synonymous_variant	9650					mitochondrion|plasma membrane		g.chr8:66619384C>A		CCDS6182.1, CCDS55240.1	8q13.1	2012-11-30							29510	protein-coding gene	gene with protein product	"""likely ortholog of chicken chondrocyte protein with a poly proline region"""					7584026, 7584028, 15389597	Standard	NM_014637		Approved	CHPPR, KIAA0009, FAM54A2	uc003xvn.2	Q15390		ENST00000262146.4:c.657C>A	8.37:g.66619384C>A						MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Silent_p.A186A	p.A219A	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)		6	783	+			219					E7EP84|Q6IB94|Q7Z669|Q86XH5|Q8IVD7	Silent	SNP	ENST00000262146.4	37	c.657C>A	CCDS6182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.550|2.550	-0.304180|-0.304180	0.05495|0.05495	.|.	.|.	ENSG00000066855|ENSG00000066855	ENST00000518800|ENST00000527155	.|.	.|.	.|.	5.49|5.49	2.58|2.58	0.30949|0.30949	.|.	.|.	.|.	.|.	.|.	T|T	0.25531|0.25531	0.0621|0.0621	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.16100|0.16100	-1.0414|-1.0414	4|4	.|.	.|.	.|.	.|.	4.6944|4.6944	0.12797|0.12797	0.1121:0.5843:0.1534:0.1502|0.1121:0.5843:0.1534:0.1502	.|.	.|.	.|.	.|.	Q|K	177|33	.|.	.|.	P|Q	+|+	2|1	0|0	MTFR1|MTFR1	66781938|66781938	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.451000|0.451000	0.32288|0.32288	-0.633000|-0.633000	0.05483|0.05483	1.315000|1.315000	0.45114|0.45114	0.650000|0.650000	0.86243|0.86243	CCA|CAA		0.473	MTFR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378894.1	NM_014637		4	73	1	0	0.150653	1	0.153859	4	73				
HHAT	55733	broad.mit.edu	37	1	210637915	210637915	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr1:210637915C>T	ENST00000367010.1	+	8	1150	c.923C>T	c.(922-924)gCt>gTt	p.A308V	HHAT_ENST00000261458.3_Missense_Mutation_p.A308V|HHAT_ENST00000367009.1_5'UTR|HHAT_ENST00000537898.1_Missense_Mutation_p.A243V|HHAT_ENST00000545154.1_Missense_Mutation_p.A309V|HHAT_ENST00000541565.1_Missense_Mutation_p.A171V|HHAT_ENST00000308852.6_Missense_Mutation_p.A263V|HHAT_ENST00000413764.2_Missense_Mutation_p.A308V|HHAT_ENST00000545781.1_Missense_Mutation_p.A245V|HHAT_ENST00000391905.3_Missense_Mutation_p.A308V	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	308					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GGCGTGCCTGCTCTGCTCATG	0.577																																						ENST00000367010.1																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(922-924)gCt>gTt		hedgehog acyltransferase							195.0	183.0	187.0					1																	210637915		2203	4300	6503	SO:0001583	missense	55733				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210637915C>T	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.923C>T	1.37:g.210637915C>T	ENSP00000355977:p.Ala308Val					HHAT_ENST00000308852.6_Missense_Mutation_p.A263V|HHAT_ENST00000391905.3_Missense_Mutation_p.A308V|HHAT_ENST00000413764.2_Missense_Mutation_p.A308V|HHAT_ENST00000545781.1_Missense_Mutation_p.A245V|HHAT_ENST00000545154.1_Missense_Mutation_p.A309V|HHAT_ENST00000537898.1_Missense_Mutation_p.A243V|HHAT_ENST00000367009.1_5'UTR|HHAT_ENST00000541565.1_Missense_Mutation_p.A171V|HHAT_ENST00000261458.3_Missense_Mutation_p.A308V	p.A308V	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	8	1150	+			308					B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Missense_Mutation	SNP	ENST00000367010.1	37	c.923C>T	CCDS1495.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.864610	0.71949	.	.	ENSG00000054392	ENST00000413764;ENST00000541565;ENST00000545154;ENST00000537898;ENST00000391905;ENST00000545781;ENST00000261458;ENST00000308852;ENST00000367010;ENST00000426968	T;T;T;T;T;T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55	5.42	5.42	0.78866	.	0.114839	0.64402	D	0.000013	T	0.81235	0.4780	M	0.69823	2.125	0.37078	D	0.898862	D;P;D;D;D	0.65815	0.991;0.921;0.995;0.97;0.986	P;P;P;P;P	0.60949	0.881;0.547;0.867;0.675;0.742	T	0.81315	-0.0988	10	0.27785	T	0.31	-10.8376	17.987	0.89158	0.0:1.0:0.0:0.0	.	263;309;171;243;308	B7Z2U8;F5H444;B7Z4D5;B7Z5I1;Q5VTY9	.;.;.;.;HHAT_HUMAN	V	308;171;309;243;308;245;308;263;308;180	ENSP00000416845:A308V;ENSP00000444995:A171V;ENSP00000438468:A309V;ENSP00000442625:A243V;ENSP00000375773:A308V;ENSP00000439229:A245V;ENSP00000261458:A308V;ENSP00000308628:A263V;ENSP00000355977:A308V;ENSP00000413399:A180V	ENSP00000261458:A308V	A	+	2	0	HHAT	208704538	1.000000	0.71417	0.996000	0.52242	0.256000	0.26092	2.639000	0.46570	2.533000	0.85409	0.555000	0.69702	GCT		0.577	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		24	121	0	0	0	1	0	24	121				
DCAF10	79269	broad.mit.edu	37	9	37801316	37801316	+	Silent	SNP	C	C	G			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr9:37801316C>G	ENST00000377724.3	+	1	818	c.453C>G	c.(451-453)ctC>ctG	p.L151L	RP11-613M10.9_ENST00000540557.1_Intron|DCAF10_ENST00000242323.7_Silent_p.L151L	NM_024345.3	NP_077321.3	Q5QP82	DCA10_HUMAN	DDB1 and CUL4 associated factor 10	151					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						TGACTAGCCTCTACGGTTCCA	0.682																																						ENST00000242323.7																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						c.(451-453)ctC>ctG		DDB1 and CUL4 associated factor 10							32.0	17.0	22.0					9																	37801316		2097	4114	6211	SO:0001819	synonymous_variant	79269					CUL4 RING ubiquitin ligase complex		g.chr9:37801316C>G	BC003520	CCDS6613.2, CCDS75835.1	9p13.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000122741	ENSG00000122741		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	23686	protein-coding gene	gene with protein product			"""WD repeat domain 32"""	WDR32			Standard	NM_001286810		Approved	MGC10765, FLJ23201	uc004aao.3	Q5QP82	OTTHUMG00000019934	ENST00000377724.3:c.453C>G	9.37:g.37801316C>G						RP11-613M10.9_ENST00000540557.1_Intron|DCAF10_ENST00000377724.3_Silent_p.L151L	p.L151L			Q5QP82	DCA10_HUMAN			1	527	+			151					A4VCJ5|Q32NE2|Q8N2Q5|Q96ET5|Q9BTQ5|Q9H5P6	Silent	SNP	ENST00000377724.3	37	c.453C>G	CCDS6613.2																																																																																				0.682	DCAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052485.2	NM_024345		4	9	0	0	0	1	0	4	9				
AC073321.4	0	broad.mit.edu	37	2	217475009	217475010	+	lincRNA	DEL	TG	TG	-	rs370329361		TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr2:217475009_217475010delTG	ENST00000441803.1	+	0	195																											tttttttttttGAAAGAAAGGC	0.391																																						ENST00000441803.1																			0																																																			0							g.chr2:217475009_217475010delTG																													2.37:g.217475009_217475010delTG														0	195	+									RNA	DEL	ENST00000441803.1	37																																																																																						0.391	AC073321.4-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000339548.2			2	4						2	4	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100369720	100369721	+	RNA	INS	-	-	T			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr7:100369720_100369721insT	ENST00000348028.3	+	0	5590				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000449052.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			cctctaaattcttttttttttt	0.535																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)																																						7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100369720_100369721insT	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100369731_100369731dupT						ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	5573	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	INS	ENST00000348028.3	37																																																																																						0.535	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		4	3						4	3	---	---	---	---
ACTN3	89	broad.mit.edu	37	11	66321758	66321761	+	RNA	DEL	TACC	TACC	-	rs59749879|rs147846428|rs370689871|rs10896127		TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr11:66321758_66321761delTACC	ENST00000502692.1	+	0	714				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly (GO:0048041)|muscle filament sliding (GO:0030049)|regulation of apoptotic process (GO:0042981)	actin filament (GO:0005884)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						ctacaaaaaataccaaaaaaaaaa	0.5																																						ENST00000513398.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10								actinin, alpha 3 (gene/pseudogene)																																						89				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	g.chr11:66321758_66321761delTACC	M86407		11q13.2	2013-10-02	2012-10-05		ENSG00000248746	ENSG00000248746			165	protein-coding gene	gene with protein product		102574	"""actinin, alpha 3"""			1339456	Standard	NM_001104		Approved		uc031qbp.1	Q08043	OTTHUMG00000160815		11.37:g.66321758_66321761delTACC						ACTN3_ENST00000502692.1_RNA		NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN			0	566	+								A6NP77|Q4KKV2	RNA	DEL	ENST00000502692.1	37																																																																																						0.500	ACTN3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000362465.1	NM_001104		2	4						2	4	---	---	---	---
TMPRSS5	80975	broad.mit.edu	37	11	113560621	113560621	+	Frame_Shift_Del	DEL	G	G	-			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr11:113560621delG	ENST00000299882.5	-	12	1373	c.1225delC	c.(1225-1227)ctafs	p.L409fs	TMPRSS5_ENST00000545579.1_Frame_Shift_Del_p.L400fs|TMPRSS5_ENST00000536856.1_Intron|TMPRSS5_ENST00000544476.1_Frame_Shift_Del_p.L296fs|TMPRSS5_ENST00000545265.1_5'Flank|TMPRSS5_ENST00000544634.1_Frame_Shift_Del_p.L340fs|TMPRSS5_ENST00000540540.1_Frame_Shift_Del_p.L150fs|TMPRSS5_ENST00000538955.1_Frame_Shift_Del_p.L365fs	NM_030770.2	NP_110397.2	Q9H3S3	TMPS5_HUMAN	transmembrane protease, serine 5	409	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	peptidase activity (GO:0008233)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)		GGGCACACTAGGGGGCCCCCG	0.607																																						ENST00000299882.5																			0				endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						c.(1225-1227)tafs		transmembrane protease, serine 5							13.0	14.0	14.0					11																	113560621		1879	4097	5976	SO:0001589	frameshift_variant	80975				proteolysis	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:113560621delG	AB028140	CCDS44735.1, CCDS73390.1, CCDS73391.1, CCDS73392.1, CCDS73393.1	11q	2010-04-13	2008-07-31		ENSG00000166682	ENSG00000166682		"""Serine peptidases / Transmembrane"""	14908	protein-coding gene	gene with protein product	"""spinesin"""	606751					Standard	NM_030770		Approved	MGC141886, MGC148044	uc001poc.4	Q9H3S3	OTTHUMG00000168186	ENST00000299882.5:c.1225delC	11.37:g.113560621delG	ENSP00000299882:p.Leu409fs					TMPRSS5_ENST00000544634.1_Frame_Shift_Del_p.L340fs|TMPRSS5_ENST00000544476.1_Frame_Shift_Del_p.L296fs|TMPRSS5_ENST00000540540.1_Frame_Shift_Del_p.L150fs|TMPRSS5_ENST00000545579.1_Frame_Shift_Del_p.L400fs|TMPRSS5_ENST00000538955.1_Frame_Shift_Del_p.L365fs|TMPRSS5_ENST00000536856.1_Intron	p.L409fs	NM_030770.2	NP_110397.2	Q9H3S3	TMPS5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)	12	1373	-		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)	409			Peptidase S1.			Frame_Shift_Del	DEL	ENST00000299882.5	37	c.1225delC	CCDS44735.1																																																																																				0.607	TMPRSS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398652.1	NM_030770		2	4						2	4	---	---	---	---
RP11-1166P10.6	0	broad.mit.edu	37	16	32095553	32095553	+	RNA	DEL	G	G	-			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr16:32095553delG	ENST00000566806.1	-	0	499																											CTGGGGCCCCGAGGGAGATGT	0.642																																						ENST00000566806.1																			0																																																			0							g.chr16:32095553delG																													16.37:g.32095553delG														0	499	-									RNA	DEL	ENST00000566806.1	37																																																																																						0.642	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			2	4						2	4	---	---	---	---
LONRF3	79836	broad.mit.edu	37	X	118109397	118109399	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chrX:118109397_118109399delGCC	ENST00000371628.3	+	1	685_687	c.654_656delGCC	c.(652-657)cagccg>cag	p.P222del	LONRF3_ENST00000304778.7_In_Frame_Del_p.P222del|LONRF3_ENST00000422289.2_5'Flank	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	222							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CTGGGCAGCAGCCGCCGCCGCCG	0.744																																						ENST00000365713.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						c.(652-657)cag>ca		LON peptidase N-terminal domain and ring finger 3			,	39,2816		8,15,8,1254,293					,	-4.0	0.2			4	74,4741		6,36,26,1797,1111	no	coding,coding	LONRF3	NM_024778.4,NM_001031855.1	,	14,51,34,3051,1404	A1A1,A1R,A1,RR,R		1.5369,1.366,1.4733	,	,		113,7557				SO:0001651	inframe_deletion	79836				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	g.chrX:118109397_118109399delGCC	AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"""RING-type (C3HC4) zinc fingers"""	21152	protein-coding gene	gene with protein product			"""ring finger protein 127"""	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.654_656delGCC	X.37:g.118109406_118109408delGCC	ENSP00000360690:p.Pro222del					LONRF3_ENST00000371628.3_In_Frame_Del_p.QP218del|LONRF3_ENST00000304778.7_In_Frame_Del_p.QP218del	p.QP218del			Q496Y0	LONF3_HUMAN			1	817_819	+			218					Q5JPN6|Q8NB00|Q9H647	In_Frame_Del	DEL	ENST00000371628.3	37	c.654_656delGCC	CCDS35374.1																																																																																				0.744	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2	NM_024778		3	5						3	5	---	---	---	---
