#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
OR13F1	138805	broad.mit.edu	37	9	107266930	107266930	+	Silent	SNP	C	C	T			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr9:107266930C>T	ENST00000334726.2	+	1	476	c.387C>T	c.(385-387)ccC>ccT	p.P129P		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCTGCAACCCCCTGAGATACC	0.552																																						ENST00000334726.2																			0				endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(385-387)ccC>ccT		olfactory receptor, family 13, subfamily F, member 1							87.0	77.0	80.0					9																	107266930		2203	4300	6503	SO:0001819	synonymous_variant	138805				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107266930C>T		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"""GPCR / Class A : Olfactory receptors"""	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.387C>T	9.37:g.107266930C>T							p.P129P	NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN			1	476	+			129					Q6IF50	Silent	SNP	ENST00000334726.2	37	c.387C>T	CCDS35087.1																																																																																				0.552	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1			61	65	0	0	0	1	0	61	65				
GSG2	83903	broad.mit.edu	37	17	3627984	3627984	+	Missense_Mutation	SNP	G	G	A	rs372523388		TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr17:3627984G>A	ENST00000325418.4	+	1	774	c.755G>A	c.(754-756)gGa>gAa	p.G252E	ITGAE_ENST00000263087.4_Intron|CTD-3195I5.3_ENST00000571741.1_RNA|ITGAE_ENST00000571185.1_5'UTR	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	252					histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										ATGAACTCAGGAACCCCTGAG	0.552																																						ENST00000325418.4																			0											c.(754-756)gGa>gAa		germ cell associated 2 (haspin)							67.0	79.0	75.0					17																	3627984		2203	4300	6503	SO:0001583	missense	83903				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr17:3627984G>A	AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.755G>A	17.37:g.3627984G>A	ENSP00000325290:p.Gly252Glu					ITGAE_ENST00000571185.1_5'UTR|ITGAE_ENST00000263087.4_Intron	p.G252E	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN			1	774	+			252					Q5U5K3|Q96MN1|Q9BXS7	Missense_Mutation	SNP	ENST00000325418.4	37	c.755G>A	CCDS11036.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.380959	0.61845	.	.	ENSG00000177602	ENST00000325418	T	0.06294	3.32	3.95	2.98	0.34508	.	0.181712	0.26832	N	0.022262	T	0.04724	0.0128	L	0.27053	0.805	0.09310	N	1	P	0.37781	0.608	B	0.33568	0.166	T	0.34254	-0.9836	10	0.87932	D	0	-11.9535	9.3281	0.38005	0.1048:0.0:0.8952:0.0	.	252	Q8TF76	HASP_HUMAN	E	252	ENSP00000325290:G252E	ENSP00000325290:G252E	G	+	2	0	GSG2	3574733	0.005000	0.15991	0.037000	0.18230	0.059000	0.15707	1.311000	0.33562	1.222000	0.43521	0.655000	0.94253	GGA		0.552	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1	NM_031965		63	76	0	0	0	1	0	63	76				
MSLN	10232	broad.mit.edu	37	16	815715	815715	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr16:815715C>T	ENST00000382862.3	+	10	915	c.820C>T	c.(820-822)Cgc>Tgc	p.R274C	MSLN_ENST00000563941.1_Missense_Mutation_p.R274C|MSLN_ENST00000566549.1_Missense_Mutation_p.R274C|MSLN_ENST00000545450.2_Missense_Mutation_p.R274C	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	274	Required for megakaryocyte-potentiating factor activity.				cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GTGGCGGCAACGCTCCTCTCG	0.711																																						ENST00000566549.1																			0				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20						c.(820-822)Cgc>Tgc		mesothelin							22.0	26.0	25.0					16																	815715		2177	4282	6459	SO:0001583	missense	10232				cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane		g.chr16:815715C>T	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.820C>T	16.37:g.815715C>T	ENSP00000372313:p.Arg274Cys					MSLN_ENST00000545450.2_Missense_Mutation_p.R274C|MSLN_ENST00000382862.3_Missense_Mutation_p.R274C|MSLN_ENST00000563941.1_Missense_Mutation_p.R274C	p.R274C			Q13421	MSLN_HUMAN			10	1237	+		Hepatocellular(780;0.00335)	274			Required for megakaryocyte-potentiating factor activity.		D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Missense_Mutation	SNP	ENST00000382862.3	37	c.820C>T	CCDS32356.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.783791	0.49891	.	.	ENSG00000102854	ENST00000446427;ENST00000445361;ENST00000545450;ENST00000382862	T;T	0.12984	2.63;2.63	4.67	1.52	0.23074	.	0.955851	0.08693	U	0.907556	T	0.24044	0.0582	L	0.48642	1.525	0.09310	N	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	P;P;P;P	0.62382	0.83;0.894;0.901;0.83	T	0.19353	-1.0308	10	0.36615	T	0.2	-1.988	7.0165	0.24890	0.0:0.5431:0.3598:0.0971	.	273;274;274;274	Q13421-4;Q13421;Q13421-2;Q13421-3	.;MSLN_HUMAN;.;.	C	274	ENSP00000442965:R274C;ENSP00000372313:R274C	ENSP00000372313:R274C	R	+	1	0	MSLN	755716	0.001000	0.12720	0.001000	0.08648	0.017000	0.09413	0.327000	0.19663	0.129000	0.18514	0.551000	0.68910	CGC		0.711	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2			29	31	0	0	0	1	0	29	31				
AKAP1	8165	broad.mit.edu	37	17	55183906	55183906	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr17:55183906G>A	ENST00000337714.3	+	2	1314	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	AKAP1_ENST00000539273.1_Missense_Mutation_p.E361K|AKAP1_ENST00000314126.3_Missense_Mutation_p.E361K|AKAP1_ENST00000572557.1_Missense_Mutation_p.E361K|AKAP1_ENST00000571629.1_Missense_Mutation_p.E361K	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	361					blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					AGAAGCAACCGAACAGGTGCT	0.537																																						ENST00000337714.3																			0				endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14						c.(1081-1083)Gaa>Aaa		A kinase (PRKA) anchor protein 1							85.0	91.0	89.0					17																	55183906		2203	4300	6503	SO:0001583	missense	8165				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding	g.chr17:55183906G>A	X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Tudor domain containing"""	367	protein-coding gene	gene with protein product	"""protein kinase anchoring protein 1"", ""dual specificity A-kinase-anchoring protein 1"", ""protein phosphatase 1, regulatory subunit 43"", ""tudor domain containing 17"""	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.1081G>A	17.37:g.55183906G>A	ENSP00000337736:p.Glu361Lys					AKAP1_ENST00000572557.1_Missense_Mutation_p.E361K|AKAP1_ENST00000314126.3_Missense_Mutation_p.E361K|AKAP1_ENST00000571629.1_Missense_Mutation_p.E361K|AKAP1_ENST00000539273.1_Missense_Mutation_p.E361K	p.E361K	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN			2	1314	+	Breast(9;5.46e-08)		361					A8K8Q1|D3DTZ0|Q13320|Q9BW14	Missense_Mutation	SNP	ENST00000337714.3	37	c.1081G>A	CCDS11594.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014748	0.75161	.	.	ENSG00000121057	ENST00000337714;ENST00000314126;ENST00000427138;ENST00000539273	T;T;T	0.42900	2.05;0.96;2.05	5.94	5.94	0.96194	.	0.104499	0.64402	D	0.000003	T	0.65260	0.2674	M	0.72894	2.215	0.41280	D	0.986905	D	0.89917	1.0	D	0.80764	0.994	T	0.66212	-0.5980	10	0.66056	D	0.02	-22.5362	17.5151	0.87771	0.0:0.0:1.0:0.0	.	361	Q92667	AKAP1_HUMAN	K	361;361;403;361	ENSP00000337736:E361K;ENSP00000314075:E361K;ENSP00000443139:E361K	ENSP00000314075:E361K	E	+	1	0	AKAP1	52538905	1.000000	0.71417	0.966000	0.40874	0.251000	0.25915	4.955000	0.63638	2.816000	0.96949	0.561000	0.74099	GAA		0.537	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1			4	143	0	0	0	1	0	4	143				
FAT3	120114	broad.mit.edu	37	11	92087443	92087443	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr11:92087443G>A	ENST00000298047.6	+	1	2182	c.2165G>A	c.(2164-2166)gGa>gAa	p.G722E	FAT3_ENST00000525166.1_Missense_Mutation_p.G572E|FAT3_ENST00000409404.2_Missense_Mutation_p.G722E|FAT3_ENST00000541502.1_Missense_Mutation_p.G722E			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	722					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AATAGACAGGGACCATATTTT	0.398										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(2164-2166)gGa>gAa		FAT atypical cadherin 3							165.0	168.0	167.0					11																	92087443		1854	4116	5970	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92087443G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.2165G>A	11.37:g.92087443G>A	ENSP00000298047:p.Gly722Glu	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.G722E|FAT3_ENST00000525166.1_Missense_Mutation_p.G572E|FAT3_ENST00000541502.1_Missense_Mutation_p.G722E	p.G722E			Q8TDW7	FAT3_HUMAN			1	2182	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	722					B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.2165G>A		.	.	.	.	.	.	.	.	.	.	G	12.26	1.885862	0.33348	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.47	5.47	0.80525	.	.	.	.	.	T	0.25568	0.0622	N	0.14661	0.345	0.39029	D	0.959894	B	0.27679	0.185	B	0.21360	0.034	T	0.12682	-1.0538	9	0.23302	T	0.38	.	13.3529	0.60611	0.0:0.2656:0.7344:0.0	.	722	Q8TDW7-3	.	E	722;722;722;572	ENSP00000298047:G722E;ENSP00000387040:G722E;ENSP00000443786:G722E;ENSP00000432586:G572E	ENSP00000298047:G722E	G	+	2	0	FAT3	91727091	1.000000	0.71417	0.995000	0.50966	0.970000	0.65996	6.803000	0.75180	2.567000	0.86603	0.467000	0.42956	GGA		0.398	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		116	181	0	0	0	1	0	116	181				
HIST1H2BA	255626	broad.mit.edu	37	6	25727377	25727377	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr6:25727377C>T	ENST00000274764.2	+	1	241	c.241C>T	c.(241-243)Cgt>Tgt	p.R81C	HIST1H2AA_ENST00000297012.3_5'Flank	NM_170610.2	NP_733759.1	Q96A08	H2B1A_HUMAN	histone cluster 1, H2ba	81					cellular response to acid chemical (GO:0071229)|chromatin organization (GO:0006325)|inflammatory response (GO:0006954)|mononuclear cell migration (GO:0071674)|nucleosome assembly (GO:0006334)|nucleosome disassembly (GO:0006337)|plasminogen activation (GO:0031639)|positive regulation of binding (GO:0051099)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	extrinsic component of plasma membrane (GO:0019897)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)	2						CGAGGCATCACGTTTGGCTCA	0.507																																						ENST00000274764.2																			0				breast(1)|kidney(1)	2						c.(241-243)Cgt>Tgt		histone cluster 1, H2ba							383.0	283.0	317.0					6																	25727377		2203	4300	6503	SO:0001583	missense	255626				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:25727377C>T	AF397301	CCDS4563.1	6p22.2	2011-01-27	2006-10-11		ENSG00000146047	ENSG00000146047		"""Histones / Replication-dependent"""	18730	protein-coding gene	gene with protein product		609904	"""H2B histone family, member U, (testis-specific)"", ""histone 1, H2ba"""			12408966, 12213818	Standard	NM_170610		Approved	bA317E16.3, STBP, TSH2B, H2BFU	uc003nfd.3	Q96A08	OTTHUMG00000014408	ENST00000274764.2:c.241C>T	6.37:g.25727377C>T	ENSP00000274764:p.Arg81Cys						p.R81C	NM_170610.2	NP_733759.1	Q96A08	H2B1A_HUMAN			1	241	+			81					B2R544|Q6NZ98|Q6NZA0|Q6NZA1	Missense_Mutation	SNP	ENST00000274764.2	37	c.241C>T	CCDS4563.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.601738	0.28534	.	.	ENSG00000146047	ENST00000274764	T	0.32753	1.44	3.02	3.02	0.34903	Histone-fold (2);Histone core (1);	0.000000	0.64402	D	0.000001	T	0.55353	0.1915	M	0.92412	3.305	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66400	-0.5933	10	0.52906	T	0.07	.	13.8007	0.63199	0.0:1.0:0.0:0.0	.	81	Q96A08	H2B1A_HUMAN	C	81	ENSP00000274764:R81C	ENSP00000274764:R81C	R	+	1	0	HIST1H2BA	25835356	1.000000	0.71417	0.011000	0.14972	0.004000	0.04260	7.474000	0.81024	2.000000	0.58554	0.549000	0.68633	CGT		0.507	HIST1H2BA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040066.1	NM_170610		4	156	0	0	0	1	0	4	156				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		5	191	0	0	0	1	0	5	191				
PHRF1	57661	broad.mit.edu	37	11	587410	587410	+	Silent	SNP	G	G	A			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr11:587410G>A	ENST00000264555.5	+	4	494	c.366G>A	c.(364-366)acG>acA	p.T122T	PHRF1_ENST00000533464.1_Silent_p.T118T|PHRF1_ENST00000416188.2_Silent_p.T122T|PHRF1_ENST00000413872.2_Silent_p.T121T	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	122					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CCGTGGGGACGCCGGAGAACT	0.557																																						ENST00000264555.5																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(364-366)acG>acA		PHD and ring finger domains 1							121.0	130.0	127.0					11																	587410		2106	4198	6304	SO:0001819	synonymous_variant	57661						RNA polymerase binding|zinc ion binding	g.chr11:587410G>A	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.366G>A	11.37:g.587410G>A						PHRF1_ENST00000533464.1_Silent_p.T118T|PHRF1_ENST00000416188.2_Silent_p.T122T|PHRF1_ENST00000413872.2_Silent_p.T121T	p.T122T	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN			4	494	+			122					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Silent	SNP	ENST00000264555.5	37	c.366G>A																																																																																					0.557	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		60	108	0	0	0	1	0	60	108				
GPR83	10888	broad.mit.edu	37	11	94113633	94113633	+	Silent	SNP	C	C	T			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr11:94113633C>T	ENST00000243673.2	-	4	1125	c.954G>A	c.(952-954)aaG>aaA	p.K318K	GPR83_ENST00000539203.2_Silent_p.K276K	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	318					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGCGGATGACCTTGCTGGACA	0.517																																						ENST00000243673.2																			0				NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19						c.(952-954)aaG>aaA		G protein-coupled receptor 83							155.0	121.0	132.0					11																	94113633		2201	4298	6499	SO:0001819	synonymous_variant	10888					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr11:94113633C>T	AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"""GPCR / Class A : Orphans"""	4523	protein-coding gene	gene with protein product		605569	"""G protein-coupled receptor 72"""	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.954G>A	11.37:g.94113633C>T						GPR83_ENST00000539203.2_Silent_p.K276K	p.K318K	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN			4	1125	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	318					B0M0K5|Q6NWR4|Q9P1Y8	Silent	SNP	ENST00000243673.2	37	c.954G>A	CCDS8297.1																																																																																				0.517	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	NM_016540		9	194	0	0	0	1	0	9	194				
RGS6	9628	broad.mit.edu	37	14	72431532	72431532	+	Silent	SNP	A	A	G			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr14:72431532A>G	ENST00000553530.1	+	2	231	c.24A>G	c.(22-24)caA>caG	p.Q8Q	RGS6_ENST00000406236.4_Silent_p.Q8Q|RGS6_ENST00000343854.6_Silent_p.Q8Q|RGS6_ENST00000355512.6_Silent_p.Q8Q|RGS6_ENST00000407322.4_Silent_p.Q8Q|RGS6_ENST00000553525.1_Silent_p.Q8Q|RGS6_ENST00000404301.2_Silent_p.Q8Q|RGS6_ENST00000556437.1_Silent_p.Q8Q|RGS6_ENST00000555571.1_Silent_p.Q8Q|RGS6_ENST00000402788.2_Silent_p.Q8Q	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	8					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CCGGGGATCAAAGAGCAGTGG	0.478																																					Ovarian(143;1926 2468 21071 48641)	ENST00000553530.1																			0				endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(22-24)caA>caG		regulator of G-protein signaling 6							99.0	100.0	100.0					14																	72431532		2203	4300	6503	SO:0001819	synonymous_variant	9628				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr14:72431532A>G	AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"""Regulators of G-protein signaling"""	10002	protein-coding gene	gene with protein product		603894	"""regulator of G-protein signalling 6"""			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.24A>G	14.37:g.72431532A>G						RGS6_ENST00000355512.6_Silent_p.Q8Q|RGS6_ENST00000404301.2_Silent_p.Q8Q|RGS6_ENST00000553525.1_Silent_p.Q8Q|RGS6_ENST00000406236.4_Silent_p.Q8Q|RGS6_ENST00000402788.2_Silent_p.Q8Q|RGS6_ENST00000407322.4_Silent_p.Q8Q|RGS6_ENST00000556437.1_Silent_p.Q8Q|RGS6_ENST00000343854.6_Silent_p.Q8Q|RGS6_ENST00000555571.1_Silent_p.Q8Q	p.Q8Q	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN		all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)	2	231	+			8					C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Silent	SNP	ENST00000553530.1	37	c.24A>G	CCDS9808.1																																																																																				0.478	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413033.2			50	84	0	0	0	1	0	50	84				
NCOR2	9612	broad.mit.edu	37	12	124887093	124887093	+	Silent	SNP	C	C	T			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr12:124887093C>T	ENST00000405201.1	-	14	1497	c.1497G>A	c.(1495-1497)caG>caA	p.Q499Q	NCOR2_ENST00000404121.2_Silent_p.Q69Q|NCOR2_ENST00000404621.1_Silent_p.Q498Q|NCOR2_ENST00000429285.2_Silent_p.Q498Q|NCOR2_ENST00000356219.3_Silent_p.Q499Q|NCOR2_ENST00000397355.1_Silent_p.Q499Q			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	499	Poly-Gln.				cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)	p.Q499Q(9)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		gctgctgctgctgttgttgct	0.617																																						ENST00000356219.3																			9	Substitution - coding silent(9)	p.Q499Q(9)	endometrium(4)|large_intestine(3)|kidney(2)	breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1495-1497)caG>caA		nuclear receptor corepressor 2							9.0	10.0	10.0					12																	124887093		2051	4183	6234	SO:0001819	synonymous_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124887093C>T	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1497G>A	12.37:g.124887093C>T						NCOR2_ENST00000404621.1_Silent_p.Q498Q|NCOR2_ENST00000404121.2_Silent_p.Q69Q|NCOR2_ENST00000429285.2_Silent_p.Q498Q|NCOR2_ENST00000405201.1_Silent_p.Q499Q|NCOR2_ENST00000397355.1_Silent_p.Q499Q	p.Q499Q	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	15	1652	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		499			Poly-Gln.		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	c.1497G>A	CCDS41858.2																																																																																				0.617	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		3	9	0	0	0	1	0	3	9				
U2AF2	11338	broad.mit.edu	37	19	56181020	56181020	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr19:56181020C>T	ENST00000308924.4	+	11	1295	c.1255C>T	c.(1255-1257)Cgg>Tgg	p.R419W	CTD-2537I9.12_ENST00000585940.1_RNA|U2AF2_ENST00000450554.2_Missense_Mutation_p.R415W|CTD-2537I9.12_ENST00000589456.1_RNA|U2AF2_ENST00000590551.1_Missense_Mutation_p.R251W|CTD-2537I9.13_ENST00000592252.1_RNA			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	419	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CGAGATCCCCCGGCCTGTGGA	0.657																																						ENST00000450554.2																			0				biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21						c.(1243-1245)Cgg>Tgg		U2 small nuclear RNA auxiliary factor 2							122.0	110.0	114.0					19																	56181020		2203	4300	6503	SO:0001583	missense	11338				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding	g.chr19:56181020C>T	BC008740	CCDS12933.1, CCDS46197.1	19q13.43	2014-09-17	2006-04-11			ENSG00000063244		"""RNA binding motif (RRM) containing"""	23156	protein-coding gene	gene with protein product	"""U2 small nuclear ribonucleoprotein auxiliary factor (65kD)"", ""splicing factor U2AF 65 kD subunit"", ""U2 snRNP auxiliary factor large subunit"""	191318	"""U2 (RNU2) small nuclear RNA auxiliary factor 2"""			1538748	Standard	XM_006722994		Approved	U2AF65	uc002qlu.3	P26368		ENST00000308924.4:c.1255C>T	19.37:g.56181020C>T	ENSP00000307863:p.Arg419Trp					CTD-2537I9.12_ENST00000585940.1_RNA|U2AF2_ENST00000590551.1_Missense_Mutation_p.R251W|U2AF2_ENST00000308924.4_Missense_Mutation_p.R419W|CTD-2537I9.12_ENST00000589456.1_RNA	p.R415W	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	11	2202	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	419			RRM 3.		Q96HC5	Missense_Mutation	SNP	ENST00000308924.4	37	c.1243C>T	CCDS12933.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574250	0.86542	.	.	ENSG00000063244	ENST00000308924;ENST00000450554	T;T	0.18016	2.24;2.24	4.19	2.06	0.26882	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000001	T	0.50394	0.1613	H	0.96398	3.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.58544	-0.7618	10	0.87932	D	0	-21.9246	9.2102	0.37313	0.0:0.8169:0.0:0.1831	.	419;415	P26368;P26368-2	U2AF2_HUMAN;.	W	419;415	ENSP00000307863:R419W;ENSP00000388475:R415W	ENSP00000307863:R419W	R	+	1	2	U2AF2	60872832	1.000000	0.71417	0.955000	0.39395	0.963000	0.63663	5.360000	0.66086	0.550000	0.28991	0.655000	0.94253	CGG		0.657	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453599.1	NM_007279		27	17	0	0	0	1	0	27	17				
TRA2B	6434	broad.mit.edu	37	3	185637272	185637272	+	Silent	SNP	T	T	A			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr3:185637272T>A	ENST00000453386.2	-	7	1010	c.735A>T	c.(733-735)ggA>ggT	p.G245G	TRA2B_ENST00000382191.4_Silent_p.G145G	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	245	Arg/Ser-rich (RS2 domain).				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						ctcctcctcctccacctcctc	0.393																																						ENST00000453386.2																			0				breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						c.(733-735)ggA>ggT		transformer 2 beta homolog (Drosophila)							115.0	101.0	106.0					3																	185637272		2203	4300	6503	SO:0001819	synonymous_variant	6434				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding	g.chr3:185637272T>A	AF057159	CCDS33905.1, CCDS58872.1	3q26.2-q27	2014-06-13	2009-02-27	2009-02-27	ENSG00000136527	ENSG00000136527		"""RNA binding motif (RRM) containing"""	10781	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 156"""	602719	"""splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila)"""	SFRS10		9790768	Standard	NM_004593		Approved	Htra2-beta, PPP1R156	uc003fpv.3	P62995	OTTHUMG00000156641	ENST00000453386.2:c.735A>T	3.37:g.185637272T>A						TRA2B_ENST00000382191.4_Silent_p.G145G	p.G245G	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN			7	1010	-			245			Arg/Ser-rich (RS2 domain).		B4DVK2|D3DNU3|O15449|Q15815|Q64283	Silent	SNP	ENST00000453386.2	37	c.735A>T	CCDS33905.1	.	.	.	.	.	.	.	.	.	.	T	3.831	-0.035775	0.07497	.	.	ENSG00000136527	ENST00000414862	.	.	.	5.8	-3.23	0.05109	.	.	.	.	.	T	0.41305	0.1153	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31223	-0.9951	4	.	.	.	-6.9334	3.3798	0.07251	0.3048:0.0642:0.1088:0.5223	.	.	.	.	V	65	.	.	E	-	2	0	TRA2B	187119966	0.041000	0.20044	0.912000	0.35992	0.255000	0.26057	-1.538000	0.02204	-0.823000	0.04301	-1.696000	0.00724	GAG		0.393	TRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344984.1	NM_004593		5	124	0	0	0	1	0	5	124				
MADCAM1	8174	broad.mit.edu	37	19	501762	501762	+	Missense_Mutation	SNP	A	A	C	rs200007467		TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr19:501762A>C	ENST00000215637.3	+	4	807	c.761A>C	c.(760-762)cAg>cCg	p.Q254P	MADCAM1_ENST00000587541.1_Missense_Mutation_p.Q35P|MADCAM1_ENST00000382683.4_Intron|AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000346144.4_Intron	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	254	5.5 X 8 AA tandem repeats of [PS]-P-D-T- T-S-[QP]-E.|Mucin-like.			Q -> P (in Ref. 1; AAC13661). {ECO:0000305}.	aging (GO:0007568)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|embryo development (GO:0009790)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding involved in cell-matrix adhesion (GO:0098640)	p.Q254P(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCACCTCCCAGGAGCCTCCC	0.721																																						ENST00000587541.1																			1	Substitution - Missense(1)	p.Q254P(1)	kidney(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10						c.(103-105)cAg>cCg		mucosal vascular addressin cell adhesion molecule 1							31.0	36.0	34.0					19																	501762		2194	4290	6484	SO:0001583	missense	8174				cell adhesion|immune response|regulation of immune response|signal transduction	integral to membrane|membrane fraction|plasma membrane		g.chr19:501762A>C	U43628	CCDS12028.1, CCDS12029.1	19p13.3	2013-01-11			ENSG00000099866	ENSG00000099866		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6765	protein-coding gene	gene with protein product	"""mucosal addressin cell adhesion molecule-1"""	102670				9162097, 8609404	Standard	NM_130762		Approved	MACAM1	uc002los.3	Q13477	OTTHUMG00000180548	ENST00000215637.3:c.761A>C	19.37:g.501762A>C	ENSP00000215637:p.Gln254Pro					MADCAM1_ENST00000346144.4_Intron|AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000215637.3_Missense_Mutation_p.Q254P|MADCAM1_ENST00000382683.4_Intron	p.Q35P			Q13477	MADCA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	958	+		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	254			Ig-like 1.		A5PKV4|B2RPL9|O60222|O75867|Q5UGI7	Missense_Mutation	SNP	ENST00000215637.3	37	c.104A>C	CCDS12028.1	.	.	.	.	.	.	.	.	.	.	N	5.739	0.320845	0.10845	.	.	ENSG00000099866	ENST00000537731;ENST00000542525;ENST00000543297;ENST00000215637	T	0.09073	3.02	2.86	-5.72	0.02406	.	.	.	.	.	T	0.01940	0.0061	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40869	-0.9540	9	0.02654	T	1	.	3.6031	0.08032	0.3032:0.5048:0.0:0.192	.	254	Q13477	MADCA_HUMAN	P	278;270;262;254	ENSP00000215637:Q254P	ENSP00000215637:Q254P	Q	+	2	0	MADCAM1	452762	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.356000	0.00247	-1.159000	0.02807	-1.988000	0.00451	CAG		0.721	MADCAM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451884.1	NM_130760		5	47	0	0	0	1	0	5	47				
SLC6A10P	386757	broad.mit.edu	37	16	32890639	32890639	+	RNA	SNP	T	T	C	rs79284655	byFrequency	TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr16:32890639T>C	ENST00000330048.5	-	0	3159					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		ACCAGCGGCTTGTAGTACACA	0.627																																						ENST00000330048.5																			0																																																			0							g.chr16:32890639T>C	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32890639T>C								NR_003083.2						0	3159	-									RNA	SNP	ENST00000330048.5	37																																																																																						0.627	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2			4	47	0	0	0	1	0	4	47				
SSX5	6758	broad.mit.edu	37	X	48053616	48053616	+	Missense_Mutation	SNP	C	C	T	rs200600341		TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chrX:48053616C>T	ENST00000376923.1	-	3	228	c.229G>A	c.(229-231)Gca>Aca	p.A77T	SSX5_ENST00000311798.1_Missense_Mutation_p.A118T|SSX5_ENST00000347757.1_Missense_Mutation_p.A77T			O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	77	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						TGGAAGTCTGCGACCCGTTTA	0.488													.|||	1	0.000264901	0.0	0.0	3775	,	,		12192	0.0		0.001	False		,,,				2504	0.0					ENST00000311798.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						c.(352-354)Gca>Aca		synovial sarcoma, X breakpoint 5							157.0	137.0	144.0					X																	48053616		2203	4299	6502	SO:0001583	missense	6758				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48053616C>T	BC016640	CCDS14288.1, CCDS14289.1	Xp11.23	2008-02-05			ENSG00000165583	ENSG00000165583			11339	protein-coding gene	gene with protein product		300327					Standard	NM_021015		Approved		uc004diz.1	O60225	OTTHUMG00000021471	ENST00000376923.1:c.229G>A	X.37:g.48053616C>T	ENSP00000366122:p.Ala77Thr					SSX5_ENST00000376923.1_Missense_Mutation_p.A77T|SSX5_ENST00000347757.1_Missense_Mutation_p.A77T	p.A118T	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN			5	404	-			77					Q5JQ59|Q5JQ60|Q96AW3	Missense_Mutation	SNP	ENST00000376923.1	37	c.352G>A	CCDS14289.1	.	.	.	.	.	.	.	.	.	.	N	0.004	-2.331428	0.00227	.	.	ENSG00000165583	ENST00000311798;ENST00000376923;ENST00000347757	T;T;T	0.10005	2.92;2.94;2.94	1.5	-2.99	0.05497	Krueppel-associated box (2);Krueppel-associated box-related (1);	2.124530	0.02163	N	0.058982	T	0.03136	0.0092	N	0.01410	-0.885	0.09310	N	1	B;B	0.15473	0.001;0.013	B;B	0.15052	0.002;0.012	T	0.36601	-0.9741	10	0.05833	T	0.94	.	6.2513	0.20848	0.0:0.5991:0.0:0.4009	.	77;118	O60225;O60225-2	SSX5_HUMAN;.	T	118;77;77	ENSP00000312415:A118T;ENSP00000366122:A77T;ENSP00000290558:A77T	ENSP00000312415:A118T	A	-	1	0	SSX5	47938560	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.551000	0.00928	-1.105000	0.03011	-1.607000	0.00807	GCA		0.488	SSX5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056466.1	NM_021015		137	23	0	0	0	1	0	137	23				
MUC5B	727897	broad.mit.edu	37	11	1247990	1247990	+	Silent	SNP	C	C	T	rs370501363		TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr11:1247990C>T	ENST00000529681.1	+	4	403	c.345C>T	c.(343-345)aaC>aaT	p.N115N	MUC5B_ENST00000447027.1_Silent_p.N115N	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	115	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGGACTTCAACGTCCAGCTAC	0.632																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(343-345)aaC>aaT		mucin 5B, oligomeric mucus/gel-forming		C		1,4253		0,1,2126	37.0	40.0	39.0		345	3.7	0.9	11		39	0,8484		0,0,4242	no	coding-synonymous	MUC5B	NM_002458.2		0,1,6368	TT,TC,CC		0.0,0.0235,0.0079		115/5763	1247990	1,12737	2127	4242	6369	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1247990C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.345C>T	11.37:g.1247990C>T						MUC5B_ENST00000529681.1_Silent_p.N115N	p.N115N			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	4	403	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	115			VWFD 1.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.345C>T	CCDS44515.2																																																																																				0.632	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		5	53	0	0	0	1	0	5	53				
APPL2	55198	broad.mit.edu	37	12	105593272	105593272	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr12:105593272G>A	ENST00000258530.3	-	10	967	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	APPL2_ENST00000539978.2_Missense_Mutation_p.R205W|APPL2_ENST00000551662.1_Missense_Mutation_p.R254W|APPL2_ENST00000549573.1_5'UTR	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0	Asp/Glu-rich (highly acidic).				cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGGGACACCCGCATCTTTTCC	0.502																																						ENST00000258530.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(742-744)Cgg>Tgg		adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2							113.0	102.0	106.0					12																	105593272		2203	4300	6503	SO:0001583	missense	55198				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding	g.chr12:105593272G>A	AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"""Pleckstrin homology (PH) domain containing"""	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.742C>T	12.37:g.105593272G>A	ENSP00000258530:p.Arg248Trp					APPL2_ENST00000539978.2_Missense_Mutation_p.R205W|APPL2_ENST00000551662.1_Missense_Mutation_p.R254W|APPL2_ENST00000549573.1_5'UTR	p.R248W	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN			10	967	-			248			Required for RAB5A binding (By similarity).		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000258530.3	37	c.742C>T	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.137834	0.77775	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662	T;T;T	0.04502	3.61;3.61;3.61	5.93	1.71	0.24356	.	0.162995	0.51477	D	0.000092	T	0.18800	0.0451	M	0.67953	2.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.01039	-1.1472	10	0.72032	D	0.01	-4.1232	16.0795	0.80995	0.0:0.0:0.3763:0.6236	.	254;205;248	F8W1P5;B7Z1Q8;Q8NEU8	.;.;DP13B_HUMAN	W	248;205;254	ENSP00000258530:R248W;ENSP00000444472:R205W;ENSP00000446917:R254W	ENSP00000258530:R248W	R	-	1	2	APPL2	104117402	1.000000	0.71417	0.987000	0.45799	0.952000	0.60782	1.887000	0.39698	0.355000	0.24131	0.655000	0.94253	CGG		0.502	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3	NM_018171		4	142	0	0	0	1	0	4	142				
APOB	338	broad.mit.edu	37	2	21238368	21238368	+	Missense_Mutation	SNP	G	G	A	rs72653076	byFrequency	TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr2:21238368G>A	ENST00000233242.1	-	22	3509	c.3382C>T	c.(3382-3384)Cgt>Tgt	p.R1128C		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1128			R -> H (in dbSNP:rs12713843). {ECO:0000269|PubMed:14732481}.		artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTTGCAAACGGGGTATGGAA	0.453													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19532	0.0		0.0	False		,,,				2504	0.0					ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(3382-3384)Cgt>Tgt		apolipoprotein B	Atorvastatin(DB01076)	G	CYS/ARG	6,4400	11.4+/-27.6	0,6,2197	128.0	122.0	124.0		3382	5.4	0.9	2	dbSNP_130	124	3,8597	3.0+/-9.4	0,3,4297	yes	missense	APOB	NM_000384.2	180	0,9,6494	AA,AG,GG		0.0349,0.1362,0.0692	probably-damaging	1128/4564	21238368	9,12997	2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21238368G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.3382C>T	2.37:g.21238368G>A	ENSP00000233242:p.Arg1128Cys						p.R1128C	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			22	3509	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1128		R -> H (in dbSNP:rs12713843).			O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.3382C>T	CCDS1703.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	24.9	4.578443	0.86645	0.001362	3.49E-4	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00856	5.61	5.43	5.43	0.79202	.	0.096408	0.46442	D	0.000295	T	0.04679	0.0127	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	P	0.60609	0.877	T	0.17349	-1.0372	10	0.87932	D	0	.	17.798	0.88579	0.0:0.0:1.0:0.0	.	1128	P04114	APOB_HUMAN	C	1128	ENSP00000233242:R1128C	ENSP00000233242:R1128C	R	-	1	0	APOB	21091873	1.000000	0.71417	0.949000	0.38748	0.995000	0.86356	4.626000	0.61269	2.732000	0.93576	0.655000	0.94253	CGT		0.453	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			41	59	0	0	0	1	0	41	59				
OR2A2	442361	broad.mit.edu	37	7	143806961	143806961	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr7:143806961T>C	ENST00000408979.2	+	1	355	c.286T>C	c.(286-288)Tgc>Cgc	p.C96R		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					CTTTGTTCCATGCATAATGCA	0.433																																						ENST00000408979.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22						c.(286-288)Tgc>Cgc		olfactory receptor, family 2, subfamily A, member 2							246.0	225.0	232.0					7																	143806961		2025	4220	6245	SO:0001583	missense	442361				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143806961T>C		CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"""GPCR / Class A : Olfactory receptors"""	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.286T>C	7.37:g.143806961T>C	ENSP00000386209:p.Cys96Arg						p.C96R	NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN			1	355	+	Melanoma(164;0.0783)		96					B2RN85|Q8NGT6	Missense_Mutation	SNP	ENST00000408979.2	37	c.286T>C	CCDS43671.1	.	.	.	.	.	.	.	.	.	.	T	11.55	1.673066	0.29693	.	.	ENSG00000221989	ENST00000408979	T	0.00545	6.67	3.61	3.61	0.41365	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.02610	0.0079	M	0.93898	3.47	0.80722	D	1	D	0.61697	0.99	D	0.63381	0.914	T	0.11616	-1.0580	9	0.87932	D	0	-15.9414	10.4392	0.44455	0.0:0.0:0.0:1.0	.	96	Q6IF42	OR2A2_HUMAN	R	96	ENSP00000386209:C96R	ENSP00000386209:C96R	C	+	1	0	OR2A2	143437894	1.000000	0.71417	0.017000	0.16124	0.040000	0.13550	5.638000	0.67861	1.632000	0.50472	0.496000	0.49642	TGC		0.433	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1			5	354	0	0	0	1	0	5	354				
ANO1	55107	broad.mit.edu	37	11	69957819	69957819	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr11:69957819C>T	ENST00000355303.5	+	7	1111	c.806C>T	c.(805-807)aCg>aTg	p.T269M	ANO1_ENST00000531349.1_Missense_Mutation_p.T4M|ANO1_ENST00000538023.1_Missense_Mutation_p.T269M|ANO1_ENST00000398543.2_Missense_Mutation_p.T153M|ANO1_ENST00000530676.1_Missense_Mutation_p.T153M|ANO1_ENST00000316296.5_Missense_Mutation_p.T241M	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	269					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	TAAGGCATCACGAGCCTGCTG	0.532																																						ENST00000355303.5																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						c.(805-807)aCg>aTg		anoctamin 1, calcium activated chloride channel							141.0	149.0	146.0					11																	69957819		2032	4186	6218	SO:0001583	missense	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:69957819C>T	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.806C>T	11.37:g.69957819C>T	ENSP00000347454:p.Thr269Met					ANO1_ENST00000538023.1_Missense_Mutation_p.T269M|ANO1_ENST00000398543.2_Missense_Mutation_p.T153M|ANO1_ENST00000316296.5_Missense_Mutation_p.T241M|ANO1_ENST00000530676.1_Missense_Mutation_p.T153M|ANO1_ENST00000531349.1_Missense_Mutation_p.T4M	p.T269M	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN			7	1111	+			269					A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	c.806C>T	CCDS44663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.6|25.6	4.651902|4.651902	0.88056|0.88056	.|.	.|.	ENSG00000131620|ENSG00000131620	ENST00000530480|ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000531604;ENST00000316296;ENST00000530676;ENST00000531349	.|T;T;T;T;T;T;T	.|0.66995	.|-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.24	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.80352	.|0.4607	M|M	0.68593|0.68593	2.085|2.085	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D	.|0.89917	.|0.992;1.0;0.998	.|P;D;P	.|0.72338	.|0.714;0.977;0.858	.|T	.|0.79967	.|-0.1580	.|9	.|.	.|.	.|.	.|.	17.8309|17.8309	0.88682|0.88682	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|4;241;269	.|E9PNA7;Q5XXA6-3;Q5XXA6	.|.;.;ANO1_HUMAN	X|M	134|269;269;153;53;236;241;153;4	.|ENSP00000347454:T269M;ENSP00000444689:T269M;ENSP00000381551:T153M;ENSP00000436392:T236M;ENSP00000319477:T241M;ENSP00000435797:T153M;ENSP00000432843:T4M	.|.	R|T	+|+	1|2	2|0	ANO1|ANO1	69635467|69635467	1.000000|1.000000	0.71417|0.71417	0.969000|0.969000	0.41365|0.41365	0.968000|0.968000	0.65278|0.65278	5.123000|5.123000	0.64703|0.64703	2.453000|2.453000	0.82957|0.82957	0.462000|0.462000	0.41574|0.41574	CGA|ACG		0.532	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		5	216	0	0	0	1	0	5	216				
CSNK2A1	1457	broad.mit.edu	37	20	480554	480554	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr20:480554G>A	ENST00000217244.3	-	5	613	c.238C>T	c.(238-240)Cgt>Tgt	p.R80C	CSNK2A1_ENST00000400217.2_5'UTR|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.R80C|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.R80C	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	80	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|chaperone-mediated protein folding (GO:0061077)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	ATP binding (GO:0005524)|Hsp90 protein binding (GO:0051879)|protein N-terminus binding (GO:0047485)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			TTTATTTCACGCTTAATTTTC	0.343																																						ENST00000217244.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17						c.(238-240)Cgt>Tgt		casein kinase 2, alpha 1 polypeptide							109.0	114.0	112.0					20																	480554		2203	4300	6503	SO:0001583	missense	1457				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	g.chr20:480554G>A	M55265	CCDS13003.1, CCDS13004.1	20p13	2013-01-17			ENSG00000101266	ENSG00000101266			2457	protein-coding gene	gene with protein product		115440				2174700, 1766873	Standard	NM_177559		Approved		uc002wdx.1	P68400	OTTHUMG00000031636	ENST00000217244.3:c.238C>T	20.37:g.480554G>A	ENSP00000217244:p.Arg80Cys					CSNK2A1_ENST00000349736.5_Missense_Mutation_p.R80C|CSNK2A1_ENST00000460062.1_5'UTR|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.R80C|CSNK2A1_ENST00000400217.1_5'UTR	p.R80C	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.0969)		5	613	-		Breast(17;0.231)	80			Protein kinase.		B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065	Missense_Mutation	SNP	ENST00000217244.3	37	c.238C>T	CCDS13003.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031547	0.75504	.	.	ENSG00000101266	ENST00000400227;ENST00000349736;ENST00000217244;ENST00000381973	T;T;T	0.08984	3.03;3.03;3.03	5.2	5.2	0.72013	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.049175	0.85682	D	0.000000	T	0.49729	0.1574	H	0.99238	4.48	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.72347	-0.4321	10	0.87932	D	0	-4.6753	17.9081	0.88926	0.0:0.0:1.0:0.0	.	80	P68400	CSK21_HUMAN	C	80	ENSP00000383086:R80C;ENSP00000339247:R80C;ENSP00000217244:R80C	ENSP00000217244:R80C	R	-	1	0	CSNK2A1	428554	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.413000	0.73308	2.717000	0.92951	0.655000	0.94253	CGT		0.343	CSNK2A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077466.1	NM_001895		5	281	0	0	0	1	0	5	281				
NIPBL	25836	broad.mit.edu	37	5	36962286	36962286	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr5:36962286G>A	ENST00000282516.8	+	6	1019	c.520G>A	c.(520-522)Gtg>Atg	p.V174M	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.V174M	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	174					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AAATAGCCCAGTGCCTAGTCC	0.438																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(520-522)Gtg>Atg		Nipped-B homolog (Drosophila)							254.0	232.0	240.0					5																	36962286		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36962286G>A	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.520G>A	5.37:g.36962286G>A	ENSP00000282516:p.Val174Met					NIPBL_ENST00000448238.2_Missense_Mutation_p.V174M|NIPBL_ENST00000504430.1_3'UTR	p.V174M	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		6	1019	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		174					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.520G>A	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.023098	0.93462	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.94862	-3.53;-3.54	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.96506	0.8860	L	0.57536	1.79	0.44736	D	0.99773	D;D	0.65815	0.991;0.995	P;D	0.66497	0.881;0.944	D	0.96451	0.9334	10	0.62326	D	0.03	.	19.4838	0.95020	0.0:0.0:1.0:0.0	.	174;174	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	M	174	ENSP00000282516:V174M;ENSP00000406266:V174M	ENSP00000282516:V174M	V	+	1	0	NIPBL	36998043	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.318000	0.72866	2.695000	0.91970	0.655000	0.94253	GTG		0.438	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		181	250	0	0	0	1	0	181	250				
DPY19L2P1	554236	broad.mit.edu	37	7	35131480	35131480	+	RNA	SNP	A	A	T			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr7:35131480A>T	ENST00000436258.1	-	0	1889							Q6NXN4	D19P1_HUMAN	DPY19L2 pseudogene 1							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										ATCTTCGTAAAGTGGATGATT	0.423																																						ENST00000436258.1																			0																																																			0							g.chr7:35131480A>T	BC066987		7p14.2	2014-03-18	2013-09-12		ENSG00000189212	ENSG00000189212			22305	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 1 (C. elegans)"""				Standard	NR_002833		Approved		uc031swy.1	Q6NXN4	OTTHUMG00000155026		7.37:g.35131480A>T														0	1889	-								B4E2E3	RNA	SNP	ENST00000436258.1	37																																																																																						0.423	DPY19L2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338113.1			4	122	0	0	0	1	0	4	122				
DHX34	9704	broad.mit.edu	37	19	47883203	47883203	+	Silent	SNP	C	C	T			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr19:47883203C>T	ENST00000328771.4	+	14	3292	c.2943C>T	c.(2941-2943)gcC>gcT	p.A981A		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	981					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		AGGAGGTGGCCACCCTGAGCA	0.662																																						ENST00000328771.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2941-2943)gcC>gcT		DEAH (Asp-Glu-Ala-His) box polypeptide 34							60.0	51.0	54.0					19																	47883203		2203	4300	6503	SO:0001819	synonymous_variant	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47883203C>T	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.2943C>T	19.37:g.47883203C>T							p.A981A	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	14	3292	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	981					B4DMY8	Silent	SNP	ENST00000328771.4	37	c.2943C>T	CCDS12700.1																																																																																				0.662	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		4	38	0	0	0	1	0	4	38				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			71	102	0	0	0	1	0	71	102				
TUBB8	347688	broad.mit.edu	37	10	93719	93719	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr10:93719C>T	ENST00000309812.4	-	4	675	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000447903.2_Missense_Mutation_p.E133K	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	205					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.E205K(1)		NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		TACAGAGCTTCGTTATCTATG	0.537																																					Pancreas(192;2041 3010 9013 18103)	ENST00000447903.2																			1	Substitution - Missense(1)	p.E205K(1)	large_intestine(1)	NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32						c.(397-399)Gaa>Aaa		tubulin, beta 8 class VIII							95.0	88.0	90.0					10																	93719		2203	4299	6502	SO:0001583	missense	347688				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:93719C>T	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"""Tubulins"""	20773	protein-coding gene	gene with protein product	"""class VIII beta-tubulin"""						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.613G>A	10.37:g.93719C>T	ENSP00000311042:p.Glu205Lys					TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000309812.4_Missense_Mutation_p.E205K	p.E133K			Q3ZCM7	TBB8_HUMAN		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)	4	712	-		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)	205					Q5SQX9|Q8WZ78	Missense_Mutation	SNP	ENST00000309812.4	37	c.397G>A	CCDS7051.1	.	.	.	.	.	.	.	.	.	.	C	9.052	0.992271	0.18966	.	.	ENSG00000173876	ENST00000447903;ENST00000272035;ENST00000440680;ENST00000328974	T	0.70631	-0.5	.	.	.	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.64402	U	0.000009	T	0.79684	0.4488	M	0.93638	3.44	0.36203	D	0.850831	P;P	0.48834	0.796;0.916	B;P	0.51550	0.14;0.673	T	0.80759	-0.1239	9	0.87932	D	0	.	5.9051	0.18992	0.0:0.9992:0.0:8.0E-4	.	168;205	C9JAA5;Q3ZCM7	.;TBB8_HUMAN	K	133;171;168;205	ENSP00000403895:E133K	ENSP00000272035:E171K	E	-	1	0	RP11-631M21.2	83719	1.000000	0.71417	0.037000	0.18230	0.038000	0.13279	5.268000	0.65536	0.119000	0.18210	0.121000	0.15741	GAA		0.537	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		8	290	0	0	0	1	0	8	290				
BVES	11149	broad.mit.edu	37	6	105573335	105573335	+	Missense_Mutation	SNP	T	T	C	rs369142492		TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr6:105573335T>C	ENST00000314641.5	-	4	686	c.470A>G	c.(469-471)aAg>aGg	p.K157R	BVES_ENST00000446408.2_Missense_Mutation_p.K157R|BVES_ENST00000336775.5_Missense_Mutation_p.K157R	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	157					epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)	p.K157R(1)		NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				AGTTTGGCCCTTTTTCAAGGT	0.438																																						ENST00000314641.5																			1	Substitution - Missense(1)	p.K157R(1)	prostate(1)	NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(469-471)aAg>aGg		blood vessel epicardial substance		T	ARG/LYS,ARG/LYS,ARG/LYS	0,4406		0,0,2203	160.0	160.0	160.0		470,470,470	3.3	1.0	6		160	1,8599		0,1,4299	no	missense,missense,missense	BVES	NM_147147.3,NM_007073.4,NM_001199563.1	26,26,26	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign,benign,benign	157/361,157/361,157/361	105573335	1,13005	2203	4300	6503	SO:0001583	missense	11149				epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity	g.chr6:105573335T>C	AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"""popeye domain containing 1"""	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.470A>G	6.37:g.105573335T>C	ENSP00000313172:p.Lys157Arg					BVES_ENST00000446408.2_Missense_Mutation_p.K157R|BVES_ENST00000336775.5_Missense_Mutation_p.K157R	p.K157R	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN			4	686	-		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)	157					A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Missense_Mutation	SNP	ENST00000314641.5	37	c.470A>G	CCDS5051.1	.	.	.	.	.	.	.	.	.	.	T	11.10	1.540510	0.27563	0.0	1.16E-4	ENSG00000112276	ENST00000314641;ENST00000336775;ENST00000446408	T;T;T	0.31510	1.49;1.49;1.49	5.76	3.34	0.38264	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.130282	0.64402	N	0.000002	T	0.07638	0.0192	L	0.31845	0.965	0.39124	D	0.961725	B	0.14438	0.01	B	0.13407	0.009	T	0.12528	-1.0544	10	0.13470	T	0.59	-15.0112	6.8871	0.24208	0.0:0.148:0.1607:0.6914	.	157	Q8NE79	POPD1_HUMAN	R	157	ENSP00000313172:K157R;ENSP00000337259:K157R;ENSP00000397310:K157R	ENSP00000313172:K157R	K	-	2	0	BVES	105680028	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.676000	0.46883	1.016000	0.39470	0.533000	0.62120	AAG		0.438	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406075.1	NM_147147		5	378	0	0	0	1	0	5	378				
TRAF5	7188	broad.mit.edu	37	1	211544684	211544684	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr1:211544684C>T	ENST00000261464.5	+	10	1025	c.971C>T	c.(970-972)gCt>gTt	p.A324V	TRAF5_ENST00000336184.2_Missense_Mutation_p.A324V|TRAF5_ENST00000367004.3_Missense_Mutation_p.A324V|TRAF5_ENST00000427925.2_Missense_Mutation_p.A218V	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	324					apoptotic process (GO:0006915)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	CD40 receptor complex (GO:0035631)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)	signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		TGGCTAGAAGCTCAAGTGCAT	0.318																																						ENST00000261464.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(970-972)gCt>gTt		TNF receptor-associated factor 5							79.0	80.0	80.0					1																	211544684		2203	4300	6503	SO:0001583	missense	7188				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:211544684C>T	AB000509	CCDS1497.1	1q32	2008-02-05			ENSG00000082512	ENSG00000082512		"""RING-type (C3HC4) zinc fingers"""	12035	protein-coding gene	gene with protein product		602356				9126477	Standard	NM_001033910		Approved	RNF84	uc001hii.3	O00463	OTTHUMG00000036997	ENST00000261464.5:c.971C>T	1.37:g.211544684C>T	ENSP00000261464:p.Ala324Val					TRAF5_ENST00000367004.3_Missense_Mutation_p.A324V|TRAF5_ENST00000336184.2_Missense_Mutation_p.A324V|TRAF5_ENST00000427925.2_Missense_Mutation_p.A218V	p.A324V	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)	10	1025	+			324					B4DIS9|B4E0A2|Q6FHY1	Missense_Mutation	SNP	ENST00000261464.5	37	c.971C>T	CCDS1497.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.906965	0.33628	.	.	ENSG00000082512	ENST00000336184;ENST00000427925;ENST00000261464;ENST00000367004	T;T;T;T	0.36340	2.1;1.26;2.1;2.1	4.74	3.8	0.43715	.	1.591440	0.03527	N	0.221886	T	0.30355	0.0762	L	0.34521	1.04	0.23416	N	0.997725	B;B;B	0.16802	0.019;0.002;0.001	B;B;B	0.14578	0.011;0.001;0.001	T	0.18304	-1.0341	10	0.27082	T	0.32	-20.5019	7.2495	0.26142	0.1672:0.7434:0.0:0.0894	.	218;335;324	F5H1P7;B4E0A2;O00463	.;.;TRAF5_HUMAN	V	324;218;324;324	ENSP00000336825:A324V;ENSP00000389891:A218V;ENSP00000261464:A324V;ENSP00000355971:A324V	ENSP00000261464:A324V	A	+	2	0	TRAF5	209611307	0.999000	0.42202	1.000000	0.80357	0.925000	0.55904	2.059000	0.41384	1.067000	0.40740	0.591000	0.81541	GCT		0.318	TRAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089825.1	NM_004619		31	98	0	0	0	1	0	31	98				
CIC	23152	broad.mit.edu	37	19	42792003	42792003	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr19:42792003G>A	ENST00000575354.2	+	6	847	c.807G>A	c.(805-807)tgG>tgA	p.W269*	CIC_ENST00000160740.3_Nonsense_Mutation_p.W269*|CIC_ENST00000572681.2_Nonsense_Mutation_p.W1178*	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	269					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ATTGGAAGTGGTGCAACAAGG	0.632			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3532-3534)tgG>tgA		capicua transcriptional repressor							35.0	32.0	33.0					19																	42792003		2202	4300	6502	SO:0001587	stop_gained	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42792003G>A	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.807G>A	19.37:g.42792003G>A	ENSP00000458663:p.Trp269*					CIC_ENST00000575354.2_Nonsense_Mutation_p.W269*|CIC_ENST00000160740.3_Nonsense_Mutation_p.W269*	p.W1178*			Q96RK0	CIC_HUMAN			7	3602	+		Prostate(69;0.00682)	269			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Nonsense_Mutation	SNP	ENST00000575354.2	37	c.3534G>A	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	41	8.585309	0.98875	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.59	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.989	14.9544	0.71101	0.0:0.0:1.0:0.0	.	.	.	.	X	269	.	ENSP00000160740:W269X	W	+	3	0	CIC	47483843	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.836000	0.86788	2.391000	0.81399	0.555000	0.69702	TGG		0.632	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			15	6	0	0	0	1	0	15	6				
IL12A-AS1	101928376	broad.mit.edu	37	3	159819357	159819357	+	RNA	SNP	G	G	A			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr3:159819357G>A	ENST00000497452.1	-	0	517									IL12A antisense RNA 1																		AGAGCCTGAAGCAGAGCATAG	0.453																																						ENST00000497452.1																			0																																																			0							g.chr3:159819357G>A	AK097161		3q25.33	2013-09-02			ENSG00000244040	ENSG00000244040		"""Long non-coding RNAs"""	49094	non-coding RNA	RNA, long non-coding							Standard	NR_108088		Approved				OTTHUMG00000158951		3.37:g.159819357G>A														0	517	-									RNA	SNP	ENST00000497452.1	37																																																																																						0.453	IL12A-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000352647.1			6	312	0	0	0	1	0	6	312				
HIVEP1	3096	broad.mit.edu	37	6	12123517	12123517	+	Silent	SNP	G	G	A			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr6:12123517G>A	ENST00000379388.2	+	4	3821	c.3489G>A	c.(3487-3489)caG>caA	p.Q1163Q	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1163					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TTTCTTTCCAGGAGCTGAATA	0.522																																						ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(3487-3489)caG>caA		human immunodeficiency virus type I enhancer binding protein 1							42.0	42.0	42.0					6																	12123517		1840	4083	5923	SO:0001819	synonymous_variant	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12123517G>A	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.3489G>A	6.37:g.12123517G>A							p.Q1163Q	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			4	3821	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	1163					B2RTU3|Q14122|Q5MPB1|Q5VW60	Silent	SNP	ENST00000379388.2	37	c.3489G>A	CCDS43426.1																																																																																				0.522	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		37	62	0	0	0	1	0	37	62				
MAPK9	5601	broad.mit.edu	37	5	179674427	179674427	+	Intron	SNP	G	G	A			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr5:179674427G>A	ENST00000452135.2	-	7	987				MAPK9_ENST00000455781.1_Intron|MAPK9_ENST00000425491.2_Missense_Mutation_p.R234C|MAPK9_ENST00000539014.1_3'UTR|MAPK9_ENST00000343111.6_Intron|MAPK9_ENST00000397072.3_Intron|MAPK9_ENST00000524170.1_Intron|MAPK9_ENST00000393360.3_Intron|MAPK9_ENST00000347470.4_Intron			P45984	MK09_HUMAN	mitogen-activated protein kinase 9						cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV (GO:0034644)|central nervous system development (GO:0007417)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neuron projection development (GO:0031175)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell morphogenesis involved in differentiation (GO:0010770)|positive regulation of chemokine production (GO:0032722)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|protein targeting to mitochondrion (GO:0006626)|regulation of JNK cascade (GO:0046328)|regulation of protein ubiquitination (GO:0031396)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to amine (GO:0014075)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|JUN kinase activity (GO:0004705)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAAGGTCGCGGGGAAGGATA	0.502																																						ENST00000425491.2																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(700-702)Cgc>Tgc		mitogen-activated protein kinase 9							90.0	78.0	82.0					5																	179674427		2203	4300	6503	SO:0001627	intron_variant	5601				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding	g.chr5:179674427G>A	U09759	CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1	5q35	2011-06-09			ENSG00000050748	ENSG00000050748	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6886	protein-coding gene	gene with protein product	"""Jun kinase"""	602896		PRKM9		8001819	Standard	NM_002752		Approved	JNK2, p54a, SAPK	uc003mls.4	P45984	OTTHUMG00000130934	ENST00000452135.2:c.688+11C>T	5.37:g.179674427G>A						MAPK9_ENST00000455781.1_Intron|MAPK9_ENST00000347470.4_Intron|MAPK9_ENST00000539014.1_3'UTR|MAPK9_ENST00000524170.1_Intron|MAPK9_ENST00000452135.2_Intron|MAPK9_ENST00000397072.3_Intron|MAPK9_ENST00000393360.3_Intron|MAPK9_ENST00000343111.6_Intron	p.R234C	NM_001135044.1	NP_001128516.1	P45984	MK09_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	866	-	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	0			Protein kinase.		A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Missense_Mutation	SNP	ENST00000452135.2	37	c.700C>T	CCDS4453.1	.	.	.	.	.	.	.	.	.	.	G	5.940	0.357401	0.11239	.	.	ENSG00000050748	ENST00000425491	T	0.75704	-0.96	3.74	-0.696	0.11287	.	.	.	.	.	T	0.58892	0.2154	.	.	.	0.58432	D	0.999999	B	0.31077	0.307	B	0.21546	0.035	T	0.42865	-0.9426	8	0.87932	D	0	.	5.3651	0.16109	0.3014:0.4596:0.239:0.0	.	234	P45984-5	.	C	234	ENSP00000397422:R234C	ENSP00000397422:R234C	R	-	1	0	MAPK9	179607033	0.997000	0.39634	0.007000	0.13788	0.123000	0.20343	0.889000	0.28282	-0.668000	0.05296	-0.181000	0.13052	CGC		0.502	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253530.3			4	66	0	0	0	1	0	4	66				
ABCC9	10060	broad.mit.edu	37	12	21997752	21997752	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr12:21997752G>C	ENST00000261201.4	-	25	3193	c.3194C>G	c.(3193-3195)gCc>gGc	p.A1065G	ABCC9_ENST00000345162.2_Missense_Mutation_p.A1029G|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261200.4_Missense_Mutation_p.A1065G	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1065	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	AAGATTTTTGGCAGCTGTGAG	0.398																																						ENST00000261200.4																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(3193-3195)gCc>gGc		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						161.0	161.0	161.0					12																	21997752		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21997752G>C	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3194C>G	12.37:g.21997752G>C	ENSP00000261201:p.Ala1065Gly					ABCC9_ENST00000345162.2_Missense_Mutation_p.A1029G|ABCC9_ENST00000261201.4_Missense_Mutation_p.A1065G|RP11-729I10.2_ENST00000539874.1_RNA	p.A1065G	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN			25	3193	-			1065			ABC transmembrane type-1 2.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.3194C>G	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563540	0.86335	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56	5.59	5.59	0.84812	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.114219	0.64402	D	0.000015	D	0.93835	0.8028	M	0.62723	1.935	0.80722	D	1	D;D	0.76494	0.999;0.957	D;P	0.75484	0.986;0.59	D	0.93959	0.7239	10	0.72032	D	0.01	-10.5081	19.6034	0.95572	0.0:0.0:1.0:0.0	.	1065;1065	O60706;O60706-2	ABCC9_HUMAN;.	G	1065;692;1065;1029	ENSP00000261200:A1065G;ENSP00000440521:A692G;ENSP00000261201:A1065G;ENSP00000261202:A1029G	ENSP00000261200:A1065G	A	-	2	0	ABCC9	21889019	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.606000	0.98325	2.623000	0.88846	0.650000	0.86243	GCC		0.398	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		7	191	0	0	0	1	0	7	191				
RNF168	165918	broad.mit.edu	37	3	196229932	196229932	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr3:196229932G>A	ENST00000318037.3	-	1	707	c.113C>T	c.(112-114)cCg>cTg	p.P38L		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	38					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P38Q(1)		NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		CTGGAAGCACGGTTTACACAG	0.582																																						ENST00000318037.3																			1	Substitution - Missense(1)	p.P38Q(1)	lung(1)	NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20						c.(112-114)cCg>cTg		ring finger protein 168, E3 ubiquitin protein ligase							138.0	113.0	121.0					3																	196229932		2203	4300	6503	SO:0001583	missense	165918				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:196229932G>A	AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"""RING-type (C3HC4) zinc fingers"""	26661	protein-coding gene	gene with protein product		612688	"""ring finger protein 168"""			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.113C>T	3.37:g.196229932G>A	ENSP00000320898:p.Pro38Leu						p.P38L	NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)	1	707	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		38					Q8NA67|Q96NS4	Missense_Mutation	SNP	ENST00000318037.3	37	c.113C>T	CCDS3317.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.979411	0.53827	.	.	ENSG00000163961	ENST00000318037	D	0.84442	-1.85	6.0	6.0	0.97389	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.323582	0.27092	N	0.020977	T	0.79958	0.4536	N	0.20401	0.57	0.32300	N	0.565177	P	0.51449	0.945	B	0.42361	0.385	D	0.83439	0.0042	10	0.62326	D	0.03	-3.6281	20.5595	0.99322	0.0:0.0:1.0:0.0	.	38	Q8IYW5	RN168_HUMAN	L	38	ENSP00000320898:P38L	ENSP00000320898:P38L	P	-	2	0	RNF168	197714329	0.979000	0.34478	0.029000	0.17559	0.061000	0.15899	5.916000	0.69981	2.868000	0.98415	0.555000	0.69702	CCG		0.582	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	NM_152617		5	184	0	0	0	1	0	5	184				
VCL	7414	broad.mit.edu	37	10	75877843	75877843	+	Silent	SNP	G	G	A			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr10:75877843G>A	ENST00000211998.4	+	22	3415	c.3321G>A	c.(3319-3321)cgG>cgA	p.R1107R	RP11-178G16.4_ENST00000598318.1_lincRNA|VCL_ENST00000417648.2_Silent_p.R300R|RP11-178G16.5_ENST00000599110.1_lincRNA|VCL_ENST00000372755.3_Silent_p.R1039R	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	1107	C-terminal tail.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					AGACTGTGCGGGAAGCTGAAG	0.522																																						ENST00000211998.4																		VCL/ALK(4)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20						c.(3319-3321)cgG>cgA		vinculin							142.0	125.0	131.0					10																	75877843		2203	4300	6503	SO:0001819	synonymous_variant	7414				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity	g.chr10:75877843G>A	M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"""metavinculin"""	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.3321G>A	10.37:g.75877843G>A						VCL_ENST00000417648.2_Silent_p.R300R|VCL_ENST00000372755.3_Silent_p.R1039R	p.R1107R	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN			22	3415	+	Prostate(51;0.0112)		1107			C-terminal tail.		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Silent	SNP	ENST00000211998.4	37	c.3321G>A	CCDS7341.1																																																																																				0.522	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003373, NM_014000		5	268	0	0	0	1	0	5	268				
GPR18	2841	broad.mit.edu	37	13	99907196	99907196	+	Missense_Mutation	SNP	G	G	A	rs374416624		TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr13:99907196G>A	ENST00000340807.3	-	3	1487	c.931C>T	c.(931-933)Cgc>Tgc	p.R311C	GPR18_ENST00000397473.2_Missense_Mutation_p.R311C|UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron|GPR18_ENST00000397470.2_Missense_Mutation_p.R311C			Q14330	GPR18_HUMAN	G protein-coupled receptor 18	311					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	CTTTTTCTGCGCATGCTTCGA	0.378																																						ENST00000340807.3																			0				endometrium(2)|large_intestine(2)|lung(6)	10						c.(931-933)Cgc>Tgc		G protein-coupled receptor 18	Glycine(DB00145)	G	CYS/ARG,,CYS/ARG,	1,4405	2.1+/-5.4	0,1,2202	138.0	135.0	136.0		931,,931,	6.0	1.0	13		136	0,8600		0,0,4300	no	missense,intron,missense,intron	GPR18,UBAC2	NM_001098200.1,NM_001144072.1,NM_005292.3,NM_177967.3	180,,180,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,,probably-damaging,	311/332,,311/332,	99907196	1,13005	2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:99907196G>A	L42324	CCDS9491.1	13q32	2014-01-30			ENSG00000125245	ENSG00000125245		"""GPCR / Class A : Orphans"""	4472	protein-coding gene	gene with protein product		602042				9205118	Standard	NM_005292		Approved		uc010afv.3	Q14330	OTTHUMG00000017266	ENST00000340807.3:c.931C>T	13.37:g.99907196G>A	ENSP00000343428:p.Arg311Cys					GPR18_ENST00000397470.2_Missense_Mutation_p.R311C|GPR18_ENST00000397473.2_Missense_Mutation_p.R311C|UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron	p.R311C			Q14330	GPR18_HUMAN			3	1487	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		311					Q6GTM3|Q96HI6|Q9H2L2	Missense_Mutation	SNP	ENST00000340807.3	37	c.931C>T	CCDS9491.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178757	0.78564	2.27E-4	0.0	ENSG00000125245	ENST00000397473;ENST00000397470;ENST00000340807	T;T;T	0.38887	1.11;1.11;1.11	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.55369	0.1916	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.45396	-0.9264	9	.	.	.	-23.1651	20.4387	0.99107	0.0:0.0:1.0:0.0	.	311	Q14330	GPR18_HUMAN	C	311	ENSP00000380613:R311C;ENSP00000380610:R311C;ENSP00000343428:R311C	.	R	-	1	0	GPR18	98705197	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.784000	0.68990	2.836000	0.97738	0.655000	0.94253	CGC		0.378	GPR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045585.1			4	194	0	0	0	1	0	4	194				
MUC7	4589	broad.mit.edu	37	4	71347047	71347047	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr4:71347047T>C	ENST00000304887.5	+	3	776	c.586T>C	c.(586-588)Tct>Cct	p.S196P	MUC7_ENST00000456088.1_Missense_Mutation_p.S196P|MUC7_ENST00000413702.1_Missense_Mutation_p.S196P	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	196	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.587																																						ENST00000413702.1																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(586-588)Tct>Cct		mucin 7, secreted							418.0	336.0	364.0					4																	71347047		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71347047T>C	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.586T>C	4.37:g.71347047T>C	ENSP00000302021:p.Ser196Pro					MUC7_ENST00000456088.1_Missense_Mutation_p.S196P|MUC7_ENST00000304887.5_Missense_Mutation_p.S196P	p.S196P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	874	+			196			Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.586T>C	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	T	6.962	0.547349	0.13312	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.52754	0.65;0.65;0.65	1.47	-1.35	0.09114	.	.	.	.	.	T	0.36799	0.0980	L	0.27053	0.805	0.09310	N	1	D	0.62365	0.991	P	0.51974	0.686	T	0.19549	-1.0302	8	.	.	.	1.201	3.003	0.06019	0.2339:0.0:0.2388:0.5272	.	196	Q8TAX7	MUC7_HUMAN	P	196	ENSP00000407422:S196P;ENSP00000400585:S196P;ENSP00000302021:S196P	.	S	+	1	0	MUC7	71381636	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.779000	0.04659	-0.362000	0.08113	0.383000	0.25322	TCT		0.587	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		4	229	0	0	0	1	0	4	229				
CDC73	79577	broad.mit.edu	37	1	193218979	193218979	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr1:193218979C>T	ENST00000367435.3	+	16	1721	c.1537C>T	c.(1537-1539)Cgg>Tgg	p.R513W	CDC73_ENST00000477868.1_3'UTR	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	513	Interaction with POLR2A and PAF1.				cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						AGTGTTCTTACGGTTTTGGGA	0.348																																						ENST00000367435.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						c.(1537-1539)Cgg>Tgg		cell division cycle 73							118.0	120.0	119.0					1																	193218979		2203	4300	6503	SO:0001583	missense	79577				cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr1:193218979C>T	AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"""Paf1/RNA polymerase II complex component"""	607393	"""chromosome 1 open reading frame 28"", ""hyperparathyroidism 2 (with jaw tumor)"", ""cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"", ""hyperparathyroidism 1"""	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.1537C>T	1.37:g.193218979C>T	ENSP00000356405:p.Arg513Trp					CDC73_ENST00000477868.1_3'UTR	p.R513W	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN			16	1721	+			513					A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	ENST00000367435.3	37	c.1537C>T	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.572159	0.45798	.	.	ENSG00000134371	ENST00000367435	T	0.65178	-0.14	5.53	1.44	0.22558	.	0.125364	0.53938	N	0.000051	T	0.55721	0.1938	L	0.50333	1.59	0.53688	D	0.99997	D	0.56746	0.977	P	0.47941	0.562	T	0.53034	-0.8495	10	0.72032	D	0.01	-5.248	5.2781	0.15661	0.3741:0.4392:0.1207:0.066	.	513	Q6P1J9	CDC73_HUMAN	W	513	ENSP00000356405:R513W	ENSP00000356405:R513W	R	+	1	2	CDC73	191485602	1.000000	0.71417	0.878000	0.34440	0.231000	0.25187	3.613000	0.54152	0.010000	0.14839	-1.057000	0.02308	CGG		0.348	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529		63	106	0	0	0	1	0	63	106				
PPL	5493	broad.mit.edu	37	16	4934297	4934297	+	Silent	SNP	C	C	T	rs189264388		TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr16:4934297C>T	ENST00000345988.2	-	22	4448	c.4359G>A	c.(4357-4359)ccG>ccA	p.P1453P	PPL_ENST00000590782.2_Silent_p.P1451P	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1453					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GCGCCTGCTGCGGGTCCTGCT	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		17169	0.001		0.0	False		,,,				2504	0.0					ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(4357-4359)ccG>ccA		periplakin							69.0	68.0	68.0					16																	4934297		2191	4295	6486	SO:0001819	synonymous_variant	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4934297C>T	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.4359G>A	16.37:g.4934297C>T						PPL_ENST00000590782.2_Silent_p.P1451P	p.P1453P	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			22	4448	-			1453					O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	37	c.4359G>A	CCDS10526.1																																																																																				0.657	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		4	251	0	0	0	1	0	4	251				
SPRY2	10253	broad.mit.edu	37	13	80911840	80911840	+	Start_Codon_SNP	SNP	T	T	C			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr13:80911840T>C	ENST00000377102.1	-	2	978	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	SPRY2_ENST00000377104.3_Start_Codon_SNP_p.M1V|SPRY2_ENST00000540649.1_Start_Codon_SNP_p.M1V			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	1					bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of mitotic spindle orientation (GO:0000132)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inner ear morphogenesis (GO:0042472)|lung growth (GO:0060437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|sensory perception of sound (GO:0007605)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase inhibitor activity (GO:0030291)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		CTGGCCTCCATCAGGTCTTGG	0.587																																						ENST00000377102.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12						c.(1-3)Atg>Gtg		sprouty homolog 2 (Drosophila)							28.0	30.0	29.0					13																	80911840		2202	4298	6500	SO:0001582	initiator_codon_variant	10253				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity	g.chr13:80911840T>C	AF039843	CCDS9463.1	13q31.1	2008-05-14	2001-11-28		ENSG00000136158	ENSG00000136158			11270	protein-coding gene	gene with protein product		602466	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005842		Approved	hSPRY2	uc001vlj.3	O43597	OTTHUMG00000017140	ENST00000377102.1:c.1A>G	13.37:g.80911840T>C	ENSP00000366306:p.Met1Val					SPRY2_ENST00000540649.1_Start_Codon_SNP_p.M1V|SPRY2_ENST00000377104.3_Start_Codon_SNP_p.M1V	p.M1V			O43597	SPY2_HUMAN		GBM - Glioblastoma multiforme(99;0.0318)	2	978	-	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)	1					B2R9J9|Q5T6Z7	Translation_Start_Site	SNP	ENST00000377102.1	37	c.1A>G	CCDS9463.1	.	.	.	.	.	.	.	.	.	.	T	10.63	1.404163	0.25291	.	.	ENSG00000136158	ENST00000377104;ENST00000377102;ENST00000541655;ENST00000540649	T;T;T	0.56611	0.45;0.45;0.45	5.2	5.2	0.72013	.	0.131252	0.64402	D	0.000003	T	0.53981	0.1830	.	.	.	0.80722	D	1	P	0.46656	0.882	B	0.43623	0.425	T	0.61505	-0.7049	9	0.87932	D	0	.	15.1453	0.72647	0.0:0.0:0.0:1.0	.	1	O43597	SPY2_HUMAN	V	1	ENSP00000366308:M1V;ENSP00000366306:M1V;ENSP00000439027:M1V	ENSP00000366306:M1V	M	-	1	0	SPRY2	79809841	1.000000	0.71417	1.000000	0.80357	0.214000	0.24535	7.636000	0.83301	1.989000	0.58080	0.529000	0.55759	ATG		0.587	SPRY2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045387.1		Missense_Mutation	22	34	0	0	0	1	0	22	34				
DPAGT1	1798	broad.mit.edu	37	11	118968694	118968694	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr11:118968694G>A	ENST00000409993.2	-	8	2339	c.788C>T	c.(787-789)gCc>gTc	p.A263V	H2AFX_ENST00000530167.1_5'Flank|DPAGT1_ENST00000354202.4_Missense_Mutation_p.A263V|DPAGT1_ENST00000445653.1_5'Flank|DPAGT1_ENST00000432443.2_Missense_Mutation_p.A156V			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	263					cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		GCCCACCACGGCAAAGGTCAT	0.532																																						ENST00000409993.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17						c.(787-789)gCc>gTc		dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)							191.0	166.0	174.0					11																	118968694		2200	4295	6495	SO:0001583	missense	1798				dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity	g.chr11:118968694G>A	Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533	ENST00000409993.2:c.788C>T	11.37:g.118968694G>A	ENSP00000386597:p.Ala263Val					DPAGT1_ENST00000432443.2_Missense_Mutation_p.A156V|DPAGT1_ENST00000354202.4_Missense_Mutation_p.A263V	p.A263V			Q9H3H5	GPT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)	8	2339	-	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	263					O15216|Q86WV9|Q9BWE6	Missense_Mutation	SNP	ENST00000409993.2	37	c.788C>T	CCDS8411.1	.	.	.	.	.	.	.	.	.	.	G	33	5.265627	0.95399	.	.	ENSG00000172269	ENST00000409993;ENST00000354202;ENST00000432443	D;D;D	0.95853	-3.83;-3.83;-3.83	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.98163	0.9393	M	0.89904	3.07	0.80722	D	1	D;D	0.71674	0.998;0.995	D;D	0.73380	0.98;0.951	D	0.98223	1.0479	10	0.54805	T	0.06	-41.5507	19.2671	0.93993	0.0:0.0:1.0:0.0	.	156;263	E7EW40;Q9H3H5	.;GPT_HUMAN	V	263;263;156	ENSP00000386597:A263V;ENSP00000346142:A263V;ENSP00000404036:A156V	ENSP00000346142:A263V	A	-	2	0	DPAGT1	118473904	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.788000	0.95919	0.650000	0.86243	GCC		0.532	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331527.2	NM_001382		5	168	0	0	0	1	0	5	168				
OR10G4	390264	broad.mit.edu	37	11	123887129	123887129	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr11:123887129A>G	ENST00000320891.4	+	1	848	c.848A>G	c.(847-849)aAc>aGc	p.N283S		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CCCCTTCTCAACCCTGTTGTG	0.458																																						ENST00000320891.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48						c.(847-849)aAc>aGc		olfactory receptor, family 10, subfamily G, member 4							96.0	87.0	90.0					11																	123887129		2201	4299	6500	SO:0001583	missense	390264				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123887129A>G	AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.848A>G	11.37:g.123887129A>G	ENSP00000325076:p.Asn283Ser						p.N283S	NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	848	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	283					Q6IEW0	Missense_Mutation	SNP	ENST00000320891.4	37	c.848A>G	CCDS31702.1	.	.	.	.	.	.	.	.	.	.	a	16.32	3.091428	0.55968	.	.	ENSG00000254737	ENST00000320891	T	0.58652	0.32	3.38	3.38	0.38709	GPCR, rhodopsin-like superfamily (1);	0.153040	0.30201	N	0.010180	T	0.62270	0.2414	M	0.73217	2.22	0.37306	D	0.908927	P	0.43857	0.819	P	0.46850	0.529	T	0.72915	-0.4147	10	0.87932	D	0	.	11.9412	0.52903	1.0:0.0:0.0:0.0	.	283	Q8NGN3	O10G4_HUMAN	S	283	ENSP00000325076:N283S	ENSP00000325076:N283S	N	+	2	0	OR10G4	123392339	1.000000	0.71417	0.760000	0.31359	0.786000	0.44442	5.957000	0.70323	1.547000	0.49401	0.473000	0.43528	AAC		0.458	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		27	161	0	0	0	1	0	27	161				
PFKP	5214	broad.mit.edu	37	10	3143689	3143689	+	Missense_Mutation	SNP	G	G	A	rs11542782		TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr10:3143689G>A	ENST00000381125.4	+	4	473	c.397G>A	c.(397-399)Ggg>Agg	p.G133R	PFKP_ENST00000381075.2_Missense_Mutation_p.G125R|PFKP_ENST00000421751.1_3'UTR	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	133	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GAGCCTCACCGGGGCCAACCT	0.667																																						ENST00000381075.2																			0				breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(373-375)Ggg>Agg		phosphofructokinase, platelet							25.0	28.0	27.0					10																	3143689		2202	4300	6502	SO:0001583	missense	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3143689G>A	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"""Phosphofructokinase, platelet type"""	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.397G>A	10.37:g.3143689G>A	ENSP00000370517:p.Gly133Arg					PFKP_ENST00000381125.4_Missense_Mutation_p.G133R	p.G125R	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	6	597	+			133					B3KS15|Q5VSR7|Q5VSR8	Missense_Mutation	SNP	ENST00000381125.4	37	c.373G>A	CCDS7059.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.752364	0.69533	.	.	ENSG00000067057	ENST00000381125;ENST00000397834;ENST00000381075;ENST00000421751;ENST00000407806	D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4	4.64	4.64	0.57946	Phosphofructokinase domain (2);	0.000000	0.85682	D	0.000000	D	0.97362	0.9137	H	0.99626	4.665	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99824	1.1049	10	0.87932	D	0	.	17.8892	0.88866	0.0:0.0:1.0:0.0	rs11542782	125;133	Q5VSR7;Q01813	.;K6PP_HUMAN	R	133;122;125;95;95	ENSP00000370517:G133R;ENSP00000370465:G125R;ENSP00000410590:G95R;ENSP00000385880:G95R	ENSP00000370465:G125R	G	+	1	0	PFKP	3133689	1.000000	0.71417	0.915000	0.36163	0.142000	0.21351	9.507000	0.97996	2.293000	0.77203	0.650000	0.86243	GGG		0.667	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		8	20	0	0	0	1	0	8	20				
ZNF366	167465	broad.mit.edu	37	5	71756109	71756109	+	Silent	SNP	C	C	T			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr5:71756109C>T	ENST00000318442.5	-	2	1705	c.1215G>A	c.(1213-1215)ccG>ccA	p.P405P		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	405					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GCAGCTGGCTCGGGTACTGGA	0.597																																						ENST00000318442.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35						c.(1213-1215)ccG>ccA		zinc finger protein 366							124.0	96.0	106.0					5																	71756109		2203	4300	6503	SO:0001819	synonymous_variant	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71756109C>T	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.1215G>A	5.37:g.71756109C>T							p.P405P	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	2	1705	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	405					Q5HYI9|Q7RTV4	Silent	SNP	ENST00000318442.5	37	c.1215G>A	CCDS4015.1																																																																																				0.597	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			37	38	0	0	0	1	0	37	38				
KIF5C	3800	broad.mit.edu	37	2	149679717	149679717	+	Silent	SNP	A	A	G	rs560119808	byFrequency	TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr2:149679717A>G	ENST00000435030.1	+	2	506	c.138A>G	c.(136-138)ccA>ccG	p.P46P				O60282	KIF5C_HUMAN	kinesin family member 5C	46	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		AAGGGAAGCCATATGTCTTCG	0.388													A|||	11	0.00219649	0.0	0.0	5008	,	,		21363	0.0		0.0	False		,,,				2504	0.0112					ENST00000435030.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(136-138)ccA>ccG		kinesin family member 5C							81.0	78.0	79.0					2																	149679717		1862	4115	5977	SO:0001819	synonymous_variant	3800				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:149679717A>G	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.138A>G	2.37:g.149679717A>G							p.P46P			O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	2	506	+			46			Kinesin-motor.		O95079|Q2YDC5	Silent	SNP	ENST00000435030.1	37	c.138A>G																																																																																					0.388	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522		16	35	0	0	0	1	0	16	35				
ENTPD1	953	broad.mit.edu	37	10	97583115	97583115	+	Silent	SNP	C	C	T			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr10:97583115C>T	ENST00000371205.4	+	2	421	c.138C>T	c.(136-138)aaC>aaT	p.N46N	ENTPD1_ENST00000543964.1_Intron|ENTPD1_ENST00000453258.2_Silent_p.N53N|ENTPD1_ENST00000371207.3_Silent_p.N58N|ENTPD1_ENST00000371203.5_5'UTR|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000490659.1_3'UTR|ENTPD1_ENST00000539125.1_5'UTR			P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	46					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		TGCCAGAAAACGTTAAGGTAA	0.468																																						ENST00000371207.3																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16						c.(172-174)aaC>aaT		ectonucleoside triphosphate diphosphohydrolase 1							137.0	126.0	130.0					10																	97583115		2203	4300	6503	SO:0001819	synonymous_variant	953				cell adhesion	integral to plasma membrane	ATP binding	g.chr10:97583115C>T	S73813	CCDS7444.1, CCDS53556.1, CCDS53557.1, CCDS53558.1, CCDS41554.1	10q24.1	2014-03-03			ENSG00000138185	ENSG00000138185		"""CD molecules"""	3363	protein-coding gene	gene with protein product		601752		CD39		9226376, 24482476	Standard	NM_001098175		Approved	NTPDase-1, ATPDase, SPG64	uc010qoj.2	P49961	OTTHUMG00000018818	ENST00000371205.4:c.138C>T	10.37:g.97583115C>T						ENTPD1_ENST00000371203.5_5'UTR|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000371205.4_Silent_p.N46N|ENTPD1_ENST00000543964.1_Intron|ENTPD1_ENST00000539125.1_5'UTR|ENTPD1_ENST00000453258.2_Silent_p.N53N|ENTPD1_ENST00000490659.1_3'UTR	p.N58N	NM_001164178.1	NP_001157650.1	P49961	ENTP1_HUMAN		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)	2	237	+		Colorectal(252;0.0821)	46	SS -> G (in Ref. 8; AA sequence).				A9Z1X8|B4DWB9|B4E1X1|B7Z599|G3XAF6|Q5T561|Q5T562|Q86VV3|Q9UQQ9|Q9Y3Q9	Silent	SNP	ENST00000371205.4	37	c.174C>T	CCDS7444.1																																																																																				0.468	ENTPD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049566.1	NM_001776		64	70	0	0	0	1	0	64	70				
GLYAT	10249	broad.mit.edu	37	11	58477535	58477535	+	Missense_Mutation	SNP	G	G	A	rs138125182	byFrequency	TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr11:58477535G>A	ENST00000344743.3	-	6	736	c.595C>T	c.(595-597)Cgc>Tgc	p.R199C	GLYAT_ENST00000529732.1_Missense_Mutation_p.R199C	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	199					acyl-CoA metabolic process (GO:0006637)|glycine metabolic process (GO:0006544)|monocarboxylic acid metabolic process (GO:0032787)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)|glycine N-benzoyltransferase activity (GO:0047962)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	TGAATGCAGCGCTCAATGAAT	0.502													G|||	2	0.000399361	0.0008	0.0	5008	,	,		19262	0.001		0.0	False		,,,				2504	0.0					ENST00000344743.3																			0				NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						c.(595-597)Cgc>Tgc		glycine-N-acyltransferase	Glycine(DB00145)	G	CYS/ARG	0,4402		0,0,2201	78.0	79.0	79.0		595	5.2	0.0	11	dbSNP_134	79	2,8588	2.2+/-6.3	0,2,4293	yes	missense	GLYAT	NM_201648.2	180	0,2,6494	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	199/297	58477535	2,12990	2201	4295	6496	SO:0001583	missense	10249				acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity	g.chr11:58477535G>A	AF023466	CCDS7970.1, CCDS7971.1	11q12.1	2008-03-11					2.3.1.13		13734	protein-coding gene	gene with protein product		607424					Standard	NM_201648		Approved	GAT, ACGNAT	uc001nnb.3	Q6IB77		ENST00000344743.3:c.595C>T	11.37:g.58477535G>A	ENSP00000340200:p.Arg199Cys					GLYAT_ENST00000529732.1_Missense_Mutation_p.R199C	p.R199C	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN			6	736	-		Breast(21;0.0044)|all_epithelial(135;0.0157)	199					O14833|Q96QK7	Missense_Mutation	SNP	ENST00000344743.3	37	c.595C>T	CCDS7970.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	12.43	1.935409	0.34189	0.0	2.33E-4	ENSG00000149124	ENST00000344743;ENST00000529732	T;T	0.19938	2.11;2.11	6.06	5.16	0.70880	Acyl-CoA N-acyltransferase (2);Glycine N-acyltransferase, N-terminal (1);	0.304112	0.36338	N	0.002658	T	0.52354	0.1729	M	0.91717	3.235	0.22292	N	0.999225	D	0.89917	1.0	D	0.74674	0.984	T	0.55879	-0.8071	10	0.62326	D	0.03	-10.1399	11.4349	0.50062	0.0825:0.0:0.9175:0.0	.	199	Q6IB77	GLYAT_HUMAN	C	199	ENSP00000340200:R199C;ENSP00000431688:R199C	ENSP00000340200:R199C	R	-	1	0	GLYAT	58234111	0.978000	0.34361	0.027000	0.17364	0.054000	0.15201	2.344000	0.44010	1.578000	0.49821	0.650000	0.86243	CGC		0.502	GLYAT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394593.1			69	104	0	0	0	1	0	69	104				
SLC16A3	9123	broad.mit.edu	37	17	80195354	80195354	+	Silent	SNP	G	G	A			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr17:80195354G>A	ENST00000581287.1	+	3	3030	c.708G>A	c.(706-708)tcG>tcA	p.S236S	SLC16A3_ENST00000582743.1_Silent_p.S236S|SLC16A3_ENST00000392341.1_Silent_p.S236S|SLC16A3_ENST00000392339.1_Silent_p.S236S	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3	236					blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|leukocyte migration (GO:0050900)|monocarboxylic acid transport (GO:0015718)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|poly(A) RNA binding (GO:0044822)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Gamma Hydroxybutyric Acid(DB01440)|Niacin(DB00627)|Pyruvic acid(DB00119)	TGGCCGCCTCGGTCATGGTGC	0.716																																					Pancreas(52;652 1135 19190 37282 52456)	ENST00000581287.1																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(706-708)tcG>tcA		solute carrier family 16 (monocarboxylate transporter), member 3	Pyruvic acid(DB00119)						22.0	24.0	23.0					17																	80195354		2195	4297	6492	SO:0001819	synonymous_variant	9123				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr17:80195354G>A	U81800	CCDS11804.1	17q25.3	2013-07-18	2013-07-18		ENSG00000141526	ENSG00000141526		"""Solute carriers"""	10924	protein-coding gene	gene with protein product		603877	"""solute carrier family 16 (monocarboxylic acid transporters), member 3"", ""solute carrier family 16, member 3 (monocarboxylic acid transporter 4)"""			9425115	Standard	NM_004207		Approved	MCT3, MCT4	uc021ufm.1	O15427	OTTHUMG00000178832	ENST00000581287.1:c.708G>A	17.37:g.80195354G>A						SLC16A3_ENST00000582743.1_Silent_p.S236S|SLC16A3_ENST00000392339.1_Silent_p.S236S|SLC16A3_ENST00000392341.1_Silent_p.S236S	p.S236S	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		3	3030	+	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		236					B3KXG8|Q2M1P8	Silent	SNP	ENST00000581287.1	37	c.708G>A	CCDS11804.1																																																																																				0.716	SLC16A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443498.1	NM_004207		16	23	0	0	0	1	0	16	23				
ASF1B	55723	broad.mit.edu	37	19	14231314	14231314	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr19:14231314C>A	ENST00000263382.3	-	4	1065	c.566G>T	c.(565-567)tGc>tTc	p.C189F	PRKACA_ENST00000590853.1_5'Flank|CTB-55O6.10_ENST00000590715.1_RNA|PRKACA_ENST00000308677.4_5'Flank|ASF1B_ENST00000592798.1_Missense_Mutation_p.C130F	NM_018154.2	NP_060624.1	Q9NVP2	ASF1B_HUMAN	anti-silencing function 1B histone chaperone	189					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						GCCAGGGATGCAGCCAGGGAG	0.642																																						ENST00000263382.3																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						c.(565-567)tGc>tTc		anti-silencing function 1B histone chaperone							55.0	57.0	57.0					19																	14231314		2203	4300	6503	SO:0001583	missense	55723				cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus		g.chr19:14231314C>A	AF279307	CCDS12306.1	19p13.12	2013-05-01	2013-05-01		ENSG00000105011	ENSG00000105011			20996	protein-coding gene	gene with protein product		609190	"""ASF1 anti-silencing function 1 homolog B (S. cerevisiae)"""			11897662, 11470414	Standard	NM_018154		Approved	FLJ10604	uc002mye.3	Q9NVP2	OTTHUMG00000150401	ENST00000263382.3:c.566G>T	19.37:g.14231314C>A	ENSP00000263382:p.Cys189Phe					ASF1B_ENST00000592798.1_Missense_Mutation_p.C130F	p.C189F	NM_018154.2	NP_060624.1	Q9NVP2	ASF1B_HUMAN			4	1065	-			189					Q53G51|Q9NVZ0	Missense_Mutation	SNP	ENST00000263382.3	37	c.566G>T	CCDS12306.1	.	.	.	.	.	.	.	.	.	.	C	6.191	0.403470	0.11754	.	.	ENSG00000105011	ENST00000263382	.	.	.	4.93	1.15	0.20763	.	0.538187	0.18089	N	0.152048	T	0.21881	0.0527	N	0.14661	0.345	0.28342	N	0.921312	B	0.16802	0.019	B	0.09377	0.004	T	0.12889	-1.0530	9	0.33940	T	0.23	.	7.2357	0.26067	0.0:0.5825:0.3171:0.1004	.	189	Q9NVP2	ASF1B_HUMAN	F	189	.	ENSP00000263382:C189F	C	-	2	0	ASF1B	14092314	0.001000	0.12720	0.330000	0.25442	0.350000	0.29205	-0.019000	0.12546	0.401000	0.25424	-0.367000	0.07326	TGC		0.642	ASF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317946.1	NM_018154		11	52	1	0	1.77063e-15	1	1.80116e-15	11	52				
PCDHA1	56147	broad.mit.edu	37	5	140167257	140167257	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr5:140167257C>T	ENST00000504120.2	+	1	1382	c.1382C>T	c.(1381-1383)aCa>aTa	p.T461I	PCDHA1_ENST00000378133.3_Missense_Mutation_p.T461I|PCDHA1_ENST00000394633.3_Missense_Mutation_p.T461I	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	461	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGAGTACACAGTATTCGTG	0.672																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(1381-1383)aCa>aTa									63.0	69.0	67.0					5																	140167257		2203	4299	6502	SO:0001583	missense	0							g.chr5:140167257C>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1382C>T	5.37:g.140167257C>T	ENSP00000420840:p.Thr461Ile					PCDHA1_ENST00000394633.3_Missense_Mutation_p.T461I|PCDHA1_ENST00000378133.3_Missense_Mutation_p.T461I	p.T461I	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1382	+								O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.1382C>T	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	c	13.33	2.204548	0.38905	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.01821	4.62;4.62;4.62	4.02	4.02	0.46733	Cadherin (4);Cadherin-like (1);	0.000000	0.42548	U	0.000681	T	0.06917	0.0176	L	0.50333	1.59	0.28572	N	0.9106	D;P;D	0.89917	0.995;0.931;1.0	D;P;D	0.74674	0.984;0.582;0.945	T	0.01156	-1.1434	10	0.87932	D	0	.	13.4741	0.61297	0.0:0.8294:0.1706:0.0	.	461;461;461	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	I	461	ENSP00000420840:T461I;ENSP00000378129:T461I;ENSP00000367373:T461I	ENSP00000367373:T461I	T	+	2	0	PCDHA1	140147441	0.026000	0.19158	0.994000	0.49952	0.227000	0.25037	0.387000	0.20718	1.984000	0.57885	0.549000	0.68633	ACA		0.672	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		94	132	0	0	0	1	0	94	132				
WDR66	144406	broad.mit.edu	37	12	122399950	122399950	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr12:122399950C>G	ENST00000288912.4	+	15	3228	c.2374C>G	c.(2374-2376)Cag>Gag	p.Q792E	WDR66_ENST00000397454.2_Missense_Mutation_p.Q792E|WDR66_ENST00000545752.1_3'UTR	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	792							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CCACACCGACCAGGGCTGCTA	0.512																																					Esophageal Squamous(85;849 1794 49757 52143)	ENST00000288912.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2374-2376)Cag>Gag		WD repeat domain 66							106.0	109.0	108.0					12																	122399950		1987	4160	6147	SO:0001583	missense	144406						calcium ion binding	g.chr12:122399950C>G	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.2374C>G	12.37:g.122399950C>G	ENSP00000288912:p.Gln792Glu					WDR66_ENST00000545752.1_3'UTR|WDR66_ENST00000397454.2_Missense_Mutation_p.Q792E	p.Q792E	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	15	3228	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		792					C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	ENST00000288912.4	37	c.2374C>G	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.107150	0.56291	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	T;T	0.54071	0.59;1.32	5.23	5.23	0.72850	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.70937	0.3281	M	0.78456	2.415	0.58432	D	0.999993	D	0.56035	0.974	P	0.58577	0.841	T	0.74022	-0.3798	10	0.54805	T	0.06	.	18.8311	0.92139	0.0:1.0:0.0:0.0	.	792	Q8TBY9	WDR66_HUMAN	E	792	ENSP00000288912:Q792E;ENSP00000380595:Q792E	ENSP00000288912:Q792E	Q	+	1	0	WDR66	120884333	1.000000	0.71417	1.000000	0.80357	0.177000	0.22998	6.550000	0.73905	2.445000	0.82738	0.555000	0.69702	CAG		0.512	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		119	158	0	0	0	1	0	119	158				
EMR1	2015	broad.mit.edu	37	19	6928249	6928249	+	Intron	SNP	G	G	A	rs200848075		TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr19:6928249G>A	ENST00000312053.4	+	17	2326				EMR1_ENST00000381407.5_Intron|EMR1_ENST00000450315.3_Intron|EMR1_ENST00000381404.4_Silent_p.A720A|EMR1_ENST00000250572.8_Intron	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1						cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					ACAGCCTGGCGAAGTGTGTTC	0.498																																						ENST00000381404.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62						c.(2158-2160)gcG>gcA		egf-like module containing, mucin-like, hormone receptor-like 1							114.0	105.0	108.0					19																	6928249		2203	4300	6503	SO:0001627	intron_variant	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6928249G>A	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.2289+27G>A	19.37:g.6928249G>A						EMR1_ENST00000250572.8_Intron|EMR1_ENST00000312053.4_Intron|EMR1_ENST00000450315.3_Intron|EMR1_ENST00000381407.5_Intron	p.A720A	NM_001256252.1	NP_001243181.1	Q14246	EMR1_HUMAN			16	2190	+	all_hematologic(4;0.166)		763					A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Silent	SNP	ENST00000312053.4	37	c.2160G>A	CCDS12175.1																																																																																				0.498	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			60	88	0	0	0	1	0	60	88				
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796|rs79472512	byFrequency	TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1				espin pseudogene																		CAGCAGCAGCCAGCTGAGCACC	0.718														1500	0.299521	0.1188	0.3444	5008	,	,		24180	0.4177		0.3101	False		,,,				2504	0.3793					ENST00000492551.1																			0																																																			0							g.chr1:17034125_17034126insAGCT	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17034126_17034129dupAGCT								NR_026567.1						0	477_478	-									RNA	INS	ENST00000492551.1	37																																																																																						0.718	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			3	3						3	3	---	---	---	---
GAL3ST2	64090	broad.mit.edu	37	2	242738494	242738496	+	In_Frame_Del	DEL	TCC	TCC	-	rs199680376		TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr2:242738494_242738496delTCC	ENST00000192314.6	+	2	175_177	c.44_46delTCC	c.(43-48)atcctc>atc	p.L20del	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	20					biosynthetic process (GO:0009058)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)	p.L16I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TTCCGGGTCATCCTCCTCCTCCT	0.631																																						ENST00000192314.6																			1	Substitution - Missense(1)	p.L16I(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14						c.(43-48)atc>a		galactose-3-O-sulfotransferase 2																																				SO:0001651	inframe_deletion	64090				biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	g.chr2:242738494_242738496delTCC	AB040610	CCDS33427.1	2q37.2	2014-05-19			ENSG00000154252	ENSG00000154252		"""Sulfotransferases, membrane-bound"""	24869	protein-coding gene	gene with protein product		608237				11029462	Standard	NM_022134		Approved	GP3ST	uc002wcj.1	Q9H3Q3	OTTHUMG00000151473	ENST00000192314.6:c.44_46delTCC	2.37:g.242738503_242738505delTCC	ENSP00000192314:p.Leu20del						p.IL15del	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	2	175_177	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	15					Q17RK0|Q57Z52	In_Frame_Del	DEL	ENST00000192314.6	37	c.44_46delTCC	CCDS33427.1																																																																																				0.631	GAL3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322792.1	NM_022134		8	118						8	118	---	---	---	---
GPR149	344758	broad.mit.edu	37	3	154146723	154146727	+	Frame_Shift_Del	DEL	TGGAG	TGGAG	-			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr3:154146723_154146727delTGGAG	ENST00000389740.2	-	1	777_781	c.678_682delCTCCA	c.(676-684)cactccaacfs	p.HSN226fs		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	226					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S227S(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TCCTGGTAGTTGGAGTGGAGTCTCG	0.595																																						ENST00000389740.2																			1	Substitution - coding silent(1)	p.S227S(1)	lung(1)	autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47						c.(676-684)caacfs		G protein-coupled receptor 149																																				SO:0001589	frameshift_variant	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154146723_154146727delTGGAG	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.678_682delCTCCA	3.37:g.154146728_154146732delTGGAG	ENSP00000374390:p.His226fs						p.HSN226fs	NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		1	777_781	-			226						Frame_Shift_Del	DEL	ENST00000389740.2	37	c.678_682delCTCCA	CCDS43162.1																																																																																				0.595	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		42	102						42	102	---	---	---	---
KIAA1586	57691	broad.mit.edu	37	6	56918978	56918979	+	Frame_Shift_Ins	INS	-	-	T			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr6:56918978_56918979insT	ENST00000370733.4	+	4	1888_1889	c.1681_1682insT	c.(1681-1683)atafs	p.I561fs	KIAA1586_ENST00000545356.1_Frame_Shift_Ins_p.I534fs	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	561							nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CAAACGTACCATAAGAGCTTTG	0.267																																						ENST00000370733.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18						c.(1681-1683)aagfs		KIAA1586																																				SO:0001589	frameshift_variant	57691						nucleic acid binding	g.chr6:56918978_56918979insT	AB046806	CCDS34480.1, CCDS69138.1	6p12.1	2014-03-27			ENSG00000168116	ENSG00000168116			21360	protein-coding gene	gene with protein product						10997877	Standard	NM_001286274		Approved		uc003pdj.3	Q9HCI6	OTTHUMG00000014915	ENST00000370733.4:c.1682dupT	6.37:g.56918979_56918979dupT	ENSP00000359768:p.Ile561fs					KIAA1586_ENST00000545356.1_Frame_Shift_Ins_p.K534fs	p.K561fs	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		4	1888_1889	+	Lung NSC(77;0.0969)		561					A8K4M3|Q8IW25	Frame_Shift_Ins	INS	ENST00000370733.4	37	c.1681_1682insT	CCDS34480.1																																																																																				0.267	KIAA1586-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041033.1	NM_020931		52	57						52	57	---	---	---	---
MIR3687-2	103504728	broad.mit.edu	37	21	9825838	9825839	+	RNA	INS	-	-	GCG	rs372061766|rs369177681|rs563875271	byFrequency	TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr21:9825838_9825839insGCG	ENST00000577708.1	+	0	0				MIR3648_ENST00000581792.1_RNA	NR_037458.1																						cggccgcgactgcggcggcggt	0.842																																						ENST00000581792.1																			0																																																			0							g.chr21:9825838_9825839insGCG																													21.37:g.9825845_9825847dupGCG								NR_037421.1						0	7_8	+									RNA	INS	ENST00000577708.1	37																																																																																						0.842	MIR3687-201	KNOWN	basic	miRNA	miRNA				3	4						3	4	---	---	---	---
