#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
MIR508	574513	broad.mit.edu	37	X	146318444	146318444	+	RNA	SNP	G	G	A	rs376885438		TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chrX:146318444G>A	ENST00000384857.1	-	0	101					NR_030235.1				microRNA 508																		CCAAATATGCGTTACGTGATG	0.507																																						ENST00000384857.1																			0															C		0,2627		0,0,0,1059,509	92.0	70.0	77.0			-6.3	0.0	X		77	1,5497		0,0,1,1916,1665	no	intergenic				0,0,1,2975,2174	AA,AG,A,GG,G		0.0182,0.0,0.0123			146318444	1,8124	1568	3582	5150			0							g.chrX:146318444G>A			Xq27.3	2011-09-12		2008-12-18	ENSG00000207589	ENSG00000207589		"""ncRNAs / Micro RNAs"""	32145	non-coding RNA	RNA, micro		300874		MIRN508			Standard	NR_030235		Approved	hsa-mir-508	uc022cfw.1				X.37:g.146318444G>A								NR_030235.1						0	101	-									RNA	SNP	ENST00000384857.1	37																																																																																						0.507	MIR508-201	KNOWN	basic	miRNA	miRNA		NR_030235		20	2	0	0	0	1	0	20	2				
CADPS	8618	broad.mit.edu	37	3	62751626	62751626	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr3:62751626G>A	ENST00000383710.4	-	2	824	c.475C>T	c.(475-477)Cgg>Tgg	p.R159W	CADPS_ENST00000357948.3_Missense_Mutation_p.R159W|CADPS_ENST00000490353.2_Missense_Mutation_p.R159W|CADPS_ENST00000283269.9_Missense_Mutation_p.R159W	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	159					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GCCTGAAACCGGTCCTTGACT	0.453																																						ENST00000383710.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(475-477)Cgg>Tgg		Ca++-dependent secretion activator							138.0	123.0	128.0					3																	62751626		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62751626G>A	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.475C>T	3.37:g.62751626G>A	ENSP00000373215:p.Arg159Trp					CADPS_ENST00000357948.3_Missense_Mutation_p.R159W|CADPS_ENST00000283269.9_Missense_Mutation_p.R159W|CADPS_ENST00000490353.2_Missense_Mutation_p.R159W	p.R159W	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	2	824	-		Lung SC(41;0.0452)	159					A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.475C>T	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049729	0.75846	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000490353	D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84	5.24	3.43	0.39272	.	0.055380	0.85682	D	0.000000	D	0.92407	0.7590	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.992;0.993	D	0.93247	0.6631	10	0.87932	D	0	.	17.0363	0.86477	0.0:0.0:0.8653:0.1347	.	159;159;159	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	W	159	ENSP00000373215:R159W;ENSP00000350632:R159W;ENSP00000283269:R159W;ENSP00000418736:R159W	ENSP00000283269:R159W	R	-	1	2	CADPS	62726666	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.333000	0.72939	0.692000	0.31613	-1.075000	0.02238	CGG		0.453	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		36	70	0	0	0	1	0	36	70				
KLHL23	151230	broad.mit.edu	37	2	170592131	170592131	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr2:170592131C>A	ENST00000392647.2	+	2	851	c.607C>A	c.(607-609)Cca>Aca	p.P203T	KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Missense_Mutation_p.P203T	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	203	BACK.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						TATCATAGAGCCAGTTATTAA	0.353																																						ENST00000392647.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						c.(607-609)Cca>Aca		kelch-like family member 23							47.0	51.0	49.0					2																	170592131		2203	4300	6503	SO:0001583	missense	151230							g.chr2:170592131C>A	BC010437	CCDS2236.1	2q31.1	2013-01-30	2013-01-30		ENSG00000213160	ENSG00000213160		"""Kelch-like"", ""BTB/POZ domain containing"""	27506	protein-coding gene	gene with protein product			"""kelch-like 23 (Drosophila)"""				Standard	NM_144711		Approved	MGC2610, FLJ37812, MGC22679	uc002ufi.2	Q8NBE8	OTTHUMG00000132213	ENST00000392647.2:c.607C>A	2.37:g.170592131C>A	ENSP00000376419:p.Pro203Thr					KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Missense_Mutation_p.P203T	p.P203T	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN			2	851	+			203			BACK.		Q8N9B9|Q96FT8	Missense_Mutation	SNP	ENST00000392647.2	37	c.607C>A	CCDS2236.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.796940	0.31777	.	.	ENSG00000213160	ENST00000272797;ENST00000392647;ENST00000437875	T;T;T	0.67523	-0.27;-0.27;-0.27	5.81	5.81	0.92471	BTB/Kelch-associated (2);	0.107189	0.64402	D	0.000004	T	0.53417	0.1795	N	0.13043	0.29	0.34527	D	0.708835	B	0.11235	0.004	B	0.17098	0.017	T	0.59123	-0.7513	9	0.87932	D	0	.	16.5516	0.84473	0.0:0.8611:0.1389:0.0	.	203	Q8NBE8	KLH23_HUMAN	T	203;203;24	ENSP00000272797:P203T;ENSP00000376419:P203T;ENSP00000394732:P24T	ENSP00000272797:P203T	P	+	1	0	KLHL23	170300377	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.310000	0.65780	2.738000	0.93877	0.655000	0.94253	CCA		0.353	KLHL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255271.2	NM_144711		3	69	1	0	0.115264	1	0.115264	3	69				
CIC	23152	broad.mit.edu	37	19	42791715	42791715	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr19:42791715C>T	ENST00000575354.2	+	5	641	c.601C>T	c.(601-603)Cgg>Tgg	p.R201W	CIC_ENST00000160740.3_Missense_Mutation_p.R201W|CIC_ENST00000572681.2_Missense_Mutation_p.R1110W	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	201					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R201W(1)		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)				GGACCACATCCGGCGGCCCAT	0.622			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		1	Substitution - Missense(1)	p.R201W(1)	central_nervous_system(1)	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.(3328-3330)Cgg>Tgg		capicua transcriptional repressor							65.0	70.0	68.0					19																	42791715		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791715C>T	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.601C>T	19.37:g.42791715C>T	ENSP00000458663:p.Arg201Trp					CIC_ENST00000160740.3_Missense_Mutation_p.R201W|CIC_ENST00000575354.2_Missense_Mutation_p.R201W	p.R1110W			Q96RK0	CIC_HUMAN			6	3396	+		Prostate(69;0.00682)	201			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3328C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.960036	0.53400	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	D	0.85133	0.5627	M	0.92555	3.32	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.88918	0.3364	8	0.87932	D	0	-12.0024	14.5138	0.67807	0.0:1.0:0.0:0.0	.	201	Q96RK0	CIC_HUMAN	W	201	.	ENSP00000160740:R201W	R	+	1	2	CIC	47483555	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	3.466000	0.53071	2.284000	0.76573	0.555000	0.69702	CGG		0.622	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			32	5	0	0	0	1	0	32	5				
MUC5B	727897	broad.mit.edu	37	11	1266182	1266182	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr11:1266182C>T	ENST00000529681.1	+	31	8130	c.8072C>T	c.(8071-8073)aCc>aTc	p.T2691I	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.T2694I	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2691	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	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)		ccatcactgaccaccacggcc	0.622																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(8080-8082)aCc>aTc		mucin 5B, oligomeric mucus/gel-forming							24.0	37.0	33.0					11																	1266182		1794	3931	5725	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1266182C>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.8072C>T	11.37:g.1266182C>T	ENSP00000436812:p.Thr2691Ile					MUC5B_ENST00000529681.1_Missense_Mutation_p.T2691I|RP11-532E4.2_ENST00000532061.2_RNA	p.T2694I			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	8139	+		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)	2691	Missing (in Ref. 6; AAB61398).		11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.8081C>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	1.944	-0.442769	0.04604	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637	T;T	0.19669	2.13;2.31	2.12	-4.25	0.03766	.	.	.	.	.	T	0.16471	0.0396	M	0.63843	1.955	0.09310	N	1	B	0.24186	0.099	B	0.19666	0.026	T	0.26430	-1.0103	9	0.87932	D	0	.	1.3555	0.02181	0.148:0.2133:0.3816:0.2571	.	2694	E9PBJ0	.	I	2691;2694;2663	ENSP00000436812:T2691I;ENSP00000415793:T2694I	ENSP00000343037:T2663I	T	+	2	0	MUC5B	1222758	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.098000	0.11024	-2.154000	0.00792	-0.970000	0.02610	ACC		0.622	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		6	10	0	0	0	1	0	6	10				
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	80								p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363																																						ENST00000278882.3																			8	Substitution - Missense(8)	p.A80P(8)	prostate(4)|kidney(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(238-240)Gct>Cct																																						SO:0001583	missense	0							g.chr20:29628236G>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.238G>C	20.37:g.29628236G>C	ENSP00000278882:p.Ala80Pro					FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P	p.A80P							6	618	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.238G>C		.	.	.	.	.	.	.	.	.	.	g	15.73	2.920277	0.52653	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.57595	0.39	2.08	2.08	0.27032	Actin cross-linking (1);	0.052409	0.85682	D	0.000000	T	0.68952	0.3057	.	.	.	0.80722	D	1	D;D	0.64830	0.994;0.988	D;D	0.85130	0.997;0.993	T	0.72766	-0.4194	9	0.87932	D	0	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	85;80	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	P	80;85;80	ENSP00000408863:A85P	ENSP00000278882:A80P	A	+	1	0	FRG1B	28241897	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	167	0	0	0	1	0	4	167				
CILP	8483	broad.mit.edu	37	15	65491077	65491077	+	Missense_Mutation	SNP	C	C	T	rs372849933		TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr15:65491077C>T	ENST00000261883.4	-	9	1713	c.1547G>A	c.(1546-1548)cGt>cAt	p.R516H		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	516					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CATGCTTACACGGCTGTTCCC	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		23089	0.0		0.001	False		,,,				2504	0.0					ENST00000261883.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						c.(1546-1548)cGt>cAt		cartilage intermediate layer protein, nucleotide pyrophosphohydrolase							79.0	70.0	73.0					15																	65491077		2202	4299	6501	SO:0001583	missense	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65491077C>T	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.1547G>A	15.37:g.65491077C>T	ENSP00000261883:p.Arg516His						p.R516H	NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN			9	1713	-			516					B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	c.1547G>A	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.487726	0.64074	.	.	ENSG00000138615	ENST00000261883	T	0.57273	0.41	5.95	5.95	0.96441	.	0.045450	0.85682	D	0.000000	T	0.70141	0.3190	M	0.64997	1.995	0.48185	D	0.999606	D	0.89917	1.0	D	0.66602	0.945	T	0.67035	-0.5772	10	0.44086	T	0.13	-12.9017	19.3813	0.94536	0.0:1.0:0.0:0.0	.	516	O75339	CILP1_HUMAN	H	516	ENSP00000261883:R516H	ENSP00000261883:R516H	R	-	2	0	CILP	63278130	0.996000	0.38824	0.950000	0.38849	0.953000	0.61014	4.894000	0.63206	2.824000	0.97209	0.655000	0.94253	CGT		0.582	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		21	30	0	0	0	1	0	21	30				
RBM47	54502	broad.mit.edu	37	4	40440030	40440030	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr4:40440030G>A	ENST00000381793.2	-	3	1277	c.881C>T	c.(880-882)gCc>gTc	p.A294V	RBM47_ENST00000295971.7_Missense_Mutation_p.A294V|RBM47_ENST00000514014.1_Missense_Mutation_p.A256V|RBM47_ENST00000381795.6_Missense_Mutation_p.A294V|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000319592.4_Missense_Mutation_p.A294V			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	294	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGCATGCACGGCATCCTCGCG	0.622																																						ENST00000319592.4																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(880-882)gCc>gTc		RNA binding motif protein 47							48.0	43.0	45.0					4																	40440030		2203	4300	6503	SO:0001583	missense	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40440030G>A	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.881C>T	4.37:g.40440030G>A	ENSP00000371212:p.Ala294Val					RBM47_ENST00000295971.7_Missense_Mutation_p.A294V|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000514014.1_Missense_Mutation_p.A256V|RBM47_ENST00000381795.6_Missense_Mutation_p.A294V|RBM47_ENST00000381793.2_Missense_Mutation_p.A294V	p.A294V			A0AV96	RBM47_HUMAN			4	1590	-			294			RRM 3.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	ENST00000381793.2	37	c.881C>T	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575337	0.86645	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014	D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74	5.58	5.58	0.84498	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.046322	0.85682	D	0.000000	D	0.89993	0.6876	M	0.63428	1.95	0.80722	D	1	D;D	0.71674	0.988;0.998	P;D	0.67382	0.778;0.951	D	0.90503	0.4475	10	0.87932	D	0	-22.1976	19.5729	0.95428	0.0:0.0:1.0:0.0	.	294;294	A0AV96-2;A0AV96	.;RBM47_HUMAN	V	294;294;294;294;256	ENSP00000320108:A294V;ENSP00000371212:A294V;ENSP00000371214:A294V;ENSP00000295971:A294V;ENSP00000423243:A256V	ENSP00000295971:A294V	A	-	2	0	RBM47	40134787	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	9.795000	0.99099	2.630000	0.89119	0.462000	0.41574	GCC		0.622	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		3	50	0	0	0	1	0	3	50				
AGAP1	116987	broad.mit.edu	37	2	236706492	236706492	+	Missense_Mutation	SNP	G	G	A	rs367742479		TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr2:236706492G>A	ENST00000304032.8	+	7	1343	c.763G>A	c.(763-765)Gtc>Atc	p.V255I	AGAP1_ENST00000409538.1_Missense_Mutation_p.V520I|AGAP1_ENST00000336665.5_Missense_Mutation_p.V255I|AGAP1_ENST00000428334.2_Missense_Mutation_p.V94I|AGAP1_ENST00000409457.1_Missense_Mutation_p.V255I	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	255	Small GTPase-like.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CCATTCCTCCGTCTGTTCCGC	0.512																																						ENST00000409538.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(1558-1560)Gtc>Atc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 1		G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	186.0	182.0	184.0		763,763	5.3	0.7	2		184	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	AGAP1	NM_001037131.2,NM_014914.4	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	255/858,255/805	236706492	1,13005	2203	4300	6503	SO:0001583	missense	116987				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr2:236706492G>A	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.763G>A	2.37:g.236706492G>A	ENSP00000307634:p.Val255Ile					AGAP1_ENST00000304032.7_Missense_Mutation_p.V255I|AGAP1_ENST00000336665.5_Missense_Mutation_p.V255I|AGAP1_ENST00000409457.1_Missense_Mutation_p.V255I|AGAP1_ENST00000428334.2_Missense_Mutation_p.V94I	p.V520I			Q9UPQ3	AGAP1_HUMAN			7	2054	+			255			PH.		B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	ENST00000304032.8	37	c.1558G>A	CCDS33408.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.226332	0.58668	0.0	1.16E-4	ENSG00000157985	ENST00000409457;ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334	T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.40145	0.1105	L	0.56769	1.78	0.54753	D	0.999988	P;P	0.52170	0.951;0.941	B;B	0.42851	0.4;0.151	T	0.26155	-1.0111	10	0.33141	T	0.24	.	18.974	0.92728	0.0:0.0:1.0:0.0	.	255;255	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	I	255;255;255;520;94	ENSP00000387174:V255I;ENSP00000307634:V255I;ENSP00000338378:V255I;ENSP00000386897:V520I;ENSP00000411824:V94I	ENSP00000307634:V255I	V	+	1	0	AGAP1	236371231	1.000000	0.71417	0.687000	0.30102	0.810000	0.45777	6.491000	0.73649	2.478000	0.83669	0.650000	0.86243	GTC		0.512	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914		14	191	0	0	0	1	0	14	191				
HMGCS2	3158	broad.mit.edu	37	1	120302572	120302572	+	Nonsense_Mutation	SNP	A	A	T			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr1:120302572A>T	ENST00000369406.3	-	3	649	c.600T>A	c.(598-600)taT>taA	p.Y200*	HMGCS2_ENST00000544913.2_Intron|HMGCS2_ENST00000476640.1_5'UTR	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	200					cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|ketone body biosynthetic process (GO:0046951)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxymethylglutaryl-CoA synthase activity (GO:0004421)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		TACCACTGGGATAGACGGCAA	0.517																																						ENST00000369406.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(598-600)taT>taA		3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)							60.0	57.0	58.0					1																	120302572		2203	4300	6503	SO:0001587	stop_gained	3158				acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity	g.chr1:120302572A>T	BC044217	CCDS905.1, CCDS53353.1	1p13-p12	2014-09-17	2010-04-30		ENSG00000134240	ENSG00000134240			5008	protein-coding gene	gene with protein product		600234	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)"""			7851882, 7893153	Standard	NM_005518		Approved		uc001eid.3	P54868	OTTHUMG00000012101	ENST00000369406.3:c.600T>A	1.37:g.120302572A>T	ENSP00000358414:p.Tyr200*					HMGCS2_ENST00000544913.2_Intron|HMGCS2_ENST00000476640.1_5'UTR	p.Y200*	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)	3	649	-	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)	200					B7Z8R3|D3Y5K6|Q5SZU2|Q6IBF4	Nonsense_Mutation	SNP	ENST00000369406.3	37	c.600T>A	CCDS905.1	.	.	.	.	.	.	.	.	.	.	A	36	5.610492	0.96637	.	.	ENSG00000134240	ENST00000369406	.	.	.	5.32	-0.862	0.10673	.	0.000000	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.2369	11.0839	0.48076	0.4752:0.0:0.5248:0.0	.	.	.	.	X	200	.	ENSP00000358414:Y200X	Y	-	3	2	HMGCS2	120104095	0.975000	0.34042	0.096000	0.21009	0.912000	0.54170	0.320000	0.19540	-0.420000	0.07427	0.374000	0.22700	TAT		0.517	HMGCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033469.2	NM_005518		3	23	0	0	0	1	0	3	23				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000564451.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																0							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000567960.1_RNA								0	1866	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	96	0	0	0	1	0	4	96				
COL2A1	1280	broad.mit.edu	37	12	48380873	48380873	+	Silent	SNP	C	C	T	rs560149744		TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr12:48380873C>T	ENST00000380518.3	-	21	1517	c.1353G>A	c.(1351-1353)ccG>ccA	p.P451P	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Silent_p.P382P	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	451	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TCTGACCTTTCGGGCCCAGAG	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		18690	0.0		0.0	False		,,,				2504	0.001					ENST00000380518.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64						c.(1351-1353)ccG>ccA		collagen, type II, alpha 1	Collagenase(DB00048)						69.0	73.0	72.0					12																	48380873		2203	4300	6503	SO:0001819	synonymous_variant	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48380873C>T	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.1353G>A	12.37:g.48380873C>T						COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Silent_p.P382P	p.P451P	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN			21	1517	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	451			Triple-helical region.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Silent	SNP	ENST00000380518.3	37	c.1353G>A	CCDS41778.1																																																																																				0.622	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		43	46	0	0	0	1	0	43	46				
EDN1	1906	broad.mit.edu	37	6	12296198	12296198	+	Silent	SNP	G	G	A			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr6:12296198G>A	ENST00000379375.5	+	5	804	c.537G>A	c.(535-537)tcG>tcA	p.S179S		NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN	endothelin 1	179					artery smooth muscle contraction (GO:0014824)|body fluid secretion (GO:0007589)|calcium-mediated signaling (GO:0019722)|cartilage development (GO:0051216)|cell growth (GO:0016049)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|dorsal/ventral pattern formation (GO:0009953)|epithelial fluid transport (GO:0042045)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose transport (GO:0015758)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|inositol phosphate-mediated signaling (GO:0048016)|leukocyte activation (GO:0045321)|maternal process involved in parturition (GO:0060137)|membrane depolarization (GO:0051899)|middle ear morphogenesis (GO:0042474)|multicellular organismal aging (GO:0010259)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of hormone secretion (GO:0046888)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|nitric oxide transport (GO:0030185)|patterning of blood vessels (GO:0001569)|peptide hormone secretion (GO:0030072)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase D-activating G-protein coupled receptor signaling pathway (GO:0031583)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of odontogenesis (GO:0042482)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of urine volume (GO:0035810)|prostaglandin biosynthetic process (GO:0001516)|protein kinase C deactivation (GO:0042313)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|respiratory gaseous exchange (GO:0007585)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to testosterone (GO:0033574)|rhythmic excitation (GO:0043179)|sensory perception of pain (GO:0019233)|superoxide anion generation (GO:0042554)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|endothelin A receptor binding (GO:0031707)|endothelin B receptor binding (GO:0031708)|hormone activity (GO:0005179)	p.S179S(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				TTATTAGGTCGGAGACCATGA	0.393																																						ENST00000379375.5																			1	Substitution - coding silent(1)	p.S179S(1)	lung(1)	endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(535-537)tcG>tcA		endothelin 1							140.0	138.0	139.0					6																	12296198		2203	4300	6503	SO:0001819	synonymous_variant	1906				artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity	g.chr6:12296198G>A	S56805	CCDS4522.1	6p24.1	2014-03-19			ENSG00000078401	ENSG00000078401		"""Endogenous ligands"""	3176	protein-coding gene	gene with protein product		131240					Standard	NM_001168319		Approved	ET1	uc003nae.4	P05305	OTTHUMG00000014266	ENST00000379375.5:c.537G>A	6.37:g.12296198G>A							p.S179S	NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN			5	804	+	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)	179					Q96DA1	Silent	SNP	ENST00000379375.5	37	c.537G>A	CCDS4522.1																																																																																				0.393	EDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039872.1	NM_001955		11	146	0	0	0	1	0	11	146				
ANO6	196527	broad.mit.edu	37	12	45741926	45741926	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr12:45741926G>A	ENST00000320560.8	+	5	663	c.461G>A	c.(460-462)cGg>cAg	p.R154Q	ANO6_ENST00000423947.3_Missense_Mutation_p.R175Q|ANO6_ENST00000441606.2_Missense_Mutation_p.R136Q|ANO6_ENST00000435642.1_Missense_Mutation_p.R154Q|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000425752.2_Missense_Mutation_p.R154Q	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	154					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTGAAAAACCGGTCCTCAGCC	0.438																																						ENST00000320560.8																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(460-462)cGg>cAg		anoctamin 6							110.0	112.0	111.0					12																	45741926		2203	4300	6503	SO:0001583	missense	196527				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	g.chr12:45741926G>A	AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.461G>A	12.37:g.45741926G>A	ENSP00000320087:p.Arg154Gln					ANO6_ENST00000441606.2_Missense_Mutation_p.R136Q|ANO6_ENST00000435642.1_Missense_Mutation_p.R154Q|ANO6_ENST00000425752.2_Missense_Mutation_p.R154Q|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000423947.3_Missense_Mutation_p.R175Q	p.R154Q	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN			5	663	+			154					A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	ENST00000320560.8	37	c.461G>A	CCDS31782.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.923678	0.34002	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28	5.18	2.33	0.28932	.	0.267304	0.38837	N	0.001557	T	0.41143	0.1146	N	0.20881	0.62	0.36293	D	0.856558	B;B;B;B	0.33022	0.02;0.005;0.394;0.123	B;B;B;B	0.15870	0.007;0.007;0.014;0.009	T	0.39272	-0.9622	10	0.13853	T	0.58	.	8.1603	0.31194	0.3736:0.0:0.6264:0.0	.	136;175;154;154	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	Q	154;175;154;154;136	ENSP00000391417:R154Q;ENSP00000409126:R175Q;ENSP00000413840:R154Q;ENSP00000320087:R154Q;ENSP00000413137:R136Q	ENSP00000320087:R154Q	R	+	2	0	ANO6	44028193	0.037000	0.19845	0.670000	0.29842	0.914000	0.54420	1.035000	0.30216	0.827000	0.34685	0.655000	0.94253	CGG		0.438	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743		41	47	0	0	0	1	0	41	47				
RNF214	257160	broad.mit.edu	37	11	117153161	117153161	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr11:117153161G>A	ENST00000531452.1	+	12	1800	c.1754G>A	c.(1753-1755)cGt>cAt	p.R585H	RNF214_ENST00000531287.1_Missense_Mutation_p.R430H|RNF214_ENST00000524917.1_3'UTR|RNF214_ENST00000530849.1_Missense_Mutation_p.R430H|RNF214_ENST00000300650.4_Missense_Mutation_p.R585H	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	585							zinc ion binding (GO:0008270)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		AAGACAGCACGTACCACCATG	0.517																																						ENST00000530849.1																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(1288-1290)cGt>cAt		ring finger protein 214							102.0	101.0	101.0					11																	117153161		2010	4172	6182	SO:0001583	missense	257160						zinc ion binding	g.chr11:117153161G>A	AL834448	CCDS41720.1, CCDS60976.1	11q23.3	2014-02-12	2007-02-16		ENSG00000167257	ENSG00000167257		"""RING-type (C3HC4) zinc fingers"""	25335	protein-coding gene	gene with protein product							Standard	NM_001077239		Approved	DKFZp547C195	uc001pqt.4	Q8ND24	OTTHUMG00000167069	ENST00000531452.1:c.1754G>A	11.37:g.117153161G>A	ENSP00000431643:p.Arg585His					RNF214_ENST00000300650.4_Missense_Mutation_p.R585H|RNF214_ENST00000531452.1_Missense_Mutation_p.R585H|RNF214_ENST00000531287.1_Missense_Mutation_p.R430H|RNF214_ENST00000524917.1_3'UTR	p.R430H			Q8ND24	RN214_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)	11	1299	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	585					B2RUW0|B4DTD1	Missense_Mutation	SNP	ENST00000531452.1	37	c.1289G>A	CCDS41720.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.796766	0.90453	.	.	ENSG00000167257	ENST00000531287;ENST00000531452;ENST00000530849;ENST00000300650;ENST00000534709	T;T;T;T	0.50277	0.87;0.78;0.75;0.78	5.63	5.63	0.86233	.	0.108661	0.64402	D	0.000005	T	0.61590	0.2359	L	0.43152	1.355	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.83275	0.994;0.996	T	0.52749	-0.8534	10	0.22109	T	0.4	-5.2983	18.6794	0.91541	0.0:0.0:1.0:0.0	.	430;585	B4DTD1;Q8ND24	.;RN214_HUMAN	H	430;585;430;585;137	ENSP00000435361:R430H;ENSP00000431643:R585H;ENSP00000432903:R430H;ENSP00000300650:R585H	ENSP00000300650:R585H	R	+	2	0	RNF214	116658371	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.562000	0.82300	2.654000	0.90174	0.561000	0.74099	CGT		0.517	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392884.1	NM_001077239		28	26	0	0	0	1	0	28	26				
PRKCB	5579	broad.mit.edu	37	16	23848694	23848694	+	Splice_Site	SNP	A	A	G			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr16:23848694A>G	ENST00000321728.7	+	2	348		c.e2-1		PRKCB_ENST00000303531.7_Splice_Site|PRKCB_ENST00000498058.1_Intron	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta						apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	CTGCTTTTGCAGGGGCTTCGG	0.567																																						ENST00000303531.7																			0				central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9						c.e2-1		protein kinase C, beta	Vitamin E(DB00163)						113.0	123.0	120.0					16																	23848694		2197	4300	6497	SO:0001630	splice_region_variant	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:23848694A>G	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.174-1A>G	16.37:g.23848694A>G						PRKCB_ENST00000498058.1_Intron|PRKCB_ENST00000321728.7_Splice_Site		NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN			2	325	+								C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Splice_Site	SNP	ENST00000321728.7	37		CCDS10618.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.384482	0.82792	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7251	0.57166	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRKCB	23756195	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.520000	0.90566	1.940000	0.56252	0.533000	0.62120	.		0.567	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535	Intron	4	169	0	0	0	1	0	4	169				
TCP10	6953	broad.mit.edu	37	6	167796320	167796320	+	Silent	SNP	G	G	A	rs562134831	byFrequency	TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr6:167796320G>A	ENST00000397829.4	-	2	209	c.42C>T	c.(40-42)gaC>gaT	p.D14D	TCP10_ENST00000366827.2_Silent_p.D14D|TCP10_ENST00000476779.2_Silent_p.D14D	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	41						cytosol (GO:0005829)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		CGGCATTGCTGTCCTCCCTGG	0.652													g|||	3	0.000599042	0.0	0.0	5008	,	,		17533	0.0		0.002	False		,,,				2504	0.001					ENST00000366827.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18						c.(40-42)gaC>gaT		t-complex 10																																				SO:0001819	synonymous_variant	6953					cytosol		g.chr6:167796320G>A	U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"""t-complex 10 (a murine tcp homolog)"", ""t-complex 10 (mouse)"", ""t-complex 10 homolog (mouse)"""			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.42C>T	6.37:g.167796320G>A						TCP10_ENST00000397829.4_Silent_p.D14D|TCP10_ENST00000476779.2_Silent_p.D14D	p.D14D			Q12799	TCP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)	2	253	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	41					Q5JR60|Q6P4F4	Silent	SNP	ENST00000397829.4	37	c.42C>T	CCDS43527.1																																																																																				0.652	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365570.1	NM_004610		3	24	0	0	0	1	0	3	24				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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			47	55	0	0	0	1	0	47	55				
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529		TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677																																						ENST00000333822.4																			4	Substitution - Missense(4)	p.C95S(4)	endometrium(3)|kidney(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						c.(283-285)Tgc>Agc		keratin associated protein 4-8							7.0	11.0	10.0					17																	39254054		685	1582	2267	SO:0001583	missense	728224					keratin filament		g.chr17:39254054A>T	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.283T>A	17.37:g.39254054A>T	ENSP00000328444:p.Cys95Ser						p.C95S	NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN			1	339	-			95			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	c.283T>A	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	15.18	2.755714	0.49362	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.02280	4.36	3.11	2.01	0.26516	.	0.000000	0.52532	U	0.000067	T	0.04497	0.0123	M	0.83223	2.63	0.25182	N	0.99019	B	0.21606	0.058	B	0.27887	0.084	T	0.21793	-1.0235	10	0.54805	T	0.06	.	6.3859	0.21559	0.8715:0.0:0.1285:0.0	.	95	Q9BYQ9	KRA48_HUMAN	S	95;80	ENSP00000328444:C95S	ENSP00000414561:C80S	C	-	1	0	KRTAP4-8	36507580	0.999000	0.42202	0.393000	0.26258	0.649000	0.38597	3.122000	0.50446	0.404000	0.25506	0.374000	0.22700	TGC		0.677	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		4	39	0	0	0	1	0	4	39				
NDUFS1	4719	broad.mit.edu	37	2	206981155	206981155	+	3'UTR	DEL	C	C	-	rs71410864	byFrequency	TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr2:206981155delC	ENST00000233190.6	-	0	10204				AC007383.4_ENST00000453039.1_RNA	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)						apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGGCAGGGCGCGGCAGGTGCC	0.627													C|C|-|deletion	1897	0.378794	0.4841	0.5432	5008	,	,		14111	0.2133		0.4364	False		,,,				2504	0.2311					ENST00000453039.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr2:206981155delC		CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7707	protein-coding gene	gene with protein product	"""complex I 75kDa subunit"", ""NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"""	157655	"""NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"""			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.*7754G>-	2.37:g.206981155delC								NR_033248.1						0	885	+								B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	RNA	DEL	ENST00000233190.6	37		CCDS2366.1																																																																																				0.627	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4	NM_005006		5	9						5	9	---	---	---	---
LINC00971	440970	broad.mit.edu	37	3	84741480	84741480	+	lincRNA	DEL	A	A	-	rs71104976		TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr3:84741480delA	ENST00000484892.1	-	0	2354					NR_033860.1				long intergenic non-protein coding RNA 971																		CCTGTCCCAGAAAAAAAAAAA	0.388																																						ENST00000484892.1																			0																																																			0							g.chr3:84741480delA			3p12.1	2013-06-07			ENSG00000242641	ENSG00000242641		"""Long non-coding RNAs"""	48737	non-coding RNA	RNA, long non-coding							Standard	NR_033860		Approved				OTTHUMG00000158981		3.37:g.84741480delA								NR_033860.1						0	2354	-									RNA	DEL	ENST00000484892.1	37																																																																																						0.388	LINC00971-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000352776.2			3	4						3	4	---	---	---	---
LMOD2	442721	broad.mit.edu	37	7	123301995	123301997	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr7:123301995_123301997delGAG	ENST00000458573.2	+	2	512_514	c.355_357delGAG	c.(355-357)gagdel	p.E124del	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	124	Glu-rich.					cytoskeleton (GO:0005856)											AGTGTATACAgaggaggaggagg	0.409																																						ENST00000458573.2																			0											c.(355-357)del		leiomodin 2 (cardiac)				66,3558		3,60,1749						-9.4	0.0			37	117,7687		5,107,3790	no	coding	LMOD2	NM_207163.1		8,167,5539	A1A1,A1R,RR		1.4992,1.8212,1.6013				183,11245				SO:0001651	inframe_deletion	442721					cytoskeleton	actin binding|tropomyosin binding	g.chr7:123301995_123301997delGAG	AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.355_357delGAG	7.37:g.123302004_123302006delGAG	ENSP00000411932:p.Glu124del					LMOD2_ENST00000456238.2_Intron	p.E124del	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN			2	512_514	+			124			Glu-rich.		A4D0W9|A4D0Y2|Q8WVJ8	In_Frame_Del	DEL	ENST00000458573.2	37	c.355_357delGAG	CCDS47693.1																																																																																				0.409	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348525.1			2	4						2	4	---	---	---	---
KAT6A	7994	broad.mit.edu	37	8	41798420	41798422	+	In_Frame_Del	DEL	CTC	CTC	-	rs139076845		TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr8:41798420_41798422delCTC	ENST00000396930.3	-	16	3520_3522	c.2977_2979delGAG	c.(2977-2979)gagdel	p.E993del	KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del|KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	993	Poly-Glu.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GGCTTTCCGGCTCCTCCTCCTCC	0.567																																						ENST00000396930.3																			0											c.(2977-2979)del		K(lysine) acetyltransferase 6A																																				SO:0001651	inframe_deletion	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41798420_41798422delCTC	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.2977_2979delGAG	8.37:g.41798429_41798431delCTC	ENSP00000380136:p.Glu993del					KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del|KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del	p.E993del	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			16	3520_3522	-			993			Poly-Glu.		Q76L81	In_Frame_Del	DEL	ENST00000396930.3	37	c.2977_2979delGAG	CCDS6124.1																																																																																				0.567	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		7	160						7	160	---	---	---	---
BCORL1	63035	broad.mit.edu	37	X	129155055	129155055	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chrX:129155055delG	ENST00000218147.7	+	5	3734	c.3537delG	c.(3535-3537)aagfs	p.K1179fs	BCORL1_ENST00000540052.1_Frame_Shift_Del_p.K1179fs|BCORL1_ENST00000359304.2_Frame_Shift_Del_p.K1179fs|BCORL1_ENST00000303743.5_Frame_Shift_Del_p.K1179fs			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1179					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TCAGGGGAAAGCACAAGCACC	0.622																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(3535-3537)aafs		BCL6 corepressor-like 1							39.0	40.0	39.0					X																	129155055		2203	4300	6503	SO:0001589	frameshift_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129155055delG	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.3537delG	X.37:g.129155055delG	ENSP00000218147:p.Lys1179fs					BCORL1_ENST00000218147.7_Frame_Shift_Del_p.K1179fs|BCORL1_ENST00000303743.5_Frame_Shift_Del_p.K1179fs|BCORL1_ENST00000359304.2_Frame_Shift_Del_p.K1179fs	p.K1179fs	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			4	3581	+			1179					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Frame_Shift_Del	DEL	ENST00000218147.7	37	c.3537delG	CCDS14616.1																																																																																				0.622	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		15	3						15	3	---	---	---	---
